Incidental Mutation 'IGL02674:Olfr796'
ID303046
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr796
Ensembl Gene ENSMUSG00000052012
Gene Nameolfactory receptor 796
SynonymsGA_x6K02T2PULF-11287099-11286167, MOR269-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.119) question?
Stock #IGL02674
Quality Score
Status
Chromosome10
Chromosomal Location129605492-129612570 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 129608070 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 137 (M137R)
Ref Sequence ENSEMBL: ENSMUSP00000150534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037071] [ENSMUST00000214584]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037071
AA Change: M137R

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000040207
Gene: ENSMUSG00000052012
AA Change: M137R

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 7.5e-50 PFAM
Pfam:7tm_1 41 291 2e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203977
AA Change: M137R
SMART Domains Protein: ENSMUSP00000145149
Gene: ENSMUSG00000052012
AA Change: M137R

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 7.5e-50 PFAM
Pfam:7tm_1 41 291 2e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214584
AA Change: M137R

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago2 T C 15: 73,111,794 R689G probably damaging Het
Agrn C T 4: 156,174,561 probably benign Het
Akna A T 4: 63,370,944 C1247* probably null Het
Appl1 T G 14: 26,949,461 T345P possibly damaging Het
Ccdc129 A G 6: 55,897,928 T288A probably benign Het
Chga A G 12: 102,562,901 D379G probably damaging Het
Chrna6 C T 8: 27,406,851 A333T probably benign Het
Col14a1 G A 15: 55,418,782 G813E unknown Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnhd1 A G 7: 105,721,481 Q4656R probably benign Het
Dock9 A C 14: 121,595,611 probably null Het
Fat4 A G 3: 38,983,337 N3713D probably benign Het
Fsd1 A T 17: 55,996,483 T452S probably benign Het
G6pc2 A G 2: 69,226,566 probably null Het
Kcnh4 C A 11: 100,746,894 V646L possibly damaging Het
Kcnk1 T C 8: 126,025,014 Y120H probably damaging Het
L3mbtl3 C T 10: 26,282,813 E646K unknown Het
Lrrc4c T C 2: 97,629,775 W249R probably damaging Het
Meox1 A T 11: 101,893,941 L22H probably damaging Het
Mrgpra4 C T 7: 47,980,942 V304M probably benign Het
Ncaph T C 2: 127,113,576 Y554C probably damaging Het
Nfx1 T C 4: 40,999,717 probably null Het
Olfr970 A G 9: 39,819,638 probably null Het
Otol1 C T 3: 70,018,744 P84L probably benign Het
Pcdhb11 T C 18: 37,423,614 S666P probably damaging Het
Pou2f3 T C 9: 43,139,333 K244R probably damaging Het
Ppp6r1 T C 7: 4,646,813 N51S probably damaging Het
Prdm4 A T 10: 85,893,399 L715M probably damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Rsc1a1 G T 4: 141,684,095 P502Q probably damaging Het
Senp1 T C 15: 98,056,959 E448G probably damaging Het
Shd A G 17: 55,971,554 D39G possibly damaging Het
Skint5 A C 4: 113,630,385 probably benign Het
Tmprss15 T G 16: 79,001,794 T667P possibly damaging Het
Tsta3 T C 15: 75,926,389 D178G probably damaging Het
Vps13b A T 15: 35,639,958 M1325L probably benign Het
Zfp263 T C 16: 3,746,765 probably benign Het
Zfp786 A G 6: 47,820,493 F504L probably benign Het
Other mutations in Olfr796
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0092:Olfr796 UTSW 10 129608221 missense probably damaging 0.99
R1074:Olfr796 UTSW 10 129608466 missense probably damaging 1.00
R4747:Olfr796 UTSW 10 129608184 missense possibly damaging 0.95
R4762:Olfr796 UTSW 10 129608174 missense probably damaging 0.98
R5237:Olfr796 UTSW 10 129607863 missense probably benign 0.00
R7082:Olfr796 UTSW 10 129607547 makesense probably null
R7082:Olfr796 UTSW 10 129607548 makesense probably null
R7111:Olfr796 UTSW 10 129607960 missense possibly damaging 0.80
R7313:Olfr796 UTSW 10 129608080 missense probably benign 0.01
R7565:Olfr796 UTSW 10 129608160 missense possibly damaging 0.81
Z1176:Olfr796 UTSW 10 129608103 missense probably damaging 1.00
Posted On2015-04-16