Incidental Mutation 'R0647:Cdh23'
ID 57274
Institutional Source Beutler Lab
Gene Symbol Cdh23
Ensembl Gene ENSMUSG00000012819
Gene Name cadherin related 23 (otocadherin)
Synonyms bob, sals, USH1D, ahl, mdfw, nmf252, 4930542A03Rik, nmf112, nmf181
MMRRC Submission 038832-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.428) question?
Stock # R0647 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 60138527-60532269 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 60159153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 2207 (Y2207*)
Ref Sequence ENSEMBL: ENSMUSP00000101104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073242] [ENSMUST00000105461] [ENSMUST00000105462] [ENSMUST00000105463] [ENSMUST00000105464]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000073242
AA Change: Y2208*
SMART Domains Protein: ENSMUSP00000072973
Gene: ENSMUSG00000012819
AA Change: Y2208*

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 55 130 5.15e-13 SMART
CA 154 234 3.19e-18 SMART
CA 258 346 2.03e-11 SMART
CA 371 458 8.11e-11 SMART
CA 482 559 1.04e-22 SMART
CA 583 669 3.55e-25 SMART
CA 693 776 2.04e-25 SMART
CA 800 888 5.03e-16 SMART
CA 912 993 1.05e-27 SMART
CA 1017 1100 1.99e-19 SMART
CA 1124 1206 6.94e-19 SMART
CA 1231 1311 1.99e-19 SMART
CA 1335 1415 1.21e-18 SMART
CA 1440 1524 2.38e-26 SMART
CA 1549 1631 6.27e-26 SMART
CA 1656 1741 6.99e-24 SMART
CA 1765 1848 3.49e-24 SMART
CA 1872 1956 2.78e-18 SMART
CA 1984 2066 5.6e-14 SMART
CA 2090 2171 2.59e-27 SMART
CA 2195 2290 2.87e-11 SMART
CA 2317 2399 1.01e-20 SMART
CA 2423 2506 1.09e-25 SMART
CA 2530 2608 7.91e-23 SMART
CA 2634 2719 1.06e-23 SMART
CA 2750 2843 2e-10 SMART
Blast:CA 2867 2956 4e-51 BLAST
transmembrane domain 3067 3089 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000105461
AA Change: Y2209*
SMART Domains Protein: ENSMUSP00000101101
Gene: ENSMUSG00000012819
AA Change: Y2209*

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 55 130 5.15e-13 SMART
CA 154 234 3.19e-18 SMART
CA 258 346 2.03e-11 SMART
CA 371 458 1.25e-11 SMART
CA 482 559 1.04e-22 SMART
CA 583 669 3.55e-25 SMART
CA 693 776 2.04e-25 SMART
CA 800 888 5.03e-16 SMART
CA 912 993 1.05e-27 SMART
CA 1017 1100 1.99e-19 SMART
CA 1124 1206 6.94e-19 SMART
CA 1231 1311 1.99e-19 SMART
CA 1335 1416 5.26e-19 SMART
CA 1441 1525 2.38e-26 SMART
CA 1550 1632 6.27e-26 SMART
CA 1657 1742 6.99e-24 SMART
CA 1766 1849 3.49e-24 SMART
CA 1873 1957 2.78e-18 SMART
CA 1985 2067 5.6e-14 SMART
CA 2091 2172 2.59e-27 SMART
CA 2196 2291 2.87e-11 SMART
CA 2318 2400 1.01e-20 SMART
CA 2424 2507 1.09e-25 SMART
CA 2531 2609 7.91e-23 SMART
CA 2635 2720 1.06e-23 SMART
CA 2751 2844 2e-10 SMART
Blast:CA 2868 2957 4e-51 BLAST
transmembrane domain 3068 3090 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000105462
AA Change: Y2211*
SMART Domains Protein: ENSMUSP00000101102
Gene: ENSMUSG00000012819
AA Change: Y2211*

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 55 130 5.15e-13 SMART
CA 154 234 3.19e-18 SMART
CA 261 349 2.03e-11 SMART
CA 374 461 8.11e-11 SMART
CA 485 562 1.04e-22 SMART
CA 586 672 3.55e-25 SMART
CA 696 779 2.04e-25 SMART
CA 803 891 5.03e-16 SMART
CA 915 996 1.05e-27 SMART
CA 1020 1103 1.99e-19 SMART
CA 1127 1209 6.94e-19 SMART
CA 1234 1314 1.99e-19 SMART
CA 1338 1418 1.21e-18 SMART
CA 1443 1527 2.38e-26 SMART
CA 1552 1634 6.27e-26 SMART
CA 1659 1744 6.99e-24 SMART
CA 1768 1851 3.49e-24 SMART
CA 1875 1959 2.78e-18 SMART
CA 1987 2069 5.6e-14 SMART
CA 2093 2174 2.59e-27 SMART
CA 2198 2293 2.87e-11 SMART
CA 2320 2402 1.01e-20 SMART
CA 2426 2509 1.09e-25 SMART
CA 2533 2611 7.91e-23 SMART
CA 2637 2722 1.06e-23 SMART
CA 2753 2846 2e-10 SMART
Blast:CA 2870 2959 4e-51 BLAST
transmembrane domain 3070 3092 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000105463
AA Change: Y2209*
SMART Domains Protein: ENSMUSP00000101103
Gene: ENSMUSG00000012819
AA Change: Y2209*

