Incidental Mutation 'R2212:Or51q1'
ID 239450
Institutional Source Beutler Lab
Gene Symbol Or51q1
Ensembl Gene ENSMUSG00000094520
Gene Name olfactory receptor family 51 subfamily Q member 1
Synonyms Olfr635, GA_x6K02T2PBJ9-6713641-6714588, MOR5-2
MMRRC Submission 040214-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # R2212 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 103628383-103629348 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 103628609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 76 (L76P)
Ref Sequence ENSEMBL: ENSMUSP00000095788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098185] [ENSMUST00000209473]
AlphaFold K7N6B1
Predicted Effect probably damaging
Transcript: ENSMUST00000098185
AA Change: L76P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000095788
Gene: ENSMUSG00000094520
AA Change: L76P

DomainStartEndE-ValueType
Pfam:7tm_4 39 318 1.2e-119 PFAM
Pfam:7TM_GPCR_Srsx 43 182 1.3e-9 PFAM
Pfam:7tm_1 49 300 1.9e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121874
Predicted Effect probably damaging
Transcript: ENSMUST00000209473
AA Change: L70P

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.2351 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,603,977 (GRCm39) Y6C probably damaging Het
3425401B19Rik T A 14: 32,383,559 (GRCm39) Q802L probably benign Het
Adarb2 T C 13: 8,802,654 (GRCm39) F643S probably damaging Het
Angptl4 A G 17: 33,994,392 (GRCm39) I401T probably damaging Het
Ap2a2 T A 7: 141,178,689 (GRCm39) N105K probably benign Het
Atp8b4 C A 2: 126,217,677 (GRCm39) W613L probably damaging Het
Cibar1 A G 4: 12,171,696 (GRCm39) probably null Het
Coq10a A G 10: 128,200,998 (GRCm39) V93A possibly damaging Het
Cyp4f39 A T 17: 32,706,037 (GRCm39) E376V possibly damaging Het
Deup1 A T 9: 15,511,139 (GRCm39) D213E probably benign Het
Ehmt2 A G 17: 35,118,341 (GRCm39) S39G probably benign Het
Eya1 T A 1: 14,344,433 (GRCm39) probably null Het
Fcna G C 2: 25,517,505 (GRCm39) P49A probably damaging Het
Flnb AAGGAG AAG 14: 7,881,652 (GRCm38) probably benign Het
Fscn2 G T 11: 120,252,417 (GRCm39) probably benign Het
Gckr T A 5: 31,458,211 (GRCm39) probably null Het
Golgb1 A G 16: 36,707,709 (GRCm39) K68E probably damaging Het
H2-M11 G A 17: 36,859,822 (GRCm39) V272M probably damaging Het
Hace1 T A 10: 45,524,771 (GRCm39) D234E possibly damaging Het
Il18r1 A T 1: 40,530,227 (GRCm39) D318V probably damaging Het
Il4i1 T C 7: 44,486,082 (GRCm39) L22P probably damaging Het
Kcnq3 A T 15: 65,892,142 (GRCm39) F411Y probably benign Het
Kcnt2 A G 1: 140,458,538 (GRCm39) Y775C probably damaging Het
Krt84 A C 15: 101,440,973 (GRCm39) V73G probably benign Het
Lcp2 A C 11: 34,020,995 (GRCm39) D117A probably benign Het
Lemd1 C A 1: 132,156,024 (GRCm39) T22K probably benign Het
Mdm4 T C 1: 132,922,260 (GRCm39) D294G probably damaging Het
Mep1a G A 17: 43,788,154 (GRCm39) A634V probably benign Het
Myh15 A G 16: 48,959,095 (GRCm39) D989G probably benign Het
Myo1g G T 11: 6,467,870 (GRCm39) H188Q possibly damaging Het
Nsmaf C A 4: 6,396,732 (GRCm39) L918F probably damaging Het
Or10d4 T A 9: 39,580,524 (GRCm39) M57K probably damaging Het
Or2v2 C T 11: 49,004,043 (GRCm39) C170Y probably damaging Het
Or51f5 T C 7: 102,423,962 (GRCm39) L77P possibly damaging Het
Pfkfb2 A T 1: 130,635,269 (GRCm39) N97K probably damaging Het
Phlda1 A T 10: 111,343,029 (GRCm39) E255V probably damaging Het
Pla2g4f T C 2: 120,133,587 (GRCm39) S579G probably benign Het
Plcz1 C T 6: 139,947,807 (GRCm39) R525Q probably damaging Het
Ppargc1b G A 18: 61,444,291 (GRCm39) Q291* probably null Het
Ppef2 T G 5: 92,376,581 (GRCm39) S649R probably damaging Het
