Incidental Mutation 'IGL03287:Olfr1337'
ID415751
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1337
Ensembl Gene ENSMUSG00000111159
Gene Nameolfactory receptor 1337
SynonymsGA_x6K02T2QD9B-18767132-18768073, Olfr219-ps1, GA_x6K02SYWGW3-414-3, MOR259-10
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.181) question?
Stock #IGL03287
Quality Score
Status
Chromosome4
Chromosomal Location118781636-118782586 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 118782354 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 77 (V77A)
Ref Sequence ENSEMBL: ENSMUSP00000076483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077247]
Predicted Effect possibly damaging
Transcript: ENSMUST00000077247
AA Change: V77A

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000076483
Gene: ENSMUSG00000111159
AA Change: V77A

DomainStartEndE-ValueType
Pfam:7tm_4 34 310 7.8e-53 PFAM
Pfam:7TM_GPCR_Srsx 38 308 8.5e-7 PFAM
Pfam:7tm_1 44 293 8.3e-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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik A T 5: 114,870,176 D17V probably damaging Het
Cdh5 T A 8: 104,128,115 V225E probably damaging Het
Cfap52 C T 11: 67,935,976 probably benign Het
Cib4 A G 5: 30,488,543 L127P probably benign Het
Fbln2 A G 6: 91,233,494 H140R probably damaging Het
Grm8 A G 6: 27,760,255 F359L possibly damaging Het
Kat7 A T 11: 95,300,109 D150E probably damaging Het
Kif1b A G 4: 149,214,981 I944T possibly damaging Het
Krt87 T C 15: 101,432,337 probably benign Het
Mast1 T C 8: 84,913,353 S1142G probably benign Het
Neb A G 2: 52,137,323 Y6889H probably damaging Het
Olfr1 A T 11: 73,396,019 M1K probably null Het
Plk4 A T 3: 40,805,118 I150L probably benign Het
Scn5a T C 9: 119,489,778 D1598G probably damaging Het
Skor2 A G 18: 76,876,135 K925E probably damaging Het
Slc25a29 A T 12: 108,831,209 F22L possibly damaging Het
Slc27a2 A G 2: 126,553,392 T80A probably damaging Het
Tlr3 A G 8: 45,402,780 V121A probably benign Het
Tubgcp3 A T 8: 12,639,630 D545E possibly damaging Het
Zdhhc8 T C 16: 18,225,100 Y412C probably benign Het
Zmynd12 A G 4: 119,453,579 E328G probably damaging Het
Other mutations in Olfr1337
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02203:Olfr1337 APN 4 118782429 missense possibly damaging 0.95
IGL02626:Olfr1337 APN 4 118782334 missense probably damaging 0.98
IGL02699:Olfr1337 APN 4 118782152 nonsense probably null
IGL02754:Olfr1337 APN 4 118781920 missense possibly damaging 0.90
R1341:Olfr1337 UTSW 4 118782382 missense probably benign 0.01
R4894:Olfr1337 UTSW 4 118782286 missense probably damaging 1.00
R6124:Olfr1337 UTSW 4 118782195 missense probably damaging 1.00
R6515:Olfr1337 UTSW 4 118782270 missense probably benign 0.13
R6529:Olfr1337 UTSW 4 118781710 missense probably benign 0.15
R7040:Olfr1337 UTSW 4 118781986 missense probably benign 0.00
R7398:Olfr1337 UTSW 4 118781699 missense possibly damaging 0.80
R7684:Olfr1337 UTSW 4 118782274 missense probably benign 0.40
R8377:Olfr1337 UTSW 4 118782006 missense probably benign 0.22
Posted On2016-08-02