Incidental Mutation 'R5204:Cdh3'
ID 398350
Institutional Source Beutler Lab
Gene Symbol Cdh3
Ensembl Gene ENSMUSG00000061048
Gene Name cadherin 3
Synonyms P-cadherin, Cadp, Pcad
MMRRC Submission 042779-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R5204 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 107237484-107283543 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107270871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 508 (V508A)
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 benign
Transcript: ENSMUST00000080797
AA Change: V508A

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000079613
Gene: ENSMUSG00000061048
AA Change: V508A

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aarsd1 A T 11: 101,297,752 (GRCm39) L532Q probably damaging Het
Abt1 G A 13: 23,606,838 (GRCm39) R88C probably damaging Het
Aopep G A 13: 63,180,904 (GRCm39) V289I probably benign Het
Arhgef7 T A 8: 11,850,775 (GRCm39) L129* probably null Het
Arid1b T C 17: 5,393,316 (GRCm39) V2282A probably damaging Het
Bivm G C 1: 44,177,738 (GRCm39) G346A probably damaging Het
Cav1 T C 6: 17,339,254 (GRCm39) L102P probably damaging Het
Ccdc57 A G 11: 120,776,888 (GRCm39) V504A possibly damaging Het
Cd7 A T 11: 120,928,860 (GRCm39) probably null Het
Chrd A T 16: 20,554,822 (GRCm39) I413F probably benign Het
Clec4b1 T A 6: 123,048,494 (GRCm39) *210R probably null Het
Clock A T 5: 76,391,017 (GRCm39) probably null Het
Col4a2 T A 8: 11,448,651 (GRCm39) probably null Het
Gpx7 T C 4: 108,260,512 (GRCm39) T95A probably benign Het
Hivep3 T A 4: 119,961,053 (GRCm39) probably null Het
Hrc A G 7: 44,985,128 (GRCm39) Y93C possibly damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Klhl5 G T 5: 65,288,781 (GRCm39) L14F possibly damaging Het
Mcm6 A G 1: 128,261,375 (GRCm39) L743P probably benign Het
Nrxn1 A T 17: 90,469,792 (GRCm39) F57Y probably damaging Het
Or51af1 C T 7: 103,141,747 (GRCm39) V113M probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdh20 G T 14: 88,706,351 (GRCm39) D316E probably damaging Het
Pcdhb12 T A 18: 37,569,142 (GRCm39) V96E probably damaging Het
Pi4ka A T 16: 17,176,909 (GRCm39) L346M possibly damaging Het
Pkhd1l1 A C 15: 44,410,437 (GRCm39) N2648T possibly damaging Het
Rufy1 C T 11: 50,297,261 (GRCm39) R397Q probably damaging Het
Sema5a G T 15: 32,686,793 (GRCm39) M968I probably benign Het
Slc33a1 A G 3: 63,871,167 (GRCm39) Y149H probably damaging Het
Tln2 T A 9: 67,261,764 (GRCm39) R658S probably benign Het
Tmem30c T C 16: 57,090,385 (GRCm39) N274S possibly damaging Het
Tor3a A G 1: 156,483,270 (GRCm39) L384P probably damaging Het
Trpm3 T A 19: 22,425,705 (GRCm39) L20* probably null Het
Ttn T A 2: 76,560,556 (GRCm39) I20955F probably damaging Het
Usp15 A T 10: 122,949,545 (GRCm39) S908R probably benign Het
Zfp866 A G 8: 70,218,690 (GRCm39) L310P probably damaging 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
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'- GTCTGAGGAGGCTCTAGATGATAAC -3'
(R):5'- TGAAAAGGGAGTCCTCAGCAC -3'

Sequencing Primer
(F):5'- CAGAATCCTACAGCTGCTACCTGTG -3'
(R):5'- AGTCCTCAGCACCCTGC -3'
Posted On 2016-07-06