Incidental Mutation 'IGL02682:Olfr592'
ID303386
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: 0.074) question?
Stock #IGL02682
Quality Score
Status
Chromosome7
Chromosomal Location103184803-103192965 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 103187014 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 138 (I138F)
Ref Sequence ENSEMBL: ENSMUSP00000153755 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098207] [ENSMUST00000106893] [ENSMUST00000218618]
Predicted Effect probably damaging
Transcript: ENSMUST00000098207
AA Change: I138F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095808
Gene: ENSMUSG00000073956
AA Change: I138F

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: I138F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102506
Gene: ENSMUSG00000073956
AA Change: I138F

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: I138F

PolyPhen 2 Score 0.990 (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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,477,811 S113P probably benign Het
Arhgdib A T 6: 136,924,168 W188R probably damaging Het
Bcr T A 10: 75,166,046 N927K possibly damaging Het
Cd209c A G 8: 3,940,324 Y165H probably damaging Het
Cnnm2 A G 19: 46,762,076 K102E probably benign Het
Col12a1 T C 9: 79,699,341 E600G probably damaging Het
Ddx4 A T 13: 112,622,186 H280Q probably benign Het
Eya4 T C 10: 23,116,600 Y462C probably damaging Het
Fibcd1 T A 2: 31,838,564 I94F probably damaging Het
Gm4846 C A 1: 166,494,626 G124V probably damaging Het
Gm5624 A G 14: 44,560,012 I108T possibly damaging Het
Gpr179 A T 11: 97,351,865 M51K probably benign Het
Hck A G 2: 153,134,134 I198V probably damaging Het
Kcnd2 T A 6: 21,216,925 C209* probably null Het
Klhl1 T A 14: 96,201,342 I507F possibly damaging Het
Knl1 A T 2: 119,077,969 K1693N possibly damaging Het
Mcam T C 9: 44,140,417 V490A possibly damaging Het
Mrgprx1 A T 7: 48,021,992 D2E probably damaging Het
Mtg1 T C 7: 140,144,729 probably benign Het
Myof C A 19: 37,921,481 R1512L probably benign Het
Nrp2 C T 1: 62,771,837 T679I probably benign Het
Nwd2 C A 5: 63,804,677 L535I probably benign Het
Nwd2 T A 5: 63,804,678 L535H probably damaging Het
Olfr1307 T A 2: 111,944,940 N172I probably damaging Het
Olfr1442 T C 19: 12,674,669 S155P probably damaging Het
Phkb A G 8: 85,875,646 *41W probably null Het
Prl5a1 T A 13: 28,145,420 N27K probably benign Het
Rims1 T C 1: 22,288,484 T1292A probably damaging Het
Rnf38 G A 4: 44,133,745 A376V probably damaging Het
Slc34a2 T C 5: 53,059,238 V117A possibly damaging Het
Slfn8 A T 11: 83,003,691 F707L probably damaging Het
Snx16 G A 3: 10,438,175 P4L probably damaging Het
Snx6 T C 12: 54,754,345 D289G probably damaging Het
St8sia3 G T 18: 64,269,679 V130F probably damaging Het
U2surp A G 9: 95,481,651 probably null Het
Ubqln3 A G 7: 104,142,065 F273L probably benign Het
Vmn2r101 A T 17: 19,612,245 R834S possibly damaging Het
Vmn2r18 G T 5: 151,584,637 H341N probably damaging Het
Vrk3 A G 7: 44,753,820 I2V probably benign Het
Zglp1 A G 9: 21,066,238 S94P probably benign Het
Other mutations in Olfr592
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Olfr592 APN 7 103187410 missense probably damaging 0.99
IGL01650:Olfr592 APN 7 103187079 missense probably benign 0.01
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 On2015-04-16