Incidental Mutation 'IGL01758:Cdh18'
ID 153477
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdh18
Ensembl Gene ENSMUSG00000040420
Gene Name cadherin 18
Synonyms B230220E17Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL01758
Quality Score
Status
Chromosome 15
Chromosomal Location 22549108-23474504 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23474269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 713 (Q713R)
Ref Sequence ENSEMBL: ENSMUSP00000130851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164787] [ENSMUST00000165614] [ENSMUST00000167623] [ENSMUST00000226693]
AlphaFold E9Q9Q6
Predicted Effect probably benign
Transcript: ENSMUST00000164787
AA Change: Q713R

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130851
Gene: ENSMUSG00000040420
AA Change: Q713R

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
CA 76 157 4.24e-14 SMART
CA 181 266 1.37e-31 SMART
CA 290 382 2.76e-13 SMART
CA 405 486 3.86e-26 SMART
CA 509 596 3.7e-5 SMART
transmembrane domain 614 636 N/A INTRINSIC
Pfam:Cadherin_C 639 783 6.8e-54 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165614
SMART Domains Protein: ENSMUSP00000128643
Gene: ENSMUSG00000040420

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
CA 76 157 4.24e-14 SMART
CA 181 266 1.37e-31 SMART
CA 290 382 2.76e-13 SMART
CA 405 486 3.86e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167623
SMART Domains Protein: ENSMUSP00000128011
Gene: ENSMUSG00000040420

