Incidental Mutation 'R2048:Or2a54'
ID 222213
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 040055-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R2048 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 43092678-43093610 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43093312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 212 (M212K)
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: M212K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000093648
Gene: ENSMUSG00000094669
AA Change: M212K

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: M212K
SMART Domains Protein: ENSMUSP00000144691
Gene: ENSMUSG00000073110
AA Change: M212K

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: M212K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 98% (52/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 A G 9: 70,647,357 (GRCm39) D19G possibly damaging Het
Adhfe1 A G 1: 9,633,778 (GRCm39) K342R probably benign Het
Adk A G 14: 21,368,244 (GRCm39) N223S probably damaging Het
Aff4 A G 11: 53,289,212 (GRCm39) S454G probably benign Het
Ahnak T A 19: 8,984,420 (GRCm39) N1901K probably damaging Het
Camsap1 T C 2: 25,819,755 (GRCm39) T1578A probably benign Het
Ccdc63 A C 5: 122,268,350 (GRCm39) probably null Het
Ceacam1 G T 7: 25,176,113 (GRCm39) S27Y probably benign Het
Cit T C 5: 116,024,872 (GRCm39) probably null Het
Cntn4 A G 6: 106,414,825 (GRCm39) probably benign Het
Cyp2d26 A G 15: 82,676,928 (GRCm39) probably benign Het
Cyp3a13 A T 5: 137,908,237 (GRCm39) V204E probably damaging Het
Cyp51 G A 5: 4,136,636 (GRCm39) probably benign Het
Dipk1a T C 5: 108,057,886 (GRCm39) D179G probably damaging Het
Epb41l4b T G 4: 57,142,866 (GRCm39) E96D probably benign Het
Epg5 A G 18: 78,067,202 (GRCm39) E2221G probably damaging Het
Fbxo21 T A 5: 118,146,169 (GRCm39) N597K probably damaging Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Fsip1 C A 2: 118,072,197 (GRCm39) E195D probably damaging Het
Gm10152 T C 7: 144,317,049 (GRCm39) F35L unknown Het
Gtpbp6 A C 5: 110,254,931 (GRCm39) V87G probably damaging Het
Hal A G 10: 93,327,002 (GRCm39) T176A probably damaging Het
Il12rb2 G T 6: 67,337,529 (GRCm39) N117K probably benign Het
Kalrn A G 16: 34,072,680 (GRCm39) V734A probably benign Het
Klf7 A G 1: 64,117,913 (GRCm39) V228A possibly damaging Het
Kng1 A G 16: 22,877,354 (GRCm39) Y54C probably damaging Het
Lpcat2 T G 8: 93,596,471 (GRCm39) N169K possibly damaging Het
Magohb A T 6: 131,266,385 (GRCm39) S40R probably damaging Het
Mgam A G 6: 40,633,363 (GRCm39) D186G possibly damaging Het
Mycbp2 A G 14: 103,469,960 (GRCm39) probably null Het
Myh15 A G 16: 48,975,928 (GRCm39) D1332G probably damaging Het
Myh9 G A 15: 77,655,332 (GRCm39) T1208M possibly damaging Het
Ncor2 C T 5: 125,161,996 (GRCm39) R426H unknown Het
Nradd T C 9: 110,450,697 (GRCm39) E160G probably benign Het
Or10u4 G A 10: 129,801,861 (GRCm39) S230L probably damaging Het
Otog A T 7: 45,937,063 (GRCm39) T1591S probably damaging Het
Oxsr1 A G 9: 119,076,140 (GRCm39) S389P probably benign Het
Pde3a A G 6: 141,434,732 (GRCm39) probably benign Het
Pi4k2b A T 5: 52,905,773 (GRCm39) I105L probably benign Het
Pilrb1 T C 5: 137,853,153 (GRCm39) R217G possibly damaging Het
Poteg A T 8: 27,946,774 (GRCm39) I159L probably benign Het
Ppargc1a A G 5: 51,705,858 (GRCm39) F75S probably damaging Het
Ptk2b T G 14: 66,409,954 (GRCm39) D466A probably benign Het
Ptpn21 A G 12: 98,655,785 (GRCm39) V394A possibly damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Shisa3 G A 5: 67,768,651 (GRCm39) E184K possibly damaging Het
Slc4a2 A G 5: 24,636,557 (GRCm39) H283R probably damaging Het
Slc9a3 A G 13: 74,311,860 (GRCm39) S603G probably damaging Het
Tas2r124 A G 6: 132,731,858 (GRCm39) I56V possibly damaging Het
Tbcd G T 11: 121,431,762 (GRCm39) C470F probably damaging Het
Thsd1 A G 8: 22,749,333 (GRCm39) R674G probably benign Het
Zbtb11 T A 16: 55,818,372 (GRCm39) C599S probably damaging Het
Zfp541 A G 7: 15,812,252 (GRCm39) R302G possibly 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
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'- TAATGGCTGCTGTCTCCTGG -3'
(R):5'- CAGGGAAAGGATCTTTTGCTG -3'

Sequencing Primer
(F):5'- GTCTCCTGGATAGTTGGCTTCC -3'
(R):5'- GAAAGGATCTTTTGCTGCATTTCAG -3'
Posted On 2014-08-25