Incidental Mutation 'IGL00907:Olfr1195'
ID26845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1195
Ensembl Gene ENSMUSG00000075121
Gene Nameolfactory receptor 1195
SynonymsMOR230-12_p, GA_x6K02T2Q125-50163514-50162588, MOR230-4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.150) question?
Stock #IGL00907
Quality Score
Status
Chromosome2
Chromosomal Location88681455-88689187 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88683294 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 146 (V146A)
Ref Sequence ENSEMBL: ENSMUSP00000149442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081697] [ENSMUST00000099818] [ENSMUST00000213545] [ENSMUST00000213893] [ENSMUST00000216767]
Predicted Effect probably benign
Transcript: ENSMUST00000081697
SMART Domains Protein: ENSMUSP00000080399
Gene: ENSMUSG00000060827

DomainStartEndE-ValueType
Pfam:7tm_4 36 310 7.5e-51 PFAM
Pfam:7tm_1 46 292 7.3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099818
AA Change: V146A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097406
Gene: ENSMUSG00000075121
AA Change: V146A

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-47 PFAM
Pfam:7TM_GPCR_Srsx 32 300 1.6e-5 PFAM
Pfam:7tm_1 39 285 5.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213545
AA Change: V146A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000213893
Predicted Effect probably benign
Transcript: ENSMUST00000216767
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217271
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armt1 A G 10: 4,454,051 F379V possibly damaging Het
Atp8b1 T C 18: 64,561,705 D502G possibly damaging Het
Brwd3 A G X: 108,784,246 probably benign Het
Ccdc171 T A 4: 83,864,249 H1259Q probably damaging Het
Chd7 T C 4: 8,840,435 I1401T probably damaging Het
Csf1 T C 3: 107,750,346 N76S probably damaging Het
Dld A G 12: 31,332,330 probably benign Het
Eif5 T A 12: 111,540,555 I141N probably damaging Het
Etl4 G A 2: 20,766,478 G674D possibly damaging Het
Fam234a G A 17: 26,213,526 R550W probably damaging Het
Hipk2 A G 6: 38,818,273 S347P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Hsd17b2 A T 8: 117,734,694 I157L probably benign Het
Ibtk A G 9: 85,690,331 S1269P possibly damaging Het
Igsf3 T C 3: 101,427,448 probably benign Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Kir3dl1 G A X: 136,525,162 C95Y probably damaging Het
Lamc2 A G 1: 153,144,651 V383A probably benign Het
Mael A G 1: 166,204,849 Y314H probably damaging Het
Npat T C 9: 53,563,290 V794A possibly damaging Het
Nr4a2 T A 2: 57,109,217 I340F probably damaging Het
Olfr477 A T 7: 107,990,890 D175V probably damaging Het
Olfr836 T A 9: 19,121,232 D89E possibly damaging Het
Pdcd11 T C 19: 47,107,564 V641A probably benign Het
Phf24 C T 4: 42,938,667 T264I probably benign Het
Sars2 G T 7: 28,753,423 probably benign Het
Scn1a A C 2: 66,327,797 S411A probably damaging Het
Srsf5 T C 12: 80,947,834 V112A probably damaging Het
Susd2 T C 10: 75,640,931 N206S probably benign Het
Thrap3 C T 4: 126,165,578 G892S probably benign Het
Ttc32 T A 12: 9,034,953 Y58N probably damaging Het
Other mutations in Olfr1195
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01396:Olfr1195 APN 2 88683231 missense probably damaging 0.99
IGL02871:Olfr1195 APN 2 88683084 missense probably damaging 1.00
IGL03049:Olfr1195 APN 2 88683490 missense possibly damaging 0.49
R0408:Olfr1195 UTSW 2 88683655 missense probably benign 0.04
R1562:Olfr1195 UTSW 2 88683079 missense probably benign 0.01
R5308:Olfr1195 UTSW 2 88683405 missense probably benign 0.09
R5806:Olfr1195 UTSW 2 88683151 missense probably damaging 1.00
R6119:Olfr1195 UTSW 2 88683591 missense probably damaging 0.98
R6178:Olfr1195 UTSW 2 88683633 missense probably damaging 1.00
R6510:Olfr1195 UTSW 2 88682958 missense probably benign 0.07
R6919:Olfr1195 UTSW 2 88683684 missense possibly damaging 0.93
R7205:Olfr1195 UTSW 2 88683423 missense possibly damaging 0.78
R7253:Olfr1195 UTSW 2 88683625 missense possibly damaging 0.87
R7663:Olfr1195 UTSW 2 88683352 missense probably damaging 1.00
R8011:Olfr1195 UTSW 2 88683193 nonsense probably null
Posted On2013-04-17