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 55 130 5.15e-13 SMART
CA 154 234 3.19e-18 SMART
CA 258 346 2.03e-11 SMART
CA 371 458 1.25e-11 SMART
CA 482 559 1.04e-22 SMART
CA 583 669 3.55e-25 SMART
CA 693 776 2.04e-25 SMART
CA 800 888 5.03e-16 SMART
CA 912 993 1.05e-27 SMART
CA 1017 1100 1.99e-19 SMART
CA 1124 1206 6.94e-19 SMART
CA 1231 1311 1.99e-19 SMART
CA 1335 1416 5.26e-19 SMART
CA 1441 1525 2.38e-26 SMART
CA 1550 1632 6.27e-26 SMART
CA 1657 1742 6.99e-24 SMART
CA 1766 1849 3.49e-24 SMART
CA 1873 1957 2.78e-18 SMART
CA 1985 2067 5.6e-14 SMART
CA 2091 2172 2.59e-27 SMART
CA 2196 2291 2.87e-11 SMART
CA 2318 2400 1.01e-20 SMART
CA 2424 2507 1.09e-25 SMART
CA 2531 2609 7.91e-23 SMART
CA 2635 2720 1.06e-23 SMART
CA 2751 2844 2e-10 SMART
Blast:CA 2868 2957 4e-51 BLAST
transmembrane domain 3068 3090 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000105464
AA Change: Y2207*
SMART Domains Protein: ENSMUSP00000101104
Gene: ENSMUSG00000012819
AA Change: Y2207*

