Incidental Mutation 'R4970:Cdh19'
ID 384325
Institutional Source Beutler Lab
Gene Symbol Cdh19
Ensembl Gene ENSMUSG00000047216
Gene Name cadherin 19, type 2
Synonyms
MMRRC Submission 042565-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4970 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 110816056-110905314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110882354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 46 (V46A)
Ref Sequence ENSEMBL: ENSMUSP00000092210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094626]
AlphaFold E9Q3A7
Predicted Effect possibly damaging
Transcript: ENSMUST00000094626
AA Change: V46A

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
AA Change: V46A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
CA 64 144 2.44e-14 SMART
CA 168 252 3.21e-23 SMART
CA 276 367 6.2e-7 SMART
CA 390 466 2.69e-16 SMART
CA 489 576 6.68e-3 SMART
transmembrane domain 594 616 N/A INTRINSIC
Pfam:Cadherin_C 619 764 1.7e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194910
Meta Mutation Damage Score 0.2350 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 99% (114/115)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of three related type II cadherin genes situated in a cluster on chromosome 18. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein containing five extracellular cadherin repeats. Loss of cadherins may be associated with cancer formation. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700128F08Rik A G 9: 8,222,066 (GRCm39) noncoding transcript Het
Aars1 A G 8: 111,770,311 (GRCm39) M370V probably benign Het
Abca2 A G 2: 25,328,383 (GRCm39) K846R probably damaging Het
Acad9 A T 3: 36,139,674 (GRCm39) I425F probably damaging Het
Adhfe1 C A 1: 9,628,463 (GRCm39) D278E possibly damaging Het
Afg3l1 G A 8: 124,225,392 (GRCm39) V532I probably benign Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Ano7 G A 1: 93,325,085 (GRCm39) V546M possibly damaging Het
Aox1 G A 1: 58,349,254 (GRCm39) probably null Het
Asah1 G T 8: 41,813,314 (GRCm39) S33* probably null Het
Astn1 C T 1: 158,484,763 (GRCm39) S15F possibly damaging Het
Bag4 A T 8: 26,261,272 (GRCm39) Y156* probably null Het
Bmpr1b T C 3: 141,550,948 (GRCm39) E381G probably damaging Het
Btnl7-ps A G 17: 34,756,092 (GRCm39) noncoding transcript Het
Caap1 A T 4: 94,409,297 (GRCm39) probably null Het
Card10 C T 15: 78,686,580 (GRCm39) probably null Het
Ccp110 T C 7: 118,321,614 (GRCm39) V423A possibly damaging Het
Cdc123 A G 2: 5,809,748 (GRCm39) L221P possibly damaging Het
Cfap57 A G 4: 118,477,568 (GRCm39) F12S probably damaging Het
Clvs1 A G 4: 9,350,857 (GRCm39) probably benign Het
Dgkh A T 14: 78,856,077 (GRCm39) V199E probably damaging Het
Dhx32 T A 7: 133,340,384 (GRCm39) probably benign Het
Dpf3 G T 12: 83,417,385 (GRCm39) S29* probably null Het
Efcab7 C A 4: 99,719,780 (GRCm39) S87R probably damaging Het
Fam81a G A 9: 70,000,872 (GRCm39) Q291* probably null Het
