Incidental Mutation 'IGL01432:Cdh9'
ID 84179
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh9
Ensembl Gene ENSMUSG00000025370
Gene Name cadherin 9
Synonyms T1-cadherin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL01432
Quality Score
Status
Chromosome 15
Chromosomal Location 16728842-16857180 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16831033 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 290 (K290R)
Ref Sequence ENSEMBL: ENSMUSP00000154022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026432] [ENSMUST00000228307]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026432
AA Change: K290R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026432
Gene: ENSMUSG00000025370
AA Change: K290R

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 damaging
Transcript: ENSMUST00000228307
AA Change: K290R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh9a1 T C 1: 167,183,354 (GRCm39) S191P probably damaging Het
Aldoart2 A T 12: 55,612,566 (GRCm39) I164F probably damaging Het
Anapc1 C A 2: 128,475,328 (GRCm39) A1384S probably damaging Het
Arid5a T G 1: 36,358,514 (GRCm39) S429A possibly damaging Het
Asxl1 A G 2: 153,242,125 (GRCm39) K892E probably benign Het
Bltp1 T A 3: 37,057,908 (GRCm39) V3166E possibly damaging Het
Bpnt1 G A 1: 185,086,218 (GRCm39) W261* probably null Het
Calu A G 6: 29,356,552 (GRCm39) D26G possibly damaging Het
Ccdc113 C T 8: 96,264,885 (GRCm39) probably benign Het
Cd109 T C 9: 78,605,405 (GRCm39) Y1003H probably benign Het
Cep131 G A 11: 119,967,835 (GRCm39) A140V possibly damaging Het
Cfap251 A G 5: 123,418,015 (GRCm39) I81M possibly damaging Het
Chn1 A T 2: 73,462,096 (GRCm39) C236S probably damaging Het
Cntn4 T A 6: 106,655,295 (GRCm39) probably benign Het
Crispld1 A T 1: 17,817,025 (GRCm39) Q194L probably benign Het
Csmd3 A G 15: 47,596,895 (GRCm39) V1981A probably damaging Het
Cttn A G 7: 144,015,043 (GRCm39) I55T probably damaging Het
Ddx46 G T 13: 55,785,835 (GRCm39) probably benign Het
Diaph1 A T 18: 38,030,557 (GRCm39) I299N unknown Het
Dll1 A G 17: 15,588,768 (GRCm39) Y636H probably damaging Het
Eng A T 2: 32,559,544 (GRCm39) Q111L possibly damaging Het
Exoc6 T C 19: 37,578,324 (GRCm39) V389A possibly damaging Het
Fbxw26 T A 9: 109,547,043 (GRCm39) T461S probably benign Het
Gbf1 T C 19: 46,268,434 (GRCm39) Y1269H probably damaging Het
Gm5852 A G 3: 93,635,086 (GRCm39) Y90H possibly damaging Het
Gnrhr C T 5: 86,330,052 (GRCm39) G323R probably damaging Het
Gpr155 T A 2: 73,182,229 (GRCm39) E661D possibly damaging Het
Grik4 A T 9: 42,432,472 (GRCm39) C842S probably damaging Het
Iws1 A G 18: 32,216,519 (GRCm39) probably benign Het
Kif5c A G 2: 49,591,089 (GRCm39) T314A probably damaging Het
Klhdc1 A C 12: 69,298,751 (GRCm39) K112T probably damaging Het
Kmt2a T C 9: 44,720,393 (GRCm39) T3865A unknown Het
Lgr5 T C 10: 115,288,997 (GRCm39) K477R probably damaging Het
Ly75 A T 2: 60,206,351 (GRCm39) L106Q probably damaging Het
Mcph1 T A 8: 18,675,655 (GRCm39) M26K probably damaging Het
Mettl2 T C 11: 105,017,348 (GRCm39) V9A probably benign Het
