Incidental Mutation 'R5112:Cdh19'
ID 393889
Institutional Source Beutler Lab
Gene Symbol Cdh19
Ensembl Gene ENSMUSG00000047216
Gene Name cadherin 19, type 2
Synonyms
MMRRC Submission 042700-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5112 (G1)
Quality Score 225
Status Not 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: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.6%
Validation Efficiency
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,328,383 (GRCm39) K846R probably damaging Het
Acsbg3 T A 17: 57,184,465 (GRCm39) M80K probably benign Het
Acsm5 A G 7: 119,136,502 (GRCm39) K358E possibly damaging Het
Adam26a A T 8: 44,021,893 (GRCm39) D532E probably benign Het
Adamts19 C T 18: 59,164,876 (GRCm39) R993* probably null Het
Akr1c13 A G 13: 4,244,151 (GRCm39) K68R possibly damaging Het
Amer3 T A 1: 34,626,157 (GRCm39) M132K possibly damaging Het
Ankrd2 A G 19: 42,028,326 (GRCm39) D38G possibly 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
Apc T A 18: 34,449,162 (GRCm39) C1985* probably null Het
Astn1 C T 1: 158,484,763 (GRCm39) S15F possibly damaging Het
Atp13a4 A T 16: 29,228,686 (GRCm39) N950K possibly damaging Het
Bcl6 A G 16: 23,791,496 (GRCm39) V286A probably benign Het
Brox T A 1: 183,073,541 (GRCm39) T79S probably benign Het
C2cd3 A T 7: 100,092,692 (GRCm39) I512F possibly damaging Het
Camta1 A G 4: 151,158,511 (GRCm39) L542S probably damaging Het
Capn13 GCA G 17: 73,658,501 (GRCm39) probably null Het
Card10 C T 15: 78,686,580 (GRCm39) probably null Het
Cd96 A G 16: 45,919,301 (GRCm39) M240T probably benign Het
Cdc123 A G 2: 5,809,748 (GRCm39) L221P possibly damaging Het
Clcn3 G A 8: 61,407,586 (GRCm39) H24Y probably benign Het
Col11a2 T C 17: 34,283,062 (GRCm39) probably benign Het
Cpsf3 A T 12: 21,341,785 (GRCm39) M50L probably benign Het
Csf3 T A 11: 98,593,749 (GRCm39) L197Q probably damaging Het
Ctsw T A 19: 5,516,285 (GRCm39) D196V probably damaging Het
Dcun1d3 A T 7: 119,457,250 (GRCm39) I154K probably damaging Het
Ddr1 T C 17: 35,993,377 (GRCm39) T877A probably benign Het
Dnah8 T A 17: 30,950,012 (GRCm39) L1944I probably benign Het
Dpf3 G T 12: 83,417,385 (GRCm39) S29* probably null Het
Ephb1 A G 9: 101,848,378 (GRCm39) I640T probably damaging Het
Fat1 G A 8: 45,477,319 (GRCm39) G2099S probably damaging 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
Gart A T 16: 91,430,933 (GRCm39) D376E probably benign Het
Glyr1 G A 16: 4,836,740 (GRCm39) Q475* probably null Het
Gm28051 G A 12: 102,686,430 (GRCm39) Q77* probably null Het
Gnmt C A 17: 47,037,256 (GRCm39) R176L probably damaging Het
Gpr176 A T 2: 118,110,629 (GRCm39) V210D possibly damaging Het
Gtf2ird1 A T 5: 134,431,038 (GRCm39) D339E probably damaging Het
Hmbox1 A G 14: 65,063,061 (GRCm39) Y372H probably damaging Het
Ier2 G T 8: 85,389,361 (GRCm39) A7E probably 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
Insl6 G A 19: 29,298,996 (GRCm39) Q139* probably null Het
Itga2b A T 11: 102,349,017 (GRCm39) I729K probably damaging Het
Itpr2 A T 6: 146,135,489 (GRCm39) M1814K possibly damaging Het
Klhl3 G A 13: 58,166,703 (GRCm39) S429F probably damaging Het
Lipo2 T C 19: 33,725,865 (GRCm39) N129S probably benign Het