Fbxo41 G T 6: 85,454,906 (GRCm39) N667K probably damaging Het
Flacc1 T C 1: 58,698,441 (GRCm39) T326A probably benign Het
Gm10313 A T 8: 46,708,462 (GRCm39) noncoding transcript Het
Gm28051 G A 12: 102,686,430 (GRCm39) Q77* probably null Het
Gm5535 T A 2: 144,016,569 (GRCm39) noncoding transcript Het
Gtf2ird1 A T 5: 134,431,038 (GRCm39) D339E probably damaging Het
Gvin3 A T 7: 106,199,864 (GRCm39) noncoding transcript Het
Igfbp7 A G 5: 77,555,608 (GRCm39) M85T possibly damaging Het
Il20ra A G 10: 19,634,691 (GRCm39) T311A possibly damaging Het
Il24 T C 1: 130,811,179 (GRCm39) probably null Het
Itch T C 2: 155,027,513 (GRCm39) F379L possibly damaging Het
Itgad T A 7: 127,789,015 (GRCm39) V488D possibly damaging Het
Itpr2 A T 6: 146,135,489 (GRCm39) M1814K possibly damaging Het
Kirrel3 A G 9: 34,855,735 (GRCm39) E92G possibly damaging Het
Lpin2 T C 17: 71,538,329 (GRCm39) V325A probably damaging Het
Lrba C T 3: 86,132,678 (GRCm39) T28M probably benign Het
Lrch3 T C 16: 32,818,883 (GRCm39) Y661H probably damaging Het
Lrfn5 C A 12: 61,886,461 (GRCm39) S83Y probably damaging Het
Lrp1 A C 10: 127,375,389 (GRCm39) L4435R probably benign Het
Lrrn1 A G 6: 107,546,305 (GRCm39) D701G probably benign Het
Map4k3 A T 17: 80,961,332 (GRCm39) Y125N probably benign Het
Mau2 A T 8: 70,480,353 (GRCm39) H273Q possibly damaging Het
Med16 A C 10: 79,742,871 (GRCm39) probably null Het
Mmp17 A G 5: 129,679,229 (GRCm39) H376R possibly damaging Het
Nlrp12 G A 7: 3,289,613 (GRCm39) H300Y possibly damaging Het
Nlrp3 A T 11: 59,439,554 (GRCm39) Y377F probably damaging Het
Notch2 T C 3: 98,008,952 (GRCm39) probably null Het
Nudcd1 A T 15: 44,240,039 (GRCm39) C500* probably null Het
Or52z14 T C 7: 103,253,197 (GRCm39) I112T probably damaging Het
Or5d37 A G 2: 87,923,353 (GRCm39) V309A probably damaging Het
Or6b6 T A 7: 106,570,778 (GRCm39) M258L probably benign Het
Or8g23 A T 9: 38,971,827 (GRCm39) M45K probably benign Het
Or8h9 A T 2: 86,789,698 (GRCm39) Y35N probably damaging Het
Pcdhb20 T A 18: 37,639,824 (GRCm39) N783K probably benign Het
Pclo T A 5: 14,727,896 (GRCm39) probably benign Het
Pdyn T A 2: 129,530,021 (GRCm39) D216V probably damaging Het
Phldb3 A T 7: 24,324,110 (GRCm39) I495F possibly damaging Het
Pmpca A T 2: 26,285,178 (GRCm39) I468F probably damaging Het
Pmpcb G A 5: 21,961,441 (GRCm39) R399H probably damaging Het
Polrmt G T 10: 79,572,421 (GRCm39) H1145N probably damaging Het
Proser1 A G 3: 53,371,727 (GRCm39) D11G probably damaging Het
Ptprc A G 1: 138,022,037 (GRCm39) S544P probably damaging Het
Ptprn2 G A 12: 117,240,215 (GRCm39) E991K probably damaging Het
Pwp2 A C 10: 78,009,527 (GRCm39) L797R possibly damaging Het
Rbm20 G A 19: 53,840,100 (GRCm39) A1030T probably damaging Het
Rdh7 T C 10: 127,721,691 (GRCm39) Y195C probably benign Het
Rev3l T A 10: 39,699,326 (GRCm39) D1274E probably benign Het
Scfd2 G T 5: 74,366,982 (GRCm39) H639Q probably benign Het
Sell T A 1: 163,892,887 (GRCm39) H34Q possibly damaging Het
