Incidental Mutation 'IGL02508:Olfr692'
ID296436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr692
Ensembl Gene ENSMUSG00000073906
Gene Nameolfactory receptor 692
SynonymsGA_x6K02T2PBJ9-7994144-7995106, MOR36-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.137) question?
Stock #IGL02508
Quality Score
Status
Chromosome7
Chromosomal Location105368230-105369355 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 105368536 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 61 (H61L)
Ref Sequence ENSEMBL: ENSMUSP00000095755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098152] [ENSMUST00000179474] [ENSMUST00000217827]
Predicted Effect possibly damaging
Transcript: ENSMUST00000098152
AA Change: H61L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095755
Gene: ENSMUSG00000073906
AA Change: H61L

DomainStartEndE-ValueType
Pfam:7tm_4 45 325 1.3e-90 PFAM
Pfam:7TM_GPCR_Srsx 49 233 1.3e-7 PFAM
Pfam:7tm_1 55 307 3.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179474
SMART Domains Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465

DomainStartEndE-ValueType
Pfam:RAI16-like 96 426 4.2e-98 PFAM
low complexity region 496 515 N/A INTRINSIC
low complexity region 541 558 N/A INTRINSIC
low complexity region 711 724 N/A INTRINSIC
low complexity region 732 744 N/A INTRINSIC
low complexity region 905 920 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211019
AA Change: H70L
Predicted Effect possibly damaging
Transcript: ENSMUST00000217827
AA Change: H70L

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik T A 3: 117,077,115 noncoding transcript Het
5430419D17Rik A G 7: 131,222,830 E91G probably damaging Het
Adgrv1 A T 13: 81,435,556 probably benign Het
AI429214 T G 8: 36,994,086 D129E probably benign Het
Alx1 G A 10: 103,022,193 T215M probably damaging Het
Arhgap39 A G 15: 76,724,984 *1079Q probably null Het
Brca2 T C 5: 150,543,308 V2179A possibly damaging Het
Celsr1 G A 15: 86,030,617 Q1052* probably null Het
Chd5 A G 4: 152,363,024 E510G probably damaging Het
Cntnap2 A G 6: 46,234,320 D556G probably damaging Het
Cux2 G A 5: 121,860,822 P1352S possibly damaging Het
Cyp4a31 A T 4: 115,571,064 Y319F probably damaging Het
Dcaf12 C T 4: 41,296,310 probably null Het
Dcc C A 18: 71,370,702 A942S probably benign Het
Dyrk1a A T 16: 94,685,183 D463V probably damaging Het
Eln T A 5: 134,704,568 probably benign Het
Fbxl13 A G 5: 21,556,805 probably null Het
Fndc3b T C 3: 27,458,751 Y742C probably damaging Het
Furin G A 7: 80,392,521 T442I probably benign Het
Gli1 T C 10: 127,337,092 Q155R probably benign Het
Glra3 A G 8: 56,085,144 E218G probably benign Het
Gm13101 T C 4: 143,965,020 N378D probably benign Het
Grb10 C T 11: 11,946,767 V236M probably damaging Het
Grhl2 T C 15: 37,309,765 probably benign Het
Hgfac A T 5: 35,047,220 M579L probably damaging Het
Ifi202b A T 1: 173,974,772 D165E probably benign Het
Klhl26 A T 8: 70,452,731 D95E probably damaging Het
Klk12 T C 7: 43,769,689 V26A probably benign Het
Lrp2 C T 2: 69,503,430 G1489D probably benign Het
Lrrtm1 A T 6: 77,244,591 S344C probably damaging Het
Lzts1 G A 8: 69,140,848 R36* probably null Het
Mapkap1 T C 2: 34,518,669 probably benign Het
Meis3 T A 7: 16,178,797 probably null Het
Mtmr14 T A 6: 113,240,306 C60S probably damaging Het
Nfkb1 T A 3: 135,590,818 Y789F probably damaging Het
Nup54 G A 5: 92,417,539 Q440* probably null Het
Ogdhl T G 14: 32,345,174 M861R probably damaging Het
Olfr1290 C T 2: 111,489,835 A108T probably damaging Het
Olfr1425 G T 19: 12,073,887 H248Q possibly damaging Het
Olfr156 T C 4: 43,821,289 E24G possibly damaging Het
Olfr810 A G 10: 129,790,791 V266A probably benign Het
Pde6c A G 19: 38,157,500 K412R probably benign Het
Pex5l T C 3: 32,992,902 probably benign Het
Pigr A T 1: 130,850,858 I760L probably benign Het
Prr14l G A 5: 32,830,942 A403V probably benign Het
Prrt3 T C 6: 113,494,307 D968G probably damaging Het
Psmc5 T C 11: 106,263,043 I401T possibly damaging Het
Ralyl T A 3: 14,107,272 probably benign Het
Samd9l T C 6: 3,374,798 E821G probably damaging Het
Serpinb3a T A 1: 107,046,072 I370F probably damaging Het
Setd1a A G 7: 127,797,698 probably benign Het
Slco2a1 T A 9: 103,074,416 F381L probably benign Het
Strada A G 11: 106,168,356 Y199H probably benign Het
Stxbp2 T C 8: 3,632,531 I40T probably damaging Het
Tbx3 T C 5: 119,678,812 V358A possibly damaging Het
Tenm3 A G 8: 48,299,639 L896S probably benign Het
Tmem132a A G 19: 10,858,518 S883P probably damaging Het
Trio A G 15: 27,818,104 I496T possibly damaging Het
Unc79 C T 12: 103,112,276 R1548W probably damaging Het
Unc79 T C 12: 103,112,018 probably benign Het
Vmn2r9 T C 5: 108,848,201 M194V possibly damaging Het
Other mutations in Olfr692
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Olfr692 APN 7 105369247 missense probably damaging 1.00
IGL01772:Olfr692 APN 7 105368434 missense probably benign 0.03
IGL03103:Olfr692 APN 7 105368578 missense probably damaging 1.00
R1147:Olfr692 UTSW 7 105369277 missense probably benign 0.14
R1147:Olfr692 UTSW 7 105369277 missense probably benign 0.14
R5237:Olfr692 UTSW 7 105369306 nonsense probably null
R5294:Olfr692 UTSW 7 105368413 missense probably benign 0.41
R5955:Olfr692 UTSW 7 105368569 missense probably damaging 1.00
R6321:Olfr692 UTSW 7 105368902 missense probably damaging 1.00
R7171:Olfr692 UTSW 7 105368761 missense probably benign 0.02
R7284:Olfr692 UTSW 7 105368545 missense probably damaging 0.98
Posted On2015-04-16