Incidental Mutation 'R5748:Olfr1251'
ID445853
Institutional Source Beutler Lab
Gene Symbol Olfr1251
Ensembl Gene ENSMUSG00000111567
Gene Nameolfactory receptor 1251
SynonymsMOR231-15P, MOR231-24_p, GA_x6K02T2Q125-51109312-51108356
MMRRC Submission 043355-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.297) question?
Stock #R5748 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location89665870-89671936 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 89667802 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 28 (M28K)
Ref Sequence ENSEMBL: ENSMUSP00000150028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214304] [ENSMUST00000214639] [ENSMUST00000214750]
Predicted Effect possibly damaging
Transcript: ENSMUST00000188085
AA Change: M28K

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140591
Gene: ENSMUSG00000100323
AA Change: M28K

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 1.4e-29 PFAM
Pfam:7tm_4 137 278 2e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214304
AA Change: M28K

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214639
AA Change: M28K

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214750
AA Change: M28K

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 98% (58/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 79,089,699 Q285R probably damaging Het
Acy1 T A 9: 106,436,727 N78I probably damaging Het
Anln T C 9: 22,337,934 K166E probably damaging Het
C1qtnf4 A G 2: 90,889,533 D50G probably damaging Het
Cntnap2 A G 6: 45,715,884 T100A probably damaging Het
Cxcr6 C T 9: 123,810,341 R143C probably damaging Het
Dhx16 T C 17: 35,883,314 L439P probably damaging Het
Dlk1 T C 12: 109,459,972 V257A probably benign Het
Ebpl A T 14: 61,360,344 L16Q probably null Het
Eml5 T A 12: 98,825,555 Y1234F probably damaging Het
Fam129b A T 2: 32,919,569 K260M probably damaging Het
Gm10549 C A 18: 33,464,305 probably benign Het
Gria1 A G 11: 57,309,876 D793G probably benign Het
Gtse1 T C 15: 85,867,577 Y324H probably benign Het
Hcn1 A T 13: 117,976,055 S852C probably damaging Het
Invs A G 4: 48,307,823 T83A probably damaging Het
Iqgap3 T C 3: 88,109,370 L155P probably damaging Het
Lgr6 C T 1: 134,994,010 A199T probably damaging Het
Lrrc14b T A 13: 74,363,640 D107V probably damaging Het
Mcm9 A T 10: 53,625,729 H253Q probably damaging Het
Mcmdc2 A G 1: 9,911,807 Y30C probably damaging Het
Mdga1 C T 17: 29,850,551 D174N probably benign Het
Med13l G A 5: 118,593,445 R62H probably damaging Het
Mrgpra2b A G 7: 47,502,532 probably benign Het
Nacad T A 11: 6,598,370 K1426* probably null Het
Ndufb6 A G 4: 40,279,234 L35S probably damaging Het
Nkapl A G 13: 21,467,609 I278T probably benign Het
Nrbp2 T C 15: 76,089,483 E263G probably damaging Het
Nup85 T A 11: 115,580,512 L110Q probably damaging Het
Olfr1415 T A 1: 92,491,093 I221F probably damaging Het
Olfr1448 T A 19: 12,920,015 Q98L probably damaging Het
Olfr293 A G 7: 86,664,085 N141S possibly damaging Het
Olfr395 A G 11: 73,906,895 I199T probably damaging Het
Olfr720 T C 14: 14,175,314 Y256C probably damaging Het
Polr2m C T 9: 71,483,636 D95N probably benign Het
Popdc2 A T 16: 38,374,303 D362V probably damaging Het
Pot1a A T 6: 25,758,856 I308N possibly damaging Het
Rsf1 GCGGCGGC GCGGCGGCGTCGGCGGC 7: 97,579,928 probably benign Het
Rufy4 T C 1: 74,147,663 C537R probably damaging Het
Rundc3a G A 11: 102,399,399 E189K possibly damaging Het
Scaf1 A C 7: 45,012,806 probably null Het
Scaper T C 9: 55,859,076 probably null Het
Sh3glb1 C T 3: 144,712,649 C51Y probably damaging Het
Slc10a5 T C 3: 10,335,331 T90A probably benign Het
Slc17a3 T A 13: 23,856,466 S336T probably damaging Het
Slc41a2 C A 10: 83,297,159 C341F probably benign Het
Spata31 A G 13: 64,920,313 *67W probably null Het
Stap2 C T 17: 56,000,475 probably null Het
Stt3a A T 9: 36,752,400 M182K probably benign Het
Tcfl5 G A 2: 180,642,257 silent Het
Tmx3 T C 18: 90,537,101 V314A probably benign Het
Upf1 A G 8: 70,338,517 L525P probably damaging Het
Wdr6 T C 9: 108,575,782 I301V possibly damaging Het
Ylpm1 T A 12: 85,060,251 probably null Het
Zfp273 T C 13: 67,825,331 Y160H probably 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
IGL02388:Olfr1251 APN 2 89666972 missense probably benign 0.00
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
R6226:Olfr1251 UTSW 2 89666989 missense probably damaging 1.00
R6950:Olfr1251 UTSW 2 89667551 missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- TCACGGAGCAAGTCTACAATC -3'
(R):5'- AGTGAAGCTTGTTACAAGATGAAGC -3'

Sequencing Primer
(F):5'- TCTACAATCAACTTGGGTGAGATGGC -3'
(R):5'- ATGCTCAATGACAGAATGGACTC -3'
Posted On2016-11-21