Incidental Mutation 'R5843:Or2aj4'
ID 450561
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 043224-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R5843 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 19384690-19385631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19385333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 100 (Q100L)
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: Q100L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087516
Gene: ENSMUSG00000068535
AA Change: Q100L

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: Q100L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215476
AA Change: Q100L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216070
AA Change: Q100L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 A G 1: 89,537,272 (GRCm39) T93A probably damaging Het
Atp6v1h T A 1: 5,232,312 (GRCm39) probably null Het
Ccnk T C 12: 108,159,989 (GRCm39) V157A probably damaging Het
Cdh10 T C 15: 18,985,286 (GRCm39) F317L possibly damaging Het
Chn1 A G 2: 73,510,092 (GRCm39) I139T probably benign Het
Creld2 A T 15: 88,710,632 (GRCm39) D349V probably damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Frem1 T C 4: 82,854,289 (GRCm39) D1660G probably damaging Het
Hipk3 A C 2: 104,270,569 (GRCm39) S470R possibly damaging Het
Hook2 T A 8: 85,717,912 (GRCm39) I37K probably damaging Het
Hpcal1 T C 12: 17,841,200 (GRCm39) F193L probably benign Het
Hps4 T C 5: 112,497,296 (GRCm39) probably null Het
Iqgap1 T C 7: 80,375,828 (GRCm39) N1349S probably benign Het
Khk A G 5: 31,079,275 (GRCm39) I6V possibly damaging Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lrch3 T C 16: 32,818,896 (GRCm39) V629A probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Muc13 A G 16: 33,626,421 (GRCm39) Y320C probably damaging Het
Or2y1b A T 11: 49,209,076 (GRCm39) R234S probably benign Het
Or5ac21 T A 16: 59,123,724 (GRCm39) D69E probably damaging Het
Parpbp A G 10: 87,969,053 (GRCm39) L131P probably damaging Het
Prl3a1 T C 13: 27,454,093 (GRCm39) W24R probably damaging Het
Ptprk T A 10: 28,369,060 (GRCm39) N677K probably damaging Het
Rbm39 A T 2: 156,004,793 (GRCm39) D181E possibly damaging Het
Ros1 T C 10: 52,042,293 (GRCm39) T220A possibly damaging Het
Slc46a3 T C 5: 147,823,021 (GRCm39) I274V probably benign Het
Tas2r104 T A 6: 131,661,938 (GRCm39) N257I probably damaging Het
Timeless A G 10: 128,080,113 (GRCm39) probably null Het
Tmem63a T C 1: 180,800,398 (GRCm39) probably null Het
Traf5 T C 1: 191,729,446 (GRCm39) D535G possibly damaging Het
Trank1 C T 9: 111,194,928 (GRCm39) S984L possibly damaging Het
Trpm6 A G 19: 18,833,539 (GRCm39) T1573A probably benign Het
Ube3b T A 5: 114,550,360 (GRCm39) I835N probably damaging Het
Wnt16 T A 6: 22,290,947 (GRCm39) I125N probably damaging Het
Xirp2 G T 2: 67,307,129 (GRCm39) probably benign Het
Zbtb47 T C 9: 121,596,405 (GRCm39) F624S possibly damaging Het
Zc3h12c G T 9: 52,027,982 (GRCm39) T460K probably benign Het
Zfp865 C A 7: 5,033,416 (GRCm39) T467K probably benign Het
Zim1 A G 7: 6,680,697 (GRCm39) V322A possibly 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
R3016:Or2aj4 UTSW 16 19,385,141 (GRCm39) missense probably damaging 1.00
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
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'- CAATGGCTCTTGAGTGGCAG -3'
(R):5'- AAATGCCCTCATGATCCTCCTAATC -3'

Sequencing Primer
(F):5'- GTGCAAAAACTGTGTGTACTATGG -3'
(R):5'- TGATCCTCCTAATCCACAGGG -3'
Posted On 2016-12-20