Incidental Mutation 'IGL01480:Olfr975'
ID88582
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr975
Ensembl Gene ENSMUSG00000043331
Gene Nameolfactory receptor 975
SynonymsMOR224-2, GA_x6K02T2PVTD-33651220-33650288
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL01480
Quality Score
Status
Chromosome9
Chromosomal Location39948131-39952046 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 39949988 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 261 (A261V)
Ref Sequence ENSEMBL: ENSMUSP00000150664 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054067] [ENSMUST00000169307] [ENSMUST00000213171] [ENSMUST00000213246] [ENSMUST00000216647] [ENSMUST00000217630]
Predicted Effect probably benign
Transcript: ENSMUST00000054067
AA Change: A261V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000059776
Gene: ENSMUSG00000043331
AA Change: A261V

DomainStartEndE-ValueType
Pfam:7tm_4 29 304 1.9e-51 PFAM
Pfam:7TM_GPCR_Srsx 33 249 1.8e-7 PFAM
Pfam:7tm_1 39 286 3.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169307
SMART Domains Protein: ENSMUSP00000133083
Gene: ENSMUSG00000047352

DomainStartEndE-ValueType
Pfam:7tm_4 43 318 1.5e-48 PFAM
Pfam:7TM_GPCR_Srsx 47 271 1.1e-5 PFAM
Pfam:7tm_1 53 300 2.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213171
Predicted Effect probably benign
Transcript: ENSMUST00000213246
Predicted Effect probably benign
Transcript: ENSMUST00000216647
AA Change: A261V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000217630
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck1 T A 12: 88,456,865 C379* probably null Het
Ankrd10 A G 8: 11,635,592 V9A probably benign Het
Ankrd13a A T 5: 114,800,818 probably benign Het
Bbs1 T C 19: 4,894,393 K403E probably damaging Het
Cd200r2 A G 16: 44,909,266 I95V probably null Het
Cyba T C 8: 122,424,945 E171G probably benign Het
Dnah2 T A 11: 69,458,371 M2480L possibly damaging Het
Fxyd7 A T 7: 31,047,374 Y20* probably null Het
Il22ra1 T C 4: 135,744,801 V216A probably benign Het
Mapk10 G A 5: 102,926,152 probably benign Het
Mgat5b C A 11: 116,978,452 T607K probably benign Het
Nov A G 15: 54,752,291 Y284C probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr406 A T 11: 74,269,601 I71L possibly damaging Het
Olfr8 T C 10: 78,956,144 probably benign Het
Optn G A 2: 5,046,018 S184L probably benign Het
Plxna1 A G 6: 89,344,096 L462P possibly damaging Het
Prkca C T 11: 108,192,201 V73M probably damaging Het
Prkca A G 11: 107,986,289 F339L possibly damaging Het
Ptch2 T C 4: 117,114,082 V1062A probably damaging Het
Serpina11 T A 12: 103,982,851 K354* probably null Het
Sf1 T C 19: 6,372,022 probably benign Het
Stam2 A G 2: 52,716,439 S112P probably benign Het
Tlr5 G A 1: 182,973,499 E123K probably benign Het
Tpp1 T C 7: 105,749,053 E301G probably damaging Het
Vmn2r58 T A 7: 41,864,692 I176F probably benign Het
Other mutations in Olfr975
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01537:Olfr975 APN 9 39950625 missense probably benign 0.00
IGL01963:Olfr975 APN 9 39950240 missense probably damaging 1.00
IGL02400:Olfr975 APN 9 39950339 missense probably benign
IGL03115:Olfr975 APN 9 39950744 missense probably damaging 0.98
IGL03226:Olfr975 APN 9 39950423 unclassified probably null
R0088:Olfr975 UTSW 9 39950375 missense probably benign 0.03
R0212:Olfr975 UTSW 9 39949940 missense probably benign 0.44
R1668:Olfr975 UTSW 9 39950169 missense possibly damaging 0.94
R1878:Olfr975 UTSW 9 39950757 missense probably benign 0.35
R2225:Olfr975 UTSW 9 39950537 missense possibly damaging 0.84
R2291:Olfr975 UTSW 9 39950334 missense probably benign 0.19
R2420:Olfr975 UTSW 9 39950528 missense possibly damaging 0.47
R2421:Olfr975 UTSW 9 39950528 missense possibly damaging 0.47
R2422:Olfr975 UTSW 9 39950528 missense possibly damaging 0.47
R2425:Olfr975 UTSW 9 39949841 missense probably null 0.25
R2918:Olfr975 UTSW 9 39950364 missense probably benign
R4536:Olfr975 UTSW 9 39950435 missense probably damaging 1.00
R4709:Olfr975 UTSW 9 39949869 missense probably damaging 0.97
R4831:Olfr975 UTSW 9 39950112 missense probably benign 0.01
R4921:Olfr975 UTSW 9 39950225 missense probably damaging 0.98
R5113:Olfr975 UTSW 9 39949925 missense probably damaging 0.99
R5141:Olfr975 UTSW 9 39949874 missense probably benign 0.07
R5195:Olfr975 UTSW 9 39950679 missense probably benign
R5213:Olfr975 UTSW 9 39950093 missense probably damaging 0.99
R5568:Olfr975 UTSW 9 39950687 missense probably benign 0.05
R6993:Olfr975 UTSW 9 39950637 missense probably benign
R7080:Olfr975 UTSW 9 39950148 missense probably damaging 1.00
R7436:Olfr975 UTSW 9 39950053 nonsense probably null
Posted On2013-11-18