Incidental Mutation 'R7661:Or51aa2'
ID 591568
Institutional Source Beutler Lab
Gene Symbol Or51aa2
Ensembl Gene ENSMUSG00000094119
Gene Name olfactory receptor family 51 subfamily AA member 2
Synonyms MOR15-3, EG545985, Olfr612, GA_x6K02T2PBJ9-6251685-6250741
MMRRC Submission 045736-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R7661 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 103187468-103188439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 103187826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 205 (V205E)
Ref Sequence ENSEMBL: ENSMUSP00000150524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000104879] [ENSMUST00000214269] [ENSMUST00000215663]
AlphaFold L7N462
Predicted Effect probably damaging
Transcript: ENSMUST00000104879
AA Change: V205E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100473
Gene: ENSMUSG00000094119
AA Change: V205E

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 1.3e-109 PFAM
Pfam:7TM_GPCR_Srsx 37 309 4.7e-11 PFAM
Pfam:7tm_1 43 294 3.8e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214269
AA Change: V205E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215663
AA Change: V205E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Meta Mutation Damage Score 0.2364 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (50/52)
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, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110018I06Rik A T 12: 107,455,215 (GRCm39) K100N unknown Het
Abi3bp T A 16: 56,453,263 (GRCm39) probably null Het
Akr1c20 T C 13: 4,558,218 (GRCm39) D210G probably benign Het
Arid5b C T 10: 67,934,417 (GRCm39) G495E probably benign Het
Ascc1 A C 10: 59,885,629 (GRCm39) N227H probably damaging Het
Atp5f1a G T 18: 77,861,802 (GRCm39) A18S possibly damaging Het
Bcl2l13 A G 6: 120,842,558 (GRCm39) T84A possibly damaging Het
Blmh T A 11: 76,877,341 (GRCm39) V419D probably damaging Het
Cacna1d G A 14: 29,769,177 (GRCm39) P1918S probably benign Het
Calr4 T C 4: 109,110,951 (GRCm39) V339A probably benign Het
Capza3 C A 6: 139,987,498 (GRCm39) D32E probably benign Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Cldn20 T A 17: 3,583,133 (GRCm39) M102K possibly damaging Het
Dennd1a T C 2: 37,734,841 (GRCm39) Q479R probably benign Het
Dpp10 A T 1: 123,312,681 (GRCm39) I432N probably damaging Het
Dst T A 1: 34,295,434 (GRCm39) probably null Het
Efcab3 T A 11: 104,617,503 (GRCm39) D741E probably benign Het
Fam135a C T 1: 24,111,843 (GRCm39) probably null Het
Fam47e C T 5: 92,735,384 (GRCm39) L206F probably damaging Het
Focad G A 4: 88,221,772 (GRCm39) R714H unknown Het
Hace1 T G 10: 45,481,649 (GRCm39) V124G probably damaging Het
Ifit1bl2 T A 19: 34,596,428 (GRCm39) Y396F probably damaging Het
Il22ra2 A G 10: 19,497,826 (GRCm39) I13M probably benign Het
Kif21a A G 15: 90,865,122 (GRCm39) F517L possibly damaging Het
Lrrc4 T C 6: 28,829,762 (GRCm39) T618A probably benign Het
Mdn1 A G 4: 32,691,229 (GRCm39) T952A probably benign Het
Mindy3 A T 2: 12,402,328 (GRCm39) I208K probably damaging Het
Mug1 C A 6: 121,838,179 (GRCm39) H470N possibly damaging Het
Mycbp2 A G 14: 103,450,059 (GRCm39) I1744T probably damaging Het
Nanog A T 6: 122,690,431 (GRCm39) R279W probably damaging Het
