Incidental Mutation 'IGL02304:Cdh9'
ID287525
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 #IGL02304
Quality Score
Status
Chromosome15
Chromosomal Location16728756-16857094 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 16848601 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 456 (T456S)
Ref Sequence ENSEMBL: ENSMUSP00000154022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026432] [ENSMUST00000228307]
Predicted Effect probably benign
Transcript: ENSMUST00000026432
AA Change: T456S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000026432
Gene: ENSMUSG00000025370
AA Change: T456S

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 noncoding transcript
Transcript: ENSMUST00000227900
Predicted Effect probably benign
Transcript: ENSMUST00000228307
AA Change: T456S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930546C10Rik G T 18: 68,950,051 H31N unknown Het
Adamts8 A G 9: 30,956,656 N592S possibly damaging Het
Atp1a2 C A 1: 172,289,353 E232D probably benign Het
Cacnb3 A T 15: 98,642,382 D323V probably damaging Het
Cep162 A T 9: 87,227,147 probably benign Het
Clvs2 T C 10: 33,528,447 M258V probably benign Het
Col6a5 T C 9: 105,928,414 T1098A unknown Het
Foxs1 T C 2: 152,932,350 D261G probably benign Het
Gas2l2 T C 11: 83,424,238 probably benign Het
Gins4 A T 8: 23,232,609 M98K probably benign Het
Gm12355 C T 11: 98,625,538 R3H probably benign Het
Gm9637 A T 14: 19,402,545 noncoding transcript Het
Herc1 A G 9: 66,476,414 D3720G probably benign Het
Kcnh5 C T 12: 74,976,697 M532I probably benign Het
Kcnk18 T C 19: 59,234,863 Y147H probably damaging Het
Kif21a A T 15: 90,965,535 F55Y probably damaging Het
Krt15 T A 11: 100,133,677 I278F possibly damaging Het
L3mbtl4 T A 17: 68,587,185 Y395* probably null Het
Mcm3ap T A 10: 76,484,738 N843K possibly damaging Het
Mpdz G A 4: 81,297,559 probably benign Het
Mpdz T C 4: 81,310,157 K1337E possibly damaging Het
Ms4a6d T C 19: 11,603,141 probably benign Het
Myo7a G T 7: 98,077,736 R922S possibly damaging Het
Nek1 G T 8: 61,012,167 G97C probably damaging Het
Obscn A G 11: 59,076,622 Y2963H probably damaging Het
Olfr1138 C T 2: 87,737,986 V113M probably benign Het
Olfr1294 T C 2: 111,537,401 N296S probably benign Het
Olfr731 T C 14: 50,238,760 N42D probably damaging Het
Prmt3 G A 7: 49,826,737 V365I probably benign Het
Prrc2c T C 1: 162,684,136 T958A probably benign Het
Ptprb T C 10: 116,331,259 Y947H probably damaging Het
Pus10 C T 11: 23,712,275 S315L probably damaging Het
Rmi1 C A 13: 58,409,476 S513* probably null Het
Sec14l3 C T 11: 4,074,768 P239L probably damaging Het
Slc44a3 T C 3: 121,527,074 T93A possibly damaging Het
Stat1 G A 1: 52,132,544 A125T probably benign Het
Tigd2 C T 6: 59,211,698 Q517* probably null Het
Trav13d-3 C T 14: 53,033,380 Q100* probably null Het
Trim67 G A 8: 124,825,952 D598N probably damaging Het
Trio A G 15: 27,735,436 L2856P probably damaging 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
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
X0062:Cdh9 UTSW 15 16848539 missense possibly damaging 0.81
Posted On2015-04-16