Incidental Mutation 'IGL03125:Olfr1331'
ID 410124
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1331
Ensembl Gene ENSMUSG00000073769
Gene Name olfactory receptor 1331
Synonyms MOR259-3P, GA_x6K02T2QD9B-18670866-18669913
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL03125
Quality Score
Status
Chromosome 4
Chromosomal Location 118864649-118871707 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118868921 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 47 (I47F)
Ref Sequence ENSEMBL: ENSMUSP00000101967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094831] [ENSMUST00000106360] [ENSMUST00000216589]
AlphaFold K7N684
Predicted Effect possibly damaging
Transcript: ENSMUST00000094831
AA Change: I47F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092426
Gene: ENSMUSG00000073769
AA Change: I47F

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 2.1e-53 PFAM
Pfam:7tm_1 42 291 3.9e-22 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000106360
AA Change: I47F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000101967
Gene: ENSMUSG00000073769
AA Change: I47F

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 1.2e-28 PFAM
Pfam:7tm_4 139 283 2.8e-45 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216589
AA Change: I46F

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A C 5: 114,204,805 S911R possibly damaging Het
Acap1 G A 11: 69,887,038 R125C probably damaging Het
Car7 A T 8: 104,548,219 S131C probably benign Het
Erich6 G T 3: 58,624,306 T423N probably benign Het
Insr T C 8: 3,184,972 H174R possibly damaging Het
Lrch3 A G 16: 32,914,277 S46G possibly damaging Het
Meis3 G T 7: 16,178,770 R144L probably damaging Het
Obscn T C 11: 59,061,648 E4162G probably damaging Het
Olfr734 T C 14: 50,320,692 T48A probably benign Het
Per2 T C 1: 91,450,611 H72R probably benign Het
Prdm11 C T 2: 92,980,622 A211T probably benign Het
Pygl A G 12: 70,197,482 S471P probably damaging Het
Reln A T 5: 21,910,844 N3055K probably damaging Het
Spata31 A C 13: 64,920,889 N284H probably benign Het
Stk36 A T 1: 74,623,313 D530V probably damaging Het
Stxbp5l G T 16: 37,186,721 D703E probably benign Het
Usp24 A G 4: 106,392,402 I1439V probably benign Het
Other mutations in Olfr1331
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Olfr1331 APN 4 118869287 missense probably damaging 1.00
IGL01314:Olfr1331 APN 4 118869131 missense probably benign 0.26
IGL02025:Olfr1331 APN 4 118869165 missense probably damaging 1.00
IGL02458:Olfr1331 APN 4 118869300 missense possibly damaging 0.83
IGL02793:Olfr1331 APN 4 118869597 missense probably damaging 1.00
IGL02827:Olfr1331 APN 4 118868960 missense probably damaging 0.99
IGL02863:Olfr1331 APN 4 118868886 missense possibly damaging 0.52
R0078:Olfr1331 UTSW 4 118869227 missense probably benign
R0152:Olfr1331 UTSW 4 118868886 missense possibly damaging 0.89
R0299:Olfr1331 UTSW 4 118869416 missense probably benign 0.00
R3881:Olfr1331 UTSW 4 118869353 missense probably benign 0.00
R3928:Olfr1331 UTSW 4 118868982 missense probably damaging 1.00
R3929:Olfr1331 UTSW 4 118868982 missense probably damaging 1.00
R5288:Olfr1331 UTSW 4 118869575 missense probably damaging 1.00
R5552:Olfr1331 UTSW 4 118869468 missense probably damaging 1.00
R5672:Olfr1331 UTSW 4 118869182 missense possibly damaging 0.83
R5773:Olfr1331 UTSW 4 118869521 missense probably damaging 0.97
R6117:Olfr1331 UTSW 4 118869144 missense probably benign 0.39
R6910:Olfr1331 UTSW 4 118869138 missense probably damaging 1.00
R6911:Olfr1331 UTSW 4 118869138 missense probably damaging 1.00
R6912:Olfr1331 UTSW 4 118869138 missense probably damaging 1.00
R7164:Olfr1331 UTSW 4 118869725 missense probably benign 0.30
R7446:Olfr1331 UTSW 4 118868822 missense possibly damaging 0.83
R9747:Olfr1331 UTSW 4 118869020 missense probably damaging 1.00
T0975:Olfr1331 UTSW 4 118869303 missense probably benign 0.02
Posted On 2016-08-02