Incidental Mutation 'R1892:Cdh16'
ID 211606
Institutional Source Beutler Lab
Gene Symbol Cdh16
Ensembl Gene ENSMUSG00000031881
Gene Name cadherin 16
Synonyms KSP-cadherin
MMRRC Submission 039912-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R1892 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 105328547-105351028 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105344631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 500 (I500N)
Ref Sequence ENSEMBL: ENSMUSP00000148478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163783] [ENSMUST00000211849] [ENSMUST00000211903] [ENSMUST00000212045] [ENSMUST00000212882] [ENSMUST00000212420] [ENSMUST00000213033] [ENSMUST00000212447] [ENSMUST00000212748] [ENSMUST00000212324] [ENSMUST00000212662]
AlphaFold O88338
Predicted Effect possibly damaging
Transcript: ENSMUST00000163783
AA Change: I470N

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129663
Gene: ENSMUSG00000031881
AA Change: I470N

DomainStartEndE-ValueType
CA 47 126 2.42e-9 SMART
CA 150 243 3.93e-9 SMART
CA 260 336 5.52e-13 SMART
CA 360 449 1.33e-15 SMART
CA 474 563 3.35e-1 SMART
CA 585 663 7.88e-1 SMART
transmembrane domain 788 810 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211849
Predicted Effect probably benign
Transcript: ENSMUST00000211889
Predicted Effect possibly damaging
Transcript: ENSMUST00000211903
AA Change: I500N

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000212045
Predicted Effect probably benign
Transcript: ENSMUST00000212318
Predicted Effect possibly damaging
Transcript: ENSMUST00000212882
AA Change: I500N

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000212420
AA Change: I41N

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000213033
Predicted Effect probably benign
Transcript: ENSMUST00000212447
Predicted Effect probably benign
Transcript: ENSMUST00000212748
Predicted Effect probably benign
Transcript: ENSMUST00000212324
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212689
Predicted Effect probably benign
Transcript: ENSMUST00000212662
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
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, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 119,815,561 (GRCm39) A270T probably benign Het
Abcb7 A T X: 103,386,142 (GRCm39) H97Q probably damaging Het
Adat3 T C 10: 80,442,249 (GRCm39) L29P probably damaging Het
AI987944 A T 7: 41,024,020 (GRCm39) C320S probably damaging Het
Asic4 C T 1: 75,446,126 (GRCm39) R285W probably damaging Het
Asic5 A T 3: 81,928,293 (GRCm39) I419L probably damaging Het
Batf A G 12: 85,736,102 (GRCm39) K42E probably damaging Het
Bcar3 A G 3: 122,301,785 (GRCm39) N160S probably benign Het
Bco2 C A 9: 50,461,863 (GRCm39) G47V probably damaging Het
Bicc1 T G 10: 70,794,614 (GRCm39) K181T probably damaging Het
Brinp2 A G 1: 158,082,542 (GRCm39) probably null Het
Cacng8 A G 7: 3,463,568 (GRCm39) D240G possibly damaging Het
Calca A G 7: 114,232,962 (GRCm39) Y96H probably damaging Het
Cdh1 A T 8: 107,390,882 (GRCm39) K666I possibly damaging Het
Chst14 A G 2: 118,757,830 (GRCm39) Y208C probably damaging Het