Ncoa2 T A 1: 13,244,761 (GRCm39) T646S probably damaging Het
Ndufa5 A G 6: 24,518,724 (GRCm39) *117R probably null Het
Nudt18 A T 14: 70,817,276 (GRCm39) E293D probably benign Het
Or1e22 A G 11: 73,377,426 (GRCm39) S75P probably damaging Het
Paip1 C T 13: 119,587,306 (GRCm39) T390I possibly damaging Het
Pigg G A 5: 108,486,485 (GRCm39) V713I probably benign Het
Pih1d2 T C 9: 50,529,558 (GRCm39) probably null Het
Ppp2r3d A G 9: 124,442,696 (GRCm38) F17L Het
Ptprk T C 10: 28,342,036 (GRCm39) I481T probably benign Het
Pygo2 T C 3: 89,338,038 (GRCm39) probably null Het
Raet1d T C 10: 22,248,156 (GRCm39) S225P possibly damaging Het
Rnf24 T C 2: 131,164,135 (GRCm39) probably benign Het
Ror1 A G 4: 100,298,687 (GRCm39) S687G probably damaging Het
Rsph9 A G 17: 46,446,013 (GRCm39) S186P probably damaging Het
Sash1 C T 10: 8,605,155 (GRCm39) M1078I probably benign Het
Scd4 C A 19: 44,327,510 (GRCm39) D195E probably benign Het
Spopfm3 C T 3: 94,105,709 (GRCm39) T9I probably damaging Het
Syn3 A G 10: 85,904,940 (GRCm39) C348R probably damaging Het
Uspl1 T C 5: 149,151,827 (GRCm39) F1009S probably benign Het
Vmn1r2 T A 4: 3,172,149 (GRCm39) F23I probably benign Het
Vmn1r257 A G 7: 22,391,229 (GRCm39) S172P probably benign Het
Vmn2r-ps158 T A 7: 42,672,582 (GRCm39) N72K probably benign Het
Zfp747l1 A T 7: 126,984,135 (GRCm39) C322* probably null Het
Zfp839 C T 12: 110,835,226 (GRCm39) T827I probably benign Het
Other mutations in Or51aa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01808:Or51aa2 APN 7 103,187,781 (GRCm39) missense probably damaging 1.00
IGL01901:Or51aa2 APN 7 103,188,177 (GRCm39) missense probably damaging 0.98
R1200:Or51aa2 UTSW 7 103,188,274 (GRCm39) missense probably benign 0.01
R1591:Or51aa2 UTSW 7 103,188,274 (GRCm39) missense probably benign 0.00
R1858:Or51aa2 UTSW 7 103,187,859 (GRCm39) missense probably damaging 1.00
R1975:Or51aa2 UTSW 7 103,188,201 (GRCm39) missense probably damaging 1.00
R1994:Or51aa2 UTSW 7 103,187,566 (GRCm39) missense possibly damaging 0.57
R3690:Or51aa2 UTSW 7 103,188,274 (GRCm39) missense probably benign 0.01
R4635:Or51aa2 UTSW 7 103,188,355 (GRCm39) missense probably benign 0.00
R4670:Or51aa2 UTSW 7 103,188,393 (GRCm39) missense possibly damaging 0.89
R5267:Or51aa2 UTSW 7 103,188,031 (GRCm39) missense probably benign 0.19
R5417:Or51aa2 UTSW 7 103,187,970 (GRCm39) missense possibly damaging 0.94
R6644:Or51aa2 UTSW 7 103,188,265 (GRCm39) missense possibly damaging 0.94
R7253:Or51aa2 UTSW 7 103,187,995 (GRCm39) missense probably benign 0.01
R7278:Or51aa2 UTSW 7 103,187,935 (GRCm39) missense probably benign 0.02
R7525:Or51aa2 UTSW 7 103,188,338 (GRCm39) nonsense probably null
R7553:Or51aa2 UTSW 7 103,188,363 (GRCm39) missense probably damaging 0.99
R8379:Or51aa2 UTSW 7 103,188,183 (GRCm39) missense possibly damaging 0.91
R8493:Or51aa2 UTSW 7 103,187,479 (GRCm39) missense probably benign 0.01
R8774:Or51aa2 UTSW 7 103,187,965 (GRCm39) missense probably benign 0.00
R8774-TAIL:Or51aa2 UTSW 7 103,187,965 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGTTGGCCAGGGTCACATAG -3'
(R):5'- CTTGGCTATTGTTGTACGAACC -3'

Sequencing Primer
(F):5'- GCCTTGGACCAAAACGATG -3'
(R):5'- AACCTTAACTGTGCAGGTGC -3'
Posted On 2019-11-12