Incidental Mutation 'R4342:Or51a7'
ID 324174
Institutional Source Beutler Lab
Gene Symbol Or51a7
Ensembl Gene ENSMUSG00000073962
Gene Name olfactory receptor family 51 subfamily A member 7
Synonyms GA_x6K02T2PBJ9-5676385-5677371, MOR8-5, Olfr576
MMRRC Submission 041100-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R4342 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102614309-102615247 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102615231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 308 (N308S)
Ref Sequence ENSEMBL: ENSMUSP00000143172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098213] [ENSMUST00000185326]
AlphaFold A0A0G2JFH3
Predicted Effect probably benign
Transcript: ENSMUST00000098213
AA Change: N308S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000143172
Gene: ENSMUSG00000073962
AA Change: N308S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 301 6.2e-12 PFAM
Pfam:7tm_1 41 291 2.5e-29 PFAM
Pfam:7tm_4 140 284 3.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185326
SMART Domains Protein: ENSMUSP00000142459
Gene: ENSMUSG00000073962

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 300 9.7e-12 PFAM
Pfam:7tm_1 41 291 1.8e-29 PFAM
Pfam:7tm_4 140 284 2.6e-28 PFAM
Meta Mutation Damage Score 0.0732 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 99% (68/69)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 T C 17: 45,827,421 (GRCm39) C488R probably benign Het
Adamts19 A T 18: 59,075,572 (GRCm39) H489L probably damaging Het
Ahnak T C 19: 8,989,447 (GRCm39) V3577A possibly damaging Het
Ajm1 A G 2: 25,469,120 (GRCm39) Y264H possibly damaging Het
Arhgap44 G A 11: 64,902,887 (GRCm39) R401* probably null Het
Cbx3-ps2 T C 13: 65,707,502 (GRCm39) noncoding transcript Het
Ccdc174 T A 6: 91,862,337 (GRCm39) L86* probably null Het
Cd38 A C 5: 44,026,431 (GRCm39) I72L probably benign Het
Cers4 T C 8: 4,571,223 (GRCm39) L264P probably damaging Het
Cldn23 A G 8: 36,292,652 (GRCm39) S279P probably benign Het
Cth T A 3: 157,630,613 (GRCm39) T19S probably damaging Het
Dnajc22 T A 15: 99,002,345 (GRCm39) L330* probably null Het
Epas1 G A 17: 87,131,228 (GRCm39) C336Y probably damaging Het
Evi5l A C 8: 4,233,492 (GRCm39) probably benign Het
Fbxl2 A T 9: 113,814,374 (GRCm39) H272Q probably benign Het
Fgd3 C T 13: 49,427,185 (GRCm39) probably null Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Fscn1 T C 5: 142,957,776 (GRCm39) Y308H probably damaging Het
Garin3 A G 11: 46,298,043 (GRCm39) D449G possibly damaging Het
Gm5878 G A 6: 85,102,633 (GRCm39) R31* probably null Het
Gpatch2l T C 12: 86,307,453 (GRCm39) V277A probably benign Het
Greb1l T A 18: 10,544,561 (GRCm39) M1385K probably benign Het
Grin2a A G 16: 9,471,453 (GRCm39) I605T possibly damaging Het
Hoxc11 C T 15: 102,863,106 (GRCm39) S49F probably damaging Het
Igf2r C T 17: 12,928,398 (GRCm39) E982K possibly damaging Het
Ighv10-3 A T 12: 114,487,124 (GRCm39) M99K possibly damaging Het
