Incidental Mutation 'R1553:Or51a6'
ID 170080
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 039592-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # R1553 (G1)
Quality Score 196
Status Not validated
Chromosome 7
Chromosomal Location 102603871-102604827 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102604425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 128 (I128L)
Ref Sequence ENSEMBL: ENSMUSP00000150074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084812] [ENSMUST00000209778] [ENSMUST00000213477] [ENSMUST00000216420]
AlphaFold Q8VH16
Predicted Effect possibly damaging
Transcript: ENSMUST00000084812
AA Change: I135L

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000081873
Gene: ENSMUSG00000066269
AA Change: I135L

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 noncoding transcript
Transcript: ENSMUST00000209778
AA Change: I128L
Predicted Effect possibly damaging
Transcript: ENSMUST00000213477
AA Change: I128L

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216420
AA Change: I128L

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 G T 5: 24,613,748 (GRCm39) A649S probably damaging Het
Adam6a T A 12: 113,508,835 (GRCm39) C403S probably damaging Het
Adgrg3 T C 8: 95,766,896 (GRCm39) F417S possibly damaging Het
Ago1 T C 4: 126,334,194 (GRCm39) E439G probably damaging Het
Alox15 A G 11: 70,240,458 (GRCm39) V241A possibly damaging Het
Arhgap6 A G X: 168,048,480 (GRCm39) H566R probably damaging Het
Asap1 A T 15: 64,024,701 (GRCm39) F345I probably benign Het
Atp1b2 A G 11: 69,493,678 (GRCm39) Y134H probably damaging Het
Atp8b3 G A 10: 80,368,376 (GRCm39) T199M probably damaging Het
Calb1 A T 4: 15,895,656 (GRCm39) S115C probably damaging Het
Ccdc68 A T 18: 70,073,192 (GRCm39) I47F probably damaging Het
Cdc42bpa A T 1: 179,921,540 (GRCm39) N560I probably benign Het
Cdhr3 T C 12: 33,092,370 (GRCm39) D747G probably benign Het
Cdk5rap1 T G 2: 154,194,171 (GRCm39) N378T probably damaging Het
Chil4 T G 3: 106,111,006 (GRCm39) N296T probably benign Het
Cryaa G A 17: 31,898,533 (GRCm39) V87I probably damaging Het
Csk G A 9: 57,538,225 (GRCm39) L28F probably damaging Het
Cspp1 A G 1: 10,156,122 (GRCm39) N444D possibly damaging Het
Cyp2j8 A G 4: 96,363,794 (GRCm39) Y290H probably benign Het
Eps8l1 A T 7: 4,480,448 (GRCm39) D563V probably damaging Het
Fam111a A T 19: 12,564,682 (GRCm39) S144C possibly damaging Het
Fam135a A T 1: 24,060,951 (GRCm39) S1145R probably damaging Het
Fpr2 T A 17: 18,113,856 (GRCm39) V284D possibly damaging Het
Furin A G 7: 80,048,340 (GRCm39) probably null Het
Gatd1 T C 7: 140,989,806 (GRCm39) T135A probably benign Het
Gdf3 A G 6: 122,586,724 (GRCm39) S68P probably benign Het
Gm6871 T C 7: 41,195,822 (GRCm39) H305R probably benign Het
Grip1 A G 10: 119,890,756 (GRCm39) S917G probably damaging Het
Hdac10 T A 15: 89,009,718 (GRCm39) E388V possibly damaging Het
Hectd1 T C 12: 51,820,661 (GRCm39) N1176S probably damaging Het
Hectd4 A G 5: 121,487,322 (GRCm39) D3439G probably benign Het
Kcna4 T C 2: 107,127,032 (GRCm39) Y589H probably benign Het
Kcnk5 A T 14: 20,192,462 (GRCm39) L233Q probably damaging Het
Kcnt1 T C 2: 25,790,397 (GRCm39) I453T probably damaging Het
Kifc3 A G 8: 95,833,170 (GRCm39) I440T possibly damaging Het
Krt10 C A 11: 99,276,806 (GRCm39) G40* probably null Het
Lce1i A T 3: 92,685,102 (GRCm39) C25S unknown Het
Met A G 6: 17,491,460 (GRCm39) N74S probably benign Het
Naa35 G A 13: 59,766,093 (GRCm39) probably null Het
Naalad2 T C 9: 18,289,965 (GRCm39) N221S probably benign Het
Nolc1 AGCG AGCGGCG 19: 46,069,814 (GRCm39) probably benign Het
Nsmf T C 2: 24,950,271 (GRCm39) V181A probably damaging Het
Nwd2 T A 5: 63,957,848 (GRCm39) S393T probably benign Het
Or12j3 T A 7: 139,952,951 (GRCm39) T191S probably damaging Het
Or2d3c A T 7: 106,526,201 (GRCm39) V155E possibly damaging Het
Papola T A 12: 105,786,669 (GRCm39) S453R probably benign Het
Paqr9 A G 9: 95,442,262 (GRCm39) N84S probably damaging Het
Pde5a T C 3: 122,572,585 (GRCm39) V290A probably benign Het
Prf1 T C 10: 61,138,948 (GRCm39) V302A probably damaging Het
Psg18 T C 7: 18,087,406 (GRCm39) Y84C probably benign Het
Rasgrf2 C T 13: 92,038,783 (GRCm39) R1021H probably damaging Het
Rnf114 G T 2: 167,354,522 (GRCm39) R201L possibly damaging Het
Rp1l1 A G 14: 64,269,343 (GRCm39) E1643G probably benign Het
Scg3 T A 9: 75,576,586 (GRCm39) E263V probably null Het
Scn2a C T 2: 65,544,180 (GRCm39) R854* probably null Het
Setdb2 T C 14: 59,654,934 (GRCm39) K319E probably benign Het
Stub1 A T 17: 26,051,097 (GRCm39) V95E probably damaging Het
Tas2r140 T A 6: 133,032,471 (GRCm39) N96Y probably damaging Het
Tecta T A 9: 42,259,482 (GRCm39) D1467V probably damaging Het
Tenm3 T A 8: 48,689,456 (GRCm39) T2044S probably damaging Het
Tlr2 T A 3: 83,744,770 (GRCm39) M438L probably benign Het
Tmem179 T C 12: 112,471,094 (GRCm39) Y106C probably benign Het
Tspan7 A G X: 10,451,854 (GRCm39) H187R probably benign Het
Ttn T C 2: 76,757,619 (GRCm39) D3332G probably damaging Het
Upp2 T C 2: 58,680,152 (GRCm39) F326S probably damaging Het
Usp2 T A 9: 44,003,452 (GRCm39) D224E probably damaging Het
Vmn1r5 T A 6: 56,962,483 (GRCm39) F53I probably benign Het
Wapl T A 14: 34,451,147 (GRCm39) L727H probably damaging Het
Wipf1 T C 2: 73,267,870 (GRCm39) D176G possibly damaging Het
Xpnpep1 G T 19: 52,994,769 (GRCm39) D243E probably benign Het
Zfp616 A T 11: 73,974,744 (GRCm39) I429F possibly damaging Het
Zfyve26 G A 12: 79,334,535 (GRCm39) P161L 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
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
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'- AGCAGGCCAGCTTCATGACATC -3'
(R):5'- TGTGATCAGGACTGAACCCTCACTC -3'

Sequencing Primer
(F):5'- CTTCATGACATCCTGATGGAGAC -3'
(R):5'- GACTGAACCCTCACTCCATGC -3'
Posted On 2014-04-13