Incidental Mutation 'R4465:Or2a54'
ID 330302
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 041580-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4465 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 43092678-43093610 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43092852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 59 (Y59H)
Ref Sequence ENSEMBL: ENSMUSP00000150572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095954] [ENSMUST00000204092] [ENSMUST00000213649]
AlphaFold Q8VFS5
Predicted Effect probably damaging
Transcript: ENSMUST00000095954
AA Change: Y59H

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000093648
Gene: ENSMUSG00000094669
AA Change: Y59H

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 8.6e-60 PFAM
Pfam:7tm_1 40 289 3.5e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204092
AA Change: Y59H
SMART Domains Protein: ENSMUSP00000144691
Gene: ENSMUSG00000073110
AA Change: Y59H

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: Y59H

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Acsbg2 A G 17: 57,168,580 (GRCm39) Y180H probably damaging Het
Adgrb3 G T 1: 25,133,447 (GRCm39) T1213K probably damaging Het
Atrn A G 2: 130,802,388 (GRCm39) T510A probably benign Het
Clasp1 C A 1: 118,488,808 (GRCm39) T857N probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Col12a1 C A 9: 79,580,192 (GRCm39) V1562F possibly damaging Het
Cyp4f40 T A 17: 32,890,186 (GRCm39) D285E probably benign Het
Dis3 G A 14: 99,321,550 (GRCm39) S599L possibly damaging Het
Dnah11 T C 12: 117,951,186 (GRCm39) T3041A probably benign Het
Erbin T C 13: 103,981,393 (GRCm39) N511D probably benign Het
F11 T A 8: 45,694,511 (GRCm39) I617F probably damaging Het
Gm11541 A T 11: 94,595,048 (GRCm39) C7S unknown Het
Klk12 A T 7: 43,422,807 (GRCm39) R245W probably damaging Het
Lao1 C A 4: 118,822,504 (GRCm39) S141R probably benign Het
Lrrk2 A G 15: 91,632,023 (GRCm39) K1316E probably damaging Het
Map3k6 A G 4: 132,973,644 (GRCm39) Y445C possibly damaging Het
Mup6 T C 4: 60,004,000 (GRCm39) I31T probably damaging Het
Ndnf T A 6: 65,681,180 (GRCm39) D486E probably benign Het
Or8h7 A T 2: 86,721,494 (GRCm39) N8K probably benign Het
Or8k37 A T 2: 86,469,478 (GRCm39) N191K probably benign Het
Rab19 T C 6: 39,365,060 (GRCm39) S107P probably damaging Het
Slc22a29 A T 19: 8,140,088 (GRCm39) L439* probably null Het
Slc5a1 A G 5: 33,303,860 (GRCm39) E225G possibly damaging Het
Slx4 A G 16: 3,806,919 (GRCm39) V508A possibly damaging Het
Snx25 A G 8: 46,521,266 (GRCm39) S373P possibly damaging Het
Stag2 A G X: 41,322,749 (GRCm39) S400G probably benign Homo
Tas2r107 A G 6: 131,636,972 (GRCm39) Y26H probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Zdhhc22 G A 12: 87,034,997 (GRCm39) L152F probably benign Het
Zfpm2 T G 15: 40,959,557 (GRCm39) M80R probably benign 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
R5191:Or2a54 UTSW 6 43,092,800 (GRCm39) missense probably damaging 1.00
R6353:Or2a54 UTSW 6 43,093,070 (GRCm39) nonsense probably null
R6719:Or2a54 UTSW 6 43,092,907 (GRCm39) missense probably damaging 1.00
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'- AGAGCCAATCAGACATGGATC -3'
(R):5'- TCCAGCTCATGATGACAGTGTAG -3'

Sequencing Primer
(F):5'- GACATGGATCACAGAGGTCACTC -3'
(R):5'- CAGCTCATGATGACAGTGTAGTGAAG -3'
Posted On 2015-07-21