DomainStartEndE-ValueType
CA 22 103 4.24e-14 SMART
CA 127 212 1.37e-31 SMART
CA 236 328 2.76e-13 SMART
CA 351 414 4.15e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000226693
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 of 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. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. This particular cadherin is expressed specifically in the central nervous system and is putatively involved in synaptic adhesion, axon outgrowth and guidance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,901,645 (GRCm39) D860G possibly damaging Het
Acot7 T C 4: 152,302,250 (GRCm39) C121R probably damaging Het
Adam19 A T 11: 46,003,751 (GRCm39) H193L probably benign Het
AI661453 T A 17: 47,777,548 (GRCm39) probably benign Het
Bod1l T C 5: 41,983,953 (GRCm39) probably benign Het
Brd4 T C 17: 32,431,803 (GRCm39) probably benign Het
Capn12 G A 7: 28,586,048 (GRCm39) probably null Het
Cfap52 A T 11: 67,844,406 (GRCm39) L103Q possibly damaging Het
Dpy19l4 T A 4: 11,265,846 (GRCm39) T475S probably damaging Het
Dync2i1 G A 12: 116,182,418 (GRCm39) P728L possibly damaging Het
Fat2 A T 11: 55,187,035 (GRCm39) D1270E probably damaging Het
Hfm1 T C 5: 107,052,659 (GRCm39) K275E probably damaging Het
Ift172 T C 5: 31,438,058 (GRCm39) D426G probably benign Het
Mrc1 T C 2: 14,243,059 (GRCm39) S62P probably damaging Het
Or13f5 G T 4: 52,825,468 (GRCm39) E24* probably null Het
Or8b50 T A 9: 38,518,589 (GRCm39) I276K probably damaging Het
Ptgs2 A T 1: 149,977,740 (GRCm39) probably null Het
Rxfp1 T A 3: 79,559,523 (GRCm39) I433F possibly damaging Het
Sbf1 C T 15: 89,187,418 (GRCm39) probably benign Het
Serpinb13 T G 1: 106,928,484 (GRCm39) F368C probably damaging Het
Slc9c1 T A 16: 45,361,824 (GRCm39) S80R probably damaging Het
Spats2l G T 1: 57,918,715 (GRCm39) V30L probably damaging Het
Stat1 A G 1: 52,176,080 (GRCm39) E195G probably damaging Het
Tbx5 T A 5: 119,983,023 (GRCm39) probably benign Het
Tmem165 A G 5: 76,352,010 (GRCm39) T164A probably damaging Het
Trim66 A T 7: 109,085,252 (GRCm39) probably null Het
Trip10 T A 17: 57,568,409 (GRCm39) V405E possibly damaging Het
Vmn2r92 T A 17: 18,372,275 (GRCm39) C28* probably null Het
Zbtb8a C T 4: 129,251,640 (GRCm39) C277Y probably damaging Het
Zfp638 T C 6: 83,956,508 (GRCm39) F1705S probably damaging Het
Other mutations in Cdh18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00973:Cdh18 APN 15 23,173,882 (GRCm39) missense probably damaging 0.97
IGL01663:Cdh18 APN 15 23,446,077 (GRCm39) missense possibly damaging 0.92
IGL02192:Cdh18 APN 15 23,460,402 (GRCm39) missense probably damaging 1.00
IGL02448:Cdh18 APN 15 23,173,875 (GRCm39) missense probably benign 0.00
IGL02717:Cdh18 APN 15 23,410,801 (GRCm39) nonsense probably null
IGL03241:Cdh18 APN 15 23,227,019 (GRCm39) missense probably benign 0.19
IGL03268:Cdh18 APN 15 23,366,953 (GRCm39) missense probably damaging 1.00
IGL03307:Cdh18 APN 15 23,226,872 (GRCm39) missense probably damaging 1.00
R0316:Cdh18 UTSW 15 23,366,999 (GRCm39) missense probably damaging 1.00
R0462:Cdh18 UTSW 15 23,366,971 (GRCm39) missense probably damaging 1.00
R0607:Cdh18 UTSW 15 23,410,876 (GRCm39) missense probably benign 0.01
R0761:Cdh18 UTSW 15 23,226,838 (GRCm39) missense possibly damaging 0.87
R0973:Cdh18 UTSW 15 23,474,081 (GRCm39) missense probably damaging 0.99
R1110:Cdh18 UTSW 15 23,474,403 (GRCm39) missense probably benign 0.00
R1550:Cdh18 UTSW 15 23,436,634 (GRCm39) missense probably damaging 1.00
R1656:Cdh18 UTSW 15 23,474,485 (GRCm39) missense probably benign 0.38
R1682:Cdh18 UTSW 15 23,400,671 (GRCm39) missense probably benign 0.05
R1770:Cdh18 UTSW 15 23,474,487 (GRCm39) missense probably benign
R1829:Cdh18 UTSW 15 23,173,938 (GRCm39) missense probably damaging 1.00
R2253:Cdh18 UTSW 15 23,410,891 (GRCm39) missense probably benign 0.00
R2435:Cdh18 UTSW 15 23,367,094 (GRCm39) missense probably damaging 1.00
R3914:Cdh18 UTSW 15 23,410,771 (GRCm39) missense probably damaging 1.00
R3964:Cdh18 UTSW 15 23,474,187 (GRCm39) missense probably benign
R4002:Cdh18 UTSW 15 23,383,048 (GRCm39) missense possibly damaging 0.48
R4291:Cdh18 UTSW 15 22,714,637 (GRCm39) intron probably benign
R4581:Cdh18 UTSW 15 23,226,869 (GRCm39) missense probably damaging 1.00
R4604:Cdh18 UTSW 15 23,474,454 (GRCm39) missense probably benign 0.05
R4625:Cdh18 UTSW 15 22,714,128 (GRCm39) intron probably benign
R4786:Cdh18 UTSW 15 23,410,873 (GRCm39) missense probably null 1.00
R4811:Cdh18 UTSW 15 23,226,877 (GRCm39) missense probably benign 0.30
R5023:Cdh18 UTSW 15 23,259,752 (GRCm39) missense probably damaging 1.00
R5094:Cdh18 UTSW 15 22,714,625 (GRCm39) intron probably benign
R5278:Cdh18 UTSW 15 23,474,244 (GRCm39) missense probably benign 0.04
R5416:Cdh18 UTSW 15 23,226,809 (GRCm39) missense probably damaging 1.00
R5503:Cdh18 UTSW 15 23,436,620 (GRCm39) missense probably damaging 0.96
R5617:Cdh18 UTSW 15 23,226,854 (GRCm39) missense probably damaging 0.97
R5982:Cdh18 UTSW 15 23,474,302 (GRCm39) missense possibly damaging 0.89
R6240:Cdh18 UTSW 15 23,227,022 (GRCm39) missense possibly damaging 0.82
R6475:Cdh18 UTSW 15 23,227,022 (GRCm39) missense possibly damaging 0.82
R6649:Cdh18 UTSW 15 23,436,620 (GRCm39) missense possibly damaging 0.87
R6700:Cdh18 UTSW 15 23,474,191 (GRCm39) missense probably benign
R6718:Cdh18 UTSW 15 23,226,835 (GRCm39) missense probably benign 0.15
R6796:Cdh18 UTSW 15 23,446,159 (GRCm39) missense probably damaging 1.00
R7330:Cdh18 UTSW 15 23,227,036 (GRCm39) missense possibly damaging 0.46
R7429:Cdh18 UTSW 15 23,366,942 (GRCm39) missense possibly damaging 0.89
R7477:Cdh18 UTSW 15 23,410,811 (GRCm39) missense probably benign
R7516:Cdh18 UTSW 15 23,259,684 (GRCm39) splice site probably null
R7519:Cdh18 UTSW 15 23,474,298 (GRCm39) missense possibly damaging 0.68
R7575:Cdh18 UTSW 15 23,400,683 (GRCm39) nonsense probably null
R7618:Cdh18 UTSW 15 23,367,056 (GRCm39) missense probably damaging 1.00
R7844:Cdh18 UTSW 15 23,410,873 (GRCm39) missense probably damaging 1.00
R7870:Cdh18 UTSW 15 23,474,413 (GRCm39) missense possibly damaging 0.94
R8288:Cdh18 UTSW 15 23,446,073 (GRCm39) missense probably damaging 1.00
R8420:Cdh18 UTSW 15 23,474,138 (GRCm39) missense possibly damaging 0.94
R8430:Cdh18 UTSW 15 23,226,770 (GRCm39) missense probably damaging 1.00
R8916:Cdh18 UTSW 15 23,410,813 (GRCm39) missense probably damaging 0.99
R9093:Cdh18 UTSW 15 23,474,064 (GRCm39) missense probably damaging 1.00
R9183:Cdh18 UTSW 15 23,227,065 (GRCm39) critical splice donor site probably null
R9399:Cdh18 UTSW 15 23,173,899 (GRCm39) missense probably damaging 1.00
R9531:Cdh18 UTSW 15 23,436,562 (GRCm39) missense probably benign
Z1189:Cdh18 UTSW 15 23,474,369 (GRCm39) missense probably benign 0.17
Posted On 2014-02-04