Ppp1r3b A G 8: 35,851,379 (GRCm39) T73A possibly damaging Het
Prss43 G C 9: 110,658,532 (GRCm39) Q277H probably damaging Het
Rusc2 T G 4: 43,415,935 (GRCm39) S414A probably damaging Het
Serpina3j G A 12: 104,280,985 (GRCm39) D53N probably damaging Het
Sez6l A G 5: 112,623,227 (GRCm39) L108P possibly damaging Het
Slc1a7 A G 4: 107,868,191 (GRCm39) E497G probably benign Het
Spag8 T A 4: 43,651,606 (GRCm39) S423C probably damaging Het
Spata13 A G 14: 60,944,172 (GRCm39) T522A probably benign Het
Spryd3 A G 15: 102,038,711 (GRCm39) probably null Het
Sry T A Y: 2,663,339 (GRCm39) N107I probably damaging Het
St6galnac1 A G 11: 116,656,682 (GRCm39) W486R probably damaging Het
Syt1 G T 10: 108,340,275 (GRCm39) P348T possibly damaging Het
Taok2 T C 7: 126,470,030 (GRCm39) I933V possibly damaging Het
Tex9 C A 9: 72,385,040 (GRCm39) Q265H possibly damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Trim59 T C 3: 68,944,876 (GRCm39) T155A probably benign Het
Trim69 T C 2: 122,009,125 (GRCm39) V395A probably benign Het
Tusc1 C A 4: 93,223,173 (GRCm39) R162L probably damaging Het
Ubash3a A T 17: 31,437,008 (GRCm39) Q208H probably damaging Het
Ubn2 A G 6: 38,475,674 (GRCm39) T1211A probably benign Het
Vmn2r110 A T 17: 20,794,209 (GRCm39) probably null Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Zfyve28 C T 5: 34,357,028 (GRCm39) M723I probably benign Het
Zmynd8 A T 2: 165,657,371 (GRCm39) M533K probably damaging Het
Other mutations in Or51q1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Or51q1 APN 7 103,628,999 (GRCm39) missense probably benign 0.09
IGL01330:Or51q1 APN 7 103,629,349 (GRCm39) utr 3 prime probably benign
IGL01433:Or51q1 APN 7 103,628,539 (GRCm39) missense probably damaging 1.00
FR4304:Or51q1 UTSW 7 103,629,110 (GRCm39) frame shift probably null
FR4340:Or51q1 UTSW 7 103,629,110 (GRCm39) frame shift probably null
FR4342:Or51q1 UTSW 7 103,629,110 (GRCm39) frame shift probably null
R0271:Or51q1 UTSW 7 103,628,837 (GRCm39) missense possibly damaging 0.83
R1909:Or51q1 UTSW 7 103,628,997 (GRCm39) nonsense probably null
R2484:Or51q1 UTSW 7 103,628,545 (GRCm39) missense probably benign
R3412:Or51q1 UTSW 7 103,628,609 (GRCm39) missense probably damaging 0.98
R4513:Or51q1 UTSW 7 103,628,648 (GRCm39) missense probably benign 0.03
R4559:Or51q1 UTSW 7 103,628,767 (GRCm39) missense probably damaging 1.00
R5032:Or51q1 UTSW 7 103,628,581 (GRCm39) missense probably damaging 0.98
R5436:Or51q1 UTSW 7 103,628,473 (GRCm39) missense probably benign
R5591:Or51q1 UTSW 7 103,629,320 (GRCm39) missense probably benign 0.00
R5617:Or51q1 UTSW 7 103,628,921 (GRCm39) missense possibly damaging 0.91
R5911:Or51q1 UTSW 7 103,628,915 (GRCm39) missense probably benign
R6249:Or51q1 UTSW 7 103,628,818 (GRCm39) missense possibly damaging 0.85
R6275:Or51q1 UTSW 7 103,629,181 (GRCm39) missense probably damaging 1.00
R6806:Or51q1 UTSW 7 103,628,771 (GRCm39) missense possibly damaging 0.72
R7589:Or51q1 UTSW 7 103,628,998 (GRCm39) missense probably damaging 1.00
R8188:Or51q1 UTSW 7 103,628,743 (GRCm39) missense probably damaging 1.00
R8337:Or51q1 UTSW 7 103,628,581 (GRCm39) missense probably damaging 0.98
R9106:Or51q1 UTSW 7 103,628,581 (GRCm39) missense probably damaging 0.98
R9507:Or51q1 UTSW 7 103,629,198 (GRCm39) missense probably damaging 1.00
R9592:Or51q1 UTSW 7 103,629,179 (GRCm39) missense possibly damaging 0.54
RF004:Or51q1 UTSW 7 103,629,110 (GRCm39) frame shift probably null
RF005:Or51q1 UTSW 7 103,628,768 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCATCCATCAAGTATGTCAGAAG -3'
(R):5'- ACAGATGGCCACATAACGGTC -3'

Sequencing Primer
(F):5'- TCAAGTATGTCAGAAGTAACAAACAC -3'
(R):5'- CATAACGGTCAAAGGACATGGCC -3'
Posted On 2014-10-15