Incidental Mutation 'IGL01468:Olfr1352'
ID88167
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1352
Ensembl Gene ENSMUSG00000046493
Gene Nameolfactory receptor 1352
SynonymsMOR139-1, GA_x6K02T2QGN0-2828447-2827518
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL01468
Quality Score
Status
Chromosome10
Chromosomal Location78981050-78987903 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 78983862 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 24 (Q24L)
Ref Sequence ENSEMBL: ENSMUSP00000054355 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058991] [ENSMUST00000203973]
Predicted Effect probably damaging
Transcript: ENSMUST00000058991
AA Change: Q24L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000054355
Gene: ENSMUSG00000046493
AA Change: Q24L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 4.7e-52 PFAM
Pfam:7TM_GPCR_Srsx 35 305 9.1e-6 PFAM
Pfam:7tm_1 41 290 4.7e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203973
SMART Domains Protein: ENSMUSP00000144895
Gene: ENSMUSG00000046493

DomainStartEndE-ValueType
Pfam:7tm_4 1 122 6.1e-25 PFAM
Pfam:7TM_GPCR_Srx 1 123 7.5e-5 PFAM
Pfam:7TM_GPCR_Srsx 2 123 4.5e-8 PFAM
Pfam:7tm_1 8 123 2.1e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219714
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 G A 10: 80,003,877 V781I probably benign Het
Aldh5a1 G T 13: 24,911,553 probably benign Het
Arhgap12 T C 18: 6,057,576 T435A probably benign Het
Atrnl1 G A 19: 57,699,712 V870I probably benign Het
Cerkl A T 2: 79,343,215 probably null Het
Cntnap2 T A 6: 47,271,371 L13* probably null Het
Cr2 G A 1: 195,168,535 P208S probably damaging Het
Dapk1 A G 13: 60,760,798 D1075G probably benign Het
Dhx57 T A 17: 80,255,610 K863* probably null Het
Dnaaf5 C A 5: 139,151,480 probably null Het
Fbxw7 T A 3: 84,972,499 I336K probably benign Het
Ftcd A G 10: 76,584,587 D385G probably benign Het
Gm10153 T C 7: 142,190,041 S117G unknown Het
Gzmb T C 14: 56,260,315 Y156C probably benign Het
Herc3 T A 6: 58,854,895 D83E probably benign Het
Kif2b A G 11: 91,576,365 V364A probably damaging Het
Mknk2 A G 10: 80,667,664 probably benign Het
Pgm2 A T 4: 99,962,170 N197I possibly damaging Het
Prss39 C T 1: 34,499,400 probably benign Het
Shroom3 T C 5: 92,940,342 V236A probably damaging Het
Slc17a8 C T 10: 89,592,021 probably null Het
Slc24a3 A G 2: 145,613,580 Y463C probably benign Het
Slc4a7 A G 14: 14,737,480 E149G probably damaging Het
Synj1 G A 16: 91,010,172 probably benign Het
Tas2r138 T A 6: 40,612,476 M279L probably benign Het
Terb1 A G 8: 104,482,167 probably benign Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Trmt5 C T 12: 73,281,104 V442I probably benign Het
Tsc2 T C 17: 24,621,097 I383V possibly damaging Het
Uchl4 A G 9: 64,235,716 T160A possibly damaging Het
Vmn2r3 A T 3: 64,274,961 M439K possibly damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Vmn2r52 A T 7: 10,158,941 L757Q probably damaging Het
Zfp518a T C 19: 40,916,031 V1468A probably benign Het
Zxdc A T 6: 90,373,779 E404V probably damaging Het
Other mutations in Olfr1352
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01865:Olfr1352 APN 10 78984678 missense possibly damaging 0.94
R0196:Olfr1352 UTSW 10 78984189 missense possibly damaging 0.89
R0362:Olfr1352 UTSW 10 78984386 missense probably benign 0.00
R1574:Olfr1352 UTSW 10 78983986 missense probably damaging 1.00
R1574:Olfr1352 UTSW 10 78983986 missense probably damaging 1.00
R2982:Olfr1352 UTSW 10 78984440 missense probably damaging 1.00
R4724:Olfr1352 UTSW 10 78984522 missense probably damaging 1.00
R5000:Olfr1352 UTSW 10 78984680 missense probably benign 0.00
R5085:Olfr1352 UTSW 10 78984094 missense probably benign 0.03
R5145:Olfr1352 UTSW 10 78984309 missense probably benign 0.35
R5455:Olfr1352 UTSW 10 78984537 missense possibly damaging 0.59
R5777:Olfr1352 UTSW 10 78984678 missense possibly damaging 0.78
R5822:Olfr1352 UTSW 10 78984189 missense possibly damaging 0.89
R6283:Olfr1352 UTSW 10 78984279 missense probably benign 0.01
R7242:Olfr1352 UTSW 10 78984497 nonsense probably null
R7504:Olfr1352 UTSW 10 78984660 missense possibly damaging 0.78
R8198:Olfr1352 UTSW 10 78984609 missense probably benign 0.03
R8268:Olfr1352 UTSW 10 78983997 missense probably damaging 0.98
R8684:Olfr1352 UTSW 10 78984378 missense probably benign 0.06
Posted On2013-11-18