Incidental Mutation 'IGL02718:Olfr979'
ID304857
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr979
Ensembl Gene ENSMUSG00000059473
Gene Nameolfactory receptor 979
SynonymsMOR223-1, GA_x6K02T2PVTD-33699706-33698771
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL02718
Quality Score
Status
Chromosome9
Chromosomal Location39998003-40003465 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 40000886 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 114 (Y114N)
Ref Sequence ENSEMBL: ENSMUSP00000148903 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080835] [ENSMUST00000215523] [ENSMUST00000216463]
Predicted Effect probably damaging
Transcript: ENSMUST00000080835
AA Change: Y114N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079648
Gene: ENSMUSG00000059473
AA Change: Y114N

DomainStartEndE-ValueType
Pfam:7tm_4 29 304 7.9e-58 PFAM
Pfam:7tm_1 39 287 5.2e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215523
AA Change: Y114N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000216463
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik A G 7: 30,699,904 D41G probably damaging Het
2210408I21Rik T A 13: 77,174,872 Y7N probably damaging Het
4921507P07Rik G T 6: 50,584,387 T184K probably damaging Het
Atf1 C A 15: 100,254,219 Q151K probably damaging Het
Brdt T C 5: 107,350,068 probably benign Het
Cep295 T C 9: 15,325,753 probably null Het
Ctnnd2 A G 15: 31,027,616 S1229G probably damaging Het
Dcaf15 T A 8: 84,098,376 I476L possibly damaging Het
Dlec1 A G 9: 119,137,286 I1108V probably benign Het
Dnah9 T A 11: 65,886,640 H3694L probably damaging Het
Dock10 A T 1: 80,523,818 D1838E probably benign Het
Dusp12 A T 1: 170,880,657 Y164N probably damaging Het
Ephx1 A G 1: 180,999,786 F101L probably damaging Het
Fbn1 C A 2: 125,369,886 C864F probably damaging Het
Fbxw24 T C 9: 109,624,790 E96G possibly damaging Het
Glt1d1 C A 5: 127,650,699 F78L probably damaging Het
Gm9602 A T 14: 4,776,474 R21* probably null Het
Grip1 T A 10: 120,075,515 *713K probably null Het
Hecw1 T C 13: 14,306,935 probably null Het
Il31ra G A 13: 112,530,369 R392* probably null Het
L3hypdh T G 12: 72,084,856 S101R probably damaging Het
Lpar5 T A 6: 125,082,244 D309E probably damaging Het
Masp1 T C 16: 23,476,293 Y406C probably damaging Het
Mpdz T C 4: 81,385,202 I166M probably damaging Het
Nbea A T 3: 55,632,062 Y2759* probably null Het
Ncf1 A T 5: 134,227,448 probably null Het
Nek5 T G 8: 22,097,463 R314S probably benign Het
Nifk A C 1: 118,327,632 N38T probably damaging Het
Obscn C T 11: 59,077,858 V2772M probably damaging Het
Olfr1367 T C 13: 21,347,384 L152P probably damaging Het
Olfr181 T C 16: 58,926,096 I158M possibly damaging Het
Olfr419 G T 1: 174,250,707 Y73* probably null Het
Olfr584 C A 7: 103,085,583 L22I probably benign Het
Olfr707 A T 7: 106,891,329 M260K probably damaging Het
Pbxip1 A G 3: 89,448,004 E610G probably damaging Het
Pfas G T 11: 69,000,145 probably benign Het
Plk4 T C 3: 40,815,021 S102P probably damaging Het
Ptprz1 C T 6: 23,001,349 T1146I possibly damaging Het
Pum2 T A 12: 8,733,344 S598T probably benign Het
Ric1 T A 19: 29,533,240 W74R probably damaging Het
Riok3 C A 18: 12,152,996 S427* probably null Het
Ros1 A T 10: 52,118,232 D1317E probably damaging Het
Sfmbt2 A G 2: 10,402,031 D47G possibly damaging Het
Slc12a1 C T 2: 125,161,079 R177* probably null Het
Snai3 C A 8: 122,456,122 probably null Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Soat1 A T 1: 156,441,429 S151T probably benign Het
Stbd1 A G 5: 92,603,218 E37G possibly damaging Het
Syt10 A G 15: 89,814,079 I354T probably damaging Het
Trip11 A C 12: 101,886,025 S593R probably benign Het
Ubr1 T C 2: 120,914,883 E908G probably damaging Het
Yy1 T C 12: 108,815,479 F357L probably damaging Het
Other mutations in Olfr979
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02939:Olfr979 APN 9 40000898 missense probably benign 0.26
IGL02991:Olfr979 UTSW 9 40000402 missense probably damaging 1.00
R1388:Olfr979 UTSW 9 40000652 missense probably damaging 0.99
R1572:Olfr979 UTSW 9 40001194 missense probably benign 0.35
R2089:Olfr979 UTSW 9 40001204 missense probably benign 0.01
R2091:Olfr979 UTSW 9 40001204 missense probably benign 0.01
R2091:Olfr979 UTSW 9 40001204 missense probably benign 0.01
R2179:Olfr979 UTSW 9 40000924 missense probably benign 0.44
R3424:Olfr979 UTSW 9 40000534 missense probably damaging 0.97
R3964:Olfr979 UTSW 9 40000471 missense possibly damaging 0.95
R3965:Olfr979 UTSW 9 40000471 missense possibly damaging 0.95
R4111:Olfr979 UTSW 9 40000898 nonsense probably null
R4537:Olfr979 UTSW 9 40000320 missense probably benign 0.01
R4737:Olfr979 UTSW 9 40000422 missense probably damaging 0.96
R4926:Olfr979 UTSW 9 40001023 unclassified probably null
R5303:Olfr979 UTSW 9 40000588 missense probably damaging 1.00
R5587:Olfr979 UTSW 9 40000621 missense possibly damaging 0.90
R6387:Olfr979 UTSW 9 40000852 missense probably damaging 0.99
R6394:Olfr979 UTSW 9 40000705 missense probably benign 0.04
R6765:Olfr979 UTSW 9 40001197 missense probably damaging 1.00
R7312:Olfr979 UTSW 9 40000810 missense probably benign 0.22
Posted On2015-04-16