Incidental Mutation 'IGL02035:Olfr812'
ID184483
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 #IGL02035
Quality Score
Status
Chromosome10
Chromosomal Location129841418-129846094 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129842790 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 84 (L84P)
Ref Sequence ENSEMBL: ENSMUSP00000145482 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057775] [ENSMUST00000203571] [ENSMUST00000205013]
Predicted Effect possibly damaging
Transcript: ENSMUST00000057775
AA Change: L84P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000053359
Gene: ENSMUSG00000049052
AA Change: L84P

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.3e-50 PFAM
Pfam:7tm_1 39 288 9.5e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203571
AA Change: L84P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145284
Gene: ENSMUSG00000049052
AA Change: L84P

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.3e-50 PFAM
Pfam:7tm_1 39 288 9.5e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205013
AA Change: L84P

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000145482
Gene: ENSMUSG00000049052
AA Change: L84P

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930017K11Rik G T 17: 25,947,162 H384N probably benign Het
Ahctf1 A T 1: 179,766,014 I1135N probably benign Het
Atl1 A G 12: 69,960,544 probably benign Het
Atr A G 9: 95,866,682 N427D probably benign Het
Chd2 T C 7: 73,441,627 probably null Het
Cnot4 A T 6: 35,070,251 V142D probably damaging Het
Ctnnd1 A T 2: 84,620,081 V265E probably damaging Het
Ddx27 G T 2: 167,029,512 V510F probably benign Het
Elac2 A G 11: 65,001,835 S822G probably benign Het
Fat3 A T 9: 16,377,970 F86I probably benign Het
Fbn1 T A 2: 125,335,362 probably null Het
Fgd4 C T 16: 16,490,416 probably benign Het
Furin T C 7: 80,390,987 E701G probably benign Het
Fzd2 A G 11: 102,606,444 *571W probably null Het
Gm9 A T X: 37,210,891 H3Q probably benign Het
Jak2 T C 19: 29,286,408 V441A probably benign Het
Kcnj3 T A 2: 55,437,578 N126K probably damaging Het
Lca5 T C 9: 83,423,312 E147G probably damaging Het
Magt1 G T X: 105,983,776 probably null Het
Nkx6-2 A T 7: 139,581,685 W195R probably damaging Het
Nt5c1a A T 4: 123,214,102 S193C possibly damaging Het
Os9 G A 10: 127,096,291 P604S possibly damaging Het
Pecam1 C T 11: 106,695,859 A277T probably benign Het
Polr1c A G 17: 46,246,159 V66A possibly damaging Het
Proser1 T C 3: 53,478,830 V711A probably benign Het
Sbp A G 17: 23,942,612 N19S possibly damaging Het
Sh3bp4 A G 1: 89,143,690 T87A probably benign Het
Vmn1r59 A T 7: 5,454,209 I184N possibly damaging Het
Zcchc14 T C 8: 121,604,615 probably benign 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
IGL02546:Olfr812 APN 10 129842547 missense probably damaging 0.97
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 On2014-05-07