Senp8 A C 9: 59,644,504 (GRCm39) D204E probably benign Het
Setd2 A G 9: 110,377,226 (GRCm39) D347G probably benign Het
Sh2b1 T A 7: 126,067,975 (GRCm39) R560W probably damaging Het
Slc36a3 T A 11: 55,039,399 (GRCm39) K76N probably damaging Het
Slc6a9 A T 4: 117,713,205 (GRCm39) Y60F probably damaging Het
Slfn10-ps C T 11: 82,921,207 (GRCm39) noncoding transcript Het
Spata31d1d G A 13: 59,875,334 (GRCm39) H734Y probably benign Het
Spmip10 G T 18: 56,725,494 (GRCm39) M46I possibly damaging Het
Spsb1 T A 4: 149,991,612 (GRCm39) probably benign Het
Sptbn5 T A 2: 119,882,258 (GRCm39) noncoding transcript Het
Sugp2 G A 8: 70,712,462 (GRCm39) V1026I possibly damaging Het
Syt14 T A 1: 192,613,285 (GRCm39) probably benign Het
Sytl1 G A 4: 132,982,893 (GRCm39) Q373* probably null Het
Trim38 T A 13: 23,975,312 (GRCm39) L417Q probably damaging Het
Ttll1 T C 15: 83,380,597 (GRCm39) H256R probably damaging Het
Ttyh2 A T 11: 114,587,583 (GRCm39) T195S probably benign Het
Unc119b A G 5: 115,263,553 (GRCm39) L217P probably damaging Het
Usp6nl A G 2: 6,425,714 (GRCm39) K152E probably benign Het
Vcam1 T C 3: 115,910,941 (GRCm39) R486G probably benign Het
Vmn1r225 G A 17: 20,722,831 (GRCm39) G91S possibly damaging Het
Vmn2r1 A C 3: 63,997,544 (GRCm39) Q400P possibly damaging Het
Vmn2r87 A T 10: 130,314,422 (GRCm39) L388Q probably damaging Het
Wnk1 A T 6: 119,942,696 (GRCm39) probably benign Het
Zfp239 A G 6: 117,847,478 (GRCm39) probably benign Het
Zfp688 T C 7: 127,018,327 (GRCm39) Y266C probably damaging Het
Zfp850 A T 7: 27,689,658 (GRCm39) C183* probably null Het
Zscan29 T C 2: 120,999,676 (GRCm39) probably null Het
Other mutations in Cdh19
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Cdh19 APN 1 110,876,982 (GRCm39) missense probably damaging 1.00
IGL00863:Cdh19 APN 1 110,876,874 (GRCm39) missense probably damaging 1.00
IGL01537:Cdh19 APN 1 110,847,341 (GRCm39) missense possibly damaging 0.73
IGL02108:Cdh19 APN 1 110,817,461 (GRCm39) missense probably benign 0.31
IGL02125:Cdh19 APN 1 110,857,614 (GRCm39) missense possibly damaging 0.94
IGL02234:Cdh19 APN 1 110,859,956 (GRCm39) missense probably damaging 1.00
IGL02251:Cdh19 APN 1 110,882,382 (GRCm39) missense probably benign 0.00
IGL02275:Cdh19 APN 1 110,853,616 (GRCm39) missense probably benign 0.21
IGL03203:Cdh19 APN 1 110,817,828 (GRCm39) missense possibly damaging 0.82
R0539:Cdh19 UTSW 1 110,852,892 (GRCm39) missense possibly damaging 0.81
R0594:Cdh19 UTSW 1 110,853,597 (GRCm39) missense probably benign 0.40
R0612:Cdh19 UTSW 1 110,820,900 (GRCm39) splice site probably benign
R1028:Cdh19 UTSW 1 110,882,314 (GRCm39) missense probably benign 0.03
R1627:Cdh19 UTSW 1 110,847,375 (GRCm39) missense probably benign 0.16
R1728:Cdh19 UTSW 1 110,821,114 (GRCm39) missense probably damaging 0.98
R1729:Cdh19 UTSW 1 110,821,114 (GRCm39) missense probably damaging 0.98
R1730:Cdh19 UTSW 1 110,821,114 (GRCm39) missense probably damaging 0.98
