Incidental Mutation 'R1441:Or2a54'
ID 161004
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 039496-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R1441 (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 43092880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 68 (V68A)
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: V68A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000093648
Gene: ENSMUSG00000094669
AA Change: V68A

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: V68A
SMART Domains Protein: ENSMUSP00000144691
Gene: ENSMUSG00000073110
AA Change: V68A

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: V68A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.4%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 A T 8: 114,481,194 (GRCm39) probably null Het
Ankrd16 T C 2: 11,783,557 (GRCm39) L53P probably damaging Het
Arsk A T 13: 76,223,083 (GRCm39) N171K probably benign Het
Brwd1 A C 16: 95,867,351 (GRCm39) C161W probably damaging Het
Card9 T C 2: 26,249,402 (GRCm39) N53S probably benign Het
Ccdc13 A T 9: 121,642,515 (GRCm39) V403E probably benign Het
Ccdc83 T A 7: 89,893,351 (GRCm39) E135D probably damaging Het
Ccser1 C T 6: 62,357,016 (GRCm39) T818I probably benign Het
Cd44 T A 2: 102,676,763 (GRCm39) T301S probably damaging Het
Eepd1 G A 9: 25,394,499 (GRCm39) M254I probably benign Het
Ephb4 C T 5: 137,359,509 (GRCm39) R360C probably damaging Het
Fam149a G T 8: 45,808,684 (GRCm39) Q150K probably damaging Het
G6pc2 G A 2: 69,051,198 (GRCm39) C97Y probably damaging Het
Gcsam T A 16: 45,433,401 (GRCm39) M15K probably benign Het
Impdh2 C A 9: 108,441,975 (GRCm39) T201K probably benign Het
Kdm2b C T 5: 123,070,943 (GRCm39) E379K probably benign Het
Mcm3ap T C 10: 76,307,000 (GRCm39) V371A probably benign Het
Mink1 T A 11: 70,497,940 (GRCm39) N514K possibly damaging Het
Mmp12 C T 9: 7,354,787 (GRCm39) P330L probably damaging Het
Mroh2a A G 1: 88,169,353 (GRCm39) D676G possibly damaging Het
Myo1a C T 10: 127,555,148 (GRCm39) P838L probably benign Het
Naip5 T C 13: 100,356,225 (GRCm39) H1130R possibly damaging Het
Ninl C A 2: 150,813,044 (GRCm39) G204V probably benign Het
Or12k5 C A 2: 36,895,131 (GRCm39) R165L possibly damaging Het
Or4k51 T C 2: 111,585,347 (GRCm39) F251S probably damaging Het
Or5ac20 G A 16: 59,104,228 (GRCm39) L211F probably benign Het
Or5an11 T A 19: 12,245,750 (GRCm39) L52* probably null Het
Or8c15 T C 9: 38,120,777 (GRCm39) C141R probably damaging Het
Phactr4 G A 4: 132,104,559 (GRCm39) T256I probably benign Het
Pip4p2 A T 4: 14,892,477 (GRCm39) I114L possibly damaging Het
Ptpn22 G T 3: 103,781,563 (GRCm39) W114L probably damaging Het
Rasa1 C T 13: 85,400,540 (GRCm39) probably null Het
Rbks C T 5: 31,817,341 (GRCm39) V143I probably benign Het
Rbm19 T C 5: 120,269,241 (GRCm39) F515L probably damaging Het
Ror1 A G 4: 100,298,180 (GRCm39) T518A probably benign Het
Rpusd4 C A 9: 35,184,065 (GRCm39) A240E probably damaging Het
Rufy3 T C 5: 88,780,374 (GRCm39) L374P probably damaging Het
Sf3a3 T C 4: 124,618,935 (GRCm39) S299P probably damaging Het
Slc7a12 T G 3: 14,562,414 (GRCm39) S264A possibly damaging Het
Tasor T A 14: 27,186,217 (GRCm39) C805* probably null Het
Tm9sf1 T C 14: 55,873,782 (GRCm39) Y572C probably damaging Het
Tpcn2 G A 7: 144,813,871 (GRCm39) S475L probably benign Het
Trim17 A G 11: 58,856,018 (GRCm39) D25G probably damaging Het
Ttn T A 2: 76,572,121 (GRCm39) K26257N probably damaging Het
Txndc11 C A 16: 10,952,414 (GRCm39) probably benign Het
Utrn A G 10: 12,559,039 (GRCm39) S1405P probably damaging Het
Vmn2r58 G A 7: 41,486,864 (GRCm39) T677I 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
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
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'- GCCAATCAGACATGGATCACAGAGG -3'
(R):5'- GGAGACAGCAGCCATTATGGTACAC -3'

Sequencing Primer
(F):5'- ATCACAGAGGTCACTCTACTGGG -3'
(R):5'- CTCCAGCTCATGATGACAGTGTAG -3'
Posted On 2014-03-14