Incidental Mutation 'IGL02827:Olfr1331'
ID 361242
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 # IGL02827
Quality Score
Status
Chromosome 4
Chromosomal Location 118864649-118871707 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118868960 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 60 (M60L)
Ref Sequence ENSEMBL: ENSMUSP00000101967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094831] [ENSMUST00000106360] [ENSMUST00000216589]
AlphaFold K7N684
Predicted Effect probably damaging
Transcript: ENSMUST00000094831
AA Change: M60L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000092426
Gene: ENSMUSG00000073769
AA Change: M60L

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 2.1e-53 PFAM
Pfam:7tm_1 42 291 3.9e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106360
AA Change: M60L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101967
Gene: ENSMUSG00000073769
AA Change: M60L

DomainStartEndE-ValueType
Pfam:7tm_1 41 290 1.2e-28 PFAM
Pfam:7tm_4 139 283 2.8e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216589
AA Change: M59L

PolyPhen 2 Score 0.989 (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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 80,009,865 S1554P probably damaging Het
Actn2 A T 13: 12,275,199 L152Q probably damaging Het
Afg3l2 T C 18: 67,425,945 I369V probably damaging Het
Aqp6 G A 15: 99,603,011 G199S probably damaging Het
Asgr2 A G 11: 70,096,897 I74V probably benign Het
Cebpz T C 17: 78,929,331 R702G probably damaging Het
Cers1 C T 8: 70,321,527 P145S probably damaging Het
Ddx21 T C 10: 62,598,374 K202R probably benign Het
Gm13119 C T 4: 144,363,761 A457V probably damaging Het
Gphn A T 12: 78,609,220 D407V probably damaging Het
Hnf1b A G 11: 83,855,926 K123E probably damaging Het
Ifitm10 T C 7: 142,328,580 D151G unknown Het
Ifna14 T A 4: 88,571,364 K145N probably benign Het
Lamc2 C T 1: 153,139,781 C602Y probably damaging Het
Mrps25 T C 6: 92,175,182 E119G probably benign Het
Olfr1366 A G 13: 21,537,358 S216P probably benign Het
Pgm5 C A 19: 24,709,295 R516L probably benign Het
Rmnd5b A G 11: 51,628,022 L48P possibly damaging Het
Samd4b G A 7: 28,414,121 R140C probably damaging Het
Sema3d T C 5: 12,585,118 I717T probably benign Het
Sh3tc2 G A 18: 62,013,159 S1203N probably benign Het
Smpdl3a A G 10: 57,802,496 T132A probably damaging Het
Stard13 T C 5: 151,063,126 I188M probably benign Het
Stk17b T C 1: 53,776,542 T33A probably benign Het
Stxbp3 A T 3: 108,809,895 I264N probably damaging Het
Tmem60 T A 5: 20,886,624 F129Y probably damaging Het
Trpm1 A G 7: 64,219,160 D404G probably null Het
Unc79 A C 12: 103,074,846 S713R possibly damaging Het
Uox A C 3: 146,597,196 probably benign Het
Vmn2r68 T C 7: 85,237,592 D38G probably damaging Het
Vps13a T C 19: 16,641,634 D2856G possibly damaging Het
Vsig10l T C 7: 43,464,869 L205P probably damaging 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
IGL02863:Olfr1331 APN 4 118868886 missense possibly damaging 0.52
IGL03125:Olfr1331 APN 4 118868921 missense possibly damaging 0.95
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 2015-12-18