Incidental Mutation 'R6705:Or13a18'
ID 528897
Institutional Source Beutler Lab
Gene Symbol Or13a18
Ensembl Gene ENSMUSG00000093942
Gene Name olfactory receptor family 13 subfamily A member 18
Synonyms IB7, IF5, ID12, GA_x6K02T2PBJ9-42759973-42760905, Olfr46, MOR253-8
MMRRC Submission 044823-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R6705 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 140181253-140191037 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 140190697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 206 (M206K)
Ref Sequence ENSEMBL: ENSMUSP00000072445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072655] [ENSMUST00000211771] [ENSMUST00000214180]
AlphaFold Q8VGJ4
Predicted Effect probably damaging
Transcript: ENSMUST00000072655
AA Change: M206K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000072445
Gene: ENSMUSG00000093942
AA Change: M206K

DomainStartEndE-ValueType
Pfam:7tm_4 39 315 1.1e-50 PFAM
Pfam:7TM_GPCR_Srsx 43 209 5.9e-8 PFAM
Pfam:7tm_1 49 298 3.4e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000211771
AA Change: M198K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214180
AA Change: M198K

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.7%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 G A 19: 57,204,253 (GRCm39) T46I probably benign Het
Afdn G A 17: 14,108,283 (GRCm39) V1269I probably benign Het
Aldh5a1 A T 13: 25,096,253 (GRCm39) N448K probably damaging Het
Cant1 G T 11: 118,298,698 (GRCm39) T355K probably damaging Het
Ccn2 T A 10: 24,471,853 (GRCm39) L25Q probably damaging Het
Comp C A 8: 70,829,387 (GRCm39) N321K probably damaging Het
D1Pas1 G T 1: 186,700,576 (GRCm39) E168D probably benign Het
Ddx23 G A 15: 98,550,849 (GRCm39) R111* probably null Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Erlin2 T A 8: 27,526,468 (GRCm39) L276Q probably damaging Het
Etaa1 T C 11: 17,895,639 (GRCm39) N826S probably benign Het
Fam168b A T 1: 34,867,864 (GRCm39) N45K probably damaging Het
Gas2l2 G A 11: 83,313,462 (GRCm39) R617* probably null Het
Gtf3c2 C A 5: 31,323,352 (GRCm39) C533F possibly damaging Het
Hdac5 T C 11: 102,092,062 (GRCm39) T676A probably damaging Het
Helb A G 10: 119,925,716 (GRCm39) probably null Het
Igkv3-7 A T 6: 70,585,004 (GRCm39) S95C probably benign Het
Kdm3b A G 18: 34,952,926 (GRCm39) I899V probably damaging Het
Lgr5 G A 10: 115,423,193 (GRCm39) S69F probably damaging Het
Lrrc55 A T 2: 85,026,699 (GRCm39) D108E probably benign Het
Mphosph9 T C 5: 124,429,027 (GRCm39) N667S possibly damaging Het
Myf6 C T 10: 107,329,690 (GRCm39) V198M possibly damaging Het
Nav2 T C 7: 49,201,664 (GRCm39) S1413P probably damaging Het
Nfe2l1 A C 11: 96,718,451 (GRCm39) V28G probably damaging Het
Nup210 G T 6: 91,064,942 (GRCm39) T186K possibly damaging Het
Or6c1b G A 10: 129,272,941 (GRCm39) D87N probably benign Het
Or8b12 T A 9: 37,658,030 (GRCm39) I200N possibly damaging Het
Or8b4 T A 9: 37,830,080 (GRCm39) N42K probably damaging Het
Ppfia1 G A 7: 144,072,911 (GRCm39) T301M possibly damaging Het
Ppp1r14c A T 10: 3,316,890 (GRCm39) Y75F probably damaging Het
