Incidental Mutation 'R4438:Or2a54'
ID 329622
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 041703-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R4438 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 43092678-43093610 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43093221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 182 (S182P)
Ref Sequence ENSEMBL: ENSMUSP00000150572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095954] [ENSMUST00000204092] [ENSMUST00000213649]
AlphaFold Q8VFS5
Predicted Effect probably benign
Transcript: ENSMUST00000095954
AA Change: S182P

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000093648
Gene: ENSMUSG00000094669
AA Change: S182P

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: S182P
SMART Domains Protein: ENSMUSP00000144691
Gene: ENSMUSG00000073110
AA Change: S182P

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 8.6e-60 PFAM
Pfam:7tm_1 40 289 3.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213649
AA Change: S182P

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
Meta Mutation Damage Score 0.2350 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (52/52)
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, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 T A 2: 58,367,739 (GRCm39) I141F probably benign Het
Adam6b A C 12: 113,454,281 (GRCm39) Q366P probably damaging Het
Adck1 C T 12: 88,397,920 (GRCm39) Q185* probably null Het
Adgrb3 T C 1: 25,870,108 (GRCm39) probably benign Het
Als2cl T C 9: 110,714,466 (GRCm39) S105P probably damaging Het
Asns C A 6: 7,675,320 (GRCm39) A561S probably benign Het
Bcl2a1d A T 9: 88,613,753 (GRCm39) M7K probably benign Het
Bst1 A T 5: 43,982,682 (GRCm39) probably null Het
Cdc37l1 T C 19: 28,985,021 (GRCm39) F224L probably damaging Het
Csmd3 G A 15: 47,763,191 (GRCm39) T1215I possibly damaging Het
Csnk1e A T 15: 79,305,129 (GRCm39) S323T probably benign Het
Cyp2j7 G T 4: 96,105,646 (GRCm39) T288K probably benign Het
Dnaaf5 T A 5: 139,149,147 (GRCm39) I482N probably damaging Het
Dpy19l3 A G 7: 35,392,284 (GRCm39) I636T probably damaging Het
Enpep T G 3: 129,077,740 (GRCm39) T626P possibly damaging Het
Fgfr2 G A 7: 129,774,660 (GRCm39) R509* probably null Het
Gm5849 T A 3: 90,685,182 (GRCm39) K1M probably null Het
Gpr83 T C 9: 14,776,134 (GRCm39) Y152H probably damaging Het
Hdac7 T C 15: 97,705,596 (GRCm39) E400G probably damaging Het
Hypk A T 2: 121,288,475 (GRCm39) E82V probably damaging Het
Iqub C A 6: 24,505,867 (GRCm39) A14S probably benign Het
Lias T C 5: 65,552,787 (GRCm39) M130T probably damaging Het
Lingo4 T C 3: 94,310,204 (GRCm39) S381P possibly damaging Het
Mdn1 A G 4: 32,704,635 (GRCm39) T1536A probably damaging Het
Moxd2 T A 6: 40,860,996 (GRCm39) D265V probably damaging Het
Mtbp C A 15: 55,466,611 (GRCm39) S541R probably benign Het
Or10j27 C A 1: 172,957,869 (GRCm39) C305F probably benign Het
Or4k15b T C 14: 50,272,287 (GRCm39) D191G probably damaging Het
Pcsk9 G T 4: 106,316,156 (GRCm39) Q96K probably benign Het
Pramel14 T C 4: 143,718,192 (GRCm39) Y417C probably damaging Het
Rln1 A T 19: 29,311,962 (GRCm39) F12Y possibly damaging Het
Setd1a A G 7: 127,384,903 (GRCm39) N585D possibly damaging Het
Siah1b G A X: 162,854,688 (GRCm39) P131S probably damaging Het
Smarcal1 T C 1: 72,650,637 (GRCm39) probably benign Het
Snx19 G T 9: 30,339,895 (GRCm39) L344F probably benign Het
Srfbp1 T C 18: 52,621,403 (GRCm39) C155R probably benign Het
Sspo C T 6: 48,464,287 (GRCm39) R3914C probably damaging Het
Tacc2 G A 7: 130,225,271 (GRCm39) S652N probably damaging Het
Tmub1 A C 5: 24,651,068 (GRCm39) L197R probably damaging Het
Tnc T C 4: 63,926,066 (GRCm39) T905A possibly damaging Het
Tnfrsf21 G T 17: 43,398,733 (GRCm39) R613L possibly damaging Het
Ugt3a1 A T 15: 9,351,283 (GRCm39) E97D probably benign Het
Vmn2r25 A G 6: 123,816,756 (GRCm39) I275T probably benign Het
Zfp1010 T G 2: 176,956,889 (GRCm39) Q203P possibly damaging Het
Zfp568 G T 7: 29,721,721 (GRCm39) C221F probably benign Het
Zfp91 C A 19: 12,755,385 (GRCm39) E217* probably null Het
Zswim3 T A 2: 164,662,563 (GRCm39) C348S 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
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
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'- TGGCCTTTGCTTCCATAGAGTG -3'
(R):5'- AAAGCCTTTCTGCGACCTTC -3'

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