Incidental Mutation 'IGL01592:Olfr810'
ID91611
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr810
Ensembl Gene ENSMUSG00000069421
Gene Nameolfactory receptor 810
SynonymsMOR113-4, GA_x6K02T2PULF-11470271-11469333
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL01592
Quality Score
Status
Chromosome10
Chromosomal Location129787289-129794917 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129791319 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 90 (I90T)
Ref Sequence ENSEMBL: ENSMUSP00000150364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091986] [ENSMUST00000214206] [ENSMUST00000214878] [ENSMUST00000217283]
Predicted Effect probably damaging
Transcript: ENSMUST00000091986
AA Change: I90T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000089612
Gene: ENSMUSG00000069421
AA Change: I90T

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 7.3e-50 PFAM
Pfam:7tm_1 39 288 5e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214206
AA Change: I90T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000214878
AA Change: I90T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000217283
AA Change: I90T

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 A G 12: 53,142,142 D2113G probably damaging Het
Atf6b T A 17: 34,649,137 V125E probably damaging Het
Cdan1 T A 2: 120,725,985 Y653F probably damaging Het
Ces1d A G 8: 93,195,089 probably benign Het
Dnah2 G T 11: 69,431,087 N3802K probably benign Het
Dnah5 A G 15: 28,236,637 I370V probably benign Het
Dpp10 T C 1: 123,334,370 E761G probably damaging Het
Dusp19 A G 2: 80,617,481 E33G probably damaging Het
E2f7 T A 10: 110,746,406 D25E possibly damaging Het
E2f8 T C 7: 48,867,857 T733A probably damaging Het
Golga1 T C 2: 39,063,282 E32G probably damaging Het
Grip1 T A 10: 119,930,003 V80E probably damaging Het
Igsf6 T C 7: 121,070,793 Y42C probably damaging Het
Katna1 T G 10: 7,741,454 M70R probably damaging Het
Limk2 T C 11: 3,359,052 K102R probably benign Het
Lypla1 T A 1: 4,828,651 probably null Het
Olfr373 T A 8: 72,100,512 F251I probably damaging Het
Pgap1 G A 1: 54,521,311 P444L probably damaging Het
Pigr G A 1: 130,849,058 V657M probably damaging Het
Plscr1 T A 9: 92,266,750 Y214* probably null Het
Polq A C 16: 37,034,850 I436L probably benign Het
Ppfia2 T A 10: 106,836,048 probably benign Het
Serpina12 A G 12: 104,038,122 S84P probably damaging Het
Slc30a6 T A 17: 74,419,528 probably benign Het
Trim38 A G 13: 23,791,427 T450A possibly damaging Het
Ubqlnl A T 7: 104,150,289 probably benign Het
Vmn2r24 A G 6: 123,787,486 K441E probably benign Het
Wnt8a A G 18: 34,544,793 T85A probably damaging Het
Other mutations in Olfr810
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02365:Olfr810 APN 10 129791535 missense possibly damaging 0.81
IGL02508:Olfr810 APN 10 129790791 missense probably benign 0.44
R0638:Olfr810 UTSW 10 129791232 missense probably damaging 1.00
R0680:Olfr810 UTSW 10 129790818 missense probably damaging 1.00
R0847:Olfr810 UTSW 10 129791458 missense probably damaging 1.00
R1449:Olfr810 UTSW 10 129790854 missense probably damaging 1.00
R1776:Olfr810 UTSW 10 129791131 missense probably benign 0.00
R1938:Olfr810 UTSW 10 129790890 missense probably damaging 1.00
R3836:Olfr810 UTSW 10 129791170 missense probably benign 0.01
R4521:Olfr810 UTSW 10 129791181 missense possibly damaging 0.58
R4816:Olfr810 UTSW 10 129791439 missense probably damaging 1.00
R6287:Olfr810 UTSW 10 129791385 missense probably damaging 1.00
Posted On2013-12-09