Incidental Mutation 'R2124:Cdh3'
ID 229671
Institutional Source Beutler Lab
Gene Symbol Cdh3
Ensembl Gene ENSMUSG00000061048
Gene Name cadherin 3
Synonyms P-cadherin, Cadp, Pcad
MMRRC Submission 040127-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R2124 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 107237484-107283543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107279520 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 712 (H712L)
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: H712L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000079613
Gene: ENSMUSG00000061048
AA Change: H712L

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
Meta Mutation Damage Score 0.8927 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (80/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T A 4: 62,457,109 (GRCm39) L143M possibly damaging Het
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Adgrg6 T C 10: 14,342,930 (GRCm39) D339G probably damaging Het
Ahctf1 C A 1: 179,597,017 (GRCm39) R43L probably damaging Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Arap3 A C 18: 38,106,403 (GRCm39) L1480R probably damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Aspg G A 12: 112,087,608 (GRCm39) V8I probably benign Het
Aven T A 2: 112,455,541 (GRCm39) W26R probably damaging Het
Car4 T A 11: 84,854,911 (GRCm39) probably benign Het
Cd163 C T 6: 124,295,815 (GRCm39) R720C probably damaging Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Cdr2 T C 7: 120,581,250 (GRCm39) E9G probably damaging Het
Cfap47 T C X: 78,553,927 (GRCm39) I267V probably benign Het
Chrnb2 T C 3: 89,676,648 (GRCm39) probably benign Het
Col4a2 C A 8: 11,466,070 (GRCm39) P443Q probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Ddias T C 7: 92,507,464 (GRCm39) Q817R probably benign Het
Ddx6 C T 9: 44,535,816 (GRCm39) Q182* probably null Het
Dhrs7 A G 12: 72,699,951 (GRCm39) I227T probably damaging Het
Dhx8 A T 11: 101,653,071 (GRCm39) M970L probably damaging Het
Dnah7a A T 1: 53,536,101 (GRCm39) D2647E possibly damaging Het
Dstyk G A 1: 132,380,857 (GRCm39) G451R possibly damaging Het
Ednrb T A 14: 104,059,204 (GRCm39) D274V probably benign Het
Efl1 C T 7: 82,342,121 (GRCm39) R510C probably damaging Het
Eif4g3 A G 4: 137,912,053 (GRCm39) E1409G probably damaging Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fcgbp T C 7: 27,791,444 (GRCm39) Y902H probably benign Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Gbp9 T A 5: 105,242,409 (GRCm39) D110V probably damaging Het
Gm10477 A G X: 55,570,192 (GRCm39) K31E probably damaging Het
Gm10542 T A 18: 44,334,355 (GRCm39) W9R probably null Het
Gpaa1 A G 15: 76,217,552 (GRCm39) Y330C probably damaging Het
Hectd4 T C 5: 121,456,702 (GRCm39) L689P probably damaging Het
Hoxd3 C A 2: 74,574,578 (GRCm39) P75T possibly damaging Het
Ikbkb A G 8: 23,156,036 (GRCm39) L570P probably damaging Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Il1rap A T 16: 26,529,315 (GRCm39) H379L probably damaging Het
Ints6l T A X: 55,550,228 (GRCm39) S718T probably benign Het
Jaml T A 9: 45,012,362 (GRCm39) I283N probably damaging Het
Kidins220 G A 12: 25,091,302 (GRCm39) probably null Het
Kif1b T C 4: 149,306,753 (GRCm39) D869G probably benign Het
Loxl2 T C 14: 69,929,859 (GRCm39) Y746H probably benign Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Mageb5 A G X: 90,823,701 (GRCm39) I226T probably damaging Het
Msantd2 C T 9: 37,434,227 (GRCm39) R357W probably damaging Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Or7e173 T G 9: 19,938,797 (GRCm39) I146L probably benign Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Prkdc T C 16: 15,537,297 (GRCm39) V1716A probably benign Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Rims1 T A 1: 22,474,732 (GRCm39) R200* probably null Het
Rnf168 T G 16: 32,097,036 (GRCm39) L37R probably damaging Het
Sall3 C T 18: 81,015,012 (GRCm39) G972D probably benign Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Scamp5 C A 9: 57,354,508 (GRCm39) V49F possibly damaging Het
Sdk1 C A 5: 142,170,943 (GRCm39) D1935E possibly damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Syt16 T A 12: 74,285,009 (GRCm39) S401T probably damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tbcd A G 11: 121,494,146 (GRCm39) Y983C probably damaging Het
Tenm3 A G 8: 48,870,041 (GRCm39) probably null Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmem44 T A 16: 30,366,262 (GRCm39) K55* probably null Het
Top2a T C 11: 98,895,054 (GRCm39) I849V probably benign Het
Ttn A G 2: 76,624,792 (GRCm39) V13516A probably damaging Het
Uxs1 A G 1: 43,814,006 (GRCm39) L77P probably damaging Het
Vmn2r121 A T X: 123,043,439 (GRCm39) probably null Het
Vmn2r84 A C 10: 130,227,100 (GRCm39) M246R probably damaging Het
Vps13b T A 15: 35,646,226 (GRCm39) N1443K probably benign Het
Wfdc6b C T 2: 164,459,363 (GRCm39) R142C probably benign Het
Zfp616 A G 11: 73,973,869 (GRCm39) probably null Het
Zmym1 T C 4: 126,943,363 (GRCm39) T244A probably benign Het
Other mutations in Cdh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Cdh3 APN 8 107,281,937 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TGTTATGTTGACCAGCCCTG -3'
(R):5'- TTGTGCCTGACCCATGCTTG -3'

Sequencing Primer
(F):5'- CAGCTAAGTGGCTCTCAAGTCTG -3'
(R):5'- GACCCATGCTTGTGTTTGGTAAACC -3'
Posted On 2014-09-17