Incidental Mutation 'R4370:Cdhr18'
ID 325966
Institutional Source Beutler Lab
Gene Symbol Cdhr18
Ensembl Gene ENSMUSG00000084902
Gene Name cadherin related family member 18
Synonyms Gm281, LOC238939
MMRRC Submission 041674-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R4370 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 8555242-8646046 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 13862375 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 393 (S393N)
Ref Sequence ENSEMBL: ENSMUSP00000121887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000144914]
AlphaFold D3Z1Y0
Predicted Effect probably benign
Transcript: ENSMUST00000144914
AA Change: S393N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000121887
Gene: ENSMUSG00000084902
AA Change: S393N

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
CA 32 127 3.45e-2 SMART
CA 156 230 7.87e-9 SMART
CA 274 352 1.36e-3 SMART
CA 376 470 6.99e-3 SMART
CA 492 563 8.69e-11 SMART
CA 589 683 2.09e-1 SMART
transmembrane domain 705 727 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T A 2: 127,720,708 (GRCm39) D190E possibly damaging Het
Alg11 C A 8: 22,558,095 (GRCm39) A469E probably benign Het
Armc2 A T 10: 41,793,196 (GRCm39) N809K probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bmal2 A T 6: 146,711,149 (GRCm39) E51V probably damaging Het
Cage1 G A 13: 38,209,626 (GRCm39) S11F probably damaging Het
Car15 T C 16: 17,653,299 (GRCm39) I289M probably damaging Het
Cfap100 A T 6: 90,390,376 (GRCm39) I242N probably damaging Het
Dst GAA GA 1: 34,290,809 (GRCm39) probably null Het
Epdr1 C A 13: 19,803,576 (GRCm39) V53F probably benign Het
Igfn1 A G 1: 135,895,844 (GRCm39) M1574T probably benign Het
Kat6a T C 8: 23,401,945 (GRCm39) I438T possibly damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Krtap4-7 G A 11: 99,534,543 (GRCm39) P107S unknown Het
Lrp6 A C 6: 134,483,321 (GRCm39) Y461* probably null Het
Mecom T A 3: 30,011,504 (GRCm39) E723V probably damaging Het
Nsd3 T A 8: 26,138,524 (GRCm39) I258N probably benign Het
Or10q12 T C 19: 13,746,315 (GRCm39) V203A probably benign Het
Or5k8 T A 16: 58,644,956 (GRCm39) M39L probably benign Het
Or8k32 A T 2: 86,368,764 (GRCm39) I165N possibly damaging Het
Rb1cc1 A G 1: 6,318,771 (GRCm39) D730G probably damaging Het
Sacs A G 14: 61,449,758 (GRCm39) R3935G probably damaging Het
Setd5 A G 6: 113,098,766 (GRCm39) K800E probably damaging Het
Slc26a4 G T 12: 31,579,475 (GRCm39) Q596K probably benign Het
Slc38a4 T A 15: 96,906,965 (GRCm39) N258Y possibly damaging Het
Sntb1 A G 15: 55,655,487 (GRCm39) I243T probably damaging Het
Sspo A G 6: 48,443,282 (GRCm39) S2051G probably null Het
Sys1 T C 2: 164,303,315 (GRCm39) W10R probably damaging Het
Tgm2 G A 2: 157,966,221 (GRCm39) R478* probably null Het
Tgm6 T C 2: 129,985,525 (GRCm39) Y443H probably benign Het
Tor2a T A 2: 32,648,870 (GRCm39) D113E probably benign Het
Trio C A 15: 27,748,423 (GRCm39) E1266* probably null Het
Usp40 T C 1: 87,925,597 (GRCm39) I211V probably benign Het
Zfp791 C T 8: 85,840,235 (GRCm39) V11M probably damaging Het
Other mutations in Cdhr18
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0115:Cdhr18 UTSW 14 13,899,571 (GRCm38) missense probably damaging 0.99
R0842:Cdhr18 UTSW 14 13,856,686 (GRCm38) missense probably benign 0.16
R1252:Cdhr18 UTSW 14 13,862,444 (GRCm38) missense probably benign 0.00
R1275:Cdhr18 UTSW 14 13,896,949 (GRCm38) missense probably damaging 1.00
R1631:Cdhr18 UTSW 14 13,829,796 (GRCm38) missense probably damaging 0.99
R1831:Cdhr18 UTSW 14 13,899,619 (GRCm38) missense probably damaging 1.00
R1885:Cdhr18 UTSW 14 13,828,607 (GRCm38) missense probably damaging 1.00
R1886:Cdhr18 UTSW 14 13,828,607 (GRCm38) missense probably damaging 1.00
R1887:Cdhr18 UTSW 14 13,828,607 (GRCm38) missense probably damaging 1.00
R1903:Cdhr18 UTSW 14 13,829,657 (GRCm38) missense possibly damaging 0.94
R1940:Cdhr18 UTSW 14 13,828,582 (GRCm38) missense probably null 0.95
R2324:Cdhr18 UTSW 14 13,868,077 (GRCm38) missense probably damaging 1.00
R3923:Cdhr18 UTSW 14 13,865,990 (GRCm38) nonsense probably null
R4193:Cdhr18 UTSW 14 13,914,416 (GRCm38) missense probably benign 0.02
R4195:Cdhr18 UTSW 14 13,829,772 (GRCm38) missense probably benign 0.05
R4675:Cdhr18 UTSW 14 13,856,724 (GRCm38) missense probably benign 0.32
R4734:Cdhr18 UTSW 14 13,845,292 (GRCm38) missense probably benign 0.13
R5387:Cdhr18 UTSW 14 13,914,438 (GRCm38) start codon destroyed probably null 0.82
R6037:Cdhr18 UTSW 14 13,864,282 (GRCm38) missense probably damaging 1.00
R6037:Cdhr18 UTSW 14 13,864,282 (GRCm38) missense probably damaging 1.00
R6177:Cdhr18 UTSW 14 13,868,002 (GRCm38) missense probably benign 0.08
R7051:Cdhr18 UTSW 14 13,828,486 (GRCm38) missense
R7205:Cdhr18 UTSW 14 13,866,032 (GRCm38) missense
R7258:Cdhr18 UTSW 14 13,899,648 (GRCm38) missense
R7833:Cdhr18 UTSW 14 13,896,968 (GRCm38) splice site probably null
R8309:Cdhr18 UTSW 14 13,814,954 (GRCm38) nonsense probably null
R8911:Cdhr18 UTSW 14 13,823,796 (GRCm38) critical splice acceptor site probably null
R9124:Cdhr18 UTSW 14 13,864,354 (GRCm38) missense
R9458:Cdhr18 UTSW 14 13,856,709 (GRCm38) missense
R9594:Cdhr18 UTSW 14 13,814,959 (GRCm38) missense unknown
Z1177:Cdhr18 UTSW 14 13,845,421 (GRCm38) missense
Z1177:Cdhr18 UTSW 14 13,823,754 (GRCm38) missense
Predicted Primers PCR Primer
(F):5'- GCAGAAGAGCCCAGAATTCTC -3'
(R):5'- CCAGGATTATCAAGGCCCATAC -3'

Sequencing Primer
(F):5'- GAAGAGCCCAGAATTCTCCTCTACTC -3'
(R):5'- GGATTATCAAGGCCCATACATAGAC -3'
Posted On 2015-07-06