Incidental Mutation 'IGL02090:Olfr792'
ID279394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr792
Ensembl Gene ENSMUSG00000094496
Gene Nameolfactory receptor 792
SynonymsGA_x6K02T2PULF-11219415-11220350, MOR108-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #IGL02090
Quality Score
Status
Chromosome10
Chromosomal Location129539162-129542534 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 129541307 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 257 (Y257H)
Ref Sequence ENSEMBL: ENSMUSP00000149872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076575] [ENSMUST00000215436]
Predicted Effect probably damaging
Transcript: ENSMUST00000076575
AA Change: Y257H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096707
Gene: ENSMUSG00000094496
AA Change: Y257H

DomainStartEndE-ValueType
Pfam:7tm_4 28 306 1.9e-53 PFAM
Pfam:7tm_1 39 288 4.7e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215436
AA Change: Y257H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace2 A G X: 164,185,705 T482A probably damaging Het
Adh1 T C 3: 138,282,785 I173T possibly damaging Het
Apoa1 T C 9: 46,229,250 S60P possibly damaging Het
Blnk A G 19: 40,934,485 V396A probably benign Het
Borcs8 A G 8: 70,166,380 D204G probably damaging Het
Cbfa2t2 A G 2: 154,531,416 probably benign Het
Cdkal1 T G 13: 29,517,510 I319L probably benign Het
Celsr1 T A 15: 85,907,721 T2560S possibly damaging Het
Chd8 A G 14: 52,227,234 probably null Het
Cyp4f39 T C 17: 32,470,958 probably benign Het
Dnah10 A G 5: 124,789,812 N2265S probably damaging Het
Dnah5 C T 15: 28,240,041 probably benign Het
Epgn G A 5: 91,033,957 G133E probably damaging Het
Fam26e G A 10: 34,096,265 P58L probably damaging Het
Fdx1l C A 9: 21,073,470 V13F probably benign Het
Gabarapl2 A G 8: 111,941,199 Y25C probably damaging Het
Gigyf1 G A 5: 137,525,564 probably null Het
Gm6040 G A 8: 20,917,153 probably benign Het
Gm8229 T C 14: 44,366,597 L81P unknown Het
Gstz1 A G 12: 87,163,754 E137G probably benign Het
Htra1 T C 7: 130,936,378 V36A probably benign Het
Ifnlr1 T C 4: 135,705,267 V338A probably benign Het
Igsf8 A G 1: 172,312,589 probably benign Het
Khdc1a T A 1: 21,350,988 F132L probably benign Het
Kifc3 G A 8: 95,102,480 S561L probably damaging Het
Mpi T C 9: 57,550,653 T89A probably benign Het
Ncor2 A T 5: 125,034,403 M1281K probably damaging Het
Olfr1222 T C 2: 89,125,677 N18S probably benign Het
Olfr1299 G T 2: 111,664,988 C254F probably damaging Het
Olfr806 T A 10: 129,738,312 I202L probably benign Het
Otog G A 7: 46,300,147 G2403D probably damaging Het
Pdgfb C A 15: 80,013,983 A6S probably benign Het
Pfkm T C 15: 98,123,240 probably null Het
Plcb4 A G 2: 135,947,121 M274V probably benign Het
Ppm1m A G 9: 106,196,802 probably null Het
Rptn A G 3: 93,396,734 D458G possibly damaging Het
Sertad3 C T 7: 27,476,525 S128F probably benign Het
Sgo2b A T 8: 63,927,089 L903Q probably damaging Het
Slc15a5 C T 6: 138,043,600 R245H probably benign Het
Slc24a5 A T 2: 125,068,298 T40S probably benign Het
Smchd1 T C 17: 71,431,253 N539S possibly damaging Het
Tlr11 A G 14: 50,363,032 D825G probably damaging Het
Top3b T G 16: 16,891,470 V674G possibly damaging Het
Urb2 G A 8: 124,028,237 V228I probably benign Het
Usp24 C T 4: 106,411,426 A2061V possibly damaging Het
Wdr72 C A 9: 74,154,930 H453N possibly damaging Het
Xkr9 T C 1: 13,701,376 M372T probably damaging Het
Zc3h12d T G 10: 7,867,332 S289A probably benign Het
Zfp607b A T 7: 27,698,715 M75L possibly damaging Het
Other mutations in Olfr792
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Olfr792 APN 10 129540842 missense probably benign 0.07
IGL01459:Olfr792 APN 10 129540541 start codon destroyed probably null 1.00
IGL03338:Olfr792 APN 10 129541056 missense probably damaging 0.99
R0382:Olfr792 UTSW 10 129541014 missense probably benign 0.01
R1672:Olfr792 UTSW 10 129540692 missense probably benign 0.00
R2285:Olfr792 UTSW 10 129540668 missense probably benign 0.22
R2938:Olfr792 UTSW 10 129540615 missense probably damaging 1.00
R3498:Olfr792 UTSW 10 129540909 missense probably damaging 1.00
R5309:Olfr792 UTSW 10 129541265 missense probably benign 0.01
R5312:Olfr792 UTSW 10 129541265 missense probably benign 0.01
R6004:Olfr792 UTSW 10 129540890 missense probably benign 0.31
R6800:Olfr792 UTSW 10 129541263 missense probably damaging 1.00
R7127:Olfr792 UTSW 10 129541067 missense probably damaging 1.00
R7167:Olfr792 UTSW 10 129540738 missense possibly damaging 0.88
R7763:Olfr792 UTSW 10 129541455 missense probably benign
R7819:Olfr792 UTSW 10 129540693 missense probably benign 0.01
Posted On2015-04-16