R1739:Cdh19 UTSW 1 110,821,114 (GRCm39) missense probably damaging 0.98
R1762:Cdh19 UTSW 1 110,821,114 (GRCm39) missense probably damaging 0.98
R1783:Cdh19 UTSW 1 110,821,114 (GRCm39) missense probably damaging 0.98
R1785:Cdh19 UTSW 1 110,821,114 (GRCm39) missense probably damaging 0.98
R1974:Cdh19 UTSW 1 110,817,889 (GRCm39) missense possibly damaging 0.50
R2119:Cdh19 UTSW 1 110,847,320 (GRCm39) missense probably benign 0.00
R3026:Cdh19 UTSW 1 110,882,418 (GRCm39) missense probably benign 0.03
R3037:Cdh19 UTSW 1 110,882,337 (GRCm39) missense probably damaging 1.00
R3612:Cdh19 UTSW 1 110,821,026 (GRCm39) missense probably damaging 1.00
R4254:Cdh19 UTSW 1 110,852,760 (GRCm39) missense probably damaging 1.00
R4368:Cdh19 UTSW 1 110,817,442 (GRCm39) nonsense probably null
R4624:Cdh19 UTSW 1 110,859,981 (GRCm39) missense probably benign 0.25
R4648:Cdh19 UTSW 1 110,852,907 (GRCm39) missense probably benign 0.04
R4720:Cdh19 UTSW 1 110,823,111 (GRCm39) critical splice donor site probably null
R4766:Cdh19 UTSW 1 110,820,990 (GRCm39) missense probably benign 0.39
R4937:Cdh19 UTSW 1 110,817,694 (GRCm39) missense probably damaging 1.00
R4968:Cdh19 UTSW 1 110,852,958 (GRCm39) missense probably benign 0.08
R5095:Cdh19 UTSW 1 110,882,391 (GRCm39) missense probably benign
R5112:Cdh19 UTSW 1 110,882,354 (GRCm39) missense possibly damaging 0.68
R5586:Cdh19 UTSW 1 110,857,587 (GRCm39) missense probably damaging 1.00
R6431:Cdh19 UTSW 1 110,852,787 (GRCm39) missense probably benign 0.00
R6595:Cdh19 UTSW 1 110,853,517 (GRCm39) missense probably benign 0.15
R6997:Cdh19 UTSW 1 110,882,596 (GRCm39) start gained probably benign
R7240:Cdh19 UTSW 1 110,821,137 (GRCm39) missense probably benign
R8252:Cdh19 UTSW 1 110,817,615 (GRCm39) missense probably benign 0.00
R8299:Cdh19 UTSW 1 110,847,278 (GRCm39) missense probably benign 0.01
R8416:Cdh19 UTSW 1 110,853,610 (GRCm39) missense probably benign 0.13
R8766:Cdh19 UTSW 1 110,817,844 (GRCm39) missense probably benign 0.33
R9090:Cdh19 UTSW 1 110,876,947 (GRCm39) missense probably damaging 1.00
R9177:Cdh19 UTSW 1 110,877,111 (GRCm39) missense probably damaging 1.00
R9266:Cdh19 UTSW 1 110,817,771 (GRCm39) missense probably damaging 1.00
R9268:Cdh19 UTSW 1 110,877,111 (GRCm39) missense probably damaging 1.00
R9271:Cdh19 UTSW 1 110,876,947 (GRCm39) missense probably damaging 1.00
R9533:Cdh19 UTSW 1 110,817,589 (GRCm39) missense probably damaging 1.00
R9560:Cdh19 UTSW 1 110,821,004 (GRCm39) missense possibly damaging 0.61
R9765:Cdh19 UTSW 1 110,823,111 (GRCm39) critical splice donor site probably null
Z1176:Cdh19 UTSW 1 110,859,944 (GRCm39) missense probably damaging 0.99
Z1176:Cdh19 UTSW 1 110,823,117 (GRCm39) missense probably damaging 1.00
Z1176:Cdh19 UTSW 1 110,821,036 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGACTGCTTTGGTCCATTGTAAC -3'
(R):5'- TGTTCCTTTCTAGAATAAGAGCTGG -3'

Sequencing Primer
(F):5'- GCTTTGGTCCATTGTAACAAATAAC -3'
(R):5'- CCTTTCTAGAATAAGAGCTGGAATCC -3'
Posted On 2016-04-27