Incidental Mutation 'R8136:Or51a6'
ID 632260
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 067564-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R8136 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 102603871-102604827 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102604448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 120 (M120K)
Ref Sequence ENSEMBL: ENSMUSP00000149993 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084812] [ENSMUST00000213477] [ENSMUST00000216420]
AlphaFold Q8VH16
Predicted Effect probably damaging
Transcript: ENSMUST00000084812
AA Change: M127K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000081873
Gene: ENSMUSG00000066269
AA Change: M127K

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 damaging
Transcript: ENSMUST00000213477
AA Change: M120K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000216420
AA Change: M120K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.7%
Validation Efficiency 98% (40/41)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,287,556 (GRCm39) M2462L probably benign Het
Aptx A G 4: 40,688,107 (GRCm39) probably null Het
Bmpr1b A G 3: 141,562,143 (GRCm39) I348T probably damaging Het
Btnl1 T A 17: 34,599,014 (GRCm39) probably null Het
Col27a1 T A 4: 63,202,190 (GRCm39) D960E probably benign Het
Crygn G T 5: 24,956,090 (GRCm39) R172S probably benign Het
Cyp26a1 T C 19: 37,689,654 (GRCm39) I450T probably benign Het
Emc2 A G 15: 43,375,202 (GRCm39) Y233C probably benign Het
Esyt2 C A 12: 116,327,079 (GRCm39) T549K probably benign Het
Garin5a T C 7: 44,149,704 (GRCm39) F142L probably damaging Het
Gatm T C 2: 122,426,018 (GRCm39) D411G probably damaging Het
Gpr65 T C 12: 98,241,415 (GRCm39) Y23H probably damaging Het
Itpr1 A G 6: 108,415,321 (GRCm39) R1752G probably benign Het
Krtap4-1 GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC 11: 99,518,660 (GRCm39) probably benign Het
Map3k19 A C 1: 127,751,492 (GRCm39) S620A probably damaging Het
Mcm9 A G 10: 53,487,439 (GRCm39) *543Q probably null Het
Mfsd2a A T 4: 122,845,660 (GRCm39) C164S probably benign Het
Mta1 C A 12: 113,095,298 (GRCm39) R484S probably damaging Het
Nlrp9a T G 7: 26,256,678 (GRCm39) F99V probably benign Het
Notch2 G A 3: 98,031,537 (GRCm39) C1137Y probably damaging Het
Pcnx1 A G 12: 81,964,780 (GRCm39) T316A probably benign Het
Peds1 A C 2: 167,486,879 (GRCm39) Y167D probably benign Het
Phf11a A G 14: 59,515,018 (GRCm39) V221A probably benign Het
Pigb A G 9: 72,929,602 (GRCm39) L327P possibly damaging Het
Rab3c A T 13: 110,317,554 (GRCm39) Y110* probably null Het
Sdk2 G A 11: 113,742,539 (GRCm39) T790M probably damaging Het
Skic3 A G 13: 76,261,222 (GRCm39) K131R probably benign Het
Slc22a2 C T 17: 12,824,917 (GRCm39) P260S probably damaging Het
Sppl2a T C 2: 126,755,201 (GRCm39) probably null Het
Tnn T A 1: 159,934,630 (GRCm39) Q1261L probably damaging Het
Treml4 C A 17: 48,571,745 (GRCm39) Y49* probably null Het
Ubr3 T C 2: 69,851,523 (GRCm39) I1827T probably damaging Het
Vrtn C T 12: 84,696,809 (GRCm39) R520C probably damaging Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Wls C A 3: 159,578,761 (GRCm39) Q108K probably damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp39 A T 11: 58,782,228 (GRCm39) V178D probably damaging Het
Zfp777 C A 6: 48,021,559 (GRCm39) R21L probably benign 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
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
R9671:Or51a6 UTSW 7 102,604,633 (GRCm39) missense probably benign 0.27
Z1177:Or51a6 UTSW 7 102,604,183 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCCAGCTTCATGACATCCTG -3'
(R):5'- AGGACTGAACCCTCACTCCATG -3'

Sequencing Primer
(F):5'- GCTTCATGACATCCTGATGGAGAC -3'
(R):5'- CACTCCATGCTCCCATGTAC -3'
Posted On 2020-06-30