Incidental Mutation 'R2324:Cdhr18'
ID 244859
Institutional Source Beutler Lab
Gene Symbol Cdhr18
Ensembl Gene ENSMUSG00000084902
Gene Name cadherin related family member 18
Synonyms Gm281, LOC238939
MMRRC Submission 040315-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R2324 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 8555242-8646046 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 13868077 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 204 (I204N)
Ref Sequence ENSEMBL: ENSMUSP00000121887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000144914]
AlphaFold D3Z1Y0
Predicted Effect probably damaging
Transcript: ENSMUST00000144914
AA Change: I204N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121887
Gene: ENSMUSG00000084902
AA Change: I204N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157171
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna T C 4: 63,290,039 (GRCm39) D1223G possibly damaging Het
Ankrd42 C A 7: 92,273,186 (GRCm39) R147L probably damaging Het
Cep152 T C 2: 125,405,382 (GRCm39) I1717V probably benign Het
Clca3a2 A G 3: 144,512,041 (GRCm39) probably null Het
Coa8 A G 12: 111,690,784 (GRCm39) E112G possibly damaging Het
Dnhd1 A T 7: 105,359,297 (GRCm39) H3544L probably damaging Het
Dpy19l4 T C 4: 11,276,857 (GRCm39) probably benign Het
Efcab8 A G 2: 153,625,729 (GRCm39) probably null Het
Esyt2 A G 12: 116,331,441 (GRCm39) N773S possibly damaging Het
Hectd4 G A 5: 121,453,500 (GRCm39) G613D probably damaging Het
Ints12 G A 3: 132,815,126 (GRCm39) M444I possibly damaging Het
Ints3 A G 3: 90,301,401 (GRCm39) L827P probably damaging Het
Irf9 T C 14: 55,843,367 (GRCm39) probably null Het
Lactb2 T C 1: 13,708,520 (GRCm39) D176G probably damaging Het
Lmntd2 A T 7: 140,790,701 (GRCm39) S516T possibly damaging Het
Lrp1 C A 10: 127,402,455 (GRCm39) A2239S possibly damaging Het
Lrrc56 A G 7: 140,785,476 (GRCm39) probably benign Het
Nfic A G 10: 81,241,921 (GRCm39) probably null Het
Notch3 G A 17: 32,369,108 (GRCm39) probably benign Het
Oas2 T C 5: 120,881,339 (GRCm39) K251E probably benign Het
Or5k15 T C 16: 58,710,503 (GRCm39) T27A probably benign Het
Pabpc4 T C 4: 123,191,571 (GRCm39) probably benign Het
Piwil4 C T 9: 14,648,204 (GRCm39) R125H possibly damaging Het
Rbsn A G 6: 92,170,947 (GRCm39) Y325H probably damaging Het
Rhox2e C A X: 36,712,516 (GRCm39) P69Q probably damaging Het
Skint6 T C 4: 112,729,654 (GRCm39) probably null Het
Tmem165 T C 5: 76,352,671 (GRCm39) probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ttc13 A G 8: 125,405,796 (GRCm39) V499A probably damaging Het
Vax2 G T 6: 83,688,307 (GRCm39) R10L possibly damaging Het
Zfp988 A C 4: 147,417,242 (GRCm39) K559Q probably benign 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
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'- GCTTGCTAAATTGCTTCATTCTCAG -3'
(R):5'- GCTAAGGAATTTCCATATCCTTCCATC -3'

Sequencing Primer
(F):5'- AAATTGCTTCATTCTCAGCTAAAAAG -3'
(R):5'- ATATCCTTCCATCCCCCTTTTATAGG -3'
Posted On 2014-10-30