Incidental Mutation 'R6719:Or2a54'
ID 529490
Institutional Source Beutler Lab
Gene Symbol Or2a54
Ensembl Gene ENSMUSG00000094669
Gene Name olfactory receptor family 2 subfamily A member 54
Synonyms GA_x6K02T2P3E9-4442577-4441645, Olfr441, MOR261-3
MMRRC Submission 044837-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R6719 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 43092678-43093610 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43092907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 77 (V77D)
Ref Sequence ENSEMBL: ENSMUSP00000150572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095954] [ENSMUST00000213649]
AlphaFold Q8VFS5
Predicted Effect probably damaging
Transcript: ENSMUST00000095954
AA Change: V77D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000093648
Gene: ENSMUSG00000094669
AA Change: V77D

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 8.6e-60 PFAM
Pfam:7tm_1 40 289 3.5e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213649
AA Change: V77D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik T C 19: 42,041,151 (GRCm39) I94T possibly damaging Het
Afp T A 5: 90,651,562 (GRCm39) N392K probably benign Het
Asrgl1 C T 19: 9,090,512 (GRCm39) G278D probably damaging Het
Atp2c1 T C 9: 105,301,377 (GRCm39) I611V probably damaging Het
Avl9 A G 6: 56,730,370 (GRCm39) Y571C probably damaging Het
Clrn1 A T 3: 58,753,861 (GRCm39) C167S probably damaging Het
Ctsr C T 13: 61,308,265 (GRCm39) G293D possibly damaging Het
Dmbt1 T A 7: 130,721,332 (GRCm39) S1867T possibly damaging Het
Dock9 A T 14: 121,847,439 (GRCm39) I1025N probably damaging Het
Dppa4 G A 16: 48,108,247 (GRCm39) A11T probably damaging Het
Duox2 T A 2: 122,114,867 (GRCm39) probably null Het
Fat3 A G 9: 15,907,440 (GRCm39) L2854P probably benign Het
Fcer1a A G 1: 173,050,340 (GRCm39) S61P possibly damaging Het
Fyb2 A T 4: 104,867,656 (GRCm39) D669V probably benign Het
Herc2 G T 7: 55,862,574 (GRCm39) C4081F probably damaging Het
Hexim1 T C 11: 103,008,091 (GRCm39) L115P probably benign Het
Kat2a T G 11: 100,602,967 (GRCm39) Q88H probably benign Het
Lrriq1 T C 10: 102,906,977 (GRCm39) Y1581C probably damaging Het
Ltbp4 T G 7: 27,028,188 (GRCm39) D323A probably damaging Het
Mark3 T A 12: 111,581,876 (GRCm39) I115K probably damaging Het
Nudt9 A G 5: 104,209,562 (GRCm39) D271G probably damaging Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pcdha5 T C 18: 37,093,925 (GRCm39) S145P probably damaging Het
Pzp T C 6: 128,501,046 (GRCm39) E104G probably benign Het
Rho T C 6: 115,910,854 (GRCm39) I133T possibly damaging Het
Sall3 G T 18: 81,014,721 (GRCm39) T997K probably damaging Het
Scn8a A T 15: 100,908,896 (GRCm39) probably null Het
Sfxn1 T A 13: 54,260,583 (GRCm39) H310Q probably benign Het
Slc25a18 A G 6: 120,765,215 (GRCm39) D92G probably damaging Het
Slc26a9 T C 1: 131,689,523 (GRCm39) I490T probably benign Het
Terf1 T C 1: 15,908,460 (GRCm39) V351A probably benign Het
Thsd7b A G 1: 130,087,451 (GRCm39) probably null Het
Trgj2 A G 13: 19,495,426 (GRCm39) probably benign Het
Tti1 A T 2: 157,824,220 (GRCm39) C1078S probably benign Het
Ttll3 A G 6: 113,375,993 (GRCm39) probably benign Het
Tubb1 A C 2: 174,299,187 (GRCm39) T290P probably damaging Het
Ugt2b35 G T 5: 87,155,247 (GRCm39) D361Y probably damaging Het
Zc2hc1c T C 12: 85,337,446 (GRCm39) S368P probably damaging Het
Other mutations in Or2a54
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0470:Or2a54 UTSW 6 43,093,558 (GRCm39) missense probably null 0.04
R0528:Or2a54 UTSW 6 43,093,150 (GRCm39) missense possibly damaging 0.56
R1441:Or2a54 UTSW 6 43,092,880 (GRCm39) missense probably benign 0.02
R2048:Or2a54 UTSW 6 43,093,312 (GRCm39) missense probably benign 0.00
R2191:Or2a54 UTSW 6 43,092,999 (GRCm39) missense probably benign 0.13
R4438:Or2a54 UTSW 6 43,093,221 (GRCm39) missense probably benign 0.09
R4465:Or2a54 UTSW 6 43,092,852 (GRCm39) missense probably damaging 0.97
R5191:Or2a54 UTSW 6 43,092,800 (GRCm39) missense probably damaging 1.00
R6353:Or2a54 UTSW 6 43,093,070 (GRCm39) nonsense probably null
R8297:Or2a54 UTSW 6 43,093,440 (GRCm39) missense probably benign 0.39
R8850:Or2a54 UTSW 6 43,092,905 (GRCm39) missense possibly damaging 0.67
Z1177:Or2a54 UTSW 6 43,093,169 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGGATTCCAAGCTGACCTAG -3'
(R):5'- GGAGACAGCAGCCATTATGG -3'

Sequencing Primer
(F):5'- ACCTAGCTGTGGAGTGTTTCCTC -3'
(R):5'- TCCAGCTCATGATGACAGTG -3'
Posted On 2018-08-01