Incidental Mutation 'IGL02380:Cdh9'
ID291350
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh9
Ensembl Gene ENSMUSG00000025370
Gene Namecadherin 9
SynonymsT1-cadherin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.249) question?
Stock #IGL02380
Quality Score
Status
Chromosome15
Chromosomal Location16728756-16857094 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 16856000 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 709 (I709V)
Ref Sequence ENSEMBL: ENSMUSP00000154022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026432] [ENSMUST00000228307]
Predicted Effect possibly damaging
Transcript: ENSMUST00000026432
AA Change: I709V

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000026432
Gene: ENSMUSG00000025370
AA Change: I709V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
CA 75 156 2.84e-15 SMART
CA 180 265 5.63e-28 SMART
CA 289 381 1.12e-13 SMART
CA 404 485 8.03e-24 SMART
CA 508 595 1.34e-2 SMART
transmembrane domain 613 635 N/A INTRINSIC
Pfam:Cadherin_C 638 782 1.5e-54 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000228307
AA Change: I709V

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout results in the formation of abnormal axonal arbors in some retinal type 5 bipolar cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C A 7: 40,994,544 P546T possibly damaging Het
Abca13 T C 11: 9,291,599 I1154T possibly damaging Het
Abca8a A G 11: 110,078,815 probably benign Het
Acsm5 A T 7: 119,537,286 Q360L probably benign Het
Adamtsl5 T C 10: 80,341,778 E350G probably benign Het
Adgrl2 A T 3: 148,828,489 L1017* probably null Het
Aqr T C 2: 114,109,936 D1243G probably damaging Het
Arhgef17 G T 7: 100,929,443 P766Q possibly damaging Het
Bclaf1 T C 10: 20,325,367 V413A possibly damaging Het
Bcr A G 10: 75,175,299 D14G probably benign Het
Cadps2 C T 6: 23,287,732 V1190I probably benign Het
Cnbd1 C A 4: 18,887,748 probably null Het
Cnbd1 T A 4: 18,887,749 probably null Het
Col4a3 T C 1: 82,672,788 probably benign Het
Coro1a T A 7: 126,703,116 K20* probably null Het
Crb2 T A 2: 37,783,435 D114E probably damaging Het
Dnah6 C A 6: 73,076,640 K2870N probably benign Het
Fam196a A T 7: 134,899,144 probably null Het
Fpr3 A G 17: 17,970,992 H175R probably benign Het
Gk5 T G 9: 96,150,480 S248A possibly damaging Het
Grm4 T A 17: 27,434,661 I772F probably damaging Het
Gstt4 A G 10: 75,817,239 I163T possibly damaging Het
Hr A G 14: 70,557,761 R278G probably damaging Het
Igfbp5 T A 1: 72,863,949 R156* probably null Het
Ighv1-4 G A 12: 114,487,133 probably benign Het
Kcna2 A C 3: 107,104,958 Q285P probably benign Het
Klf5 A T 14: 99,301,458 R102S possibly damaging Het
Ldb1 A T 19: 46,034,490 M252K possibly damaging Het
Lrrc66 T C 5: 73,629,666 I114V possibly damaging Het
Map1b A T 13: 99,431,143 I1690N unknown Het
Myo1a A G 10: 127,714,485 T565A probably benign Het
Nt5c T C 11: 115,491,301 D84G possibly damaging Het
Pde1b A G 15: 103,519,990 N51S possibly damaging Het
Pikfyve T A 1: 65,256,021 L1437Q probably damaging Het
Pld5 C T 1: 176,140,044 V82I probably damaging Het
Psmb6 T A 11: 70,525,911 N42K probably benign Het
Slco3a1 G A 7: 74,554,490 S34F probably damaging Het
Slfn9 A G 11: 82,981,220 Y897H probably benign Het
Spag6l T C 16: 16,763,169 probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmem215 A T 4: 40,474,534 I204F probably benign Het
Txnl1 A G 18: 63,674,043 probably null Het
Ube2q2 T A 9: 55,163,012 D79E probably benign Het
Ugt2a3 T C 5: 87,336,799 D122G probably benign Het
Vmn2r73 A T 7: 85,858,175 I643K probably benign Het
Xkrx T A X: 134,150,639 H421L probably benign Het
Other mutations in Cdh9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Cdh9 APN 15 16828362 missense probably damaging 1.00
IGL00555:Cdh9 APN 15 16823406 missense probably damaging 1.00
IGL01110:Cdh9 APN 15 16855926 missense possibly damaging 0.63
IGL01432:Cdh9 APN 15 16830947 missense probably damaging 1.00
IGL01768:Cdh9 APN 15 16778225 missense possibly damaging 0.51
IGL02043:Cdh9 APN 15 16856232 missense probably damaging 1.00
IGL02304:Cdh9 APN 15 16848601 missense probably benign 0.01
IGL02505:Cdh9 APN 15 16855989 missense probably damaging 1.00
IGL02675:Cdh9 APN 15 16849076 splice site probably null
IGL02679:Cdh9 APN 15 16832230 missense probably damaging 0.97
IGL03288:Cdh9 APN 15 16856049 missense probably damaging 1.00
R0426:Cdh9 UTSW 15 16823454 critical splice donor site probably null
R0726:Cdh9 UTSW 15 16831044 missense probably benign 0.00
R1335:Cdh9 UTSW 15 16850792 missense probably benign 0.00
R1368:Cdh9 UTSW 15 16848482 splice site probably benign
R1766:Cdh9 UTSW 15 16778306 missense probably damaging 1.00
R1916:Cdh9 UTSW 15 16823275 missense probably benign 0.03
R2325:Cdh9 UTSW 15 16778200 missense probably benign
R2424:Cdh9 UTSW 15 16850354 missense probably damaging 1.00
R3104:Cdh9 UTSW 15 16855814 missense probably damaging 1.00
R3837:Cdh9 UTSW 15 16823438 nonsense probably null
R3839:Cdh9 UTSW 15 16823438 nonsense probably null
R4241:Cdh9 UTSW 15 16849079 critical splice acceptor site probably null
R4248:Cdh9 UTSW 15 16850388 missense probably benign 0.00
R4576:Cdh9 UTSW 15 16832239 missense possibly damaging 0.73
R4679:Cdh9 UTSW 15 16850959 missense probably benign
R4896:Cdh9 UTSW 15 16778156 missense probably benign 0.12
R4961:Cdh9 UTSW 15 16850828 missense probably benign
R5050:Cdh9 UTSW 15 16778147 missense probably benign 0.12
R5089:Cdh9 UTSW 15 16778276 missense probably damaging 1.00
R5268:Cdh9 UTSW 15 16851013 missense probably benign
R5567:Cdh9 UTSW 15 16855844 missense probably damaging 1.00
R5646:Cdh9 UTSW 15 16823285 missense probably damaging 1.00
R5894:Cdh9 UTSW 15 16832100 missense possibly damaging 0.47
R6440:Cdh9 UTSW 15 16823423 missense probably benign 0.01
R6441:Cdh9 UTSW 15 16823423 missense probably benign 0.01
X0062:Cdh9 UTSW 15 16848539 missense possibly damaging 0.81
Posted On2015-04-16