Incidental Mutation 'R3016:Or2aj4'
ID 265720
Institutional Source Beutler Lab
Gene Symbol Or2aj4
Ensembl Gene ENSMUSG00000068535
Gene Name olfactory receptor family 2 subfamily AJ member 4
Synonyms GA_x54KRFPKG5P-16014972-16014031, MOR273-3P, Olfr169
MMRRC Submission 040537-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R3016 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 19384690-19385631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19385141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 164 (L164P)
Ref Sequence ENSEMBL: ENSMUSP00000150528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090062] [ENSMUST00000215040] [ENSMUST00000215476] [ENSMUST00000216070]
AlphaFold Q7TS53
Predicted Effect probably damaging
Transcript: ENSMUST00000090062
AA Change: L164P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087516
Gene: ENSMUSG00000068535
AA Change: L164P

DomainStartEndE-ValueType
Pfam:7tm_4 28 308 1.3e-45 PFAM
Pfam:7TM_GPCR_Srsx 35 303 2e-6 PFAM
Pfam:7tm_1 41 290 7.4e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215040
AA Change: L164P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215476
AA Change: L164P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216070
AA Change: L164P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.2%
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik T C 11: 69,790,048 (GRCm39) D74G probably benign Het
Alkbh8 G T 9: 3,369,658 (GRCm39) S309I probably benign Het
Asgr2 A T 11: 69,996,235 (GRCm39) I226F probably damaging Het
Cep250 A G 2: 155,833,208 (GRCm39) E1690G probably damaging Het
Fancd2 T C 6: 113,513,687 (GRCm39) V71A probably benign Het
Foxo3 G T 10: 42,073,352 (GRCm39) D388E probably benign Het
Gna14 A T 19: 16,580,746 (GRCm39) I195F probably benign Het
Hecw2 T C 1: 53,869,839 (GRCm39) D1463G probably damaging Het
Idi2 T C 13: 9,009,466 (GRCm39) *228R probably null Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Lag3 A G 6: 124,885,429 (GRCm39) V317A probably damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Or8g53 A T 9: 39,683,979 (GRCm39) V39E probably benign Het
Padi3 G T 4: 140,513,898 (GRCm39) F593L probably damaging Het
Piezo1 A G 8: 123,232,766 (GRCm39) probably null Het
Piezo2 G A 18: 63,175,903 (GRCm39) T1826I probably damaging Het
Pkhd1l1 G A 15: 44,408,766 (GRCm39) A2418T probably benign Het
Pole2 A G 12: 69,268,836 (GRCm39) M111T probably benign Het
Ptprb T C 10: 116,193,200 (GRCm39) S1901P possibly damaging Het
Rapgef1 G A 2: 29,597,405 (GRCm39) R588Q probably damaging Het
Tmed6 A G 8: 107,792,069 (GRCm39) F59L probably damaging Het
Xpo5 A G 17: 46,531,757 (GRCm39) D431G probably damaging Het
Other mutations in Or2aj4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Or2aj4 APN 16 19,384,958 (GRCm39) missense probably damaging 1.00
IGL01862:Or2aj4 APN 16 19,385,426 (GRCm39) missense probably damaging 1.00
IGL02064:Or2aj4 APN 16 19,385,298 (GRCm39) missense probably damaging 1.00
IGL03061:Or2aj4 APN 16 19,385,463 (GRCm39) missense possibly damaging 0.87
IGL03136:Or2aj4 APN 16 19,385,103 (GRCm39) missense probably damaging 1.00
R0066:Or2aj4 UTSW 16 19,384,799 (GRCm39) missense probably damaging 1.00
R0243:Or2aj4 UTSW 16 19,385,044 (GRCm39) missense probably damaging 0.97
R0629:Or2aj4 UTSW 16 19,384,730 (GRCm39) missense possibly damaging 0.88
R1644:Or2aj4 UTSW 16 19,385,156 (GRCm39) missense probably benign 0.11
R1943:Or2aj4 UTSW 16 19,385,187 (GRCm39) missense probably benign 0.19
R4290:Or2aj4 UTSW 16 19,384,994 (GRCm39) missense possibly damaging 0.88
R4689:Or2aj4 UTSW 16 19,385,263 (GRCm39) nonsense probably null
R4791:Or2aj4 UTSW 16 19,385,413 (GRCm39) missense possibly damaging 0.50
R5497:Or2aj4 UTSW 16 19,385,080 (GRCm39) missense probably benign 0.10
R5843:Or2aj4 UTSW 16 19,385,333 (GRCm39) missense probably damaging 1.00
R6106:Or2aj4 UTSW 16 19,385,009 (GRCm39) missense probably damaging 0.99
R6249:Or2aj4 UTSW 16 19,384,725 (GRCm39) missense probably damaging 0.99
R7895:Or2aj4 UTSW 16 19,385,472 (GRCm39) nonsense probably null
R9284:Or2aj4 UTSW 16 19,385,357 (GRCm39) missense probably damaging 1.00
R9335:Or2aj4 UTSW 16 19,385,513 (GRCm39) missense probably benign 0.32
R9364:Or2aj4 UTSW 16 19,384,722 (GRCm39) missense possibly damaging 0.68
R9404:Or2aj4 UTSW 16 19,384,731 (GRCm39) missense probably benign 0.01
R9475:Or2aj4 UTSW 16 19,385,270 (GRCm39) missense probably benign 0.09
R9554:Or2aj4 UTSW 16 19,384,722 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- CCCCTGATGACTGCATTTGG -3'
(R):5'- GGCTGTGCCTTCCAGATATTTC -3'

Sequencing Primer
(F):5'- CCCTGATGACTGCATTTGGAATACAG -3'
(R):5'- GTGCCTTCCAGATATTTCTCTCTC -3'
Posted On 2015-02-05