Incidental Mutation 'IGL01354:Olfr1380'
ID75463
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1380
Ensembl Gene ENSMUSG00000107645
Gene Nameolfactory receptor 1380
SynonymsMOR256-66_i, GA_x6K02T2QP88-5871967-5871032
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.177) question?
Stock #IGL01354
Quality Score
Status
Chromosome11
Chromosomal Location49556878-49565859 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 49564197 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 92 (I92T)
Ref Sequence ENSEMBL: ENSMUSP00000151039 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000204300] [ENSMUST00000215360]
Predicted Effect possibly damaging
Transcript: ENSMUST00000071426
AA Change: I92T

PolyPhen 2 Score 0.920 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000071373
Gene: ENSMUSG00000091308
AA Change: I92T

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 5.4e-47 PFAM
Pfam:7tm_1 41 289 9.6e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204300
AA Change: I92T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000145428
Gene: ENSMUSG00000107645
AA Change: I92T

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 5.4e-47 PFAM
Pfam:7tm_1 41 289 9.6e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215360
AA Change: I92T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; 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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 A G 10: 83,527,376 L41P probably damaging Het
Baz2b T C 2: 59,968,889 Q297R probably benign Het
Chl1 A T 6: 103,665,853 Q184L probably benign Het
Cyp2a5 A G 7: 26,837,103 D169G possibly damaging Het
Cyp2d34 G A 15: 82,617,622 T229M probably benign Het
Fgd5 C T 6: 92,061,843 R995* probably null Het
Gaa T C 11: 119,270,568 S146P probably benign Het
Gm11437 T A 11: 84,167,318 probably benign Het
Gm6614 T C 6: 141,990,408 N317S probably benign Het
Inpp5a T C 7: 139,538,234 F235L probably damaging Het
Lpp T A 16: 24,762,066 Y177* probably null Het
Malt1 A G 18: 65,475,191 Y654C probably damaging Het
Olfr1302 A C 2: 111,780,901 N194H possibly damaging Het
Olfr878 G A 9: 37,919,544 V301I possibly damaging Het
Otog A G 7: 46,289,726 N2060S probably damaging Het
Phc1 G A 6: 122,334,083 T98I probably damaging Het
Pik3cb A G 9: 99,064,168 I535T possibly damaging Het
Plxna2 A G 1: 194,762,435 I712V probably benign Het
Psmc2 A G 5: 21,795,836 E103G possibly damaging Het
Ptprb A G 10: 116,343,891 I1405V probably benign Het
Ralgapa1 T C 12: 55,777,316 N260D possibly damaging Het
Reln G A 5: 21,919,175 Q2778* probably null Het
Sptlc1 T A 13: 53,333,951 Q452L probably benign Het
Traf4 C A 11: 78,165,400 R14L possibly damaging Het
Ubap2 T C 4: 41,207,005 E191G probably damaging Het
Vstm4 A T 14: 32,919,245 T262S probably benign Het
Zrsr1 T A 11: 22,974,190 H321Q probably damaging Het
Other mutations in Olfr1380
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Olfr1380 APN 11 49563920 utr 5 prime probably benign
R0183:Olfr1380 UTSW 11 49564848 missense probably benign 0.14
R0849:Olfr1380 UTSW 11 49564302 missense probably damaging 0.99
R3855:Olfr1380 UTSW 11 49564091 missense probably damaging 0.98
R3904:Olfr1380 UTSW 11 49564758 missense possibly damaging 0.50
R4598:Olfr1380 UTSW 11 49564718 missense probably damaging 1.00
R4599:Olfr1380 UTSW 11 49564718 missense probably damaging 1.00
R5089:Olfr1380 UTSW 11 49564413 missense possibly damaging 0.94
R6029:Olfr1380 UTSW 11 49564601 missense possibly damaging 0.94
R6551:Olfr1380 UTSW 11 49563989 missense probably benign
R6953:Olfr1380 UTSW 11 49564290 missense probably damaging 1.00
R7223:Olfr1380 UTSW 11 49564098 missense probably damaging 0.99
R7343:Olfr1380 UTSW 11 49564502 missense possibly damaging 0.91
R7725:Olfr1380 UTSW 11 49564532 missense probably benign 0.01
R7762:Olfr1380 UTSW 11 49564761 missense possibly damaging 0.76
Posted On2013-10-07