Incidental Mutation 'R4786:Cdh18'
ID 367122
Institutional Source Beutler Lab
Gene Symbol Cdh18
Ensembl Gene ENSMUSG00000040420
Gene Name cadherin 18
Synonyms B230220E17Rik
MMRRC Submission 041995-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R4786 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 22549108-23474504 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23410873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 453 (W453R)
Ref Sequence ENSEMBL: ENSMUSP00000153905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164787] [ENSMUST00000165614] [ENSMUST00000167623] [ENSMUST00000226693]
AlphaFold E9Q9Q6
Predicted Effect noncoding transcript
Transcript: ENSMUST00000040427
Predicted Effect probably null
Transcript: ENSMUST00000164787
AA Change: W453R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130851
Gene: ENSMUSG00000040420
AA Change: W453R

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 null
Transcript: ENSMUST00000165614
AA Change: W453R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128643
Gene: ENSMUSG00000040420
AA Change: W453R

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 null
Transcript: ENSMUST00000167623
AA Change: W399R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128011
Gene: ENSMUSG00000040420
AA Change: W399R

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 noncoding transcript
Transcript: ENSMUST00000226326
Predicted Effect probably null
Transcript: ENSMUST00000226693
AA Change: W453R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A T 12: 55,106,321 (GRCm39) I134N possibly damaging Het
Acvr1c T C 2: 58,170,366 (GRCm39) Y414C probably damaging Het
Adam32 A C 8: 25,353,509 (GRCm39) S693R probably damaging Het
Aldh2 A T 5: 121,710,887 (GRCm39) F314Y probably benign Het
Anks1 A G 17: 28,271,704 (GRCm39) D874G possibly damaging Het
Ap4b1 T A 3: 103,726,120 (GRCm39) V372E probably benign Het
Aqp12 G A 1: 92,934,177 (GRCm39) C18Y probably damaging Het
Arap1 T A 7: 101,034,212 (GRCm39) I218N possibly damaging Het
Arhgap42 C A 9: 9,238,703 (GRCm39) E28* probably null Het
Asb5 G A 8: 55,038,874 (GRCm39) E247K probably benign Het
Atg9b T C 5: 24,591,087 (GRCm39) D781G possibly damaging Het
Atxn10 A G 15: 85,271,344 (GRCm39) H294R probably benign Het
Bod1l G T 5: 41,976,781 (GRCm39) T1511K probably benign Het
Btnl2 A T 17: 34,582,322 (GRCm39) N296I probably damaging Het
Camta1 A T 4: 151,374,496 (GRCm39) L168H probably damaging Het
Cant1 A T 11: 118,299,665 (GRCm39) V265E possibly damaging Het
Ccdc157 T C 11: 4,101,861 (GRCm39) D20G probably damaging Het
Cd209c T G 8: 3,995,698 (GRCm39) T35P possibly damaging Het
Cdc20b G A 13: 113,215,268 (GRCm39) V279M probably damaging Het
Cdh24 A G 14: 54,875,007 (GRCm39) S333P possibly damaging Het
Ceacam11 T C 7: 17,706,239 (GRCm39) probably null Het
Ciz1 C T 2: 32,267,539 (GRCm39) P150L probably damaging Het
Crip3 C A 17: 46,741,968 (GRCm39) Q152K possibly damaging Het
Dars2 G A 1: 160,888,330 (GRCm39) R197W probably damaging Het
Dctn4 A G 18: 60,688,267 (GRCm39) D394G probably damaging Het
Dido1 T C 2: 180,312,664 (GRCm39) Y1077C possibly damaging Het
Dnhd1 A G 7: 105,323,651 (GRCm39) T641A probably benign Het
Egln3 A T 12: 54,232,367 (GRCm39) I146N probably damaging Het
Eif2ak3 C T 6: 70,869,602 (GRCm39) T763M possibly damaging Het
Etfbkmt A T 6: 149,048,744 (GRCm39) M1L probably benign Het
Fam171a1 A T 2: 3,226,615 (GRCm39) I583F probably damaging Het
Fbxo38 A C 18: 62,662,745 (GRCm39) L249W probably damaging Het
Fxyd5 T C 7: 30,740,907 (GRCm39) probably benign Het
Gabrr3 C A 16: 59,250,463 (GRCm39) T154K probably benign Het
