Incidental Mutation 'IGL02184:Olfr1134'
ID284248
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1134
Ensembl Gene ENSMUSG00000111747
Gene Name
SynonymsGA_x6K02T2Q125-49162076-49161138, MOR176-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL02184
Quality Score
Status
Chromosome2
Chromosomal Location87655673-87658460 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 87656792 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 43 (L43P)
Ref Sequence ENSEMBL: ENSMUSP00000150358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099857] [ENSMUST00000135875] [ENSMUST00000213939]
Predicted Effect probably damaging
Transcript: ENSMUST00000099854
AA Change: L43P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097440
Gene: ENSMUSG00000075154
AA Change: L43P

DomainStartEndE-ValueType
GHB 123 190 1.21e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000099857
AA Change: L43P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097443
Gene: ENSMUSG00000111747
AA Change: L43P

DomainStartEndE-ValueType
GHB 123 190 1.21e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000135875
AA Change: L43P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000213939
AA Change: L43P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T G 13: 63,068,111 I399S possibly damaging Het
Adam15 C T 3: 89,345,934 probably benign Het
Antxr2 A C 5: 97,977,595 probably null Het
Atp8b3 A C 10: 80,527,233 probably benign Het
Brwd1 A T 16: 96,013,829 M1417K probably damaging Het
Camk2d A T 3: 126,797,773 R297S probably damaging Het
Cntnap1 A T 11: 101,178,365 H215L probably damaging Het
Cytip T C 2: 58,133,738 S357G probably damaging Het
Fancg A G 4: 43,006,872 Y273H possibly damaging Het
Fbxo36 A G 1: 84,881,164 S57G probably benign Het
Fgf8 A T 19: 45,737,216 L141Q probably damaging Het
Gm5039 T C 12: 88,321,181 R101G probably benign Het
Gm765 T C 6: 98,248,098 S75G possibly damaging Het
Grm5 C T 7: 88,026,442 T388M probably damaging Het
Hipk1 A G 3: 103,758,750 L589P possibly damaging Het
Kiz T C 2: 146,889,600 S337P probably benign Het
Lrrc37a A T 11: 103,497,609 I2330K unknown Het
Mdfic T A 6: 15,770,367 I124K possibly damaging Het
Mttp A G 3: 138,116,000 probably null Het
Myom1 G A 17: 71,072,137 S632N possibly damaging Het
Nlrp12 T C 7: 3,240,464 K473E probably damaging Het
Nrp2 C A 1: 62,718,940 C28* probably null Het
Nwd2 G T 5: 63,805,677 G868V probably damaging Het
Olfr1246 G A 2: 89,590,293 T274I probably damaging Het
Olfr48 G A 2: 89,844,385 A196V probably damaging Het
Pappa A T 4: 65,340,691 M1559L possibly damaging Het
Pmm2 T A 16: 8,637,804 D10E possibly damaging Het
Polm T C 11: 5,830,137 Q300R probably benign Het
Prrc2b T A 2: 32,221,455 N1208K probably benign Het
Serpinb3c T C 1: 107,271,918 D291G probably damaging Het
Slc1a2 T C 2: 102,748,544 F268S probably damaging Het
Slc26a4 A G 12: 31,549,949 Y127H probably damaging Het
Slc29a4 A G 5: 142,717,751 Y260C probably damaging Het
Sorbs3 C T 14: 70,184,006 probably null Het
Spen T C 4: 141,487,606 Y534C unknown Het
Tmem237 T C 1: 59,120,111 probably null Het
Tnfrsf21 A T 17: 43,085,463 N546I probably benign Het
Tpgs2 T A 18: 25,140,573 D177V probably damaging Het
Tpx2 C T 2: 152,882,320 R339* probably null Het
Trim12c T C 7: 104,348,223 Y42C probably benign Het
Trip10 A T 17: 57,257,272 E341V probably damaging Het
Trpm8 A T 1: 88,330,694 probably null Het
Ttc37 A G 13: 76,111,691 K37E probably damaging Het
Ubr1 T A 2: 120,900,508 I1221F probably benign Het
Ucp2 C T 7: 100,499,322 A301V probably benign Het
Zfyve1 T C 12: 83,558,693 I411V probably benign Het
Other mutations in Olfr1134
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Olfr1134 APN 2 87656238 missense probably benign 0.01
IGL01397:Olfr1134 APN 2 87656905 missense probably damaging 0.99
IGL01583:Olfr1134 APN 2 87656413 nonsense probably null
IGL01655:Olfr1134 APN 2 87656429 missense probably damaging 1.00
IGL02263:Olfr1134 APN 2 87656199 missense probably damaging 1.00
IGL02964:Olfr1134 APN 2 87656714 missense probably damaging 1.00
IGL03391:Olfr1134 APN 2 87656688 missense possibly damaging 0.93
R5171:Olfr1134 UTSW 2 87656544 missense possibly damaging 0.95
R6434:Olfr1134 UTSW 2 87656214 nonsense probably null
R7466:Olfr1134 UTSW 2 87656396 missense possibly damaging 0.73
R7770:Olfr1134 UTSW 2 87656469 missense not run
Posted On2015-04-16