Incidental Mutation 'R9394:Or5w12'
ID 710723
Institutional Source Beutler Lab
Gene Symbol Or5w12
Ensembl Gene ENSMUSG00000075153
Gene Name olfactory receptor family 5 subfamily W member 12
Synonyms GA_x6K02T2Q125-49177531-49176599, MOR177-2, Olfr1135
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R9394 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 87501777-87502709 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 87502094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 206 (I206V)
Ref Sequence ENSEMBL: ENSMUSP00000150079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099853] [ENSMUST00000213835]
AlphaFold Q7TR42
Predicted Effect probably benign
Transcript: ENSMUST00000099853
AA Change: I206V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000097439
Gene: ENSMUSG00000075153
AA Change: I206V

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 3e-44 PFAM
Pfam:7tm_1 41 290 1.6e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213835
AA Change: I206V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A G 4: 86,135,225 (GRCm39) D78G Het
Adgrv1 A G 13: 81,624,767 (GRCm39) V3734A possibly damaging Het
Alpk1 T A 3: 127,466,187 (GRCm39) E1106D probably damaging Het
Apc2 A G 10: 80,145,006 (GRCm39) Y639C probably damaging Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Arfgef2 G A 2: 166,676,469 (GRCm39) V119I probably benign Het
Cacna2d1 T C 5: 16,140,013 (GRCm39) M1T probably null Het
Cfap52 A G 11: 67,815,921 (GRCm39) *621R probably null Het
Dis3l T C 9: 64,225,017 (GRCm39) I427V probably benign Het
Dscaml1 G A 9: 45,661,354 (GRCm39) V1751I possibly damaging Het
Eif3c A T 7: 126,156,550 (GRCm39) F432L probably benign Het
Iars1 A G 13: 49,883,536 (GRCm39) N1110S probably benign Het
Ifitm10 A T 7: 141,924,704 (GRCm39) V45D probably damaging Het
Igfbpl1 A T 4: 45,826,792 (GRCm39) M1K probably null Het
Igkv3-1 T A 6: 70,680,953 (GRCm39) Y51N probably benign Het
Kcnq2 A T 2: 180,724,217 (GRCm39) I600K probably benign Het
Madd G A 2: 91,000,199 (GRCm39) T569M probably benign Het
Mapk7 A T 11: 61,381,858 (GRCm39) H351Q probably damaging Het
Met A C 6: 17,513,395 (GRCm39) Y415S probably damaging Het
Mmd2 A T 5: 142,555,239 (GRCm39) V151D probably damaging Het
Nacad T C 11: 6,549,390 (GRCm39) D1267G probably damaging Het
Or10g1 A G 14: 52,647,570 (GRCm39) V253A probably damaging Het
Or2l13 A C 16: 19,306,421 (GRCm39) T278P possibly damaging Het
Or2m13 A G 16: 19,226,019 (GRCm39) V249A probably benign Het
Osbpl8 C T 10: 111,127,375 (GRCm39) R820* probably null Het
Oxsr1 C A 9: 119,151,134 (GRCm39) E3* probably null Het
Plekhg3 A G 12: 76,623,862 (GRCm39) D1035G probably damaging Het
Prune2 C T 19: 16,981,053 (GRCm39) T70I probably damaging Het
Ranbp2 T C 10: 58,291,698 (GRCm39) L235S probably damaging Het
Rasal1 A C 5: 120,816,746 (GRCm39) S761R probably benign Het
Rigi T C 4: 40,213,831 (GRCm39) N609S probably damaging Het
Rims1 T C 1: 22,511,856 (GRCm39) S566G probably damaging Het
Rnf123 T C 9: 107,942,905 (GRCm39) H611R probably damaging Het
Rpl35rt T C 1: 156,193,793 (GRCm39) V49A probably benign Het
Scn5a T A 9: 119,324,682 (GRCm39) N1382I probably damaging Het
Sgcb T C 5: 73,801,653 (GRCm39) I71V probably benign Het
Slc6a20a C A 9: 123,507,805 (GRCm39) V23L probably damaging Het
Slc7a1 A G 5: 148,270,712 (GRCm39) W585R probably damaging Het
Stk26 C T X: 49,930,618 (GRCm39) probably benign Het
Tom1l2 T C 11: 60,132,715 (GRCm39) T403A probably benign Het
Trpm1 G T 7: 63,918,480 (GRCm39) A1491S probably benign Het
Ttn A C 2: 76,707,058 (GRCm39) D9044E unknown Het
Ube3a A T 7: 58,921,960 (GRCm39) K111* probably null Het
Wee2 A G 6: 40,433,878 (GRCm39) H264R probably damaging Het
Zdhhc23 T A 16: 43,791,826 (GRCm39) I316F probably damaging Het
Zfc3h1 A G 10: 115,254,600 (GRCm39) E1398G probably damaging Het
Zfp612 C A 8: 110,810,993 (GRCm39) P57T probably damaging Het
Other mutations in Or5w12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Or5w12 APN 2 87,502,159 (GRCm39) missense probably damaging 0.99
IGL03158:Or5w12 APN 2 87,502,135 (GRCm39) missense probably benign 0.14
R0559:Or5w12 UTSW 2 87,502,244 (GRCm39) missense possibly damaging 0.54
R1288:Or5w12 UTSW 2 87,501,916 (GRCm39) missense probably benign 0.01
R2278:Or5w12 UTSW 2 87,502,289 (GRCm39) missense possibly damaging 0.63
R2304:Or5w12 UTSW 2 87,502,238 (GRCm39) missense probably benign 0.01
R4328:Or5w12 UTSW 2 87,502,008 (GRCm39) missense possibly damaging 0.52
R5094:Or5w12 UTSW 2 87,502,174 (GRCm39) missense possibly damaging 0.90
R6922:Or5w12 UTSW 2 87,501,797 (GRCm39) nonsense probably null
R7042:Or5w12 UTSW 2 87,501,935 (GRCm39) missense possibly damaging 0.90
R8824:Or5w12 UTSW 2 87,502,304 (GRCm39) missense possibly damaging 0.90
R8919:Or5w12 UTSW 2 87,502,567 (GRCm39) missense probably damaging 1.00
R9142:Or5w12 UTSW 2 87,502,313 (GRCm39) missense probably benign 0.00
R9712:Or5w12 UTSW 2 87,502,105 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TTAAGCATGGGGATCACCAGG -3'
(R):5'- TTGCTATCAACTCCTAGCTGG -3'

Sequencing Primer
(F):5'- TTGTCCTGATCCAGAGAGTAAGC -3'
(R):5'- TCCTAGCTGGAGTTTACCTAGTAG -3'
Posted On 2022-04-18