Ppp1r3g C A 13: 36,152,880 (GRCm39) A100E probably benign Het
Rictor A G 15: 6,823,493 (GRCm39) T1557A probably benign Het
Shc1 C T 3: 89,330,266 (GRCm39) R67* probably null Het
Skint10 A T 4: 112,630,301 (GRCm39) probably benign Het
Slk A G 19: 47,597,498 (GRCm39) N102S probably benign Het
Tbc1d5 T C 17: 51,332,203 (GRCm39) probably benign Het
Tiam2 G A 17: 3,568,518 (GRCm39) V1555I probably benign Het
Vmn1r174 C A 7: 23,453,851 (GRCm39) S172R probably benign Het
Vps39 A T 2: 120,151,157 (GRCm39) N823K probably benign Het
Wdr27 A T 17: 15,154,852 (GRCm39) Y22N probably damaging Het
Xrn2 A G 2: 146,878,582 (GRCm39) probably null Het
Zbp1 A T 2: 173,055,680 (GRCm39) C161* probably null Het
Zfp236 T A 18: 82,651,862 (GRCm39) E821V probably damaging Het
Other mutations in Or13a18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Or13a18 APN 7 140,190,666 (GRCm39) missense probably damaging 1.00
IGL02408:Or13a18 APN 7 140,190,844 (GRCm39) missense probably damaging 1.00
IGL02496:Or13a18 APN 7 140,190,081 (GRCm39) start codon destroyed probably benign
IGL03003:Or13a18 APN 7 140,190,283 (GRCm39) missense probably damaging 1.00
R0538:Or13a18 UTSW 7 140,190,297 (GRCm39) missense probably damaging 1.00
R1350:Or13a18 UTSW 7 140,190,622 (GRCm39) missense probably damaging 0.96
R1466:Or13a18 UTSW 7 140,190,882 (GRCm39) missense probably benign 0.01
R1466:Or13a18 UTSW 7 140,190,882 (GRCm39) missense probably benign 0.01
R2008:Or13a18 UTSW 7 140,190,498 (GRCm39) missense probably damaging 1.00
R4110:Or13a18 UTSW 7 140,190,178 (GRCm39) missense possibly damaging 0.89
R4110:Or13a18 UTSW 7 140,190,177 (GRCm39) missense probably benign 0.20
R4255:Or13a18 UTSW 7 140,190,500 (GRCm39) nonsense probably null
R4622:Or13a18 UTSW 7 140,190,611 (GRCm39) nonsense probably null
R4809:Or13a18 UTSW 7 140,190,987 (GRCm39) missense probably damaging 0.98
R4826:Or13a18 UTSW 7 140,190,232 (GRCm39) missense probably benign 0.02
R4989:Or13a18 UTSW 7 140,190,304 (GRCm39) missense possibly damaging 0.95
R5177:Or13a18 UTSW 7 140,190,102 (GRCm39) missense probably benign 0.00
R5261:Or13a18 UTSW 7 140,190,576 (GRCm39) missense probably benign 0.00
R5770:Or13a18 UTSW 7 140,190,856 (GRCm39) missense probably damaging 1.00
R5863:Or13a18 UTSW 7 140,190,544 (GRCm39) missense probably damaging 0.97
R6082:Or13a18 UTSW 7 140,190,594 (GRCm39) missense probably benign 0.00
R7216:Or13a18 UTSW 7 140,190,373 (GRCm39) missense possibly damaging 0.87
R7443:Or13a18 UTSW 7 140,190,961 (GRCm39) missense probably damaging 1.00
R7485:Or13a18 UTSW 7 140,190,091 (GRCm39) missense probably benign 0.02
R7806:Or13a18 UTSW 7 140,190,685 (GRCm39) missense probably benign 0.00
R8373:Or13a18 UTSW 7 140,190,208 (GRCm39) missense possibly damaging 0.88
R8884:Or13a18 UTSW 7 140,190,616 (GRCm39) missense probably damaging 1.00
R9278:Or13a18 UTSW 7 140,190,936 (GRCm39) missense probably damaging 1.00
R9595:Or13a18 UTSW 7 140,190,939 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GCATTACAGCTCTAGGATGAGTC -3'
(R):5'- TGTAGCTGGAACCAGGACTG -3'

Sequencing Primer
(F):5'- GGATGAGTCCACAGCTCTG -3'
(R):5'- CTGGAACCAGGACTGATATAGGCAC -3'
Posted On 2018-07-24