Gm7233 C A 14: 43,038,347 (GRCm39) D90E probably benign Het
Gm8186 A G 17: 26,318,014 (GRCm39) V61A probably benign Het
Gnao1 A G 8: 94,670,931 (GRCm39) I137V probably benign Het
Gnptab A G 10: 88,272,044 (GRCm39) M945V probably damaging Het
Gpsm1 G A 2: 26,212,493 (GRCm39) A78T probably benign Het
Gtf2b T C 3: 142,487,230 (GRCm39) L222P probably damaging Het
Hnrnpf A G 6: 117,900,857 (GRCm39) Y47C probably damaging Het
Itga6 A G 2: 71,669,034 (GRCm39) N608S possibly damaging Het
Kdm2b T C 5: 123,018,917 (GRCm39) probably null Het
Krit1 T A 5: 3,862,467 (GRCm39) H207Q possibly damaging Het
Ky A G 9: 102,419,186 (GRCm39) N398D probably benign Het
Lama1 T A 17: 68,080,854 (GRCm39) V1294E possibly damaging Het
Lef1 C T 3: 130,905,173 (GRCm39) T18I probably damaging Het
Lrp2 T C 2: 69,368,300 (GRCm39) N178S probably damaging Het
Lrrc36 A G 8: 106,181,910 (GRCm39) T525A probably benign Het
Map3k8 A T 18: 4,340,647 (GRCm39) C222* probably null Het
Mapre2 G C 18: 24,011,016 (GRCm39) S199T probably benign Het
Mcm3ap A G 10: 76,324,300 (GRCm39) N911S probably benign Het
Mroh4 G T 15: 74,482,083 (GRCm39) H722Q probably benign Het
Muc21 A T 17: 35,930,221 (GRCm39) probably benign Het
Myo5b A C 18: 74,828,451 (GRCm39) Y701S probably benign Het
Myt1l G T 12: 29,861,457 (GRCm39) V80L unknown Het
Ncoa7 C A 10: 30,531,638 (GRCm39) V24L probably benign Het
Nlrp10 A T 7: 108,524,445 (GRCm39) V345D probably damaging Het
Nmral1 C A 16: 4,534,288 (GRCm39) G51V probably damaging Het
Npc1 A G 18: 12,332,554 (GRCm39) I797T probably benign Het
Or4x6 A T 2: 89,949,351 (GRCm39) I197N possibly damaging Het
Or8g22 T A 9: 38,958,783 (GRCm39) R22* probably null Het
Or8g34 A T 9: 39,373,137 (GRCm39) I134L probably benign Het
Pclo A T 5: 14,773,281 (GRCm39) I4419F unknown Het
Phf3 C A 1: 30,855,638 (GRCm39) E983* probably null Het
Pitpnm2 A T 5: 124,259,806 (GRCm39) Y1149* probably null Het
Sdc3 A T 4: 130,550,079 (GRCm39) T430S probably damaging Het
Sema3f A G 9: 107,559,881 (GRCm39) V671A probably benign Het
Sigirr T G 7: 140,671,346 (GRCm39) S379R probably benign Het
Slc25a23 T A 17: 57,354,326 (GRCm39) N360I possibly damaging Het
Slco6c1 A T 1: 97,015,720 (GRCm39) M357K probably benign Het
Sox14 C A 9: 99,757,018 (GRCm39) M240I probably benign Het
Stradb A T 1: 59,030,367 (GRCm39) probably benign Het
Szt2 A T 4: 118,256,259 (GRCm39) M200K probably benign Het
Tef T C 15: 81,699,453 (GRCm39) S85P probably benign Het
Thada T A 17: 84,766,283 (GRCm39) H41L possibly damaging Het
Tinagl1 A G 4: 130,067,724 (GRCm39) F90S probably benign Het
Tnfaip1 G A 11: 78,421,045 (GRCm39) T5I possibly damaging Het
Tnfrsf23 A T 7: 143,233,801 (GRCm39) V59D probably damaging Het
Tnpo3 A G 6: 29,578,541 (GRCm39) V311A probably benign Het
Trak1 T A 9: 121,301,560 (GRCm39) M772K probably benign Het
Ubash3a A G 17: 31,436,938 (GRCm39) D185G probably benign Het
Vmn2r120 T C 17: 57,829,048 (GRCm39) T516A probably benign Het
Wdr4 A C 17: 31,728,785 (GRCm39) L130R probably damaging Het
Zfp12 T C 5: 143,231,257 (GRCm39) I528T probably damaging Het
Zfp607a T C 7: 27,578,838 (GRCm39) L636P 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
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
R4604:Cdh18 UTSW 15 23,474,454 (GRCm39) missense probably benign 0.05
R4625:Cdh18 UTSW 15 22,714,128 (GRCm39) intron probably benign
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'- CTGCAATGTTGACTGGCTATATC -3'
(R):5'- ACATCATGCTGGGATGAAAGTG -3'

Sequencing Primer
(F):5'- GACTGGCTATATCAAGTTGACAGCC -3'
(R):5'- GTGAACGAAAAACTCTAAAACGTAC -3'
Posted On 2015-12-29