Incidental Mutation 'R4604:Cdh18'
ID 345927
Institutional Source Beutler Lab
Gene Symbol Cdh18
Ensembl Gene ENSMUSG00000040420
Gene Name cadherin 18
Synonyms B230220E17Rik
MMRRC Submission 041816-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R4604 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 22549108-23474504 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23474454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 775 (K775E)
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: K775E

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000130851
Gene: ENSMUSG00000040420
AA Change: K775E

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik C T 2: 156,699,074 (GRCm39) probably benign Het
Abcb6 G A 1: 75,156,521 (GRCm39) T81I probably benign Het
Acp6 A G 3: 97,083,075 (GRCm39) K362R probably benign Het
Adam26a A G 8: 44,023,088 (GRCm39) M134T probably benign Het
Ankrd27 C T 7: 35,327,915 (GRCm39) P812S probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atp2a1 G A 7: 126,047,795 (GRCm39) R672C probably damaging Het
Atxn2 G T 5: 121,919,406 (GRCm39) W371C probably damaging Het
B3gnt2 T TTCACAAA 11: 22,786,426 (GRCm39) probably null Het
Btnl6 T A 17: 34,727,435 (GRCm39) D365V possibly damaging Het
Ccdc80 T A 16: 44,915,928 (GRCm39) L228Q probably damaging Het
Cdc42bpa A G 1: 179,936,759 (GRCm39) H718R probably benign Het
Cdh23 T G 10: 60,173,445 (GRCm39) N1679T possibly damaging Het
Cep192 T A 18: 67,948,993 (GRCm39) D271E possibly damaging Het
Cfap70 G T 14: 20,493,729 (GRCm39) T124K probably benign Het
Ckap5 A T 2: 91,408,476 (GRCm39) E890D probably benign Het
Col22a1 G T 15: 71,824,188 (GRCm39) P569T probably benign Het
Colq A T 14: 31,267,060 (GRCm39) L150Q possibly damaging Het
Csf1 T C 3: 107,664,278 (GRCm39) probably null Het
Csmd3 A T 15: 47,868,211 (GRCm39) S770T possibly damaging Het
Cul9 C A 17: 46,841,072 (GRCm39) V733L probably damaging Het
Cyp2c55 A G 19: 39,019,830 (GRCm39) D256G possibly damaging Het
Dclk3 A T 9: 111,298,253 (GRCm39) D599V probably damaging Het
Defb26 T A 2: 152,350,104 (GRCm39) I59F possibly damaging Het
Dnah6 A G 6: 73,106,643 (GRCm39) V1646A possibly damaging Het
Dnm2 T C 9: 21,415,960 (GRCm39) probably null Het
Dock6 A G 9: 21,713,836 (GRCm39) L1867P probably damaging Het
Dock9 G T 14: 121,905,871 (GRCm39) T93K probably damaging Het
Dync2h1 T C 9: 7,140,995 (GRCm39) H1344R probably benign Het
Enam A C 5: 88,652,142 (GRCm39) Q1217P possibly damaging Het
Fbf1 A T 11: 116,049,748 (GRCm39) D91E possibly damaging Het
Fbxo7 T G 10: 85,882,666 (GRCm39) W393G probably damaging Het
Gab2 A G 7: 96,953,420 (GRCm39) T599A probably damaging Het
Gfy T A 7: 44,826,612 (GRCm39) I409F possibly damaging Het
Gm19345 T A 7: 19,591,433 (GRCm39) probably null Het
Gm4787 A G 12: 81,425,987 (GRCm39) M57T probably benign Het
Gper1 A G 5: 139,412,480 (GRCm39) E275G probably damaging Het
Grik4 T C 9: 42,435,882 (GRCm39) E803G probably damaging Het
Gstm3 G A 3: 107,875,513 (GRCm39) P39L possibly damaging Het
Hax1 A T 3: 89,904,767 (GRCm39) V142D probably damaging Het
Hcn3 A T 3: 89,057,747 (GRCm39) I383N probably damaging Het
Hdac10 C A 15: 89,009,600 (GRCm39) probably null Het
Hipk3 A C 2: 104,269,674 (GRCm39) M505R probably damaging Het
Hivep1 C T 13: 42,313,225 (GRCm39) P1822S probably benign Het
Hsd17b13 G T 5: 104,104,124 (GRCm39) H281N unknown Het
Ilrun T C 17: 28,039,289 (GRCm39) D7G probably damaging Het
Irak2 T A 6: 113,649,848 (GRCm39) I222N probably damaging Het
Kalrn G A 16: 34,334,296 (GRCm39) L7F possibly damaging Het
Kcnma1 A G 14: 23,359,106 (GRCm39) probably null Het
Kcnn3 G T 3: 89,427,727 (GRCm39) probably benign Het
Lamb1 A C 12: 31,328,775 (GRCm39) D218A probably damaging Het
Lrrtm1 A T 6: 77,221,127 (GRCm39) N195Y probably damaging Het
