Incidental Mutation 'IGL02546:Olfr812'
ID297813
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr812
Ensembl Gene ENSMUSG00000049052
Gene Nameolfactory receptor 812
SynonymsGA_x6K02T2PULF-11521598-11520666, MOR110-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL02546
Quality Score
Status
Chromosome10
Chromosomal Location129841418-129846094 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 129842547 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 165 (D165V)
Ref Sequence ENSEMBL: ENSMUSP00000145482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057775] [ENSMUST00000203571] [ENSMUST00000205013]
Predicted Effect probably damaging
Transcript: ENSMUST00000057775
AA Change: D165V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000053359
Gene: ENSMUSG00000049052
AA Change: D165V

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.3e-50 PFAM
Pfam:7tm_1 39 288 9.5e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000203571
AA Change: D165V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145284
Gene: ENSMUSG00000049052
AA Change: D165V

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.3e-50 PFAM
Pfam:7tm_1 39 288 9.5e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205013
AA Change: D165V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000145482
Gene: ENSMUSG00000049052
AA Change: D165V

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 1.3e-44 PFAM
Pfam:7tm_1 39 288 4.1e-23 PFAM
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444G20Rik A T 10: 22,066,927 W385R probably damaging Het
A730017C20Rik T A 18: 59,072,275 M45K probably damaging Het
Akap6 G T 12: 52,880,738 V144L probably damaging Het
Carmil1 A T 13: 24,115,499 N347K probably damaging Het
Cyp4a32 A G 4: 115,611,323 Y334C probably damaging Het
Dmxl2 C A 9: 54,366,414 probably benign Het
Eps8 C T 6: 137,479,066 A806T probably benign Het
Evl A G 12: 108,648,419 N24S possibly damaging Het
Fbxo15 T C 18: 84,962,722 probably null Het
Gm14179 A T 11: 99,743,193 Het
Hepacam2 A G 6: 3,483,568 V147A possibly damaging Het
Jmjd1c C A 10: 67,225,336 P1156Q possibly damaging Het
Mab21l3 A T 3: 101,823,308 V205E probably damaging Het
Mad2l1 T C 6: 66,535,967 I28T probably damaging Het
Mroh9 T A 1: 163,080,576 I2F probably benign Het
Msr1 A T 8: 39,615,747 I302K probably benign Het
Msrb3 C T 10: 120,850,001 V80I possibly damaging Het
Ncf4 A G 15: 78,261,019 D269G probably damaging Het
Nsl1 T A 1: 191,071,201 H156Q probably benign Het
Nutm1 T C 2: 112,248,324 D1082G probably benign Het
Olfr835 T A 9: 19,035,354 V77D possibly damaging Het
Orc4 T C 2: 48,917,284 I212V probably null Het
Pde6c A G 19: 38,140,040 I184V probably benign Het
Pfkfb3 A T 2: 11,488,778 F129Y probably damaging Het
Ppp3cb T C 14: 20,501,554 D493G probably benign Het
Psg29 A G 7: 17,208,782 Y236C probably damaging Het
Pzp C T 6: 128,494,699 probably benign Het
Sgf29 T A 7: 126,671,853 V180E probably damaging Het
Sh3bp4 A G 1: 89,143,544 probably benign Het
Slc39a2 A T 14: 51,895,163 T188S probably benign Het
Slc6a13 G T 6: 121,333,364 M327I probably benign Het
Slitrk6 T A 14: 110,749,794 H827L probably benign Het
Thumpd2 T G 17: 81,054,455 K114T probably benign Het
Tnfrsf19 A T 14: 60,973,538 C234S possibly damaging Het
Tns2 A G 15: 102,110,940 D446G probably damaging Het
Tpm4 A G 8: 72,144,703 E137G probably damaging Het
Ttn G A 2: 76,795,557 R13307C probably damaging Het
Ubqln3 A G 7: 104,142,518 S122P probably benign Het
Ubr5 T C 15: 38,008,747 D1080G probably benign Het
Ulk4 A T 9: 121,152,307 L886* probably null Het
Unc80 T C 1: 66,554,953 S1164P possibly damaging Het
Uspl1 T C 5: 149,204,304 V371A possibly damaging Het
Virma T C 4: 11,494,804 V35A probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp787 A T 7: 6,132,298 I318N probably damaging Het
Other mutations in Olfr812
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Olfr812 APN 10 129842473 missense probably damaging 1.00
IGL01637:Olfr812 APN 10 129842610 missense probably benign 0.14
IGL02035:Olfr812 APN 10 129842790 missense possibly damaging 0.95
R1902:Olfr812 UTSW 10 129842506 missense probably benign
R4583:Olfr812 UTSW 10 129842475 missense probably damaging 1.00
R4598:Olfr812 UTSW 10 129842995 missense possibly damaging 0.92
R4714:Olfr812 UTSW 10 129842945 missense probably damaging 0.99
R5196:Olfr812 UTSW 10 129842781 missense possibly damaging 0.90
R5953:Olfr812 UTSW 10 129842614 missense probably benign 0.22
R6311:Olfr812 UTSW 10 129842907 missense possibly damaging 0.88
R6356:Olfr812 UTSW 10 129842608 missense probably benign 0.14
R6499:Olfr812 UTSW 10 129842584 missense probably benign 0.00
Posted On2015-04-16