Incidental Mutation 'IGL03028:Or51a8'
ID 408272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51a8
Ensembl Gene ENSMUSG00000073964
Gene Name olfactory receptor family 51 subfamily A member 8
Synonyms Olfr570, MOR8-3, GA_x6K02T2PBJ9-5611412-5612350
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL03028
Quality Score
Status
Chromosome 7
Chromosomal Location 102549549-102550593 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102550036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 154 (I154N)
Ref Sequence ENSEMBL: ENSMUSP00000148181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098215] [ENSMUST00000209778] [ENSMUST00000214160] [ENSMUST00000215773]
AlphaFold Q8VH12
Predicted Effect possibly damaging
Transcript: ENSMUST00000098215
AA Change: I154N

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000095817
Gene: ENSMUSG00000073964
AA Change: I154N

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 6.9e-113 PFAM
Pfam:7TM_GPCR_Srsx 36 174 7.5e-11 PFAM
Pfam:7tm_1 42 292 2.1e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000209778
AA Change: I154N

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000214160
Predicted Effect probably benign
Transcript: ENSMUST00000215773
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A C 9: 53,506,062 (GRCm39) V86G probably benign Het
Adgra3 A T 5: 50,174,194 (GRCm39) W115R probably benign Het
Ahr G A 12: 35,554,709 (GRCm39) A470V probably benign Het
Aoah A T 13: 21,000,752 (GRCm39) Q62L possibly damaging Het
Arhgef12 A T 9: 42,937,524 (GRCm39) D100E possibly damaging Het
Asic1 A G 15: 99,570,038 (GRCm39) N120D probably benign Het
Atp2b2 A G 6: 113,736,103 (GRCm39) L988P probably damaging Het
Atxn2 T A 5: 121,948,972 (GRCm39) H789Q probably damaging Het
Clk1 G T 1: 58,460,261 (GRCm39) S123* probably null Het
Col10a1 C T 10: 34,271,012 (GRCm39) A328V probably benign Het
Col26a1 G T 5: 136,771,972 (GRCm39) D415E possibly damaging Het
Ctla2a A G 13: 61,083,273 (GRCm39) probably benign Het
Cwf19l2 A G 9: 3,430,622 (GRCm39) E318G probably benign Het
Dnajc16 C T 4: 141,495,043 (GRCm39) W523* probably null Het
Ehhadh T C 16: 21,581,144 (GRCm39) E616G probably damaging Het
F5 A T 1: 164,020,569 (GRCm39) K1015* probably null Het
Fam78a A G 2: 31,972,894 (GRCm39) W9R possibly damaging Het
Frs2 A T 10: 116,909,838 (GRCm39) M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 (GRCm38) M200L probably benign Het
Gm44511 T C 6: 128,757,358 (GRCm39) S179G probably damaging Het
Gpr25 G A 1: 136,188,550 (GRCm39) S21L probably benign Het
Hsdl2 A G 4: 59,594,471 (GRCm39) D34G probably damaging Het
Kcnt1 A G 2: 25,799,215 (GRCm39) probably null Het
Kl A G 5: 150,915,015 (GRCm39) Y914C probably damaging Het
Map3k3 T G 11: 106,001,577 (GRCm39) V45G probably damaging Het
Mppe1 A C 18: 67,360,755 (GRCm39) C261W probably damaging Het
Nin T C 12: 70,082,044 (GRCm39) T1640A probably benign Het
Or51ac3 A G 7: 103,213,796 (GRCm39) probably null Het
Or5c1 C T 2: 37,221,968 (GRCm39) L70F probably damaging Het
Or5p59 T A 7: 107,703,380 (GRCm39) M288K probably damaging Het
Or7g26 A T 9: 19,230,664 (GRCm39) Y284F probably damaging Het
Oxr1 A G 15: 41,680,559 (GRCm39) N166D probably damaging Het
Pank4 T A 4: 155,054,442 (GRCm39) probably benign Het
Pgd A G 4: 149,246,084 (GRCm39) probably null Het
Pitrm1 C T 13: 6,624,429 (GRCm39) H831Y probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Rad51 A C 2: 118,946,795 (GRCm39) M1L possibly damaging Het
Recql5 G T 11: 115,785,257 (GRCm39) S746R possibly damaging Het
Rhbdl3 C T 11: 80,214,287 (GRCm39) Q133* probably null Het
Rpp40 A T 13: 36,088,494 (GRCm39) L59Q probably damaging Het
Rtca C A 3: 116,286,741 (GRCm39) probably benign Het
Rtkn C T 6: 83,124,853 (GRCm39) Q108* probably null Het
Shoc1 A C 4: 59,094,274 (GRCm39) I150S possibly damaging Het
Sirt6 C T 10: 81,463,375 (GRCm39) probably benign Het
Slc9a4 G A 1: 40,649,537 (GRCm39) V517M probably benign Het
Smarca2 G T 19: 26,655,712 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,735 (GRCm39) D111E probably benign Het
Tgfb1 T C 7: 25,403,621 (GRCm39) I311T probably damaging Het
Tgfb2 C T 1: 186,362,806 (GRCm39) probably null Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tnfsf4 T C 1: 161,223,213 (GRCm39) F21L possibly damaging Het
Ubr5 T C 15: 38,047,837 (GRCm39) T47A probably benign Het
Unc79 T C 12: 103,139,785 (GRCm39) V2515A possibly damaging Het
Utp6 T C 11: 79,844,450 (GRCm39) K192E probably damaging Het
Vmn2r102 T C 17: 19,914,328 (GRCm39) F631S possibly damaging Het
Zfp516 A C 18: 82,974,038 (GRCm39) I79L possibly damaging Het
Other mutations in Or51a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01656:Or51a8 APN 7 102,550,472 (GRCm39) missense possibly damaging 0.96
IGL02307:Or51a8 APN 7 102,550,086 (GRCm39) missense probably benign 0.00
IGL02705:Or51a8 APN 7 102,550,449 (GRCm39) missense probably damaging 1.00
IGL03086:Or51a8 APN 7 102,549,613 (GRCm39) missense probably damaging 1.00
PIT4434001:Or51a8 UTSW 7 102,549,837 (GRCm39) missense probably benign 0.12
R1155:Or51a8 UTSW 7 102,549,819 (GRCm39) missense probably benign 0.00
R6603:Or51a8 UTSW 7 102,549,621 (GRCm39) missense probably benign 0.01
R7116:Or51a8 UTSW 7 102,549,842 (GRCm39) missense probably benign 0.20
R7329:Or51a8 UTSW 7 102,550,039 (GRCm39) missense probably damaging 0.97
R7471:Or51a8 UTSW 7 102,549,760 (GRCm39) missense probably benign 0.10
R8020:Or51a8 UTSW 7 102,550,472 (GRCm39) missense possibly damaging 0.96
R9649:Or51a8 UTSW 7 102,549,652 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02