Incidental Mutation 'IGL02272:Cdh3'
ID 287224
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: 0.107) question?
Stock # IGL02272
Quality Score
Status
Chromosome 8
Chromosomal Location 107237484-107283543 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to T at 107274468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000080797
SMART Domains Protein: ENSMUSP00000079613
Gene: ENSMUSG00000061048

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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,757,021 (GRCm39) C759* probably null Het
Adgrg6 T A 10: 14,344,573 (GRCm39) M127L probably damaging Het
Anxa9 A G 3: 95,213,205 (GRCm39) V47A probably benign Het
Arhgef12 T A 9: 42,912,748 (GRCm39) D483V probably damaging Het
Arrdc3 C A 13: 81,039,769 (GRCm39) probably benign Het
Ccdc169 A G 3: 55,058,169 (GRCm39) E67G probably damaging Het
Ccdc191 T A 16: 43,780,385 (GRCm39) V731D possibly damaging Het
Cntnap1 G A 11: 101,069,142 (GRCm39) V199M probably damaging Het
Cntnap3 A T 13: 64,905,225 (GRCm39) V852E probably damaging Het
Csmd1 A T 8: 16,249,907 (GRCm39) S1024T probably damaging Het
Cyp3a25 T C 5: 145,930,075 (GRCm39) probably benign Het
Dusp6 T A 10: 99,101,881 (GRCm39) V289D probably damaging Het
Ecpas A T 4: 58,811,731 (GRCm39) N1439K probably benign Het
Epha6 C T 16: 59,639,300 (GRCm39) R858Q probably damaging Het
Flrt2 T A 12: 95,746,478 (GRCm39) F272Y probably damaging Het
Gbf1 T A 19: 46,258,242 (GRCm39) W846R probably damaging Het
Gtpbp2 T A 17: 46,475,707 (GRCm39) V152E probably benign Het
Hmces A G 6: 87,894,837 (GRCm39) probably null Het
Hsph1 A G 5: 149,540,995 (GRCm39) S852P probably benign Het
Kat6b A C 14: 21,676,846 (GRCm39) K394Q probably damaging Het
Kdr G A 5: 76,122,500 (GRCm39) T475I probably benign Het
Klhl25 A G 7: 75,516,368 (GRCm39) T425A probably benign Het
Klk1b8 T A 7: 43,602,217 (GRCm39) C50S probably damaging Het
Kri1 T C 9: 21,187,464 (GRCm39) Y343C probably damaging Het
Lamb1 T C 12: 31,355,768 (GRCm39) S953P probably benign Het
Lpin1 A G 12: 16,597,601 (GRCm39) V681A probably damaging Het
Lpin3 A G 2: 160,743,581 (GRCm39) T508A probably benign Het
Moxd1 T A 10: 24,158,598 (GRCm39) Y417* probably null Het
Mthfd1l T G 10: 3,991,812 (GRCm39) I588S probably damaging Het
Myo5c C A 9: 75,173,442 (GRCm39) N543K possibly damaging Het
Myo9a T A 9: 59,791,883 (GRCm39) probably benign Het
Nme8 T C 13: 19,842,996 (GRCm39) Y393C probably damaging Het
Nr2e1 T G 10: 42,443,975 (GRCm39) N249T probably damaging Het
Pex11g A G 8: 3,515,898 (GRCm39) V45A probably benign Het
Pkhd1 C A 1: 20,279,484 (GRCm39) G2945W probably damaging Het
Plxnd1 A G 6: 115,970,589 (GRCm39) F393S probably damaging Het
Ppp3cc A G 14: 70,473,938 (GRCm39) V353A probably damaging Het
Prss16 T A 13: 22,187,205 (GRCm39) Q455L probably damaging Het
Ptpn6 A T 6: 124,698,171 (GRCm39) V524E probably damaging Het
Rap1gap A G 4: 137,443,877 (GRCm39) Y163C probably damaging Het
Rnf31 C T 14: 55,836,239 (GRCm39) L598F probably damaging Het
Sardh T G 2: 27,115,003 (GRCm39) D550A probably benign Het
Serpinc1 T G 1: 160,827,562 (GRCm39) I387S probably damaging Het
Sh3d19 A T 3: 86,028,474 (GRCm39) D650V probably benign Het
Sipa1l2 T A 8: 126,218,750 (GRCm39) T196S probably damaging Het
Slc25a46 T C 18: 31,716,621 (GRCm39) T294A probably benign Het
Srrm2 T C 17: 24,034,756 (GRCm39) probably benign Het
Steap2 T A 5: 5,727,612 (GRCm39) N241I probably benign Het
Tcaf3 T C 6: 42,573,594 (GRCm39) Y206C probably damaging Het
Tmem259 T A 10: 79,814,297 (GRCm39) Q322L probably damaging Het
Tnni2 C A 7: 141,997,166 (GRCm39) Q52K possibly damaging Het
Ttn A G 2: 76,565,372 (GRCm39) V28285A possibly damaging Het
Uba7 T A 9: 107,853,352 (GRCm39) S99R probably benign Het
Ubxn2b A T 4: 6,216,071 (GRCm39) K331N probably damaging Het
Usp50 G A 2: 126,611,864 (GRCm39) T232I probably damaging Het
Vmn2r116 G A 17: 23,604,973 (GRCm39) M95I probably benign Het
Vmn2r116 T A 17: 23,604,978 (GRCm39) L97Q probably damaging Het
Vmn2r24 A T 6: 123,763,843 (GRCm39) N240I possibly damaging Het
Vmn2r72 T C 7: 85,399,901 (GRCm39) R383G 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
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 2015-04-16