Incidental Mutation 'IGL02043:Cdh9'
ID184858
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: 0.153) question?
Stock #IGL02043
Quality Score
Status
Chromosome15
Chromosomal Location16728756-16857094 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 16856232 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 786 (D786V)
Ref Sequence ENSEMBL: ENSMUSP00000154022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026432] [ENSMUST00000228307]
Predicted Effect probably damaging
Transcript: ENSMUST00000026432
AA Change: D786V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026432
Gene: ENSMUSG00000025370
AA Change: D786V

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 probably damaging
Transcript: ENSMUST00000228307
AA Change: D786V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610037L13Rik T G 4: 107,894,868 probably benign Het
Atp1b2 T C 11: 69,605,276 T33A probably benign Het
Brd2 A T 17: 34,112,616 probably benign Het
Carmil1 T C 13: 24,024,316 probably benign Het
Cep128 A C 12: 91,266,730 probably benign Het
Cep85 T C 4: 134,155,727 T284A probably benign Het
Chrna1 C T 2: 73,568,106 E330K probably benign Het
Clec2l T C 6: 38,676,850 Y104H probably damaging Het
Clybl G T 14: 122,379,252 K226N probably damaging Het
Cmip T A 8: 117,445,328 D467E probably benign Het
Cpne3 A T 4: 19,543,340 probably null Het
Crisp4 A G 1: 18,134,100 V46A probably damaging Het
Csnk2a1 T C 2: 152,274,150 Y261H probably damaging Het
Cul5 C A 9: 53,658,673 G86V probably benign Het
Depdc7 T C 2: 104,730,281 T123A probably benign Het
Edem2 T C 2: 155,705,741 T384A probably damaging Het
F8 C T X: 75,332,641 M377I probably benign Het
Fan1 T A 7: 64,371,619 probably null Het
Fez2 T C 17: 78,381,622 D366G probably damaging Het
Gm4841 A C 18: 60,270,965 S19A probably benign Het
Gm4862 T A 3: 139,128,635 noncoding transcript Het
Hk3 T A 13: 55,015,095 Q44L probably damaging Het
Irgm1 C A 11: 48,866,815 L56F probably damaging Het
Ldlr A G 9: 21,733,499 T108A probably benign Het
Lgr4 T A 2: 110,011,290 M516K probably damaging Het
Lrp1b T C 2: 40,697,525 N3906S probably null Het
Lrrtm4 A G 6: 80,021,862 N86D possibly damaging Het
Map3k2 A G 18: 32,207,534 D198G probably damaging Het
Mapkapk3 C T 9: 107,262,422 probably null Het
Mvp A T 7: 126,993,618 Y374N probably damaging Het
Myo3a T C 2: 22,399,965 S711P probably benign Het
Myom3 A G 4: 135,770,675 K189E probably damaging Het
Naip1 T A 13: 100,426,796 K620N probably benign Het
Nlrp10 T C 7: 108,925,502 E257G probably damaging Het
Nptn T G 9: 58,640,729 M139R possibly damaging Het
Nrk T G X: 138,988,795 M1105R possibly damaging Het
Olfr357 T A 2: 36,997,465 Y218* probably null Het
Olfr519 A T 7: 108,893,839 C189* probably null Het
Olfr963 T G 9: 39,669,078 V7G probably damaging Het
Pcdhb16 A G 18: 37,479,195 T403A probably benign Het
Pcyt1b A G X: 93,702,116 E50G possibly damaging Het
Pigg C T 5: 108,344,324 T892I probably damaging Het
Ppig T G 2: 69,735,983 probably null Het
Prr12 A G 7: 45,050,005 probably benign Het
Slc5a5 G T 8: 70,892,429 A78E possibly damaging Het
Slc7a2 T G 8: 40,911,058 M436R probably benign Het
Sp7 T A 15: 102,359,255 M39L probably benign Het
Spag8 T A 4: 43,653,134 probably benign Het
Svep1 A G 4: 58,068,556 S3077P probably benign Het
Tmem30a A T 9: 79,774,089 probably benign Het
Tmem63a C T 1: 180,972,788 T714I probably benign Het
Trank1 T C 9: 111,363,960 L535P probably damaging Het
Tuba8 A C 6: 121,220,511 N44T probably benign Het
Wnk1 A G 6: 119,949,078 probably benign Het
Zfp654 A T 16: 64,785,028 I396K 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
IGL02304:Cdh9 APN 15 16848601 missense probably benign 0.01
IGL02380:Cdh9 APN 15 16856000 missense possibly damaging 0.79
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
R7225:Cdh9 UTSW 15 16856073 missense probably damaging 1.00
R7247:Cdh9 UTSW 15 16778255 missense probably damaging 1.00
R7593:Cdh9 UTSW 15 16823175 missense probably damaging 1.00
R7615:Cdh9 UTSW 15 16856230 missense probably damaging 1.00
RF006:Cdh9 UTSW 15 16855830 missense probably damaging 0.97
X0062:Cdh9 UTSW 15 16848539 missense possibly damaging 0.81
Posted On2014-05-07