Incidental Mutation 'IGL02822:Olfr1254'
ID361049
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1254
Ensembl Gene ENSMUSG00000075074
Gene Nameolfactory receptor 1254
SynonymsGA_x6K02T2Q125-51230155-51229211, MOR231-13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.106) question?
Stock #IGL02822
Quality Score
Status
Chromosome2
Chromosomal Location89787325-89793619 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89789100 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 84 (L84P)
Ref Sequence ENSEMBL: ENSMUSP00000149507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099764] [ENSMUST00000111523] [ENSMUST00000216587]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099764
AA Change: L84P

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097352
Gene: ENSMUSG00000075074
AA Change: L84P

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 9.7e-30 PFAM
Pfam:7tm_4 137 278 1.3e-39 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111523
AA Change: L84P

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107148
Gene: ENSMUSG00000075074
AA Change: L84P

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.4e-46 PFAM
Pfam:7tm_1 39 285 5.6e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216587
AA Change: L84P

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T C 16: 89,174,795 C2R unknown Het
4931428F04Rik T C 8: 105,284,698 Y268C probably damaging Het
Aldh1a7 A G 19: 20,702,266 V382A possibly damaging Het
Asap2 T C 12: 21,265,910 V943A probably damaging Het
Bod1l C T 5: 41,794,345 V2908M possibly damaging Het
Casd1 C T 6: 4,630,017 T471I probably damaging Het
Col20a1 T C 2: 180,996,807 Y405H probably damaging Het
Evi5l T C 8: 4,187,248 I117T probably damaging Het
Fbxw5 A G 2: 25,503,010 N164S probably benign Het
Fga A G 3: 83,031,482 E388G probably damaging Het
Fgfr1 A G 8: 25,557,802 T55A probably benign Het
Gdpd4 T C 7: 97,971,924 V148A possibly damaging Het
Gm15448 T A 7: 3,816,918 T549S possibly damaging Het
Gm609 T C 16: 45,442,605 Y57C probably damaging Het
Gsap T A 5: 21,217,444 V137D probably damaging Het
Hsdl2 A G 4: 59,601,379 H117R possibly damaging Het
Htr4 T A 18: 62,428,184 probably benign Het
Ifitm1 T C 7: 140,968,278 V8A possibly damaging Het
Ikbkap A G 4: 56,774,520 probably null Het
Kdelr1 A G 7: 45,873,864 probably benign Het
Klra6 G T 6: 130,016,710 Y199* probably null Het
Mmp21 C T 7: 133,676,099 D333N possibly damaging Het
Mocs1 T C 17: 49,439,569 F189S probably damaging Het
Myo18b C T 5: 112,775,345 A1849T probably damaging Het
Naca C A 10: 128,039,345 probably benign Het
Nbea A T 3: 56,019,447 H778Q possibly damaging Het
Nlrp4c C T 7: 6,065,727 P209L probably damaging Het
Olfr125 T C 17: 37,835,643 Y215H possibly damaging Het
Olfr1491 A G 19: 13,705,655 D276G probably benign Het
Osbpl9 A G 4: 109,072,921 S258P probably damaging Het
Pclaf A G 9: 65,901,593 E108G possibly damaging Het
Pla2r1 C A 2: 60,455,173 C699F probably damaging Het
Pnkp A G 7: 44,862,424 Y120C probably damaging Het
Psme4 T A 11: 30,848,204 probably benign Het
Rad54l2 A G 9: 106,710,407 S720P probably damaging Het
Rasa1 T C 13: 85,252,514 H301R probably damaging Het
Spg11 C A 2: 122,074,534 W1316L probably damaging Het
Ube2t C T 1: 134,973,950 probably benign Het
Vmn2r94 T A 17: 18,243,620 I803F probably benign Het
Other mutations in Olfr1254
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Olfr1254 APN 2 89788785 missense probably damaging 1.00
R1166:Olfr1254 UTSW 2 89789331 missense possibly damaging 0.74
R1639:Olfr1254 UTSW 2 89789245 missense probably damaging 1.00
R2248:Olfr1254 UTSW 2 89789180 missense possibly damaging 0.59
R2256:Olfr1254 UTSW 2 89788470 missense probably benign
R2351:Olfr1254 UTSW 2 89789178 missense probably damaging 0.97
R4432:Olfr1254 UTSW 2 89788734 missense possibly damaging 0.76
R4649:Olfr1254 UTSW 2 89789293 missense probably benign 0.19
R4788:Olfr1254 UTSW 2 89789136 missense probably damaging 1.00
R6454:Olfr1254 UTSW 2 89789178 missense probably damaging 0.97
R6591:Olfr1254 UTSW 2 89788988 nonsense probably null
R6691:Olfr1254 UTSW 2 89788988 nonsense probably null
R7418:Olfr1254 UTSW 2 89788976 nonsense probably null
R7451:Olfr1254 UTSW 2 89789109 missense probably benign
R8024:Olfr1254 UTSW 2 89789046 missense probably benign 0.07
R8080:Olfr1254 UTSW 2 89788627 missense possibly damaging 0.78
R8251:Olfr1254 UTSW 2 89789223 missense probably damaging 1.00
R8318:Olfr1254 UTSW 2 89788977 missense possibly damaging 0.60
X0022:Olfr1254 UTSW 2 89788731 missense probably benign 0.02
Posted On2015-12-18