Incidental Mutation 'R9671:Or51a6'
ID 728048
Institutional Source Beutler Lab
Gene Symbol Or51a6
Ensembl Gene ENSMUSG00000066269
Gene Name olfactory receptor family 51 subfamily A member 6
Synonyms GA_x6K02T2PBJ9-5666843-5665908, MOR8-1, Olfr575
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R9671 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 102603871-102604827 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102604633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 58 (H58Q)
Ref Sequence ENSEMBL: ENSMUSP00000149993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084812] [ENSMUST00000213477] [ENSMUST00000216420]
AlphaFold Q8VH16
Predicted Effect probably benign
Transcript: ENSMUST00000084812
AA Change: H65Q

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000081873
Gene: ENSMUSG00000066269
AA Change: H65Q

DomainStartEndE-ValueType
Pfam:7tm_4 40 318 4.6e-112 PFAM
Pfam:7TM_GPCR_Srsx 44 312 2.6e-10 PFAM
Pfam:7tm_1 50 300 6.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213477
AA Change: H58Q

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000216420
AA Change: H58Q

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,055,948 (GRCm39) L228* probably null Het
Acsf2 T C 11: 94,460,802 (GRCm39) D368G probably benign Het
Adat2 T A 10: 13,438,452 (GRCm39) N177K probably damaging Het
Adgrf5 G T 17: 43,760,795 (GRCm39) R830M probably damaging Het
Apoh G A 11: 108,286,792 (GRCm39) W72* probably null Het
Bcl2l12 G T 7: 44,642,301 (GRCm39) P195Q probably damaging Het
Cacna1b T C 2: 24,596,282 (GRCm39) M470V probably benign Het
Ccdc188 A T 16: 18,036,268 (GRCm39) R79* probably null Het
Cd34 T A 1: 194,641,501 (GRCm39) M309K probably damaging Het
Clec4a2 A T 6: 123,101,942 (GRCm39) K32N possibly damaging Het
Csmd3 G T 15: 47,845,299 (GRCm39) P88H Het
Def6 A G 17: 28,438,755 (GRCm39) S154G probably benign Het
Dot1l T C 10: 80,620,613 (GRCm39) L530P probably damaging Het
Fam13a A G 6: 58,951,014 (GRCm39) probably null Het
Fat3 G A 9: 16,286,871 (GRCm39) A884V possibly damaging Het
Frem3 C A 8: 81,339,134 (GRCm39) H476N probably benign Het
Gm3404 T C 5: 146,463,031 (GRCm39) V71A probably benign Het
Hnf4g T G 3: 3,703,273 (GRCm39) S53R probably benign Het
Ighv13-2 T C 12: 114,321,796 (GRCm39) N15D probably benign Het
Jak1 T C 4: 101,034,926 (GRCm39) K339E possibly damaging Het
Klhl35 C G 7: 99,117,702 (GRCm39) P82R probably benign Het
Klhl40 T A 9: 121,607,743 (GRCm39) V301E probably benign Het
Knl1 A T 2: 118,901,089 (GRCm39) N930I probably damaging Het
Ltbp1 A G 17: 75,603,217 (GRCm39) probably null Het
Mapk7 T C 11: 61,382,498 (GRCm39) D68G probably damaging Het
Myo3b A G 2: 70,086,908 (GRCm39) H852R probably damaging Het
Pkd2 A G 5: 104,637,256 (GRCm39) D623G probably damaging Het
Pramel14 A C 4: 143,719,687 (GRCm39) I226S probably benign Het
Rfxank T C 8: 70,588,198 (GRCm39) T118A probably benign Het
Rxrb T A 17: 34,252,020 (GRCm39) probably null Het
Sec14l3 G A 11: 4,025,486 (GRCm39) V337M probably damaging Het
Sema3e A G 5: 14,212,217 (GRCm39) T98A probably benign Het
Ska1 A T 18: 74,333,010 (GRCm39) M136K probably damaging Het
Slc19a3 T C 1: 83,000,297 (GRCm39) D240G probably benign Het
Snph T C 2: 151,436,331 (GRCm39) Y199C probably damaging Het
Sorl1 A T 9: 41,943,077 (GRCm39) I933N possibly damaging Het
Spag16 C A 1: 69,883,495 (GRCm39) H75N probably benign Het
Spice1 C T 16: 44,199,671 (GRCm39) R708C probably benign Het
Tet3 C A 6: 83,381,136 (GRCm39) S344I possibly damaging Het
Trav5-4 A G 14: 53,941,816 (GRCm39) E63G possibly damaging Het
Trp73 G A 4: 154,148,403 (GRCm39) P337L probably benign Het
Ttn A G 2: 76,778,359 (GRCm39) F1343L unknown Het
Vipas39 T C 12: 87,292,985 (GRCm39) H320R probably benign Het
Vmn2r4 T C 3: 64,317,271 (GRCm39) I156V probably benign Het
Wdr81 T C 11: 75,345,189 (GRCm39) D26G probably damaging Het
Zscan4d A T 7: 10,898,945 (GRCm39) F111I probably damaging Het
Other mutations in Or51a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Or51a6 APN 7 102,604,311 (GRCm39) missense probably benign 0.01
IGL02583:Or51a6 APN 7 102,603,918 (GRCm39) missense possibly damaging 0.96
R0003:Or51a6 UTSW 7 102,604,185 (GRCm39) missense probably benign
R1553:Or51a6 UTSW 7 102,604,425 (GRCm39) missense possibly damaging 0.87
R1641:Or51a6 UTSW 7 102,604,175 (GRCm39) missense probably benign 0.07
R1993:Or51a6 UTSW 7 102,603,953 (GRCm39) missense probably damaging 1.00
R4279:Or51a6 UTSW 7 102,604,292 (GRCm39) missense probably benign 0.03
R4905:Or51a6 UTSW 7 102,604,721 (GRCm39) missense probably damaging 0.96
R5992:Or51a6 UTSW 7 102,604,216 (GRCm39) missense probably benign 0.25
R6122:Or51a6 UTSW 7 102,604,737 (GRCm39) missense probably benign
R6122:Or51a6 UTSW 7 102,604,011 (GRCm39) missense probably damaging 0.99
R6391:Or51a6 UTSW 7 102,604,622 (GRCm39) missense possibly damaging 0.66
R6685:Or51a6 UTSW 7 102,604,888 (GRCm39) splice site probably null
R7109:Or51a6 UTSW 7 102,604,460 (GRCm39) missense probably damaging 1.00
R7117:Or51a6 UTSW 7 102,604,185 (GRCm39) missense probably benign
R7901:Or51a6 UTSW 7 102,604,887 (GRCm39) critical splice acceptor site probably null
R8136:Or51a6 UTSW 7 102,604,448 (GRCm39) missense probably damaging 1.00
R8299:Or51a6 UTSW 7 102,604,739 (GRCm39) missense probably damaging 1.00
R9063:Or51a6 UTSW 7 102,604,446 (GRCm39) missense probably benign 0.42
R9523:Or51a6 UTSW 7 102,604,464 (GRCm39) missense probably damaging 1.00
R9655:Or51a6 UTSW 7 102,604,319 (GRCm39) missense probably damaging 0.99
Z1177:Or51a6 UTSW 7 102,604,183 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGAAGCACTGAGGACTCCATG -3'
(R):5'- GAAGTGCCAATTCAGATCTCTAC -3'

Sequencing Primer
(F):5'- TCCATGTCAGTGAAGCCATG -3'
(R):5'- GCCAATTCAGATCTCTACGTAAATGC -3'
Posted On 2022-10-06