Mgat5b A G 11: 116,864,202 (GRCm39) D456G probably benign Het
Mstn A G 1: 53,105,689 (GRCm39) T344A possibly damaging Het
Npr1 T A 3: 90,370,543 (GRCm39) I308F possibly damaging Het
Oasl1 G A 5: 115,075,466 (GRCm39) V509M probably benign Het
Obscn T C 11: 58,924,583 (GRCm39) M5727V probably benign Het
Or2d4 T C 7: 106,543,748 (GRCm39) I153M possibly damaging Het
Or4c114 T A 2: 88,904,545 (GRCm39) I297F probably benign Het
Or4k15c T A 14: 50,321,404 (GRCm39) T245S probably benign Het
Or5an1c A G 19: 12,218,891 (GRCm39) S45P probably damaging Het
Pcgf1 T C 6: 83,055,398 (GRCm39) I11T possibly damaging Het
Phactr3 T C 2: 177,924,893 (GRCm39) V276A probably benign Het
Pla2g6 A T 15: 79,202,168 (GRCm39) M1K probably null Het
Plec T C 15: 76,074,728 (GRCm39) E413G probably damaging Het
Plxna2 G T 1: 194,326,626 (GRCm39) A187S possibly damaging Het
Polq A T 16: 36,892,184 (GRCm39) probably benign Het
Pramel51 T C 12: 88,143,202 (GRCm39) K139E probably benign Het
Prss39 A G 1: 34,541,216 (GRCm39) D240G probably benign Het
Ptpn12 A T 5: 21,203,553 (GRCm39) Y408* probably null Het
Ptprt A G 2: 162,109,999 (GRCm39) probably benign Het
Rnf6 A T 5: 146,152,931 (GRCm39) S95T possibly damaging Het
Ryr2 T C 13: 11,866,090 (GRCm39) S287G possibly damaging Het
Samd4b A G 7: 28,113,491 (GRCm39) F158S possibly damaging Het
Slco1a5 T A 6: 142,182,012 (GRCm39) I571L possibly damaging Het
Smchd1 T C 17: 71,738,285 (GRCm39) T527A probably damaging Het
Smg9 T C 7: 24,120,691 (GRCm39) probably null Het
Snx25 A G 8: 46,558,197 (GRCm39) L270P probably damaging Het
Ssh1 G T 5: 114,096,883 (GRCm39) T165N probably benign Het
Stk24 T A 14: 121,540,218 (GRCm39) E127V probably damaging Het
Suco A G 1: 161,661,689 (GRCm39) V914A probably damaging Het
Tbcd T A 11: 121,366,506 (GRCm39) probably benign Het
Tbcel A T 9: 42,355,817 (GRCm39) L114Q possibly damaging Het
Trpm1 A G 7: 63,884,767 (GRCm39) D816G probably benign Het
Uhrf1 G A 17: 56,625,250 (GRCm39) V566M probably damaging Het
Ulk4 T A 9: 121,095,367 (GRCm39) E95D probably damaging Het
Vmn1r40 T C 6: 89,691,201 (GRCm39) M6T probably benign Het
Vmn2r59 C T 7: 41,661,983 (GRCm39) V611I possibly damaging Het
Vwde G T 6: 13,193,239 (GRCm39) H367N probably benign Het
Xpo6 A G 7: 125,723,553 (GRCm39) V585A probably benign Het
Other mutations in Cdh9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00429:Cdh9 APN 15 16,828,448 (GRCm39) missense probably damaging 1.00
IGL00555:Cdh9 APN 15 16,823,492 (GRCm39) missense probably damaging 1.00
IGL01110:Cdh9 APN 15 16,856,012 (GRCm39) missense possibly damaging 0.63
IGL01768:Cdh9 APN 15 16,778,311 (GRCm39) missense possibly damaging 0.51
IGL02043:Cdh9 APN 15 16,856,318 (GRCm39) missense probably damaging 1.00
IGL02304:Cdh9 APN 15 16,848,687 (GRCm39) missense probably benign 0.01
IGL02380:Cdh9 APN 15 16,856,086 (GRCm39) missense possibly damaging 0.79
IGL02505:Cdh9 APN 15 16,856,075 (GRCm39) missense probably damaging 1.00
IGL02675:Cdh9 APN 15 16,849,162 (GRCm39) splice site probably null
