Incidental Mutation 'IGL01103:Cdh3'
ID 51765
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh3
Ensembl Gene ENSMUSG00000061048
Gene Name cadherin 3
Synonyms P-cadherin, Cadp, Pcad
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # IGL01103
Quality Score
Status
Chromosome 8
Chromosomal Location 107237484-107283543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107281937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 775 (Y775C)
Ref Sequence ENSEMBL: ENSMUSP00000079613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080797]
AlphaFold P10287
PDB Structure Crystal structure of mouse P-cadherin extracellular domains EC1-EC2 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000080797
AA Change: Y775C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079613
Gene: ENSMUSG00000061048
AA Change: Y775C

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
CA 122 205 7.57e-11 SMART
CA 229 318 1.68e-26 SMART
CA 341 431 4.21e-18 SMART
CA 454 538 1.28e-22 SMART
Pfam:Cadherin_C 673 818 3.9e-46 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a calcium-dependent cell-cell adhesion protein containing five cadherin domains. The encoded protein plays a role in epithelial outgrowth, such as that which occurs during the development of hair follicles and limb buds. Loss of function of the related gene in humans results in ectodermal dysplasia, ectrodactyly, and macular dystrophy and congential hypotrichosis with juvenile macular dystrophy. This gene is located in the vicinity of similar cadherin genes on chromosome 8. The proprotein is further cleaved into a functional chain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous mutation of this gene results in precocious development of mammary glands in virgin 10-week old females. Aged virgin females (24 weeks) exhibit alveolar hyperplasia, ductal dysplasia, and extensive lymphocyte infiltration of the mammary glands. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Calhm6 A T 10: 34,002,361 (GRCm39) C241S probably benign Het
Clip2 A G 5: 134,521,204 (GRCm39) S980P possibly damaging Het
Ddx51 C T 5: 110,803,729 (GRCm39) A375V probably benign Het
Eif4e A G 3: 138,253,412 (GRCm39) probably benign Het
Epb41l5 T C 1: 119,495,577 (GRCm39) D588G probably benign Het
Fer1l4 C T 2: 155,886,361 (GRCm39) probably null Het
Fli1 T C 9: 32,335,236 (GRCm39) N399D probably benign Het
Gm20422 T C 8: 70,195,776 (GRCm39) T168A possibly damaging Het
Kcnk12 C T 17: 88,054,195 (GRCm39) G156R probably damaging Het
Kntc1 T A 5: 123,902,283 (GRCm39) S309T probably damaging Het
Lcp1 T A 14: 75,464,533 (GRCm39) probably null Het
Neo1 A G 9: 58,788,082 (GRCm39) C1324R possibly damaging Het
Nin G A 12: 70,103,532 (GRCm39) T236I probably damaging Het
Npy6r A G 18: 44,408,585 (GRCm39) E2G probably benign Het
Numa1 T C 7: 101,650,778 (GRCm39) V136A probably benign Het
Pcdhb8 A G 18: 37,490,253 (GRCm39) K644E probably damaging Het
Polr3h T A 15: 81,806,697 (GRCm39) N41Y probably damaging Het
Prrx1 T C 1: 163,089,531 (GRCm39) T99A probably damaging Het
Prss1l T A 6: 41,374,091 (GRCm39) V231D probably damaging Het
Rbm18 G A 2: 36,024,184 (GRCm39) R26* probably null Het
Repin1 G T 6: 48,574,887 (GRCm39) probably benign Het
Rnase1 T C 14: 51,383,079 (GRCm39) N92D probably benign Het
Sidt1 A T 16: 44,063,906 (GRCm39) C782* probably null Het
Slc27a6 T A 18: 58,689,836 (GRCm39) S101T probably benign Het
Stard9 A G 2: 120,532,328 (GRCm39) N2862D possibly damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tril A G 6: 53,796,023 (GRCm39) Y400H probably damaging Het
Trim34b T C 7: 103,979,106 (GRCm39) C118R probably damaging Het
Vwa7 T C 17: 35,243,918 (GRCm39) V784A probably damaging Het
