Incidental Mutation 'IGL01547:Olfr301'
ID90353
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr301
Ensembl Gene ENSMUSG00000061549
Gene Nameolfactory receptor 301
SynonymsOlfr1531-ps1, MOR211-8P, GA_x6K02T2NHDJ-9693313-9692378, MOR221-1P, MOR221-1P, MOR221-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL01547
Quality Score
Status
Chromosome7
Chromosomal Location86403846-86414024 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 86412871 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 170 (N170D)
Ref Sequence ENSEMBL: ENSMUSP00000133780 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000174362]
Predicted Effect possibly damaging
Transcript: ENSMUST00000073222
AA Change: N211D

PolyPhen 2 Score 0.720 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000072955
Gene: ENSMUSG00000061549
AA Change: N211D

DomainStartEndE-ValueType
Pfam:7tm_4 70 348 4.7e-46 PFAM
Pfam:7tm_1 80 330 1.5e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000174362
AA Change: N170D

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133780
Gene: ENSMUSG00000061549
AA Change: N170D

DomainStartEndE-ValueType
low complexity region 21 38 N/A INTRINSIC
Pfam:7tm_1 39 289 2e-28 PFAM
Pfam:7tm_4 137 282 1.1e-40 PFAM
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik G A 4: 137,455,262 G243R possibly damaging Het
Afg3l1 T C 8: 123,501,351 V625A probably benign Het
Arhgap39 T C 15: 76,737,815 probably benign Het
Bag1 A G 4: 40,936,661 C332R probably damaging Het
Bcas2 T C 3: 103,171,999 Y49H probably damaging Het
Cacna1b C A 2: 24,632,035 probably benign Het
Cdyl A G 13: 35,790,162 D53G possibly damaging Het
Csmd3 T C 15: 47,883,617 I1322V probably benign Het
Evc2 C A 5: 37,393,087 A815E probably benign Het
Gm6309 C T 5: 146,168,411 D231N probably benign Het
Mtfr2 C T 10: 20,357,599 P305S probably damaging Het
Olfr639 A T 7: 104,012,660 I14N probably benign Het
Olfr77 A T 9: 19,920,901 I231F probably benign Het
Pcdhb1 A G 18: 37,267,342 H782R probably benign Het
Polr2a A G 11: 69,744,942 S480P probably damaging Het
Scaf11 T C 15: 96,418,429 T1085A probably benign Het
Sema6c C T 3: 95,172,398 R668C probably damaging Het
Tas2r123 C T 6: 132,847,458 T106I probably damaging Het
Tgm5 A G 2: 121,049,202 probably benign Het
Vmn2r23 T A 6: 123,704,424 I97N possibly damaging Het
Vmn2r6 T A 3: 64,538,104 K644N probably damaging Het
Zfp608 A G 18: 54,894,449 probably null Het
Other mutations in Olfr301
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01015:Olfr301 APN 7 86412790 missense probably damaging 1.00
IGL01459:Olfr301 APN 7 86412551 missense probably damaging 1.00
IGL01538:Olfr301 APN 7 86412959 missense possibly damaging 0.80
R0918:Olfr301 UTSW 7 86413195 missense probably benign 0.01
R1559:Olfr301 UTSW 7 86412367 missense probably benign 0.00
R1651:Olfr301 UTSW 7 86407870 utr 5 prime probably benign
R2411:Olfr301 UTSW 7 86413082 missense possibly damaging 0.51
R3732:Olfr301 UTSW 7 86412633 missense probably damaging 0.98
R3832:Olfr301 UTSW 7 86413193 missense probably damaging 1.00
R5175:Olfr301 UTSW 7 86413046 missense probably benign 0.00
R5372:Olfr301 UTSW 7 86412968 missense possibly damaging 0.66
R5413:Olfr301 UTSW 7 86412467 missense probably benign
R5520:Olfr301 UTSW 7 86412856 missense probably benign 0.02
R5579:Olfr301 UTSW 7 86412726 nonsense probably null
R6037:Olfr301 UTSW 7 86413270 missense probably benign 0.02
R6037:Olfr301 UTSW 7 86413270 missense probably benign 0.02
R7251:Olfr301 UTSW 7 86413001 missense probably benign
R7340:Olfr301 UTSW 7 86412749 missense possibly damaging 0.92
R7860:Olfr301 UTSW 7 86407911 start gained probably benign
R8305:Olfr301 UTSW 7 86412779 missense probably damaging 1.00
R8338:Olfr301 UTSW 7 86412494 missense probably benign 0.14
R8487:Olfr301 UTSW 7 86412439 missense probably benign 0.34
Z1176:Olfr301 UTSW 7 86412698 missense probably benign 0.16
Posted On2013-12-03