Incidental Mutation 'R1770:Cdh18'
ID 196516
Institutional Source Beutler Lab
Gene Symbol Cdh18
Ensembl Gene ENSMUSG00000040420
Gene Name cadherin 18
Synonyms B230220E17Rik
MMRRC Submission 039801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R1770 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 22549108-23474504 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23474487 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 786 (S786P)
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: S786P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130851
Gene: ENSMUSG00000040420
AA Change: S786P

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
Meta Mutation Damage Score 0.0598 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.8%
Validation Efficiency 92% (69/75)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T C 12: 84,661,874 (GRCm39) T84A probably benign Het
Adgra1 T A 7: 139,453,947 (GRCm39) Y161* probably null Het
Aldoart1 G T 4: 72,770,173 (GRCm39) H212N probably benign Het
Aldob A G 4: 49,536,861 (GRCm39) Y343H probably damaging Het
Ankrd17 A T 5: 90,391,235 (GRCm39) V2036E possibly damaging Het
Ass1 A G 2: 31,376,528 (GRCm39) T131A probably benign Het
Baz1a C T 12: 54,945,293 (GRCm39) R1354H probably damaging Het
C2cd2l A G 9: 44,228,108 (GRCm39) V71A probably benign Het
C4b T A 17: 34,955,901 (GRCm39) N678I possibly damaging Het
Carmil1 A G 13: 24,357,657 (GRCm39) L64P probably damaging Het
Cep135 A G 5: 76,751,042 (GRCm39) E296G possibly damaging Het
Chml G A 1: 175,515,444 (GRCm39) T159I probably benign Het
Cntn3 C T 6: 102,246,166 (GRCm39) E328K possibly damaging Het
Cstf1 A G 2: 172,214,983 (GRCm39) I35V possibly damaging Het
Cyp2c65 A G 19: 39,070,642 (GRCm39) K275R probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dbx2 T C 15: 95,522,615 (GRCm39) E364G probably benign Het
Dcaf13 A T 15: 38,993,633 (GRCm39) N242I probably damaging Het
Dcc A G 18: 71,579,470 (GRCm39) V701A probably benign Het
Elapor2 A T 5: 9,468,021 (GRCm39) T230S probably benign Het
Fastkd5 A T 2: 130,456,200 (GRCm39) Y797N probably damaging Het
Fat4 T A 3: 39,064,417 (GRCm39) I4791K probably damaging Het
Gm3852 T C 1: 46,051,048 (GRCm39) I45V possibly damaging Het
Gng4 A G 13: 13,999,851 (GRCm39) D40G probably damaging Het
Gns A G 10: 121,213,952 (GRCm39) D209G probably benign Het
Kif6 C A 17: 50,210,677 (GRCm39) Q791K possibly damaging Het
Klhl35 G A 7: 99,123,082 (GRCm39) V569M possibly damaging Het
Krt1c A G 15: 101,719,589 (GRCm39) S694P unknown Het
Lrrc8c A G 5: 105,754,603 (GRCm39) Y126C probably damaging Het
Mad2l1bp A G 17: 46,463,838 (GRCm39) V62A probably benign Het
Map1b T C 13: 99,567,001 (GRCm39) R1907G unknown Het
Mertk A G 2: 128,592,094 (GRCm39) I273V probably benign Het
Mfsd4b1 A G 10: 39,879,223 (GRCm39) Y225H probably damaging Het
Mrc2 T C 11: 105,229,619 (GRCm39) V684A probably damaging Het
Msh6 G A 17: 88,287,651 (GRCm39) W97* probably null Het
Mtmr10 A G 7: 63,986,469 (GRCm39) I516V possibly damaging Het
Myo7a A T 7: 97,761,813 (GRCm39) probably benign Het
Ndufs5 T C 4: 123,606,661 (GRCm39) Y92C probably benign Het
Nlrp1b C T 11: 71,050,979 (GRCm39) V1035I probably benign Het
Ntrk2 A G 13: 59,009,132 (GRCm39) R308G possibly damaging Het
Or12e13 A G 2: 87,663,643 (GRCm39) I87V probably benign Het
Pcdhb16 G T 18: 37,612,233 (GRCm39) G398W probably damaging Het
Plpbp T A 8: 27,543,326 (GRCm39) S237T probably damaging Het
Pnpla6 T A 8: 3,584,634 (GRCm39) F769I possibly damaging Het
Polk A G 13: 96,631,950 (GRCm39) V261A probably damaging Het
Prss52 C T 14: 64,351,082 (GRCm39) A289V probably damaging Het
Puf60 T C 15: 75,942,723 (GRCm39) K407E probably benign Het
Pzp T C 6: 128,462,580 (GRCm39) D1455G probably damaging Het
Ranbp17 T C 11: 33,167,301 (GRCm39) N1054S probably benign Het
Sdk2 A G 11: 113,684,567 (GRCm39) S1965P probably benign Het
Spryd7 T C 14: 61,777,654 (GRCm39) Y142C probably damaging Het
Srrt A T 5: 137,298,122 (GRCm39) probably benign Het
Stk10 A G 11: 32,572,464 (GRCm39) E935G possibly damaging Het
Tas2r115 G A 6: 132,714,934 (GRCm39) R6C probably damaging Het
Tdrd7 T A 4: 45,987,681 (GRCm39) probably benign Het
Trim29 A T 9: 43,243,673 (GRCm39) Q564L probably damaging Het
Trim5 T C 7: 103,925,868 (GRCm39) D231G probably damaging Het
Trpv2 A G 11: 62,487,787 (GRCm39) K676E probably benign Het
Ttn T C 2: 76,583,859 (GRCm39) R22383G probably damaging Het
Ugt1a2 A G 1: 88,129,160 (GRCm39) I268V probably benign Het
Ugt8a T C 3: 125,667,852 (GRCm39) N330D probably benign Het
Utrn G A 10: 12,351,040 (GRCm39) H2822Y probably damaging Het
Vmn1r176 G A 7: 23,534,946 (GRCm39) A69V probably benign Het
Vmn2r106 T C 17: 20,488,560 (GRCm39) Y613C probably damaging Het
Wdfy1 A T 1: 79,686,857 (GRCm39) W296R probably damaging Het
Zfp11 G A 5: 129,734,822 (GRCm39) T213I possibly damaging Het
Zfp142 A T 1: 74,618,790 (GRCm39) F193I probably damaging Het
Zfp764 G A 7: 127,004,739 (GRCm39) Q131* 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
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
Predicted Primers PCR Primer
(F):5'- TGAAGCTCACTCCGAGACATCAGAC -3'
(R):5'- GGGCACTTGTTTCTACAGGAGCTG -3'

Sequencing Primer
(F):5'- TGTCCACCCTGGAGAGCATAG -3'
(R):5'- GTGTACAGCTTGCTCAGTTC -3'
Posted On 2014-05-23