Incidental Mutation 'IGL02490:Cdh13'
ID295585
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 #IGL02490
Quality Score
Status
Chromosome8
Chromosomal Location118283733-119324921 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119095323 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 307 (D307G)
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: D307G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113527
Gene: ENSMUSG00000031841
AA Change: D307G

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: 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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D06Rik A G 6: 89,101,577 noncoding transcript Het
Adam5 A T 8: 24,781,704 Y562* probably null Het
Akr1d1 T C 6: 37,558,488 V269A probably damaging Het
Anks4b A G 7: 120,174,018 T34A probably damaging Het
Arhgef40 A G 14: 51,989,195 N232S probably damaging Het
Cdc40 C T 10: 40,841,771 V379I probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Ces1h A G 8: 93,356,999 probably null Het
Chchd6 T A 6: 89,384,674 H249L possibly damaging Het
Cul1 T C 6: 47,514,886 V392A probably damaging Het
Cwc15 A T 9: 14,502,024 D34V probably damaging Het
Cyp2c39 T C 19: 39,539,002 I264T probably damaging Het
Dapk1 A G 13: 60,749,334 D789G probably damaging Het
Dcdc2a T A 13: 25,107,652 Y207N probably damaging Het
Efcab1 T A 16: 14,916,946 V60E probably benign Het
Flt3 T A 5: 147,331,296 N960Y probably damaging Het
Fmn1 C T 2: 113,529,472 probably benign Het
Foxm1 T A 6: 128,373,351 C400* probably null Het
Ftmt A C 18: 52,331,688 R25S probably benign Het
Guca1b T C 17: 47,389,265 probably benign Het
Hectd4 A T 5: 121,318,613 K680N possibly damaging Het
Hephl1 C A 9: 15,053,685 R1138L probably benign Het
Il1rl2 T A 1: 40,356,812 probably benign Het
Ints2 A T 11: 86,233,183 I593K possibly damaging Het
Iqcg T A 16: 33,035,567 K213* probably null Het
Kif1b T A 4: 149,204,208 S1259C probably benign Het
Klc1 C T 12: 111,781,776 T371M possibly damaging Het
Loxl4 T C 19: 42,604,830 T301A probably benign Het
Lrrc40 T C 3: 158,062,699 L497P probably damaging Het
Masp2 C T 4: 148,607,943 R298W possibly damaging Het
Myo5a A T 9: 75,136,455 Y242F probably damaging Het
Nup98 A G 7: 102,152,366 V784A probably damaging Het
Olfr1138 T C 2: 87,737,955 Y123C probably damaging Het
Osbpl1a G T 18: 12,882,284 probably benign Het
Pcdh10 A G 3: 45,380,487 Y412C probably damaging Het
Pfkfb2 T A 1: 130,700,852 Y339F probably damaging Het
Plcb2 T C 2: 118,719,760 N172D probably damaging Het
Plec T C 15: 76,189,263 Y517C probably damaging Het
Plod2 G T 9: 92,586,842 A207S probably benign Het
Plxdc1 A T 11: 97,954,778 D229E probably benign Het
Ppp3cb A G 14: 20,531,658 probably null Het
Procr T C 2: 155,753,432 L52P probably damaging Het
Psme2b G T 11: 48,946,119 probably benign Het
Rgs22 G A 15: 36,054,847 A727V probably damaging Het
Rock2 T A 12: 16,948,563 W277R probably damaging Het
Rpl26 A G 11: 68,904,390 D112G probably damaging Het
Rxfp1 C A 3: 79,652,167 probably null Het
Sdr39u1 G A 14: 55,898,341 P98L probably damaging Het
Sgms1 T C 19: 32,160,143 K8E probably damaging Het
Stk31 T C 6: 49,417,535 V277A probably benign Het
Trav15-1-dv6-1 A C 14: 53,560,131 E79A probably benign Het
Ttll6 A T 11: 96,156,720 D715V possibly damaging Het
Ush2a T C 1: 188,810,364 S3376P probably damaging Het
Vmn2r109 T A 17: 20,540,984 T704S possibly damaging Het
Zfp27 T A 7: 29,894,935 H535L possibly damaging Het
Zfp609 A T 9: 65,703,968 V571D possibly damaging Het
Zfp874a A T 13: 67,442,700 Y288* probably null Het
Zfp993 T C 4: 146,657,617 S133P probably damaging 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
IGL01662:Cdh13 APN 8 118675177 missense probably damaging 0.99
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
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
X0025:Cdh13 UTSW 8 118505679 missense probably benign 0.28
Posted On2015-04-16