Incidental Mutation 'PIT4434001:Or51a8'
ID 555059
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # PIT4434001 (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 C at 102549837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 88 (F88L)
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: F88L

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000095817
Gene: ENSMUSG00000073964
AA Change: F88L

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: F88L

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000214160
Predicted Effect probably benign
Transcript: ENSMUST00000215773
Coding Region Coverage
  • 1x: 93.3%
  • 3x: 90.6%
  • 10x: 84.3%
  • 20x: 70.6%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030468B19Rik T A 11: 117,696,869 (GRCm39) D196E probably benign Het
Abcb5 G A 12: 118,854,422 (GRCm39) S831F probably damaging Het
Alg2 C A 4: 47,474,076 (GRCm39) A71S probably benign Het
Ankrd50 T C 3: 38,509,412 (GRCm39) Q62R possibly damaging Het
Ano1 A G 7: 144,164,632 (GRCm39) V664A probably benign Het
Bbox1 A C 2: 110,105,979 (GRCm39) D188E probably benign Het
Bmi1 C T 2: 18,689,042 (GRCm39) T242M probably benign Het
C4bp A G 1: 130,584,947 (GRCm39) F30L probably benign Het
Carmil3 A G 14: 55,732,145 (GRCm39) N214S probably null Het
Cep162 C A 9: 87,075,701 (GRCm39) K1310N probably damaging Het
Cfap74 G A 4: 155,548,421 (GRCm39) V21M unknown Het
Copa A G 1: 171,933,742 (GRCm39) D401G probably benign Het
Cyp4f14 A G 17: 33,125,104 (GRCm39) V439A possibly damaging Het
Ddhd1 A C 14: 45,848,062 (GRCm39) N569K possibly damaging Het
Dennd5a A G 7: 109,532,831 (GRCm39) L313P probably damaging Het
Eri2 A G 7: 119,385,524 (GRCm39) F326L probably benign Het
Fam135a A T 1: 24,068,276 (GRCm39) H864Q probably benign Het
Fat3 C T 9: 15,907,612 (GRCm39) V2797I probably benign Het
Fbn2 T C 18: 58,229,134 (GRCm39) D692G probably damaging Het
Fbxw20 A G 9: 109,052,500 (GRCm39) S278P probably damaging Het
Gna12 A T 5: 140,746,773 (GRCm39) V224E probably damaging Het
Grn C T 11: 102,326,766 (GRCm39) H482Y possibly damaging Het
Igkv7-33 A G 6: 70,035,797 (GRCm39) Y62H possibly damaging Het
Kdm4c A G 4: 74,189,569 (GRCm39) T95A probably benign Het
Lrp3 T C 7: 34,903,420 (GRCm39) T309A probably damaging Het
Map3k2 C A 18: 32,343,088 (GRCm39) D279E possibly damaging Het
Map3k5 T A 10: 19,902,003 (GRCm39) V358E probably damaging Het
Mcpt9 A G 14: 56,266,686 (GRCm39) S14P probably benign Het
Or10b1 T C 10: 78,355,549 (GRCm39) F36L possibly damaging Het
Or52a33 A C 7: 103,289,054 (GRCm39) C98G probably damaging Het
Otud7b G A 3: 96,047,776 (GRCm39) R45H probably damaging Het
Pcdhb17 A G 18: 37,618,704 (GRCm39) N165D probably damaging Het
Pogz A G 3: 94,779,681 (GRCm39) T538A probably damaging Het
Prlr A G 15: 10,328,458 (GRCm39) E311G probably damaging Het
Ptprs T C 17: 56,761,984 (GRCm39) I43V probably null Het
Raet1d A T 10: 22,247,433 (GRCm39) K170* probably null Het
Rufy2 A T 10: 62,826,845 (GRCm39) Q128L possibly damaging Het
Svopl T C 6: 37,991,801 (GRCm39) N360D possibly damaging Het
Syt4 A C 18: 31,573,384 (GRCm39) L377W probably damaging Het
Taar7a A G 10: 23,869,319 (GRCm39) F21L probably benign Het
Tax1bp3 T A 11: 73,071,630 (GRCm39) M78K probably damaging Het
Top2b T C 14: 16,423,780 (GRCm38) probably null Het
Trim52 A T 14: 106,344,732 (GRCm39) D130V probably benign Het
Ttc1 T C 11: 43,635,955 (GRCm39) Y96C probably damaging Het
Vmn2r49 T C 7: 9,710,762 (GRCm39) T657A probably damaging Het
Vps13d A T 4: 144,881,817 (GRCm39) F1259I Het
Zbtb18 A T 1: 177,275,989 (GRCm39) T441S 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
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
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
Predicted Primers PCR Primer
(F):5'- CATTCCTACTGATTGGGATCCC -3'
(R):5'- CAATTTGCACAACCCTGGAGC -3'

Sequencing Primer
(F):5'- GAGCATATGCACATTTGGATTTCC -3'
(R):5'- ACAACCCTGGAGCTTGTGAG -3'
Posted On 2019-06-07