Lrba C T 3: 86,132,678 (GRCm39) T28M probably benign Het
Ly86 G T 13: 37,559,013 (GRCm39) G71C probably damaging Het
Maob T C X: 16,582,662 (GRCm39) T400A probably benign Het
Mical2 A G 7: 111,919,818 (GRCm39) S443G probably damaging Het
Mmp17 A G 5: 129,679,229 (GRCm39) H376R possibly damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Myo7b T C 18: 32,116,640 (GRCm39) H989R probably damaging Het
Neil2 A G 14: 63,425,909 (GRCm39) W154R probably 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
Or5b24 T C 19: 12,912,180 (GRCm39) V26A probably benign Het
Or5d37 A G 2: 87,923,353 (GRCm39) V309A probably damaging Het
Or8g18 A G 9: 39,149,717 (GRCm39) M1T probably null Het
Or8h9 A T 2: 86,789,698 (GRCm39) Y35N probably damaging Het
Pabpc6 T A 17: 9,888,540 (GRCm39) S4C probably damaging Het
Pan2 C T 10: 128,151,464 (GRCm39) R835* probably null Het
Parp9 G A 16: 35,784,683 (GRCm39) V346I probably damaging Het
Pcbp4 C T 9: 106,337,917 (GRCm39) T69M probably damaging Het
Pclo T A 5: 14,727,896 (GRCm39) probably benign Het
Phldb3 A T 7: 24,324,110 (GRCm39) I495F possibly damaging Het
Plce1 G T 19: 38,640,277 (GRCm39) V508F probably benign 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
Ptprc A G 1: 138,022,037 (GRCm39) S544P probably damaging Het
Rev3l T A 10: 39,699,326 (GRCm39) D1274E probably benign Het
Ryr3 A T 2: 112,733,010 (GRCm39) V612E probably damaging 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
Setd2 A G 9: 110,377,226 (GRCm39) D347G probably benign Het
Sgip1 G A 4: 102,726,966 (GRCm39) D81N probably damaging Het
Slc12a1 A T 2: 125,060,144 (GRCm39) I940F possibly damaging Het
Slc25a34 T A 4: 141,348,769 (GRCm39) I232L probably benign Het
Slc36a3 T A 11: 55,039,399 (GRCm39) K76N probably damaging Het
Slc6a15 T A 10: 103,225,087 (GRCm39) D58E probably benign Het
Slc6a7 T C 18: 61,140,448 (GRCm39) S195G probably null Het
Svep1 G A 4: 58,068,610 (GRCm39) Q3059* probably null Het
Syce1l A C 8: 114,378,274 (GRCm39) H56P probably damaging Het
Tbc1d2 A G 4: 46,606,503 (GRCm39) V814A probably damaging Het
Tbx18 T A 9: 87,597,740 (GRCm39) I265F probably damaging Het
Thbs2 T C 17: 14,890,852 (GRCm39) probably null Het
Ttll1 T C 15: 83,380,597 (GRCm39) H256R probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly 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
Unc5a T C 13: 55,151,231 (GRCm39) probably null 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
Vmn2r1 A C 3: 63,997,544 (GRCm39) Q400P possibly damaging Het
Vmn2r80 T A 10: 79,030,292 (GRCm39) V706D possibly damaging Het
Vmn2r87 A T 10: 130,314,422 (GRCm39) L388Q probably damaging Het
Vwa3a A T 7: 120,383,208 (GRCm39) Y603F probably damaging Het
Zfp850 A T 7: 27,689,658 (GRCm39) C183* 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
R4970:Cdh19 UTSW 1 110,882,354 (GRCm39) missense possibly damaging 0.68
R5095:Cdh19 UTSW 1 110,882,391 (GRCm39) missense probably benign
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'- ACTCTGTGACTGCTTTGGTC -3'
(R):5'- TGTTCCTTTCTAGAATAAGAGCTGG -3'

Sequencing Primer
(F):5'- GACTGCTTTGGTCCATTGTAAC -3'
(R):5'- CCTTTCTAGAATAAGAGCTGGAATCC -3'
Posted On 2016-06-15