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CA 55 130 5.15e-13 SMART
CA 154 234 3.19e-18 SMART
CA 258 346 2.03e-11 SMART
CA 371 456 3.58e-12 SMART
CA 480 557 1.04e-22 SMART
CA 581 667 3.55e-25 SMART
CA 691 774 2.04e-25 SMART
CA 798 886 5.03e-16 SMART
CA 910 991 1.05e-27 SMART
CA 1015 1098 1.99e-19 SMART
CA 1122 1204 6.94e-19 SMART
CA 1229 1309 1.99e-19 SMART
CA 1333 1414 5.26e-19 SMART
CA 1439 1523 2.38e-26 SMART
CA 1548 1630 6.27e-26 SMART
CA 1655 1740 6.99e-24 SMART
CA 1764 1847 3.49e-24 SMART
CA 1871 1955 2.78e-18 SMART
CA 1983 2065 5.6e-14 SMART
CA 2089 2170 2.59e-27 SMART
CA 2194 2289 2.87e-11 SMART
CA 2316 2398 1.01e-20 SMART
CA 2422 2505 1.09e-25 SMART
CA 2529 2607 7.91e-23 SMART
CA 2633 2718 1.06e-23 SMART
CA 2749 2842 2e-10 SMART
Blast:CA 2866 2955 3e-51 BLAST
transmembrane domain 3066 3088 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153525
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135638
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]
PHENOTYPE: Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 C A 11: 50,494,265 (GRCm39) T113K probably damaging Het
Adgre1 T A 17: 57,718,003 (GRCm39) N338K probably damaging Het
Aggf1 A T 13: 95,508,164 (GRCm39) probably null Het
Apc2 A T 10: 80,140,762 (GRCm39) I206F probably damaging Het
Carmil3 T C 14: 55,739,892 (GRCm39) probably null Het
Ccdc110 A C 8: 46,396,425 (GRCm39) E772A probably damaging Het
Cfap20dc T A 14: 8,536,655 (GRCm38) D184V possibly damaging Het
Chd4 T A 6: 125,086,086 (GRCm39) N908K probably damaging Het
Chst9 A G 18: 15,585,726 (GRCm39) I279T probably damaging Het
Ctnna3 A T 10: 63,656,203 (GRCm39) N261I probably benign Het
Dlgap2 A T 8: 14,777,591 (GRCm39) S279C possibly damaging Het
Dock4 G A 12: 40,760,883 (GRCm39) E524K probably damaging Het
Fabp12 T A 3: 10,311,096 (GRCm39) N122I possibly damaging Het
Fam184b T C 5: 45,741,932 (GRCm39) T100A probably benign Het
Fbxl5 T C 5: 43,925,411 (GRCm39) D176G probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Foxe1 A G 4: 46,344,477 (GRCm39) N95S possibly damaging Het
Frem3 A G 8: 81,341,814 (GRCm39) E1369G probably damaging Het
Frmpd4 C T X: 166,272,006 (GRCm39) E483K probably damaging Het
Gbp11 T C 5: 105,478,830 (GRCm39) K203E possibly damaging Het
Hs3st6 C T 17: 24,977,134 (GRCm39) R205C probably damaging Het
Ifitm10 C T 7: 141,909,772 (GRCm39) S179N probably damaging Het
Irx2 A C 13: 72,778,799 (GRCm39) N121T probably damaging Het
Itih1 A T 14: 30,657,820 (GRCm39) V417E probably damaging Het
Itpr1 A C 6: 108,360,659 (GRCm39) E695A probably damaging Het
Kif1c T A 11: 70,616,967 (GRCm39) I755K probably damaging Het
Lamb3 A G 1: 193,013,104 (GRCm39) E443G probably damaging Het
Lrp1 G C 10: 127,407,346 (GRCm39) T1865R probably damaging Het
Lrrc8b T A 5: 105,628,473 (GRCm39) I273K possibly damaging Het
Ly9 T C 1: 171,427,376 (GRCm39) Y393C probably damaging Het
Mphosph8 T C 14: 56,911,862 (GRCm39) V295A probably benign Het
Nlrp5 T A 7: 23,117,132 (GRCm39) D269E probably damaging Het
Or1r1 G A 11: 73,874,597 (GRCm39) A279V probably damaging Het
Or2t6 T G 14: 14,175,858 (GRCm38) T75P probably benign Het
Or4k44 A G 2: 111,367,704 (GRCm39) V310A probably benign Het
Or52u1 T G 7: 104,237,322 (GRCm39) F104V probably damaging Het
Or5p50 T A 7: 107,422,218 (GRCm39) I153F probably benign Het
Otud3 A G 4: 138,640,948 (GRCm39) L64P probably damaging Het
Pcdh17 A T 14: 84,685,213 (GRCm39) H560L possibly damaging Het
Pcdhb21 T C 18: 37,646,913 (GRCm39) V14A probably damaging Het
Prss3l A T 6: 41,420,275 (GRCm39) F150L probably benign Het
Rbfox1 A T 16: 7,042,248 (GRCm39) Q14L probably damaging Het
Rbm44 A G 1: 91,084,650 (GRCm39) D665G probably benign Het
Rc3h2 C T 2: 37,299,542 (GRCm39) V163M probably damaging Het
Sash1 T A 10: 8,605,316 (GRCm39) R1025W probably damaging Het
Sgpl1 A G 10: 60,949,267 (GRCm39) S146P probably damaging Het
Slc27a2 G A 2: 126,429,836 (GRCm39) D615N probably benign Het
Smap1 A G 1: 23,892,559 (GRCm39) I135T probably damaging Het
Snapc3 A G 4: 83,368,466 (GRCm39) D321G probably damaging Het
St6galnac4 C T 2: 32,479,460 (GRCm39) R6C probably damaging Het
Syne2 C T 12: 75,934,977 (GRCm39) P153L probably benign Het
Tiprl A G 1: 165,050,092 (GRCm39) probably null Het
Tmem94 A G 11: 115,687,621 (GRCm39) N1160S probably damaging Het
Trim65 G A 11: 116,019,036 (GRCm39) R168C possibly damaging Het
