Incidental Mutation 'IGL01546:Olfr592'
ID90327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr592
Ensembl Gene ENSMUSG00000073956
Gene Nameolfactory receptor 592
SynonymsMOR0-3P, MOR32-13, GA_x6K02T2PBJ9-5902266-5903204, Olfr1525-ps1, MOR0-3P
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.154) question?
Stock #IGL01546
Quality Score
Status
Chromosome7
Chromosomal Location103184803-103192965 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 103187410 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 270 (I270F)
Ref Sequence ENSEMBL: ENSMUSP00000153755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098207] [ENSMUST00000106893] [ENSMUST00000218618]
Predicted Effect probably damaging
Transcript: ENSMUST00000098207
AA Change: I270F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095808
Gene: ENSMUSG00000073956
AA Change: I270F

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 38 309 1.4e-6 PFAM
Pfam:7tm_1 44 294 2.6e-26 PFAM
Pfam:7tm_4 141 287 2.3e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106893
AA Change: I270F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102506
Gene: ENSMUSG00000073956
AA Change: I270F

DomainStartEndE-ValueType
Pfam:7tm_4 34 312 6.9e-112 PFAM
Pfam:7TM_GPCR_Srsx 38 309 1.4e-6 PFAM
Pfam:7tm_1 44 294 1.3e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000218618
AA Change: I270F

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016D06Rik T A 8: 11,656,136 M133L probably benign Het
Amdhd2 C A 17: 24,163,600 R22L probably benign Het
Arg2 T C 12: 79,149,859 probably benign Het
Catip T C 1: 74,362,795 L43P probably damaging Het
Ccdc30 A C 4: 119,398,188 L123R probably damaging Het
Cep89 T C 7: 35,420,900 L369P probably damaging Het
Dolpp1 T C 2: 30,397,095 F180L probably damaging Het
Kctd19 T C 8: 105,386,962 H670R probably benign Het
Kntc1 T A 5: 123,765,005 I315N probably benign Het
Mfsd4b2 A T 10: 39,921,475 W295R probably damaging Het
Mgam A G 6: 40,654,693 T116A probably damaging Het
Mn1 A T 5: 111,421,248 D1028V probably damaging Het
Olfr19 A G 16: 16,673,265 S239P probably damaging Het
Olfr23 G A 11: 73,941,194 G316D probably benign Het
Olfr690 T C 7: 105,329,692 R167G probably damaging Het
Olfr694 A G 7: 106,689,531 S67P probably damaging Het
Olfr845 T G 9: 19,338,772 V104G possibly damaging Het
Phc3 C A 3: 30,961,739 A108S probably damaging Het
Pkhd1l1 A G 15: 44,566,316 Y3310C probably damaging Het
Ppp4r3b T C 11: 29,209,488 probably null Het
Slx4ip A G 2: 137,066,199 T159A probably benign Het
Sos1 T A 17: 80,408,611 Y974F probably damaging Het
Taar8a A T 10: 24,076,915 Y139F possibly damaging Het
Vcam1 A G 3: 116,115,942 C579R possibly damaging Het
Zdhhc17 C T 10: 110,946,193 V547M probably damaging Het
Other mutations in Olfr592
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01650:Olfr592 APN 7 103187079 missense probably benign 0.01
IGL02682:Olfr592 APN 7 103187014 missense probably damaging 0.99
R0925:Olfr592 UTSW 7 103186823 nonsense probably null
R1543:Olfr592 UTSW 7 103187214 missense probably benign 0.26
R1761:Olfr592 UTSW 7 103187118 missense probably damaging 1.00
R2017:Olfr592 UTSW 7 103186930 missense probably benign 0.00
R2152:Olfr592 UTSW 7 103186640 missense probably benign
R4678:Olfr592 UTSW 7 103186891 missense probably damaging 0.97
R4679:Olfr592 UTSW 7 103187102 missense probably benign 0.05
R5177:Olfr592 UTSW 7 103187503 missense probably benign 0.11
R5986:Olfr592 UTSW 7 103187528 missense possibly damaging 0.87
R6808:Olfr592 UTSW 7 103187304 missense probably benign 0.18
R7400:Olfr592 UTSW 7 103187380 missense probably damaging 1.00
RF005:Olfr592 UTSW 7 103186691 missense possibly damaging 0.94
Posted On2013-12-03