Itgb4 A T 11: 115,879,555 (GRCm39) T614S probably benign Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Mast4 A G 13: 102,910,756 (GRCm39) V461A probably damaging Het
Mcts2 G A 2: 152,529,584 (GRCm39) V132M probably damaging Het
Mical3 C A 6: 120,911,799 (GRCm39) E1083* probably null Het
Nbeal2 A G 9: 110,460,861 (GRCm39) probably benign Het
Nek4 T C 14: 30,675,863 (GRCm39) V66A probably damaging Het
Nfasc A G 1: 132,559,443 (GRCm39) F229S probably damaging Het
Nhsl1 T C 10: 18,402,437 (GRCm39) F1221S probably damaging Het
Nr1d1 T G 11: 98,662,640 (GRCm39) K118Q probably damaging Het
Ntaq1 T C 15: 58,016,110 (GRCm39) S120P probably benign Het
Ntm T C 9: 29,020,727 (GRCm39) E164G probably damaging Het
Parp1 G T 1: 180,414,894 (GRCm39) A411S probably benign Het
Pds5b A G 5: 150,724,319 (GRCm39) T1301A probably benign Het
Pkhd1 A G 1: 20,128,841 (GRCm39) V3954A probably benign Het
Pkp4 A T 2: 59,180,952 (GRCm39) K739I probably damaging Het
Pla2g4e T C 2: 120,016,927 (GRCm39) probably benign Het
Plod3 G C 5: 137,017,000 (GRCm39) A50P probably benign Het
Ralgds T C 2: 28,442,107 (GRCm39) L96P probably damaging Het
Rbm6 A T 9: 107,724,446 (GRCm39) probably benign Het
Scp2d1 T C 2: 144,666,087 (GRCm39) L142P probably damaging Het
Setd5 AT ATT 6: 113,088,281 (GRCm39) probably benign Het
Sgf29 G A 7: 126,270,949 (GRCm39) C143Y probably damaging Het
Slc22a12 A G 19: 6,591,129 (GRCm39) I156T probably benign Het
Stambpl1 A G 19: 34,211,446 (GRCm39) Q169R probably benign Het
Tex2 T C 11: 106,457,832 (GRCm39) probably benign Het
Trip11 A T 12: 101,850,575 (GRCm39) I878N probably damaging Het
Ttf1 C T 2: 28,955,488 (GRCm39) S284L probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ugt2b5 A T 5: 87,287,582 (GRCm39) V195E probably damaging Het
Vmn1r14 T A 6: 57,210,808 (GRCm39) Y85N probably benign Het
Zfp131 C T 13: 120,237,554 (GRCm39) R268H probably damaging Het
Other mutations in Or51a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Or51a7 APN 7 102,615,235 (GRCm39) splice site probably benign
IGL01695:Or51a7 APN 7 102,614,790 (GRCm39) missense probably damaging 0.97
IGL01707:Or51a7 APN 7 102,615,126 (GRCm39) missense probably damaging 0.97
IGL02637:Or51a7 APN 7 102,622,250 (GRCm39) utr 3 prime probably benign
R1636:Or51a7 UTSW 7 102,614,898 (GRCm39) missense possibly damaging 0.94
R3077:Or51a7 UTSW 7 102,615,223 (GRCm39) missense probably benign 0.06
R3079:Or51a7 UTSW 7 102,622,254 (GRCm39) splice site probably null
R3803:Or51a7 UTSW 7 102,615,228 (GRCm39) critical splice donor site probably null
R4866:Or51a7 UTSW 7 102,614,927 (GRCm39) missense probably benign 0.01
R5193:Or51a7 UTSW 7 102,615,143 (GRCm39) missense possibly damaging 0.52
R5194:Or51a7 UTSW 7 102,615,071 (GRCm39) missense probably benign 0.01
R9002:Or51a7 UTSW 7 102,614,618 (GRCm39) missense probably damaging 1.00
R9590:Or51a7 UTSW 7 102,614,553 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AAGGCTCTAAATACCTGTGTCTCC -3'
(R):5'- CAATTACTGCAAATGTTCTCAACCC -3'

Sequencing Primer
(F):5'- ACATCTGTGCTGTGCTCATC -3'
(R):5'- GCAAATGTTCTCAACCCGATTATAAG -3'
Posted On 2015-06-24