Txndc16 A T 14: 45,406,732 (GRCm39) I241N probably damaging Het
Txndc16 T A 14: 45,402,818 (GRCm39) R101* probably null Het
Ugt2b38 A G 5: 87,571,328 (GRCm39) S235P probably benign Het
Ugt3a1 A T 15: 9,310,635 (GRCm39) M306L probably benign Het
Vmn1r23 T A 6: 57,903,169 (GRCm39) Y203F probably benign Het
Vmn2r3 T A 3: 64,183,046 (GRCm39) I218F probably damaging Het
Wdfy4 A G 14: 32,831,656 (GRCm39) C857R possibly damaging Het
Zfp493 A C 13: 67,931,994 (GRCm39) K31T possibly damaging Het
Other mutations in Cdh23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Cdh23 APN 10 60,359,327 (GRCm39) missense probably benign 0.03
IGL00429:Cdh23 APN 10 60,256,920 (GRCm39) missense probably damaging 0.97
IGL01014:Cdh23 APN 10 60,143,301 (GRCm39) missense probably damaging 0.99
IGL01284:Cdh23 APN 10 60,301,876 (GRCm39) missense possibly damaging 0.95
IGL01305:Cdh23 APN 10 60,148,403 (GRCm39) missense probably damaging 1.00
IGL01367:Cdh23 APN 10 60,146,566 (GRCm39) missense probably damaging 1.00
IGL01396:Cdh23 APN 10 60,220,848 (GRCm39) missense possibly damaging 0.93
IGL01412:Cdh23 APN 10 60,150,473 (GRCm39) missense probably damaging 1.00
IGL01461:Cdh23 APN 10 60,244,926 (GRCm39) missense possibly damaging 0.53
IGL01469:Cdh23 APN 10 60,433,504 (GRCm39) missense probably benign 0.03
IGL01695:Cdh23 APN 10 60,167,612 (GRCm39) missense probably benign 0.20
IGL01734:Cdh23 APN 10 60,139,292 (GRCm39) missense probably benign
IGL01767:Cdh23 APN 10 60,151,503 (GRCm39) missense probably damaging 1.00
IGL01796:Cdh23 APN 10 60,146,916 (GRCm39) missense probably benign 0.31
IGL01843:Cdh23 APN 10 60,255,598 (GRCm39) splice site probably null
IGL02025:Cdh23 APN 10 60,220,922 (GRCm39) missense probably damaging 1.00
IGL02071:Cdh23 APN 10 60,359,339 (GRCm39) missense possibly damaging 0.93
IGL02160:Cdh23 APN 10 60,433,544 (GRCm39) splice site probably benign
IGL02175:Cdh23 APN 10 60,167,087 (GRCm39) missense possibly damaging 0.92
IGL02220:Cdh23 APN 10 60,140,903 (GRCm39) missense probably damaging 1.00
IGL02302:Cdh23 APN 10 60,159,302 (GRCm39) missense possibly damaging 0.87
IGL02331:Cdh23 APN 10 60,301,322 (GRCm39) missense probably damaging 0.99
IGL02452:Cdh23 APN 10 60,153,721 (GRCm39) missense probably damaging 0.99
IGL02499:Cdh23 APN 10 60,220,958 (GRCm39) missense probably damaging 1.00
IGL02548:Cdh23 APN 10 60,485,901 (GRCm39) missense probably benign 0.37
IGL02593:Cdh23 APN 10 60,301,774 (GRCm39) splice site probably benign
IGL02626:Cdh23 APN 10 60,227,580 (GRCm39) missense probably damaging 1.00
IGL02951:Cdh23 APN 10 60,147,143 (GRCm39) missense probably damaging 1.00
IGL03145:Cdh23 APN 10 60,212,593 (GRCm39) missense probably damaging 0.99
dee_dee UTSW 10 60,143,835 (GRCm39) nonsense probably null
hersey UTSW 10 60,143,815 (GRCm39) missense probably damaging 1.00
ANU22:Cdh23 UTSW 10 60,148,403 (GRCm39) missense probably damaging 1.00
IGL02980:Cdh23 UTSW 10 60,150,399 (GRCm39) missense probably damaging 1.00
PIT4362001:Cdh23 UTSW 10 60,301,237 (GRCm39) missense probably benign 0.15
R0013:Cdh23 UTSW 10 60,248,952 (GRCm39) missense possibly damaging 0.90
R0045:Cdh23 UTSW 10 60,366,757 (GRCm39) missense probably damaging 1.00
R0045:Cdh23 UTSW 10 60,366,757 (GRCm39) missense probably damaging 1.00
R0082:Cdh23 UTSW 10 60,148,366 (GRCm39) missense probably damaging 1.00
R0124:Cdh23 UTSW 10 60,143,835 (GRCm39) nonsense probably null
R0172:Cdh23 UTSW 10 60,155,411 (GRCm39) missense probably damaging 1.00
R0195:Cdh23 UTSW 10 60,152,838 (GRCm39) missense probably damaging 0.99
R0365:Cdh23 UTSW 10 60,215,094 (GRCm39) missense probably damaging 0.99
R0437:Cdh23 UTSW 10 60,246,576 (GRCm39) missense probably damaging 1.00
R0486:Cdh23 UTSW 10 60,222,725 (GRCm39) missense probably damaging 1.00
R0494:Cdh23 UTSW 10 60,152,375 (GRCm39) splice site probably benign
R0545:Cdh23 UTSW 10 60,167,070 (GRCm39) missense probably benign 0.06
R0619:Cdh23 UTSW 10 60,269,556 (GRCm39) missense probably damaging 1.00
R0647:Cdh23 UTSW 10 60,143,681 (GRCm39) missense probably damaging 0.99
R0730:Cdh23 UTSW 10 60,159,493 (GRCm39) missense probably damaging 0.99
R0880:Cdh23 UTSW 10 60,242,200 (GRCm39) missense possibly damaging 0.51
R0942:Cdh23 UTSW 10 60,246,639 (GRCm39) missense possibly damaging 0.67
R0989:Cdh23 UTSW 10 60,370,289 (GRCm39) missense probably damaging 0.99
R1017:Cdh23 UTSW 10 60,167,572 (GRCm39) missense probably damaging 1.00
