Incidental Mutation 'IGL01662:Cdh13'
ID103199
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh13
Ensembl Gene ENSMUSG00000031841
Gene Namecadherin 13
SynonymsT-cadherin, 4932416G01Rik, Tcad
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01662
Quality Score
Status
Chromosome8
Chromosomal Location118283733-119324921 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 118675177 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 106 (M106K)
Ref Sequence ENSEMBL: ENSMUSP00000113527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117160]
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: M106K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113527
Gene: ENSMUSG00000031841
AA Change: M106K

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
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 A T 7: 119,538,288 I402F probably damaging Het
Acvr2b T C 9: 119,432,504 Y388H probably damaging Het
Adh1 G A 3: 138,282,751 D162N possibly damaging Het
C6 G T 15: 4,792,754 R585I probably damaging Het
Ccdc169 T A 3: 55,163,311 probably null Het
Cep78 C T 19: 15,960,995 E530K probably damaging Het
Cyfip1 T A 7: 55,896,739 L533Q probably damaging Het
Etl4 T C 2: 20,806,649 V1181A probably benign Het
Fam105a C T 15: 27,658,065 D290N probably damaging Het
Fam122a A G 19: 24,476,584 V258A probably benign Het
Galnt7 T G 8: 57,531,735 probably benign Het
Gm11595 G A 11: 99,772,672 R61C unknown Het
Gucy1a1 T A 3: 82,109,253 I143F possibly damaging Het
Hmcn1 T C 1: 150,737,299 N1410D possibly damaging Het
Ltbp2 G A 12: 84,809,246 T741I probably benign Het
Mdc1 T C 17: 35,852,505 S982P probably benign Het
Mfsd4b2 A G 10: 39,922,197 probably benign Het
Mrgprb5 T G 7: 48,168,424 I188L probably benign Het
Naip6 T A 13: 100,300,354 S554C probably damaging Het
Nav2 A G 7: 49,571,209 N1715D probably damaging Het
Nav3 A T 10: 109,769,258 S985T possibly damaging Het
Nme7 A G 1: 164,328,297 Q22R probably benign Het
Olfr556 T C 7: 102,670,720 W267R probably damaging Het
Ppp1r9a A G 6: 5,115,322 E815G probably damaging Het
Ppp2r2c T A 5: 36,926,400 I95N probably damaging Het
Ppp4r4 G A 12: 103,602,966 E717K possibly damaging Het
Prdm2 A G 4: 143,133,568 S1051P possibly damaging Het
Rnf214 T C 9: 45,899,786 D193G probably damaging Het
Sirpb1b G T 3: 15,543,184 T167K probably damaging Het
Slc16a3 C A 11: 120,956,706 S240* probably null Het
Snx14 T A 9: 88,385,838 probably benign Het
Sorbs2 A G 8: 45,803,829 probably benign Het
Stk-ps2 A T 1: 46,029,362 noncoding transcript Het
Taar7b A T 10: 23,999,976 D13V probably benign Het
Trp53bp1 T C 2: 121,236,025 E740G probably damaging Het
Unc79 C T 12: 103,149,020 A2054V possibly damaging Het
Zfp106 A G 2: 120,523,553 V211A probably benign Het
Zfp112 A G 7: 24,125,954 H449R probably benign Het
Other mutations in Cdh13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00539:Cdh13 APN 8 119312506 missense possibly damaging 0.87
IGL00659:Cdh13 APN 8 119312667 missense probably damaging 1.00
IGL01719:Cdh13 APN 8 118675188 missense probably benign 0.01
IGL02148:Cdh13 APN 8 119198958 missense probably damaging 1.00
IGL02157:Cdh13 APN 8 118505671 missense possibly damaging 0.68
IGL02188:Cdh13 APN 8 118851761 missense probably benign 0.08
IGL02490:Cdh13 APN 8 119095323 missense probably damaging 1.00
IGL02851:Cdh13 APN 8 118675158 missense probably benign 0.32
IGL02958:Cdh13 APN 8 119312721 missense possibly damaging 0.90
IGL03085:Cdh13 APN 8 119288724 missense probably damaging 1.00
IGL03230:Cdh13 APN 8 119242317 missense probably damaging 1.00
IGL03280:Cdh13 APN 8 119314134 missense probably damaging 1.00
K3955:Cdh13 UTSW 8 118675104 missense probably damaging 0.99
P0038:Cdh13 UTSW 8 118675104 missense probably damaging 0.99
R0398:Cdh13 UTSW 8 119314047 missense probably damaging 1.00
R2156:Cdh13 UTSW 8 119236964 missense probably damaging 1.00
R3415:Cdh13 UTSW 8 118675207 missense probably benign 0.35
R4243:Cdh13 UTSW 8 119242257 missense probably damaging 1.00
R4839:Cdh13 UTSW 8 118851848 nonsense probably null
R4851:Cdh13 UTSW 8 118757390 missense possibly damaging 0.75
R5129:Cdh13 UTSW 8 119095215 missense probably damaging 1.00
R5453:Cdh13 UTSW 8 119198967 missense probably damaging 1.00
R5607:Cdh13 UTSW 8 118757474 missense probably benign
R5608:Cdh13 UTSW 8 118757474 missense probably benign
R5610:Cdh13 UTSW 8 118851723 missense possibly damaging 0.95
R6035:Cdh13 UTSW 8 118505698 missense probably benign 0.03
R6035:Cdh13 UTSW 8 118505698 missense probably benign 0.03
R6556:Cdh13 UTSW 8 118968187 missense probably damaging 0.99
R7124:Cdh13 UTSW 8 118968173 missense probably damaging 1.00
R7349:Cdh13 UTSW 8 119242358 missense probably damaging 0.97
R7418:Cdh13 UTSW 8 119312525 missense probably damaging 1.00
R7679:Cdh13 UTSW 8 119236919 missense probably benign 0.29
R7807:Cdh13 UTSW 8 118283855 start codon destroyed probably null 0.77
X0025:Cdh13 UTSW 8 118505679 missense probably benign 0.28
Posted On2014-01-21