Incidental Mutation 'R8297:Or2a54'
ID 639010
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 067853-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R8297 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 43092678-43093610 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43093440 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 255 (I255V)
Ref Sequence ENSEMBL: ENSMUSP00000144691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095954] [ENSMUST00000204092]
AlphaFold Q8VFS5
Predicted Effect probably benign
Transcript: ENSMUST00000095954
AA Change: I255V

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000093648
Gene: ENSMUSG00000094669
AA Change: I255V

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: ENSMUST00000204092
AA Change: I255V

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144691
Gene: ENSMUSG00000073110
AA Change: I255V

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 8.6e-60 PFAM
Pfam:7tm_1 40 289 3.5e-26 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (61/61)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020N01Rik T C 10: 21,497,578 (GRCm39) L73P probably damaging Het
4933412E24Rik T G 15: 59,887,524 (GRCm39) R305S probably damaging Het
Adamts19 T A 18: 58,970,920 (GRCm39) V168E probably damaging Het
Ankrd34b T A 13: 92,576,097 (GRCm39) L443Q probably damaging Het
Ano3 A G 2: 110,491,616 (GRCm39) Y887H probably damaging Het
Arhgef2 A T 3: 88,546,739 (GRCm39) H553L probably benign Het
Atxn1 G T 13: 45,720,505 (GRCm39) N463K probably benign Het
Birc6 A G 17: 74,932,099 (GRCm39) probably null Het
C4bp A G 1: 130,564,482 (GRCm39) S401P probably damaging Het
Cd5 T A 19: 10,697,609 (GRCm39) R457W probably damaging Het
Chek2 T G 5: 110,996,302 (GRCm39) Y127D probably damaging Het
Clec4a1 G A 6: 122,898,960 (GRCm39) V10M probably damaging Het
Cltc A G 11: 86,603,457 (GRCm39) Y790H probably damaging Het
Cops2 T C 2: 125,701,028 (GRCm39) probably benign Het
Cyb5d2 A G 11: 72,679,929 (GRCm39) F122S probably damaging Het
Daam1 T A 12: 71,998,689 (GRCm39) L548H unknown Het
Dcp1a A G 14: 30,244,883 (GRCm39) T570A possibly damaging Het
Dsg1a A C 18: 20,465,090 (GRCm39) N427T probably benign Het
Ear14 A T 14: 51,441,564 (GRCm39) D140V probably damaging Het
Epha4 A C 1: 77,483,547 (GRCm39) F154C probably damaging Het
Ets2 G A 16: 95,507,321 (GRCm39) V12M probably damaging Het
Fbxo40 G A 16: 36,789,670 (GRCm39) T480I probably damaging Het
Fdps A T 3: 89,001,048 (GRCm39) Y322N probably damaging Het
Gca T C 2: 62,516,700 (GRCm39) M132T probably benign Het
Ifi203 T G 1: 173,765,496 (GRCm39) K26T probably damaging Het
Itga10 A G 3: 96,562,116 (GRCm39) R668G probably damaging Het
Itgal T C 7: 126,929,638 (GRCm39) I1185T unknown Het
Kcnj13 A T 1: 87,314,189 (GRCm39) N344K probably damaging Het
Kdm5a A T 6: 120,358,516 (GRCm39) L186F probably benign Het
Klhl8 T C 5: 104,010,954 (GRCm39) N624D probably benign Het
Klrb1 G T 6: 128,689,222 (GRCm39) T83K possibly damaging Het
Krt77 TGCCGCCGCCGCCGCCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCGCCGC 15: 101,768,407 (GRCm39) probably benign Het
Ltb G T 17: 35,413,655 (GRCm39) R53L probably benign Het
Mterf3 A G 13: 67,055,222 (GRCm39) V69A Het
Mvb12a A G 8: 71,997,888 (GRCm39) K101E probably damaging Het
Nbeal2 T A 9: 110,464,409 (GRCm39) Q1110L possibly damaging Het
Neb T A 2: 52,198,775 (GRCm39) T389S possibly damaging Het
Nol4 A G 18: 23,173,069 (GRCm39) F11L probably damaging Het
Or10p22 T C 10: 128,826,708 (GRCm39) L309P possibly damaging Het
Or2h15 A G 17: 38,441,484 (GRCm39) S200P probably damaging Het
Or52e8b C T 7: 104,673,885 (GRCm39) G97R probably benign Het
Pde2a T A 7: 101,153,880 (GRCm39) Y487N possibly damaging Het
Pde4a C T 9: 21,077,404 (GRCm39) P61S possibly damaging Het
Pramel16 T A 4: 143,675,690 (GRCm39) T379S probably benign Het
Prr5l A G 2: 101,571,630 (GRCm39) probably null Het
Ptpn6 G A 6: 124,705,614 (GRCm39) T179I possibly damaging Het
Ralyl T C 3: 14,104,836 (GRCm39) S34P probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Robo2 A T 16: 73,812,814 (GRCm39) C293* probably null Het
Rtn4 T G 11: 29,655,536 (GRCm39) D169E probably damaging Het
Slc22a22 A T 15: 57,122,506 (GRCm39) V157E probably damaging Het
Sytl2 A G 7: 90,034,283 (GRCm39) T498A probably benign Het
Tgm6 G A 2: 129,979,358 (GRCm39) V163I probably benign Het
Tnpo3 A T 6: 29,582,302 (GRCm39) C187S possibly damaging Het
Ttn A G 2: 76,616,485 (GRCm39) probably null Het
Tut4 G A 4: 108,336,905 (GRCm39) A210T possibly damaging Het
Vangl2 C A 1: 171,837,513 (GRCm39) V99F possibly damaging Het
Vmn1r167 C T 7: 23,204,215 (GRCm39) C267Y probably damaging Het
Vsig10l T C 7: 43,113,531 (GRCm39) V161A possibly damaging Het
Xrcc5 G A 1: 72,364,244 (GRCm39) R232Q possibly damaging Het
Xrcc6 C G 15: 81,913,463 (GRCm39) F365L probably damaging Het
Zdhhc13 A G 7: 48,465,257 (GRCm39) Y389C 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
R6719:Or2a54 UTSW 6 43,092,907 (GRCm39) missense probably damaging 1.00
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'- AATCCTGTCTGTCCTCAAGC -3'
(R):5'- ATCCATCCAAGTCATTCTCTGATG -3'

Sequencing Primer
(F):5'- CAATCAAGTTGTCATCTTTGCAGC -3'
(R):5'- AAGTCATTCTCTGATGTCTCTCAC -3'
Posted On 2020-07-28