R1173:Cdh23 UTSW 10 60,148,171 (GRCm39) splice site probably benign
R1449:Cdh23 UTSW 10 60,212,730 (GRCm39) missense probably damaging 1.00
R1456:Cdh23 UTSW 10 60,322,899 (GRCm39) missense possibly damaging 0.84
R1519:Cdh23 UTSW 10 60,215,122 (GRCm39) missense possibly damaging 0.92
R1532:Cdh23 UTSW 10 60,150,110 (GRCm39) missense probably damaging 0.99
R1559:Cdh23 UTSW 10 60,255,478 (GRCm39) splice site probably benign
R1704:Cdh23 UTSW 10 60,150,390 (GRCm39) missense probably damaging 1.00
R1711:Cdh23 UTSW 10 60,359,315 (GRCm39) missense probably benign 0.07
R1760:Cdh23 UTSW 10 60,161,855 (GRCm39) missense probably damaging 1.00
R1782:Cdh23 UTSW 10 60,324,321 (GRCm39) missense probably damaging 1.00
R1791:Cdh23 UTSW 10 60,227,505 (GRCm39) missense possibly damaging 0.89
R1803:Cdh23 UTSW 10 60,167,060 (GRCm39) missense probably damaging 1.00
R1857:Cdh23 UTSW 10 60,159,076 (GRCm39) missense probably damaging 1.00
R1874:Cdh23 UTSW 10 60,272,597 (GRCm39) missense possibly damaging 0.52
R1914:Cdh23 UTSW 10 60,159,349 (GRCm39) missense probably damaging 0.99
R1958:Cdh23 UTSW 10 60,246,652 (GRCm39) missense probably benign 0.02
R1964:Cdh23 UTSW 10 60,221,001 (GRCm39) missense probably benign 0.31
R1966:Cdh23 UTSW 10 60,159,361 (GRCm39) missense probably damaging 1.00
R1981:Cdh23 UTSW 10 60,214,530 (GRCm39) missense probably damaging 1.00
R2010:Cdh23 UTSW 10 60,150,006 (GRCm39) missense probably damaging 0.99
R2036:Cdh23 UTSW 10 60,301,822 (GRCm39) missense possibly damaging 0.52
R2038:Cdh23 UTSW 10 60,148,366 (GRCm39) missense probably damaging 1.00
R2044:Cdh23 UTSW 10 60,432,509 (GRCm39) missense possibly damaging 0.72
R2111:Cdh23 UTSW 10 60,141,362 (GRCm39) missense probably damaging 0.99
R2112:Cdh23 UTSW 10 60,141,362 (GRCm39) missense probably damaging 0.99
R2211:Cdh23 UTSW 10 60,301,783 (GRCm39) missense possibly damaging 0.92
R2261:Cdh23 UTSW 10 60,152,907 (GRCm39) missense probably damaging 1.00
R2262:Cdh23 UTSW 10 60,152,907 (GRCm39) missense probably damaging 1.00
R2306:Cdh23 UTSW 10 60,159,224 (GRCm39) missense probably damaging 1.00
R2344:Cdh23 UTSW 10 60,152,503 (GRCm39) missense probably damaging 1.00
R2857:Cdh23 UTSW 10 60,218,432 (GRCm39) critical splice donor site probably null
R2858:Cdh23 UTSW 10 60,218,432 (GRCm39) critical splice donor site probably null
R2859:Cdh23 UTSW 10 60,218,432 (GRCm39) critical splice donor site probably null
R2876:Cdh23 UTSW 10 60,143,275 (GRCm39) missense probably damaging 1.00
R3034:Cdh23 UTSW 10 60,244,789 (GRCm39) splice site probably benign
R3424:Cdh23 UTSW 10 60,212,660 (GRCm39) missense possibly damaging 0.76
R3699:Cdh23 UTSW 10 60,163,149 (GRCm39) critical splice donor site probably null
R3700:Cdh23 UTSW 10 60,163,149 (GRCm39) critical splice donor site probably null
R3950:Cdh23 UTSW 10 60,493,105 (GRCm39) missense probably benign 0.04
R3951:Cdh23 UTSW 10 60,493,105 (GRCm39) missense probably benign 0.04
R3952:Cdh23 UTSW 10 60,493,105 (GRCm39) missense probably benign 0.04
R4108:Cdh23 UTSW 10 60,246,601 (GRCm39) missense possibly damaging 0.51
R4114:Cdh23 UTSW 10 60,256,819 (GRCm39) splice site probably null
R4273:Cdh23 UTSW 10 60,146,940 (GRCm39) missense possibly damaging 0.69
R4284:Cdh23 UTSW 10 60,139,272 (GRCm39) missense possibly damaging 0.91
R4334:Cdh23 UTSW 10 60,220,838 (GRCm39) missense probably damaging 0.99
R4474:Cdh23 UTSW 10 60,146,865 (GRCm39) missense probably damaging 1.00
R4532:Cdh23 UTSW 10 60,370,202 (GRCm39) missense probably benign 0.32
R4597:Cdh23 UTSW 10 60,244,823 (GRCm39) missense probably damaging 1.00
R4604:Cdh23 UTSW 10 60,173,445 (GRCm39) missense possibly damaging 0.93
R4793:Cdh23 UTSW 10 60,167,129 (GRCm39) missense probably damaging 1.00
R4816:Cdh23 UTSW 10 60,244,856 (GRCm39) missense possibly damaging 0.93
R4833:Cdh23 UTSW 10 60,220,817 (GRCm39) missense probably damaging 1.00
R4840:Cdh23 UTSW 10 60,255,556 (GRCm39) missense possibly damaging 0.53
R4857:Cdh23 UTSW 10 60,227,563 (GRCm39) missense probably damaging 1.00
R4869:Cdh23 UTSW 10 60,212,713 (GRCm39) missense probably damaging 1.00
R4894:Cdh23 UTSW 10 60,173,630 (GRCm39) missense probably benign 0.04
R4940:Cdh23 UTSW 10 60,143,714 (GRCm39) missense probably damaging 0.98
R5020:Cdh23 UTSW 10 60,143,811 (GRCm39) missense probably damaging 0.99
R5026:Cdh23 UTSW 10 60,140,627 (GRCm39) missense possibly damaging 0.88
R5081:Cdh23 UTSW 10 60,272,586 (GRCm39) missense possibly damaging 0.89