Ltf A T 9: 110,851,409 (GRCm39) N72I probably damaging Het
Mcm4 A G 16: 15,447,527 (GRCm39) I479T probably damaging Het
Mfhas1 T C 8: 36,055,764 (GRCm39) S80P probably benign Het
Mknk1 A G 4: 115,735,224 (GRCm39) E364G probably damaging Het
Msh4 C T 3: 153,577,920 (GRCm39) C458Y probably damaging Het
Mtrr A T 13: 68,712,631 (GRCm39) probably null Het
Myo1a T C 10: 127,547,007 (GRCm39) W356R probably damaging Het
Nbea A G 3: 55,631,069 (GRCm39) V2186A probably benign Het
Nfe2l3 T C 6: 51,427,992 (GRCm39) S185P probably damaging Het
Nhsl1 A C 10: 18,407,158 (GRCm39) K1397Q probably damaging Het
Nmbr C T 10: 14,645,908 (GRCm39) R261W probably damaging Het
Npy2r A G 3: 82,448,365 (GRCm39) S137P probably damaging Het
Obscn C T 11: 58,971,031 (GRCm39) G2494D probably damaging Het
Obscn T C 11: 59,013,572 (GRCm39) K1092E probably damaging Het
Oosp2 A C 19: 11,627,047 (GRCm39) I92S probably benign Het
Or5ar1 C T 2: 85,671,526 (GRCm39) C203Y probably damaging Het
Pcdh9 T C 14: 94,124,616 (GRCm39) D518G probably damaging Het
Pde11a G T 2: 76,168,137 (GRCm39) T272K possibly damaging Het
Plekha2 T A 8: 25,549,851 (GRCm39) Q162L probably null Het
Prkag2 T A 5: 25,083,732 (GRCm39) I84F probably damaging Het
Prm2 G T 16: 10,609,613 (GRCm39) probably benign Het
Prpf40a A T 2: 53,032,035 (GRCm39) C800S probably damaging Het
Prr5l A T 2: 101,559,793 (GRCm39) C158S probably benign Het
Prrt3 C A 6: 113,475,198 (GRCm39) C8F possibly damaging Het
Psg25 T C 7: 18,263,728 (GRCm39) T32A probably benign Het
Ruvbl1 T C 6: 88,462,887 (GRCm39) V337A probably benign Het
Sall1 T A 8: 89,756,969 (GRCm39) Q1045L probably damaging Het
Sec22c T C 9: 121,524,708 (GRCm39) Y25C probably damaging Het
Serpina3i A T 12: 104,234,036 (GRCm39) T335S possibly damaging Het
Setd1b TCCACCACCACCACCACCACCACCA TCCACCACCACCACCACCACCA 5: 123,290,137 (GRCm39) probably benign Het
Slc12a8 T A 16: 33,428,529 (GRCm39) I279N probably damaging Het
Slc15a1 G A 14: 121,727,319 (GRCm39) T83I probably damaging Het
Slc22a3 A G 17: 12,678,658 (GRCm39) F222S probably benign Het
Sorcs3 A T 19: 48,682,353 (GRCm39) T463S probably benign Het
Spsb4 C A 9: 96,877,931 (GRCm39) A131S probably benign Het
Sting1 T A 18: 35,871,743 (GRCm39) I170F probably damaging Het
Syne2 A G 12: 76,014,484 (GRCm39) E3225G probably damaging Het
Tchp G A 5: 114,857,634 (GRCm39) probably null Het
Tekt4 T A 17: 25,690,749 (GRCm39) D18E probably benign Het
Timm50 A G 7: 28,010,443 (GRCm39) V37A probably benign Het
Tlx2 A C 6: 83,045,741 (GRCm39) *285G probably null Het
Tshz1 C A 18: 84,031,499 (GRCm39) D970Y probably damaging Het
Ttn A T 2: 76,700,805 (GRCm39) V50E probably damaging Het
Txndc17 T A 11: 72,100,274 (GRCm39) S113T probably benign Het
Tyk2 T C 9: 21,019,305 (GRCm39) Y1039C probably damaging Het
Ubqln3 A G 7: 103,791,698 (GRCm39) S131P probably benign Het
Uncx A T 5: 139,529,837 (GRCm39) H30L possibly damaging Het
Usp25 T A 16: 76,912,303 (GRCm39) D1007E probably damaging Het
Usp47 T C 7: 111,701,038 (GRCm39) V1083A probably damaging Het
Wdr24 T A 17: 26,047,479 (GRCm39) H765Q probably damaging Het
Wrnip1 A G 13: 32,986,330 (GRCm39) D37G probably damaging Het
Xpo6 T C 7: 125,712,924 (GRCm39) T686A possibly damaging Het
Zfp941 G A 7: 140,392,124 (GRCm39) R412C probably damaging Het
Znrf2 T A 6: 54,855,425 (GRCm39) C71* probably null 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
IGL01758:Cdh18 APN 15 23,474,269 (GRCm39) missense probably benign 0.20
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
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
Predicted Primers PCR Primer
(F):5'- CGAGACATCAGACCTTGTCCAC -3'
(R):5'- GTTCCAAGTACTGTTTCGGC -3'

Sequencing Primer
(F):5'- ACCCTGGAGAGCATAGACGTTC -3'
(R):5'- CAAGTACTGTTTCGGCTTGAC -3'
Posted On 2015-09-25