Incidental Mutation 'P0038:Cdh13'
ID 7730
Institutional Source Beutler Lab
Gene Symbol Cdh13
Ensembl Gene ENSMUSG00000031841
Gene Name cadherin 13
Synonyms T-cadherin, 4932416G01Rik, Tcad
MMRRC Submission 038287-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # P0038 (G1)
Quality Score
Status Validated
Chromosome 8
Chromosomal Location 119010472-120051660 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 119401843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 82 (V82M)
Ref Sequence ENSEMBL: ENSMUSP00000113527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117160]
AlphaFold Q9WTR5
PDB Structure Crystal Structure of mouse T-cadherin EC1 EC2 [X-RAY DIFFRACTION]
Crystal structure of mouse T-cadherin EC1 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000117160
AA Change: V82M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113527
Gene: ENSMUSG00000031841
AA Change: V82M

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Cadherin_pro 26 112 1.04e-17 SMART
CA 160 243 1.49e-18 SMART
CA 267 361 1.84e-23 SMART
CA 383 476 8.75e-16 SMART
CA 499 583 2.36e-21 SMART
CA 604 687 5.93e-2 SMART
low complexity region 695 714 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123567
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142551
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145849
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148836
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 79.6%
  • 3x: 69.7%
  • 10x: 40.2%
  • 20x: 18.1%
Validation Efficiency 86% (80/93)
MGI Phenotype FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. This gene is highly expressed in the vasculature including endothelial cells, smooth muscle cells and pericytes, where the encoded protein binds to adiponectin and has been implicated in the modulation of angiogenesis. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 8. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased retinal neovascularization and increased adiponectin levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad2b C A 12: 5,004,536 (GRCm39) probably benign Het
Atmin T A 8: 117,683,775 (GRCm39) C478* probably null Het
Dip2c A C 13: 9,697,018 (GRCm39) T1310P probably damaging Het
Eral1 A T 11: 77,966,847 (GRCm39) D189E probably damaging Het
Fstl5 A G 3: 76,052,369 (GRCm39) Y33C probably damaging Het
Gjb4 A T 4: 127,245,293 (GRCm39) V216D probably benign Het
Lars2 T C 9: 123,206,842 (GRCm39) V103A probably damaging Het
Mfsd12 C T 10: 81,198,052 (GRCm39) T311I probably benign Het
Mtrex A C 13: 113,047,513 (GRCm39) Y277* probably null Het
Paf1 T C 7: 28,096,350 (GRCm39) probably null Het
Rfc1 T C 5: 65,445,304 (GRCm39) T435A probably damaging Het
Siglec1 T C 2: 130,923,359 (GRCm39) N462S probably benign Het
Tnks1bp1 C T 2: 84,892,755 (GRCm39) T232I probably benign Het
Trpc6 A T 9: 8,649,512 (GRCm39) N574I possibly damaging Het
Ttll7 T C 3: 146,650,939 (GRCm39) F700L possibly damaging Het
Zc3hav1 G A 6: 38,309,469 (GRCm39) T451M probably damaging Het
Other mutations in Cdh13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Cdh13 APN 8 120,039,245 (GRCm39) missense possibly damaging 0.87
IGL00659:Cdh13 APN 8 120,039,406 (GRCm39) missense probably damaging 1.00
IGL01662:Cdh13 APN 8 119,401,916 (GRCm39) missense probably damaging 0.99
IGL01719:Cdh13 APN 8 119,401,927 (GRCm39) missense probably benign 0.01
IGL02148:Cdh13 APN 8 119,925,697 (GRCm39) missense probably damaging 1.00
IGL02157:Cdh13 APN 8 119,232,410 (GRCm39) missense possibly damaging 0.68
IGL02188:Cdh13 APN 8 119,578,500 (GRCm39) missense probably benign 0.08
IGL02490:Cdh13 APN 8 119,822,062 (GRCm39) missense probably damaging 1.00
IGL02851:Cdh13 APN 8 119,401,897 (GRCm39) missense probably benign 0.32
IGL02958:Cdh13 APN 8 120,039,460 (GRCm39) missense possibly damaging 0.90
IGL03085:Cdh13 APN 8 120,015,463 (GRCm39) missense probably damaging 1.00
IGL03230:Cdh13 APN 8 119,969,056 (GRCm39) missense probably damaging 1.00
IGL03280:Cdh13 APN 8 120,040,873 (GRCm39) missense probably damaging 1.00
K3955:Cdh13 UTSW 8 119,401,843 (GRCm39) missense probably damaging 0.99
R0398:Cdh13 UTSW 8 120,040,786 (GRCm39) missense probably damaging 1.00
R2156:Cdh13 UTSW 8 119,963,703 (GRCm39) missense probably damaging 1.00
R3415:Cdh13 UTSW 8 119,401,946 (GRCm39) missense probably benign 0.35
R4243:Cdh13 UTSW 8 119,968,996 (GRCm39) missense probably damaging 1.00
R4839:Cdh13 UTSW 8 119,578,587 (GRCm39) nonsense probably null
R4851:Cdh13 UTSW 8 119,484,129 (GRCm39) missense possibly damaging 0.75
R5129:Cdh13 UTSW 8 119,821,954 (GRCm39) missense probably damaging 1.00
R5453:Cdh13 UTSW 8 119,925,706 (GRCm39) missense probably damaging 1.00
R5607:Cdh13 UTSW 8 119,484,213 (GRCm39) missense probably benign
R5608:Cdh13 UTSW 8 119,484,213 (GRCm39) missense probably benign
R5610:Cdh13 UTSW 8 119,578,462 (GRCm39) missense possibly damaging 0.95
R6035:Cdh13 UTSW 8 119,232,437 (GRCm39) missense probably benign 0.03
R6035:Cdh13 UTSW 8 119,232,437 (GRCm39) missense probably benign 0.03
R6556:Cdh13 UTSW 8 119,694,926 (GRCm39) missense probably damaging 0.99
R7124:Cdh13 UTSW 8 119,694,912 (GRCm39) missense probably damaging 1.00
R7349:Cdh13 UTSW 8 119,969,097 (GRCm39) missense probably damaging 0.97
R7418:Cdh13 UTSW 8 120,039,264 (GRCm39) missense probably damaging 1.00
R7679:Cdh13 UTSW 8 119,963,658 (GRCm39) missense probably benign 0.29
R7807:Cdh13 UTSW 8 119,010,594 (GRCm39) start codon destroyed probably null 0.77
R8777:Cdh13 UTSW 8 119,963,706 (GRCm39) critical splice donor site probably null
R8777-TAIL:Cdh13 UTSW 8 119,963,706 (GRCm39) critical splice donor site probably null
R9175:Cdh13 UTSW 8 119,968,968 (GRCm39) missense probably damaging 1.00
R9481:Cdh13 UTSW 8 119,963,676 (GRCm39) missense
X0025:Cdh13 UTSW 8 119,232,418 (GRCm39) missense probably benign 0.28
Posted On 2012-10-29