R5138:Cdh23 UTSW 10 60,148,061 (GRCm39) missense probably damaging 1.00
R5236:Cdh23 UTSW 10 60,148,351 (GRCm39) missense probably damaging 1.00
R5361:Cdh23 UTSW 10 60,493,044 (GRCm39) critical splice donor site probably null
R5384:Cdh23 UTSW 10 60,173,541 (GRCm39) missense probably damaging 0.99
R5500:Cdh23 UTSW 10 60,150,090 (GRCm39) missense probably damaging 1.00
R5512:Cdh23 UTSW 10 60,370,165 (GRCm39) splice site probably null
R5673:Cdh23 UTSW 10 60,143,636 (GRCm39) missense probably damaging 1.00
R5720:Cdh23 UTSW 10 60,228,802 (GRCm39) missense possibly damaging 0.71
R5726:Cdh23 UTSW 10 60,243,259 (GRCm39) missense probably damaging 0.98
R5732:Cdh23 UTSW 10 60,167,096 (GRCm39) missense possibly damaging 0.80
R5739:Cdh23 UTSW 10 60,141,388 (GRCm39) missense probably damaging 0.99
R5760:Cdh23 UTSW 10 60,242,171 (GRCm39) missense probably damaging 0.99
R5793:Cdh23 UTSW 10 60,141,907 (GRCm39) missense probably damaging 1.00
R5880:Cdh23 UTSW 10 60,220,713 (GRCm39) missense probably damaging 1.00
R5905:Cdh23 UTSW 10 60,370,314 (GRCm39) missense probably damaging 0.98
R5907:Cdh23 UTSW 10 60,264,158 (GRCm39) missense probably damaging 1.00
R5910:Cdh23 UTSW 10 60,213,600 (GRCm39) missense possibly damaging 0.81
R5932:Cdh23 UTSW 10 60,228,763 (GRCm39) missense probably damaging 1.00
R5996:Cdh23 UTSW 10 60,249,356 (GRCm39) missense possibly damaging 0.85
R6015:Cdh23 UTSW 10 60,143,761 (GRCm39) missense probably damaging 0.97
R6020:Cdh23 UTSW 10 60,167,105 (GRCm39) missense probably damaging 1.00
R6023:Cdh23 UTSW 10 60,301,321 (GRCm39) missense probably damaging 1.00
R6028:Cdh23 UTSW 10 60,370,314 (GRCm39) missense probably damaging 0.98
R6066:Cdh23 UTSW 10 60,269,537 (GRCm39) missense probably damaging 1.00
R6137:Cdh23 UTSW 10 60,270,291 (GRCm39) missense probably damaging 0.96
R6211:Cdh23 UTSW 10 60,246,600 (GRCm39) missense possibly damaging 0.90
R6298:Cdh23 UTSW 10 60,262,451 (GRCm39) nonsense probably null
R6302:Cdh23 UTSW 10 60,140,872 (GRCm39) missense possibly damaging 0.74
R6338:Cdh23 UTSW 10 60,248,930 (GRCm39) missense probably damaging 1.00
R6356:Cdh23 UTSW 10 60,274,626 (GRCm39) missense probably damaging 1.00
R6441:Cdh23 UTSW 10 60,143,815 (GRCm39) missense probably damaging 1.00
R6714:Cdh23 UTSW 10 60,167,609 (GRCm39) missense possibly damaging 0.62
R6760:Cdh23 UTSW 10 60,141,947 (GRCm39) missense probably damaging 1.00
R6807:Cdh23 UTSW 10 60,214,650 (GRCm39) missense possibly damaging 0.95
R6855:Cdh23 UTSW 10 60,141,901 (GRCm39) missense possibly damaging 0.66
R6937:Cdh23 UTSW 10 60,322,893 (GRCm39) missense probably damaging 1.00
R6942:Cdh23 UTSW 10 60,274,635 (GRCm39) missense possibly damaging 0.93
R6961:Cdh23 UTSW 10 60,485,893 (GRCm39) missense probably benign 0.00
R7009:Cdh23 UTSW 10 60,173,085 (GRCm39) missense probably damaging 0.99
R7010:Cdh23 UTSW 10 60,366,770 (GRCm39) missense probably benign 0.03
R7032:Cdh23 UTSW 10 60,167,567 (GRCm39) missense probably damaging 1.00
R7046:Cdh23 UTSW 10 60,214,530 (GRCm39) missense probably damaging 1.00
R7111:Cdh23 UTSW 10 60,222,823 (GRCm39) missense probably damaging 1.00
R7196:Cdh23 UTSW 10 60,143,759 (GRCm39) missense probably damaging 0.99
R7198:Cdh23 UTSW 10 60,148,378 (GRCm39) missense possibly damaging 0.91
R7223:Cdh23 UTSW 10 60,167,596 (GRCm39) missense probably damaging 1.00
R7290:Cdh23 UTSW 10 60,212,620 (GRCm39) missense probably benign
R7335:Cdh23 UTSW 10 60,140,895 (GRCm39) missense probably damaging 1.00
R7340:Cdh23 UTSW 10 60,366,775 (GRCm39) missense probably benign 0.19
R7350:Cdh23 UTSW 10 60,246,689 (GRCm39) missense probably damaging 1.00
R7366:Cdh23 UTSW 10 60,151,471 (GRCm39) nonsense probably null
R7374:Cdh23 UTSW 10 60,153,679 (GRCm39) missense probably damaging 0.99
R7455:Cdh23 UTSW 10 60,142,003 (GRCm39) missense possibly damaging 0.82
R7537:Cdh23 UTSW 10 60,220,724 (GRCm39) missense probably benign 0.17
R7573:Cdh23 UTSW 10 60,159,329 (GRCm39) missense probably benign 0.17
R7578:Cdh23 UTSW 10 60,243,186 (GRCm39) missense probably benign 0.14
R7646:Cdh23 UTSW 10 60,140,931 (GRCm39) missense possibly damaging 0.95
R7703:Cdh23 UTSW 10 60,173,043 (GRCm39) missense probably damaging 1.00
R7763:Cdh23 UTSW 10 60,148,356 (GRCm39) missense probably damaging 1.00
R7797:Cdh23 UTSW 10 60,220,973 (GRCm39) missense probably benign 0.07
R7867:Cdh23 UTSW 10 60,150,390 (GRCm39) missense probably damaging 1.00