Chst9 T C 18: 15,586,017 (GRCm39) H182R probably damaging Het
Clk2 A G 3: 89,082,502 (GRCm39) I367M possibly damaging Het
Cobl G C 11: 12,203,258 (GRCm39) S1066W probably damaging Het
Ctcfl A G 2: 172,960,478 (GRCm39) V35A probably benign Het
Dchs1 G T 7: 105,413,363 (GRCm39) H1151N probably benign Het
Dennd1c T C 17: 57,374,083 (GRCm39) T529A probably benign Het
Dnah11 A T 12: 118,070,209 (GRCm39) V1532D possibly damaging Het
Dync1h1 A G 12: 110,612,738 (GRCm39) Y2871C probably damaging Het
Dytn T C 1: 63,716,420 (GRCm39) E51G probably benign Het
Esd C T 14: 74,987,113 (GRCm39) A266V probably damaging Het
Gli1 T C 10: 127,165,975 (GRCm39) M1093V possibly damaging Het
Gm15446 A G 5: 110,091,253 (GRCm39) K502E probably damaging Het
Gm4076 T A 13: 85,275,447 (GRCm39) noncoding transcript Het
Gm9830 A G 9: 44,375,825 (GRCm39) noncoding transcript Het
Gm9938 G A 19: 23,701,955 (GRCm39) probably benign Het
Grhl1 G A 12: 24,634,909 (GRCm39) R245H probably damaging Het
Hnrnpul1 A T 7: 25,426,191 (GRCm39) D553E probably benign Het
Hpn G A 7: 30,798,468 (GRCm39) Q415* probably null Het
Hsd11b1 T G 1: 192,906,068 (GRCm39) M175L probably benign Het
Htra1 G A 7: 130,586,799 (GRCm39) V461I possibly damaging Het
Il1rl2 A G 1: 40,366,694 (GRCm39) H76R probably damaging Het
Insrr G A 3: 87,721,184 (GRCm39) V1112M probably damaging Het
Ints9 T C 14: 65,257,872 (GRCm39) S351P probably benign Het
Itgav T A 2: 83,601,680 (GRCm39) N350K probably damaging Het
Kdm4d C A 9: 14,375,613 (GRCm39) V82L probably benign Het
Klc1 T C 12: 111,748,261 (GRCm39) probably null Het
Kmt5c T A 7: 4,745,714 (GRCm39) C69* probably null Het
Lgals3 T G 14: 47,622,164 (GRCm39) N193K possibly damaging Het
Morc2b T A 17: 33,354,748 (GRCm39) D1008V probably damaging Het
Mpg C T 11: 32,181,720 (GRCm39) Q243* probably null Het
Muc15 C T 2: 110,567,697 (GRCm39) R281* probably null Het
Ncstn CAGCTCCACGAAG CAG 1: 171,899,038 (GRCm39) probably null Het
Nek5 A G 8: 22,597,745 (GRCm39) M278T probably benign Het
Npas2 A G 1: 39,384,503 (GRCm39) T599A probably benign Het
Nrf1 A G 6: 30,144,787 (GRCm39) D519G probably null Het
Nup43 A G 10: 7,549,373 (GRCm39) H176R probably damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or10j3 T C 1: 173,031,795 (GRCm39) Y291H probably damaging Het
Or5p72 A T 7: 108,022,147 (GRCm39) Y123F possibly damaging Het
Or6c75 A C 10: 129,336,902 (GRCm39) I50L probably benign Het
Perm1 C T 4: 156,302,340 (GRCm39) R295C probably benign Het
Pik3ip1 G T 11: 3,283,304 (GRCm39) A135S probably damaging Het
Pira13 A C 7: 3,827,573 (GRCm39) C195G probably benign Het
Ppp4c A G 7: 126,385,452 (GRCm39) V119A probably damaging Het
Prepl A G 17: 85,395,878 (GRCm39) Y35H possibly damaging Het
Ptpn13 A G 5: 103,649,545 (GRCm39) Y316C possibly damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Ranbp2 T C 10: 58,299,921 (GRCm39) V491A probably benign Het
Ranbp9 C A 13: 43,569,933 (GRCm39) C495F possibly damaging Het
Rfx8 A T 1: 39,709,746 (GRCm39) probably null Het
Rnf111 T A 9: 70,383,656 (GRCm39) K92N probably damaging Het
Rtn1 A G 12: 72,259,337 (GRCm39) I772T probably damaging Het
Ryr2 T A 13: 11,673,844 (GRCm39) K72* probably null Het
