Incidental Mutation 'R7458:Cdh3'
ID 578253
Institutional Source Beutler Lab
Gene Symbol Cdh3
Ensembl Gene ENSMUSG00000061048
Gene Name cadherin 3
Synonyms P-cadherin, Cadp, Pcad
MMRRC Submission 045532-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R7458 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 107237484-107283543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107263779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 199 (D199G)
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: D199G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079613
Gene: ENSMUSG00000061048
AA Change: D199G

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (48/48)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik C T 5: 113,338,510 (GRCm39) V501M probably benign Het
Abca13 T C 11: 9,240,777 (GRCm39) F880S possibly damaging Het
AI182371 T A 2: 34,976,516 (GRCm39) R206S possibly damaging Het
Akr1a1 A T 4: 116,495,014 (GRCm39) M286K possibly damaging Het
Aldh8a1 A G 10: 21,271,492 (GRCm39) E406G possibly damaging Het
Ambra1 T A 2: 91,748,029 (GRCm39) V1255D probably benign Het
Apol7e C T 15: 77,598,604 (GRCm39) T23I probably benign Het
Armh4 T C 14: 49,920,196 (GRCm39) Y711C probably damaging Het
Boc T C 16: 44,307,119 (GRCm39) E1034G Het
Bricd5 T C 17: 24,693,476 (GRCm39) I39T probably damaging Het
Ccne1 T C 7: 37,800,096 (GRCm39) T163A probably damaging Het
Cct7 T C 6: 85,436,978 (GRCm39) V72A probably benign Het
Clip1 T G 5: 123,778,609 (GRCm39) E438A probably damaging Het
Col4a4 T C 1: 82,476,669 (GRCm39) I553M unknown Het
Csmd1 A T 8: 16,003,738 (GRCm39) N2605K probably damaging Het
Dnajc10 T A 2: 80,155,094 (GRCm39) probably null Het
Fbn1 T A 2: 125,161,036 (GRCm39) D2168V probably benign Het
G2e3 T A 12: 51,412,290 (GRCm39) N443K possibly damaging Het
Gak T C 5: 108,730,940 (GRCm39) D822G probably benign Het
Gm9493 A G 19: 23,597,277 (GRCm39) I58V probably benign Het
Gpr65 T G 12: 98,242,324 (GRCm39) S326A probably damaging Het
Irs2 T C 8: 11,057,739 (GRCm39) E231G probably damaging Het
Itga1 T C 13: 115,122,802 (GRCm39) D718G probably benign Het
Itih1 T C 14: 30,665,223 (GRCm39) M1V probably null Het
Lgr5 A G 10: 115,293,660 (GRCm39) probably null Het
Lipn A G 19: 34,049,242 (GRCm39) N136S probably benign Het
Lrrc37a G A 11: 103,388,258 (GRCm39) T2389I unknown Het
Myo7b G A 18: 32,121,604 (GRCm39) A767V possibly damaging Het
Necab1 A T 4: 15,111,244 (GRCm39) S61R possibly damaging Het
Or5m8 A G 2: 85,822,994 (GRCm39) T278A probably damaging Het
Phyhip G A 14: 70,699,260 (GRCm39) R21H probably damaging Het
Pls1 G A 9: 95,667,560 (GRCm39) T116I probably damaging Het
Pnn C A 12: 59,119,200 (GRCm39) S594R unknown Het
Psen1 T A 12: 83,761,540 (GRCm39) I114N probably damaging Het
Rhox8 GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT X: 36,966,991 (GRCm39) probably benign Het
Slc12a7 T A 13: 73,933,188 (GRCm39) V82E probably damaging Het
Slc25a44 A G 3: 88,323,368 (GRCm39) I246T probably benign Het
Slc2a13 T A 15: 91,296,390 (GRCm39) Y308F probably benign Het
Sntb2 C A 8: 107,662,930 (GRCm39) A166E possibly damaging Het
Tas2r135 T A 6: 42,382,881 (GRCm39) V140D possibly damaging Het
Tdrd6 T C 17: 43,935,937 (GRCm39) T1704A probably benign Het
Txndc12 A G 4: 108,718,606 (GRCm39) D159G probably benign Het
Ubash3a T C 17: 31,427,139 (GRCm39) L16P probably benign Het
Usp4 T C 9: 108,245,055 (GRCm39) L331P probably damaging Het
Vmn2r108 T C 17: 20,692,532 (GRCm39) D108G probably benign Het
Vmn2r58 C A 7: 41,487,123 (GRCm39) A591S probably benign Het
Wdpcp T C 11: 21,698,919 (GRCm39) I566T probably damaging Het
Zfp866 T A 8: 70,218,202 (GRCm39) K473* probably null 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
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
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'- ATATGCCACTGGACAGGGAG -3'
(R):5'- ATAGGATGAGCAGATCGGCCAC -3'

Sequencing Primer
(F):5'- CAAGTACGAGGTAAATAGCCTTTAGC -3'
(R):5'- CACACAGCCATGAAGGTCTGG -3'
Posted On 2019-10-07