R7878:Cdh23 UTSW 10 60,149,979 (GRCm39) missense possibly damaging 0.69
R7915:Cdh23 UTSW 10 60,143,668 (GRCm39) missense probably damaging 0.97
R7922:Cdh23 UTSW 10 60,218,485 (GRCm39) missense probably benign 0.31
R7963:Cdh23 UTSW 10 60,171,967 (GRCm39) missense probably damaging 1.00
R7997:Cdh23 UTSW 10 60,432,518 (GRCm39) missense possibly damaging 0.81
R8167:Cdh23 UTSW 10 60,150,162 (GRCm39) missense probably benign 0.12
R8167:Cdh23 UTSW 10 60,173,472 (GRCm39) missense probably damaging 0.96
R8258:Cdh23 UTSW 10 60,151,435 (GRCm39) missense probably damaging 0.99
R8259:Cdh23 UTSW 10 60,151,435 (GRCm39) missense probably damaging 0.99
R8317:Cdh23 UTSW 10 60,272,568 (GRCm39) missense probably damaging 1.00
R8317:Cdh23 UTSW 10 60,147,037 (GRCm39) critical splice donor site probably null
R8326:Cdh23 UTSW 10 60,274,591 (GRCm39) missense possibly damaging 0.55
R8333:Cdh23 UTSW 10 60,150,390 (GRCm39) missense probably damaging 1.00
R8348:Cdh23 UTSW 10 60,167,507 (GRCm39) missense probably benign 0.43
R8366:Cdh23 UTSW 10 60,160,799 (GRCm39) missense probably benign
R8504:Cdh23 UTSW 10 60,274,618 (GRCm39) missense probably benign 0.00
R8676:Cdh23 UTSW 10 60,246,689 (GRCm39) missense probably damaging 1.00
R8781:Cdh23 UTSW 10 60,167,567 (GRCm39) missense probably damaging 1.00
R8785:Cdh23 UTSW 10 60,147,114 (GRCm39) missense probably damaging 1.00
R8788:Cdh23 UTSW 10 60,324,372 (GRCm39) missense probably damaging 1.00
R8802:Cdh23 UTSW 10 60,244,877 (GRCm39) missense probably benign 0.04
R8837:Cdh23 UTSW 10 60,160,755 (GRCm39) missense probably benign 0.28
R8863:Cdh23 UTSW 10 60,212,613 (GRCm39) nonsense probably null
R8889:Cdh23 UTSW 10 60,143,284 (GRCm39) missense probably damaging 0.97
R8892:Cdh23 UTSW 10 60,143,284 (GRCm39) missense probably damaging 0.97
R8921:Cdh23 UTSW 10 60,140,908 (GRCm39) missense probably damaging 0.99
R8980:Cdh23 UTSW 10 60,173,625 (GRCm39) missense probably benign 0.06
R9000:Cdh23 UTSW 10 60,140,277 (GRCm39) missense possibly damaging 0.82
R9043:Cdh23 UTSW 10 60,151,478 (GRCm39) missense probably benign 0.00
R9046:Cdh23 UTSW 10 60,218,303 (GRCm39) intron probably benign
R9070:Cdh23 UTSW 10 60,173,539 (GRCm39) missense probably benign
R9075:Cdh23 UTSW 10 60,153,541 (GRCm39) missense probably damaging 1.00
R9132:Cdh23 UTSW 10 60,270,283 (GRCm39) splice site probably benign
R9155:Cdh23 UTSW 10 60,249,485 (GRCm39) missense probably damaging 0.99
R9171:Cdh23 UTSW 10 60,161,810 (GRCm39) missense probably benign 0.00
R9179:Cdh23 UTSW 10 60,153,664 (GRCm39) missense probably benign 0.06
R9186:Cdh23 UTSW 10 60,143,306 (GRCm39) missense possibly damaging 0.54
R9189:Cdh23 UTSW 10 60,143,306 (GRCm39) missense possibly damaging 0.54
R9207:Cdh23 UTSW 10 60,243,210 (GRCm39) missense probably damaging 1.00
R9240:Cdh23 UTSW 10 60,215,044 (GRCm39) missense probably benign 0.00
R9244:Cdh23 UTSW 10 60,249,442 (GRCm39) missense possibly damaging 0.93
R9284:Cdh23 UTSW 10 60,143,306 (GRCm39) missense possibly damaging 0.54
R9286:Cdh23 UTSW 10 60,143,306 (GRCm39) missense possibly damaging 0.54
R9287:Cdh23 UTSW 10 60,143,306 (GRCm39) missense possibly damaging 0.54
R9302:Cdh23 UTSW 10 60,143,306 (GRCm39) missense possibly damaging 0.54
R9352:Cdh23 UTSW 10 60,143,306 (GRCm39) missense possibly damaging 0.54
R9353:Cdh23 UTSW 10 60,143,306 (GRCm39) missense possibly damaging 0.54
R9423:Cdh23 UTSW 10 60,148,387 (GRCm39) missense probably damaging 1.00
R9513:Cdh23 UTSW 10 60,166,995 (GRCm39) missense probably damaging 0.99
R9577:Cdh23 UTSW 10 60,146,895 (GRCm39) missense probably damaging 1.00
R9598:Cdh23 UTSW 10 60,214,574 (GRCm39) missense probably benign 0.01
R9631:Cdh23 UTSW 10 60,243,168 (GRCm39) missense possibly damaging 0.49
R9652:Cdh23 UTSW 10 60,167,135 (GRCm39) missense probably damaging 1.00
R9725:Cdh23 UTSW 10 60,432,561 (GRCm39) missense probably benign 0.02
X0052:Cdh23 UTSW 10 60,220,913 (GRCm39) missense probably damaging 1.00
Z1088:Cdh23 UTSW 10 60,249,423 (GRCm39) missense probably benign 0.35
Z1176:Cdh23 UTSW 10 60,264,100 (GRCm39) missense probably benign
Z1176:Cdh23 UTSW 10 60,146,549 (GRCm39) missense probably damaging 1.00
Z1177:Cdh23 UTSW 10 60,270,393 (GRCm39) critical splice acceptor site probably null
Z1177:Cdh23 UTSW 10 60,159,334 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- TGGAGATGAACACTTCTGCCACAC -3'
(R):5'- ACCATCCTGATCGACGACATCAATG -3'