Other mutations in Cdh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Cdh3 APN 8 107,274,301 (GRCm39) missense probably damaging 1.00
IGL01466:Cdh3 APN 8 107,263,227 (GRCm39) missense possibly damaging 0.62
IGL01794:Cdh3 APN 8 107,263,758 (GRCm39) missense possibly damaging 0.78
IGL02100:Cdh3 APN 8 107,270,322 (GRCm39) missense probably benign
IGL02272:Cdh3 APN 8 107,274,468 (GRCm39) splice site probably null
IGL02292:Cdh3 APN 8 107,271,833 (GRCm39) missense probably damaging 0.99
IGL02553:Cdh3 APN 8 107,270,880 (GRCm39) nonsense probably null
IGL03245:Cdh3 APN 8 107,279,631 (GRCm39) missense probably damaging 1.00
IGL03376:Cdh3 APN 8 107,268,036 (GRCm39) missense probably benign 0.01
Arctus UTSW 8 107,266,488 (GRCm39) missense probably damaging 1.00
Bebe UTSW 8 107,271,860 (GRCm39) critical splice donor site probably null
Byte UTSW 8 107,237,973 (GRCm39) missense probably benign
puffin UTSW 8 107,270,458 (GRCm39) missense probably damaging 0.98
R7512_Cdh3_158 UTSW 8 107,265,640 (GRCm39) nonsense probably null
PIT4486001:Cdh3 UTSW 8 107,268,122 (GRCm39) missense possibly damaging 0.89
R0143:Cdh3 UTSW 8 107,237,857 (GRCm39) missense probably benign 0.35
R0388:Cdh3 UTSW 8 107,265,761 (GRCm39) missense probably damaging 1.00
R0462:Cdh3 UTSW 8 107,282,012 (GRCm39) missense possibly damaging 0.65
R0526:Cdh3 UTSW 8 107,282,078 (GRCm39) missense possibly damaging 0.69
R0788:Cdh3 UTSW 8 107,268,047 (GRCm39) missense probably benign 0.05
R1495:Cdh3 UTSW 8 107,265,629 (GRCm39) missense probably damaging 1.00
R1653:Cdh3 UTSW 8 107,265,700 (GRCm39) missense probably damaging 1.00
R1806:Cdh3 UTSW 8 107,263,547 (GRCm39) missense probably benign 0.02
R2124:Cdh3 UTSW 8 107,279,520 (GRCm39) missense probably damaging 1.00
R2302:Cdh3 UTSW 8 107,271,701 (GRCm39) missense probably damaging 1.00
R2326:Cdh3 UTSW 8 107,237,940 (GRCm39) missense probably benign
R2508:Cdh3 UTSW 8 107,279,039 (GRCm39) missense probably damaging 1.00
R3625:Cdh3 UTSW 8 107,270,310 (GRCm39) missense probably damaging 0.98
R3767:Cdh3 UTSW 8 107,263,606 (GRCm39) splice site probably null
R4679:Cdh3 UTSW 8 107,266,488 (GRCm39) missense probably damaging 1.00
R4716:Cdh3 UTSW 8 107,270,520 (GRCm39) missense probably benign
R4778:Cdh3 UTSW 8 107,270,458 (GRCm39) missense probably damaging 0.98
R4928:Cdh3 UTSW 8 107,263,242 (GRCm39) missense probably benign 0.15
R5069:Cdh3 UTSW 8 107,263,458 (GRCm39) missense probably benign 0.19
R5101:Cdh3 UTSW 8 107,268,024 (GRCm39) missense possibly damaging 0.60
R5204:Cdh3 UTSW 8 107,270,871 (GRCm39) missense probably benign 0.29
R5309:Cdh3 UTSW 8 107,265,652 (GRCm39) missense probably damaging 0.98
R5343:Cdh3 UTSW 8 107,279,568 (GRCm39) missense probably benign
R5408:Cdh3 UTSW 8 107,263,269 (GRCm39) missense probably damaging 0.98
R6253:Cdh3 UTSW 8 107,263,695 (GRCm39) splice site probably null
R6637:Cdh3 UTSW 8 107,237,973 (GRCm39) missense probably benign
R6639:Cdh3 UTSW 8 107,237,973 (GRCm39) missense probably benign
R7142:Cdh3 UTSW 8 107,271,860 (GRCm39) critical splice donor site probably null
R7371:Cdh3 UTSW 8 107,279,109 (GRCm39) missense probably damaging 1.00
R7397:Cdh3 UTSW 8 107,263,241 (GRCm39) nonsense probably null
R7458:Cdh3 UTSW 8 107,263,779 (GRCm39) missense probably damaging 1.00
R7512:Cdh3 UTSW 8 107,265,640 (GRCm39) nonsense probably null
R7522:Cdh3 UTSW 8 107,268,005 (GRCm39) missense probably damaging 1.00
R7586:Cdh3 UTSW 8 107,237,975 (GRCm39) critical splice donor site probably null
R9467:Cdh3 UTSW 8 107,266,425 (GRCm39) critical splice acceptor site probably null
R9680:Cdh3 UTSW 8 107,274,396 (GRCm39) missense probably benign
Posted On 2013-06-21