Incidental Mutation 'IGL02388:Olfr1251'
ID291611
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1251
Ensembl Gene ENSMUSG00000111567
Gene Nameolfactory receptor 1251
SynonymsMOR231-15P, MOR231-24_p, GA_x6K02T2Q125-51109312-51108356
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.388) question?
Stock #IGL02388
Quality Score
Status
Chromosome2
Chromosomal Location89665870-89671936 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89666972 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 305 (S305G)
Ref Sequence ENSEMBL: ENSMUSP00000150028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214304] [ENSMUST00000214639] [ENSMUST00000214750]
Predicted Effect probably benign
Transcript: ENSMUST00000188085
AA Change: S305G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000140591
Gene: ENSMUSG00000100323
AA Change: S305G

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 1.4e-29 PFAM
Pfam:7tm_4 137 278 2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214304
AA Change: S305G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000214639
AA Change: S305G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000214750
AA Change: S305G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930597O21Rik A T 6: 66,896,113 probably benign Het
9230019H11Rik A T 10: 3,125,050 noncoding transcript Het
Abca8a A G 11: 110,078,815 probably benign Het
Asphd1 A T 7: 126,946,712 probably benign Het
Ccdc77 G A 6: 120,331,897 A301V probably benign Het
Cep350 G T 1: 155,953,753 T135K probably benign Het
Chrna7 A T 7: 63,107,691 D153E probably damaging Het
Clec4b2 G T 6: 123,202,228 probably null Het
Cyp2c67 T C 19: 39,643,355 N133D probably benign Het
Dglucy T C 12: 100,856,998 I484T probably damaging Het
Dtna G T 18: 23,597,514 M319I probably benign Het
E2f5 T A 3: 14,588,280 M152K probably benign Het
Emsy A T 7: 98,641,666 M58K probably damaging Het
Epha1 A G 6: 42,365,016 Y367H probably damaging Het
Etv1 A G 12: 38,781,799 S32G possibly damaging Het
Fam114a1 A T 5: 65,008,980 probably benign Het
Fbxo30 T A 10: 11,290,378 N281K probably benign Het
Galnt12 G T 4: 47,117,941 R412L probably damaging Het
Gm5786 T A 12: 59,081,596 noncoding transcript Het
Gm9845 T C 3: 39,358,467 noncoding transcript Het
Hecw2 A G 1: 53,925,699 V656A probably benign Het
Hpse2 A T 19: 43,294,253 V187D probably damaging Het
Itsn2 T A 12: 4,629,557 M122K possibly damaging Het
Kcnj11 A G 7: 46,099,789 S37P probably benign Het
Kif13b T C 14: 64,800,358 I1491T probably damaging Het
Krt36 T A 11: 100,105,164 K145* probably null Het
Loxhd1 A G 18: 77,369,137 I499V probably benign Het
Map3k4 G T 17: 12,271,610 N311K probably damaging Het
Mical2 C A 7: 112,335,413 H880N probably benign Het
Myo1d A T 11: 80,637,997 C666* probably null Het
Nlrx1 C T 9: 44,264,005 R158H probably benign Het
Olfr1115 T A 2: 87,251,951 Y5N probably benign Het
Olfr1494 C A 19: 13,749,630 H175N possibly damaging Het
Olfr380 A T 11: 73,453,280 L311I probably benign Het
Olfr45 A G 7: 140,691,111 T69A probably benign Het
Pdgfrl A G 8: 40,977,057 R154G probably benign Het
Pitpnb T C 5: 111,330,833 F7S possibly damaging Het
Ppm1n G A 7: 19,279,172 R285C probably damaging Het
Prdm11 A T 2: 92,975,612 I331N possibly damaging Het
Ptprb C T 10: 116,367,521 P2066L probably damaging Het
Ric8b T C 10: 84,992,271 probably benign Het
Setx A G 2: 29,173,653 I2320M probably damaging Het
Skil C A 3: 31,111,638 S368* probably null Het
Slc1a5 G T 7: 16,785,719 probably null Het
Trpm7 A C 2: 126,819,891 V1079G possibly damaging Het
Tulp1 A G 17: 28,358,659 F2L probably damaging Het
Zbtb17 A G 4: 141,461,913 Y48C probably damaging Het
Zfp605 T A 5: 110,127,640 I208N possibly damaging Het
Other mutations in Olfr1251
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01817:Olfr1251 APN 2 89667004 missense probably benign 0.00
IGL01941:Olfr1251 APN 2 89667468 nonsense probably null 0.00
IGL01988:Olfr1251 APN 2 89667080 missense probably benign 0.07
IGL03169:Olfr1251 APN 2 89667487 missense possibly damaging 0.86
R0008:Olfr1251 UTSW 2 89667084 missense probably damaging 1.00
R0042:Olfr1251 UTSW 2 89667454 missense probably benign 0.01
R0834:Olfr1251 UTSW 2 89667079 missense probably benign 0.24
R1102:Olfr1251 UTSW 2 89667470 missense probably damaging 0.98
R2213:Olfr1251 UTSW 2 89667547 missense probably damaging 1.00
R2219:Olfr1251 UTSW 2 89667867 missense possibly damaging 0.73
R3023:Olfr1251 UTSW 2 89667646 missense possibly damaging 0.86
R3105:Olfr1251 UTSW 2 89666958 missense probably benign 0.01
R3433:Olfr1251 UTSW 2 89667233 missense probably benign 0.01
R3508:Olfr1251 UTSW 2 89667472 missense probably benign 0.14
R3758:Olfr1251 UTSW 2 89667572 missense probably benign 0.14
R3909:Olfr1251 UTSW 2 89667013 missense probably damaging 0.98
R4049:Olfr1251 UTSW 2 89667662 missense probably benign 0.03
R4457:Olfr1251 UTSW 2 89667083 missense probably benign 0.24
R5613:Olfr1251 UTSW 2 89667044 missense probably damaging 1.00
R5748:Olfr1251 UTSW 2 89667802 missense possibly damaging 0.67
R6226:Olfr1251 UTSW 2 89666989 missense probably damaging 1.00
R6950:Olfr1251 UTSW 2 89667551 missense probably benign 0.07
Posted On2015-04-16