Incidental Mutation 'R7116:Or51a8'
ID 551773
Institutional Source Beutler Lab
Gene Symbol Or51a8
Ensembl Gene ENSMUSG00000073964
Gene Name olfactory receptor family 51 subfamily A member 8
Synonyms Olfr570, MOR8-3, GA_x6K02T2PBJ9-5611412-5612350
MMRRC Submission 045207-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R7116 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102549549-102550593 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102549842 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 89 (N89K)
Ref Sequence ENSEMBL: ENSMUSP00000148181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098215] [ENSMUST00000209778] [ENSMUST00000214160] [ENSMUST00000215773]
AlphaFold Q8VH12
Predicted Effect probably benign
Transcript: ENSMUST00000098215
AA Change: N89K

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000095817
Gene: ENSMUSG00000073964
AA Change: N89K

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 probably benign
Transcript: ENSMUST00000209778
AA Change: N89K

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000214160
Predicted Effect probably benign
Transcript: ENSMUST00000215773
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 A G 12: 80,251,751 (GRCm39) S109P probably damaging Het
Afg3l1 T G 8: 124,216,601 (GRCm39) L280R probably damaging Het
Akap13 T A 7: 75,369,943 (GRCm39) S129T probably benign Het
Ankrd11 A G 8: 123,622,869 (GRCm39) S328P probably damaging Het
Aox3 A T 1: 58,192,689 (GRCm39) E554D probably benign Het
Bcl11a T C 11: 24,113,839 (GRCm39) V394A probably damaging Het
Cass4 A G 2: 172,269,889 (GRCm39) Y657C unknown Het
Ccdc88a C T 11: 29,454,051 (GRCm39) A1738V probably benign Het
Cfap74 T C 4: 155,539,518 (GRCm39) F948L unknown Het
Chgb A T 2: 132,623,237 (GRCm39) probably benign Het
Coro1c C T 5: 113,990,267 (GRCm39) W138* probably null Het
Dgkb A G 12: 38,031,989 (GRCm39) Q17R probably benign Het
Esco2 A G 14: 66,064,006 (GRCm39) Y393H probably damaging Het
Eya3 T A 4: 132,422,110 (GRCm39) D228E probably benign Het
Fat2 T C 11: 55,173,162 (GRCm39) D2517G probably damaging Het
Fry T A 5: 150,319,334 (GRCm39) probably null Het
Gal3st2b A T 1: 93,868,498 (GRCm39) Q243L possibly damaging Het
Gimap9 C T 6: 48,654,989 (GRCm39) A192V probably benign Het
Glg1 T A 8: 111,905,589 (GRCm39) Q564L probably benign Het
H2-Aa A T 17: 34,502,601 (GRCm39) Y188* probably null Het
Hira T C 16: 18,730,864 (GRCm39) Y188H probably damaging Het
Ighv8-8 C T 12: 115,257,814 (GRCm39) D76N probably benign Het
Irf6 T C 1: 192,849,905 (GRCm39) F276L probably damaging Het
Itpr1 T C 6: 108,458,229 (GRCm39) C2000R probably damaging Het
Jakmip3 T C 7: 138,621,979 (GRCm39) V293A possibly damaging Het
Kcnh7 A G 2: 62,707,614 (GRCm39) V132A probably benign Het
Kcnj1 A G 9: 32,308,277 (GRCm39) T234A possibly damaging Het
Kpna3 T A 14: 61,605,635 (GRCm39) N470I probably benign Het
Lamb2 T C 9: 108,364,522 (GRCm39) F1121L probably damaging Het
Lingo1 T C 9: 56,527,911 (GRCm39) D232G probably benign Het
Lpxn T A 19: 12,788,622 (GRCm39) N70K probably benign Het
Ltbp4 T A 7: 27,004,852 (GRCm39) H1657L probably damaging Het
Luzp2 C A 7: 54,915,078 (GRCm39) F334L possibly damaging Het
Mgat5b A T 11: 116,835,785 (GRCm39) S142C possibly damaging Het
Mroh7 G A 4: 106,568,517 (GRCm39) T396I probably benign Het
Muc5b T C 7: 141,417,487 (GRCm39) S3478P probably benign Het
Nfatc2 A T 2: 168,349,269 (GRCm39) M626K probably benign Het
Nlrp14 A G 7: 106,782,255 (GRCm39) D484G possibly damaging Het
Npc1 T C 18: 12,344,601 (GRCm39) Y423C probably damaging Het
Nrsn1 A G 13: 25,437,388 (GRCm39) I180T probably damaging Het
Or11g25 A T 14: 50,723,025 (GRCm39) I37F probably benign Het
Osbpl6 A T 2: 76,426,225 (GRCm39) I935F probably benign Het
Otog T C 7: 45,947,689 (GRCm39) F96L probably damaging Het
Pde1b T C 15: 103,436,745 (GRCm39) L534P possibly damaging Het
Pdzd8 C T 19: 59,288,125 (GRCm39) E1092K probably damaging Het
Pfkl T C 10: 77,837,249 (GRCm39) H108R probably benign Het
Pkhd1l1 G A 15: 44,421,372 (GRCm39) V3047I probably benign Het
Plag1 A T 4: 3,904,812 (GRCm39) C126* probably null Het
Pphln1 T A 15: 93,353,406 (GRCm39) S229T probably benign Het
Pramel5 C T 4: 144,000,451 (GRCm39) D42N possibly damaging Het
Psd3 A G 8: 68,166,390 (GRCm39) V915A probably benign Het
Ptdss1 T A 13: 67,093,391 (GRCm39) I77N probably benign Het
Rsbn1 T A 3: 103,821,892 (GRCm39) C3* probably null Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Sv2c A T 13: 96,113,152 (GRCm39) V599E probably damaging Het
Vmn2r37 T C 7: 9,220,898 (GRCm39) T322A probably benign Het
Vmn2r60 T A 7: 41,786,487 (GRCm39) M430K probably benign Het
Wipf3 T A 6: 54,458,904 (GRCm39) probably null 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
IGL03028:Or51a8 APN 7 102,550,036 (GRCm39) missense possibly damaging 0.81
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
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
Predicted Primers PCR Primer
(F):5'- TGCCTCATGTACCTGACAGC -3'
(R):5'- GTCTCTTTAAAGTGAATGGAAGGG -3'

Sequencing Primer
(F):5'- CTGACAGCTATCCTGGGAAACTG -3'
(R):5'- GCACCAGGAGAATGCTTTTAAC -3'
Posted On 2019-05-15