Incidental Mutation 'R0842:Cdhr18'
ID 77231
Institutional Source Beutler Lab
Gene Symbol Cdhr18
Ensembl Gene ENSMUSG00000084902
Gene Name cadherin related family member 18
Synonyms Gm281, LOC238939
MMRRC Submission 039021-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R0842 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 8555242-8646046 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 13856686 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 475 (S475L)
Ref Sequence ENSEMBL: ENSMUSP00000121887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000144914]
AlphaFold D3Z1Y0
Predicted Effect probably benign
Transcript: ENSMUST00000144914
AA Change: S475L

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000121887
Gene: ENSMUSG00000084902
AA Change: S475L

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: 99.4%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl8 C A 9: 21,746,972 (GRCm39) Y53* probably null Het
Apbb1ip G A 2: 22,757,678 (GRCm39) R432Q possibly damaging Het
Catsperb A T 12: 101,429,307 (GRCm39) Q160L probably damaging Het
Cilp2 T C 8: 70,335,768 (GRCm39) Y410C probably damaging Het
Cntnap5a G A 1: 116,369,953 (GRCm39) G857S probably damaging Het
D630045J12Rik A T 6: 38,125,400 (GRCm39) V1538E probably damaging Het
Dnah7a A G 1: 53,540,833 (GRCm39) S2514P possibly damaging Het
Eme1 C T 11: 94,541,700 (GRCm39) A41T probably benign Het
F11 T C 8: 45,705,196 (GRCm39) Y115C probably damaging Het
Fap A T 2: 62,367,345 (GRCm39) W313R probably damaging Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Ggt6 T A 11: 72,328,088 (GRCm39) L158* probably null Het
Herc2 A C 7: 55,771,453 (GRCm39) I1072L probably benign Het
Hhat T C 1: 192,408,639 (GRCm39) N164S probably benign Het
Klrb1 A G 6: 128,687,008 (GRCm39) probably null Het
L3mbtl4 T A 17: 68,793,957 (GRCm39) D320E probably benign Het
Lyst C A 13: 13,852,826 (GRCm39) Y2275* probably null Het
Map4k3 T C 17: 80,913,412 (GRCm39) N611S probably benign Het
Morc3 T C 16: 93,670,284 (GRCm39) probably null Het
Mtr A C 13: 12,215,133 (GRCm39) Y864D probably damaging Het
Myh2 C T 11: 67,070,350 (GRCm39) A431V possibly damaging Het
Myo9a C A 9: 59,778,350 (GRCm39) Q1369K probably benign Het
Nalf1 T A 8: 9,820,114 (GRCm39) D302V probably benign Het
Nat3 T C 8: 68,000,649 (GRCm39) I176T probably benign Het
Ncapd3 C T 9: 26,948,380 (GRCm39) T54I probably benign Het
Nfyc C A 4: 120,616,574 (GRCm39) E281D probably benign Het
Nlrp14 A G 7: 106,782,342 (GRCm39) D513G probably benign Het
Pacsin2 T C 15: 83,263,382 (GRCm39) E83G probably damaging Het
Plagl1 G T 10: 13,004,298 (GRCm39) probably benign Het
Pmpcb T C 5: 21,953,772 (GRCm39) L340P possibly damaging Het
Pou2af3 T C 9: 51,183,668 (GRCm39) E102G probably benign Het
Pou2f2 A T 7: 24,796,355 (GRCm39) L364Q probably damaging Het
Rab1b A T 19: 5,154,697 (GRCm39) I84N probably damaging Het
Ric3 T C 7: 108,638,087 (GRCm39) Y222C probably damaging Het
Samhd1 A G 2: 156,965,251 (GRCm39) V188A probably damaging Het
Socs4 T A 14: 47,527,426 (GRCm39) H107Q probably damaging Het
Tex15 T A 8: 34,061,575 (GRCm39) I335K possibly damaging Het
Thoc2l T A 5: 104,667,066 (GRCm39) N529K possibly damaging Het
Thop1 C A 10: 80,911,411 (GRCm39) T99K probably damaging Het
Tnik A G 3: 28,648,235 (GRCm39) E429G possibly damaging Het
Vmn2r106 T A 17: 20,488,465 (GRCm39) I645F probably damaging Het
Zscan29 T A 2: 120,991,960 (GRCm39) R609S possibly damaging Het
Other mutations in Cdhr18
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0115:Cdhr18 UTSW 14 13,899,571 (GRCm38) missense probably damaging 0.99
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
R4370:Cdhr18 UTSW 14 13,862,375 (GRCm38) missense probably benign 0.03
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'- GAGCATTGCCAGTAAAGAGAAACTCCT -3'
(R):5'- TGTGGAAACACCAATCATTTGGAGGT -3'

Sequencing Primer
(F):5'- TCTGAAGGTGTTATGTCCAACCAC -3'
(R):5'- aacacCAATCATTTGGAGGTAGAAAG -3'
Posted On 2013-10-16