Incidental Mutation 'R3612:Cdh19'
ID 269247
Institutional Source Beutler Lab
Gene Symbol Cdh19
Ensembl Gene ENSMUSG00000047216
Gene Name cadherin 19, type 2
Synonyms
MMRRC Submission 040672-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3612 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 110816056-110905314 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110821026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 571 (C571S)
Ref Sequence ENSEMBL: ENSMUSP00000092210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094626]
AlphaFold E9Q3A7
Predicted Effect probably damaging
Transcript: ENSMUST00000094626
AA Change: C571S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092210
Gene: ENSMUSG00000047216
AA Change: C571S

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
Meta Mutation Damage Score 0.7883 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (31/31)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,580,251 (GRCm39) V192A probably damaging Het
Acsm2 G C 7: 119,190,553 (GRCm39) V90L probably damaging Het
Adam5 T C 8: 25,308,105 (GRCm39) probably benign Het
Ankrd12 A T 17: 66,290,542 (GRCm39) D1630E probably benign Het
Ccdc88c A T 12: 100,905,332 (GRCm39) I1085N probably damaging Het
Cdc42bpb A G 12: 111,270,256 (GRCm39) probably benign Het
Cep290 T A 10: 100,377,443 (GRCm39) L1491* probably null Het
Cherp G A 8: 73,215,840 (GRCm39) probably benign Het
Diaph3 T C 14: 87,274,893 (GRCm39) S188G probably null Het
Ech1 C T 7: 28,529,668 (GRCm39) R34C probably damaging Het
Erc2 T C 14: 27,499,134 (GRCm39) S337P possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fah A G 7: 84,234,498 (GRCm39) V412A probably damaging Het
Gatc T A 5: 115,473,545 (GRCm39) E131D probably benign Het
Glrb A G 3: 80,769,337 (GRCm39) V130A possibly damaging Het
Gm4782 T A 6: 50,585,610 (GRCm39) probably null Het
Klhl1 C T 14: 96,619,206 (GRCm39) probably null Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myo15a G C 11: 60,368,505 (GRCm39) D422H probably damaging Het
Ncapd3 T A 9: 26,961,653 (GRCm39) H360Q probably damaging Het
Or1e22 T C 11: 73,376,766 (GRCm39) R295G probably benign Het
Ppargc1b T C 18: 61,443,627 (GRCm39) N528S probably benign Het
Rprd2 G A 3: 95,671,464 (GRCm39) P1313L probably damaging Het
Slc12a7 C A 13: 73,958,042 (GRCm39) D955E probably benign Het
Slc9a2 G A 1: 40,758,218 (GRCm39) probably null Het
Tex24 T A 8: 27,835,201 (GRCm39) V243D probably benign Het
Vmn2r17 A G 5: 109,577,463 (GRCm39) T505A probably benign Het
Vps37a T C 8: 40,997,977 (GRCm39) probably benign Het
Zmynd19 A G 2: 24,841,492 (GRCm39) Y20C probably damaging 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
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
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'- ACCTCTTCTACATATTCATGGTGAT -3'
(R):5'- CTGATGCCTAAGTAGAGACACATT -3'

Sequencing Primer
(F):5'- CATGGTGATTTTTGCAAGTAAAGG -3'
(R):5'- ATAAGACTTGGTTTTTGCTTGCACAG -3'
Posted On 2015-02-19