Sequencing Primer
(F):5'- agggaaagagaaagaggaagaag -3'
(R):5'- TGATCGACGACATCAATGACTCC -3'
Genotyping

NOTE: These primers have not been validated.

Genotyping is performed by amplifying the region containing the mutation using PCR, followed by sequencing of the amplified region to detect the single nucleotide transversion.
 

PCR Primers

R06470043_PCR_F: 5’- TGGAGATGAACACTTCTGCCACAC-3’

R06470043_PCR_R: 5’- ACCATCCTGATCGACGACATCAATG-3’

Sequencing Primers

R06470043_SEQ_F: 5’- agggaaagagaaagaggaagaag-3’
 

R06470043_SEQ_R: 5’- TGATCGACGACATCAATGACTCC-3’
 

PCR program

1) 94°C             2:00

2) 94°C             0:30

3) 55°C             0:30

4) 72°C             1:00

5) repeat steps (2-4) 40X

6) 72°C             10:00

7) 4°C               hold

The following sequence of 483 nucleotides is amplified (NCBI RefSeq: NC_000076, chromosome 10:60323038-60323520):

tggagatgaa cacttctgcc acactgcagg ctgtaggagc cagagagggt ggtggatggc       

ggaggtgagg gcccggcagc aggggagcaa ggaaaggaag agggatggag acacatccat       

agaggataag accacaagtg cacaaaggga aagagaaaga ggaagaaggg gaaggaagga      

gagagggagg agggagcaag gactctgggt ttgggtcagg agagggtgct agagcacagc      

caccttcgta cctgtattga tattcacagc aaaggcgtct tcctggtcag gcaccaggcg      

gtcggtgtca tccttggcca cgatgctgat gatgtgatac tccagtttgg ggttgaggtc      

gagatcgatg gcggtgacat tggcaatgat ggtgcctggc tctgcggatt ccagcacgct      

cactgtctgg atagggttga ggaactcggg ccgggagtca ttgatgtcgt cgatcaggat      

ggt

Primer binding sites are underlined and the sequencing primer is highlighted; the mutated nucleotide is shown in red text (Chr. + strand, A>T).

Posted On 2013-07-11