Incidental Mutation 'IGL01539:Olfr1226'
ID90090
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1226
Ensembl Gene ENSMUSG00000075097
Gene Nameolfactory receptor 1226
SynonymsGA_x6K02T2Q125-50672630-50671698, MOR233-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL01539
Quality Score
Status
Chromosome2
Chromosomal Location89188839-89200048 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89193492 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 181 (F181L)
Ref Sequence ENSEMBL: ENSMUSP00000151855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099790] [ENSMUST00000214709] [ENSMUST00000215562] [ENSMUST00000215987] [ENSMUST00000216445] [ENSMUST00000217601] [ENSMUST00000220416]
Predicted Effect possibly damaging
Transcript: ENSMUST00000099790
AA Change: F181L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097378
Gene: ENSMUSG00000075097
AA Change: F181L

DomainStartEndE-ValueType
Pfam:7tm_4 29 302 6.5e-47 PFAM
Pfam:7tm_1 39 285 3.4e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214709
AA Change: F181L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215562
AA Change: F181L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215987
AA Change: F181L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216445
AA Change: F181L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217601
AA Change: F181L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220416
AA Change: F181L

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca4b T A 3: 144,926,157 M196L probably benign Het
Cyp4a14 T C 4: 115,487,177 N497S possibly damaging Het
Eif3b T C 5: 140,430,253 probably benign Het
Gm5724 A G 6: 141,727,607 S402P possibly damaging Het
Grin2c T C 11: 115,250,106 Q1062R probably benign Het
Ina A G 19: 47,015,464 E237G probably damaging Het
Lmx1b T C 2: 33,639,498 D83G possibly damaging Het
Macf1 A G 4: 123,395,908 probably benign Het
Muc6 T A 7: 141,650,041 M406L probably benign Het
Myo15b T C 11: 115,863,473 I933T probably benign Het
Olfr773 T C 10: 129,186,935 N162S probably benign Het
Pde1b A T 15: 103,525,345 probably benign Het
Rab29 G A 1: 131,870,707 R75Q probably damaging Het
Scn10a A T 9: 119,638,698 I792N probably damaging Het
Serpinb6a A T 13: 33,930,134 V70D probably damaging Het
Spg20 A G 3: 55,117,302 D106G possibly damaging Het
Sucla2 A G 14: 73,591,121 E359G probably damaging Het
Sycp2 T C 2: 178,374,695 Y658C probably damaging Het
Tenm2 T A 11: 36,106,827 T811S possibly damaging Het
Trim66 C A 7: 109,455,066 M1312I probably benign Het
Tspan18 A G 2: 93,210,853 S135P probably damaging Het
Ube2j1 T C 4: 33,043,993 probably benign Het
Ubr1 A C 2: 120,926,013 V711G possibly damaging Het
Veph1 T C 3: 66,158,075 T524A probably benign Het
Vmn1r222 A T 13: 23,232,889 F51L probably benign Het
Vwf G T 6: 125,590,262 V338L possibly damaging Het
Zfp770 G T 2: 114,197,093 A165E probably damaging Het
Other mutations in Olfr1226
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Olfr1226 APN 2 89193504 missense probably benign 0.00
IGL01073:Olfr1226 APN 2 89193137 missense possibly damaging 0.78
IGL01549:Olfr1226 APN 2 89193789 missense probably benign 0.01
IGL02040:Olfr1226 APN 2 89193563 missense probably benign 0.16
IGL02174:Olfr1226 APN 2 89193368 missense probably benign 0.01
IGL02322:Olfr1226 APN 2 89193462 missense probably damaging 0.99
IGL02881:Olfr1226 APN 2 89193641 missense probably damaging 1.00
IGL03336:Olfr1226 APN 2 89193897 missense probably benign 0.16
R1565:Olfr1226 UTSW 2 89193883 missense probably damaging 0.99
R3429:Olfr1226 UTSW 2 89193273 missense probably benign 0.04
R5668:Olfr1226 UTSW 2 89193826 missense possibly damaging 0.60
R6404:Olfr1226 UTSW 2 89193562 missense probably damaging 1.00
R6418:Olfr1226 UTSW 2 89193479 missense probably damaging 0.97
R7039:Olfr1226 UTSW 2 89193446 missense probably damaging 0.96
R7863:Olfr1226 UTSW 2 89193951 missense probably benign
R8097:Olfr1226 UTSW 2 89193632 missense probably damaging 1.00
R8544:Olfr1226 UTSW 2 89193968 missense possibly damaging 0.68
R8792:Olfr1226 UTSW 2 89193887 missense probably benign 0.00
Posted On2013-12-03