Sergef A T 7: 46,264,040 (GRCm39) probably null Het
Sez6l T C 5: 112,620,665 (GRCm39) N305S probably damaging Het
Slc40a1 A T 1: 45,950,302 (GRCm39) C383* probably null Het
Stab2 C T 10: 86,773,913 (GRCm39) C806Y probably damaging Het
Stard9 A G 2: 120,524,189 (GRCm39) T795A probably benign Het
Stk31 T C 6: 49,415,408 (GRCm39) I536T probably damaging Het
Stox1 T A 10: 62,501,178 (GRCm39) T461S possibly damaging Het
Suv39h2 T C 2: 3,460,805 (GRCm39) Y219C probably damaging Het
Tap1 T G 17: 34,413,915 (GRCm39) D643E probably damaging Het
Tbc1d2b T A 9: 90,100,996 (GRCm39) I665F probably damaging Het
Tdrd6 T C 17: 43,935,696 (GRCm39) N1784S probably benign Het
Tmem14c T C 13: 41,174,633 (GRCm39) F81L possibly damaging Het
Tnrc6c A G 11: 117,605,188 (GRCm39) N108D probably benign Het
Tox3 A T 8: 90,996,869 (GRCm39) N131K probably benign Het
Tspear T A 10: 77,706,308 (GRCm39) D359E probably benign Het
Ttc9 A G 12: 81,678,551 (GRCm39) I125V probably benign Het
Ttn A T 2: 76,728,531 (GRCm39) probably benign Het
Ubn2 C T 6: 38,468,226 (GRCm39) S980F probably damaging Het
Vcf1 G T 11: 113,554,212 (GRCm39) P161H probably damaging Het
Zfp362 T A 4: 128,684,057 (GRCm39) T30S probably benign Het
Zfp385c A C 11: 100,528,630 (GRCm39) H32Q probably damaging Het
Zfp870 A T 17: 33,102,863 (GRCm39) H156Q possibly damaging Het
Zfp873 T C 10: 81,897,080 (GRCm39) C641R probably damaging Het
Zfp950 A T 19: 61,107,549 (GRCm39) H511Q probably benign Het
Other mutations in Cdh16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Cdh16 APN 8 105,350,045 (GRCm39) missense probably benign 0.00
IGL01406:Cdh16 APN 8 105,345,044 (GRCm39) missense possibly damaging 0.93
IGL01477:Cdh16 APN 8 105,345,140 (GRCm39) missense probably damaging 0.97
IGL01478:Cdh16 APN 8 105,341,120 (GRCm39) splice site probably benign
IGL01783:Cdh16 APN 8 105,344,488 (GRCm39) missense probably damaging 1.00
IGL01951:Cdh16 APN 8 105,344,323 (GRCm39) missense probably damaging 0.99
IGL02390:Cdh16 APN 8 105,348,606 (GRCm39) missense probably damaging 1.00
IGL02646:Cdh16 APN 8 105,348,737 (GRCm39) critical splice acceptor site probably null
IGL02938:Cdh16 APN 8 105,343,561 (GRCm39) intron probably benign
IGL02961:Cdh16 APN 8 105,341,837 (GRCm39) missense probably damaging 1.00
IGL03378:Cdh16 APN 8 105,345,917 (GRCm39) missense probably benign 0.09
PIT1430001:Cdh16 UTSW 8 105,344,271 (GRCm39) missense probably benign 0.05
R0016:Cdh16 UTSW 8 105,344,264 (GRCm39) missense probably benign 0.22
R1233:Cdh16 UTSW 8 105,345,114 (GRCm39) missense possibly damaging 0.89
R1470:Cdh16 UTSW 8 105,345,003 (GRCm39) missense probably benign 0.04
R1470:Cdh16 UTSW 8 105,345,003 (GRCm39) missense probably benign 0.04
R1490:Cdh16 UTSW 8 105,348,702 (GRCm39) missense probably damaging 1.00
R1752:Cdh16 UTSW 8 105,346,505 (GRCm39) critical splice donor site probably null
R1913:Cdh16 UTSW 8 105,343,100 (GRCm39) missense probably benign 0.11
R1933:Cdh16 UTSW 8 105,344,595 (GRCm39) missense possibly damaging 0.71
R1934:Cdh16 UTSW 8 105,344,595 (GRCm39) missense possibly damaging 0.71
R2029:Cdh16 UTSW 8 105,344,434 (GRCm39) missense probably damaging 1.00