IGL02679:Cdh9 APN 15 16,832,316 (GRCm39) missense probably damaging 0.97
IGL03288:Cdh9 APN 15 16,856,135 (GRCm39) missense probably damaging 1.00
R0426:Cdh9 UTSW 15 16,823,540 (GRCm39) critical splice donor site probably null
R0726:Cdh9 UTSW 15 16,831,130 (GRCm39) missense probably benign 0.00
R1335:Cdh9 UTSW 15 16,850,878 (GRCm39) missense probably benign 0.00
R1368:Cdh9 UTSW 15 16,848,568 (GRCm39) splice site probably benign
R1766:Cdh9 UTSW 15 16,778,392 (GRCm39) missense probably damaging 1.00
R1916:Cdh9 UTSW 15 16,823,361 (GRCm39) missense probably benign 0.03
R2325:Cdh9 UTSW 15 16,778,286 (GRCm39) missense probably benign
R2424:Cdh9 UTSW 15 16,850,440 (GRCm39) missense probably damaging 1.00
R3104:Cdh9 UTSW 15 16,855,900 (GRCm39) missense probably damaging 1.00
R3837:Cdh9 UTSW 15 16,823,524 (GRCm39) nonsense probably null
R3839:Cdh9 UTSW 15 16,823,524 (GRCm39) nonsense probably null
R4241:Cdh9 UTSW 15 16,849,165 (GRCm39) critical splice acceptor site probably null
R4248:Cdh9 UTSW 15 16,850,474 (GRCm39) missense probably benign 0.00
R4576:Cdh9 UTSW 15 16,832,325 (GRCm39) missense possibly damaging 0.73
R4679:Cdh9 UTSW 15 16,851,045 (GRCm39) missense probably benign
R4896:Cdh9 UTSW 15 16,778,242 (GRCm39) missense probably benign 0.12
R4961:Cdh9 UTSW 15 16,850,914 (GRCm39) missense probably benign
R5050:Cdh9 UTSW 15 16,778,233 (GRCm39) missense probably benign 0.12
R5089:Cdh9 UTSW 15 16,778,362 (GRCm39) missense probably damaging 1.00
R5268:Cdh9 UTSW 15 16,851,099 (GRCm39) missense probably benign
R5567:Cdh9 UTSW 15 16,855,930 (GRCm39) missense probably damaging 1.00
R5646:Cdh9 UTSW 15 16,823,371 (GRCm39) missense probably damaging 1.00
R5894:Cdh9 UTSW 15 16,832,186 (GRCm39) missense possibly damaging 0.47
R6440:Cdh9 UTSW 15 16,823,509 (GRCm39) missense probably benign 0.01
R6441:Cdh9 UTSW 15 16,823,509 (GRCm39) missense probably benign 0.01
R7225:Cdh9 UTSW 15 16,856,159 (GRCm39) missense probably damaging 1.00
R7247:Cdh9 UTSW 15 16,778,341 (GRCm39) missense probably damaging 1.00
R7593:Cdh9 UTSW 15 16,823,261 (GRCm39) missense probably damaging 1.00
R7615:Cdh9 UTSW 15 16,856,316 (GRCm39) missense probably damaging 1.00
R7632:Cdh9 UTSW 15 16,851,115 (GRCm39) splice site probably null
R7991:Cdh9 UTSW 15 16,828,489 (GRCm39) missense probably damaging 1.00
R8035:Cdh9 UTSW 15 16,831,152 (GRCm39) missense probably damaging 0.97
R8834:Cdh9 UTSW 15 16,850,964 (GRCm39) missense probably damaging 1.00
R8909:Cdh9 UTSW 15 16,848,610 (GRCm39) missense probably damaging 1.00
R8936:Cdh9 UTSW 15 16,831,162 (GRCm39) critical splice donor site probably null
R8973:Cdh9 UTSW 15 16,831,131 (GRCm39) missense possibly damaging 0.78
R9138:Cdh9 UTSW 15 16,823,273 (GRCm39) missense probably damaging 1.00
R9305:Cdh9 UTSW 15 16,832,138 (GRCm39) missense probably damaging 1.00
RF006:Cdh9 UTSW 15 16,855,916 (GRCm39) missense probably damaging 0.97
X0062:Cdh9 UTSW 15 16,848,625 (GRCm39) missense possibly damaging 0.81
Z1177:Cdh9 UTSW 15 16,850,450 (GRCm39) missense probably benign 0.16
Posted On 2013-11-11