R2057:Cdh16 UTSW 8 105,348,597 (GRCm39) nonsense probably null
R2337:Cdh16 UTSW 8 105,348,902 (GRCm39) missense probably benign 0.09
R3848:Cdh16 UTSW 8 105,344,473 (GRCm39) missense possibly damaging 0.64
R3850:Cdh16 UTSW 8 105,344,473 (GRCm39) missense possibly damaging 0.64
R3892:Cdh16 UTSW 8 105,342,959 (GRCm39) missense probably damaging 1.00
R4167:Cdh16 UTSW 8 105,344,362 (GRCm39) missense probably benign 0.02
R4577:Cdh16 UTSW 8 105,345,191 (GRCm39) missense probably damaging 1.00
R4657:Cdh16 UTSW 8 105,341,858 (GRCm39) splice site probably null
R4726:Cdh16 UTSW 8 105,342,664 (GRCm39) missense probably damaging 0.97
R4843:Cdh16 UTSW 8 105,348,172 (GRCm39) missense probably damaging 1.00
R4878:Cdh16 UTSW 8 105,344,696 (GRCm39) missense probably damaging 1.00
R5013:Cdh16 UTSW 8 105,343,660 (GRCm39) missense probably damaging 1.00
R5642:Cdh16 UTSW 8 105,344,677 (GRCm39) missense probably damaging 0.98
R6134:Cdh16 UTSW 8 105,342,697 (GRCm39) missense probably benign 0.15
R6311:Cdh16 UTSW 8 105,341,065 (GRCm39) missense probably benign 0.40
R6352:Cdh16 UTSW 8 105,343,624 (GRCm39) missense probably damaging 0.99
R6382:Cdh16 UTSW 8 105,348,175 (GRCm39) missense possibly damaging 0.78
R6713:Cdh16 UTSW 8 105,346,617 (GRCm39) nonsense probably null
R6732:Cdh16 UTSW 8 105,345,165 (GRCm39) missense probably benign 0.28
R6755:Cdh16 UTSW 8 105,345,880 (GRCm39) missense probably damaging 1.00
R6913:Cdh16 UTSW 8 105,348,896 (GRCm39) missense probably benign 0.00
R7037:Cdh16 UTSW 8 105,344,267 (GRCm39) nonsense probably null
R7202:Cdh16 UTSW 8 105,340,780 (GRCm39) missense unknown
R7413:Cdh16 UTSW 8 105,346,572 (GRCm39) missense probably benign 0.00
R7460:Cdh16 UTSW 8 105,348,923 (GRCm39) missense possibly damaging 0.88
R8017:Cdh16 UTSW 8 105,342,899 (GRCm39) missense probably damaging 1.00
R8187:Cdh16 UTSW 8 105,344,870 (GRCm39) missense probably damaging 1.00
R8261:Cdh16 UTSW 8 105,341,811 (GRCm39) nonsense probably null
R8278:Cdh16 UTSW 8 105,345,107 (GRCm39) missense probably benign 0.39
R8421:Cdh16 UTSW 8 105,348,602 (GRCm39) missense probably benign 0.00
R8491:Cdh16 UTSW 8 105,343,681 (GRCm39) missense probably damaging 1.00
R8725:Cdh16 UTSW 8 105,344,874 (GRCm39) missense probably benign 0.00
R8810:Cdh16 UTSW 8 105,341,136 (GRCm39) missense probably damaging 0.97
R9246:Cdh16 UTSW 8 105,344,602 (GRCm39) missense probably benign
R9267:Cdh16 UTSW 8 105,341,834 (GRCm39) missense probably damaging 1.00
R9661:Cdh16 UTSW 8 105,345,612 (GRCm39) missense probably benign 0.41
R9689:Cdh16 UTSW 8 105,341,108 (GRCm39) missense probably benign
RF005:Cdh16 UTSW 8 105,343,684 (GRCm39) missense probably damaging 1.00
RF024:Cdh16 UTSW 8 105,343,684 (GRCm39) missense probably damaging 1.00
X0067:Cdh16 UTSW 8 105,346,649 (GRCm39) missense probably damaging 1.00
Z1176:Cdh16 UTSW 8 105,341,817 (GRCm39) missense probably damaging 1.00
Z1177:Cdh16 UTSW 8 105,350,072 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ACCACCTTGTGATCAGGAGC -3'
(R):5'- CCCTGAGTTCATCAATTCCCAGG -3'

Sequencing Primer
(F):5'- TGATCAGGAGCTGCCTCATAG -3'
(R):5'- CTGAGTTCATCAATTCCCAGGTAAGC -3'
Posted On 2014-06-30