Incidental Mutation 'R4290:Or2aj4'
ID 323031
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 041655-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R4290 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 19384690-19385631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19384994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 213 (M213K)
Ref Sequence ENSEMBL: ENSMUSP00000150528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090062] [ENSMUST00000215040] [ENSMUST00000215476] [ENSMUST00000216070]
AlphaFold Q7TS53
Predicted Effect possibly damaging
Transcript: ENSMUST00000090062
AA Change: M213K

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087516
Gene: ENSMUSG00000068535
AA Change: M213K

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 possibly damaging
Transcript: ENSMUST00000215040
AA Change: M213K

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215476
AA Change: M213K

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216070
AA Change: M213K

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (73/73)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T C 6: 142,539,738 (GRCm39) N1545S probably benign Het
Arid1b C A 17: 5,090,938 (GRCm39) S546R probably damaging Het
Arid3b A T 9: 57,697,713 (GRCm39) probably benign Het
Atf6b T A 17: 34,871,648 (GRCm39) M428K probably benign Het
Atpaf1 A T 4: 115,645,556 (GRCm39) M142L probably benign Het
Auts2 A G 5: 131,503,809 (GRCm39) S225P probably damaging Het
Bclaf1 A G 10: 20,199,524 (GRCm39) Q20R probably damaging Het
Bivm A T 1: 44,177,793 (GRCm39) R364S probably damaging Het
Brwd1 G A 16: 95,818,804 (GRCm39) P1343S probably damaging Het
Cckar A G 5: 53,863,839 (GRCm39) S41P probably benign Het
Cfap221 A G 1: 119,858,650 (GRCm39) S728P probably benign Het
Chrna9 A G 5: 66,134,481 (GRCm39) K444R probably benign Het
Cox10 A T 11: 63,855,081 (GRCm39) V400E probably benign Het
Dact2 C T 17: 14,416,833 (GRCm39) E456K probably benign Het
Ddr2 A G 1: 169,818,178 (GRCm39) V443A probably benign Het
Dlg3 A T X: 99,840,288 (GRCm39) probably benign Het
En1 C A 1: 120,531,486 (GRCm39) A242E unknown Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Gm6124 A T 7: 38,872,195 (GRCm39) noncoding transcript Het
Gucy1a1 A T 3: 82,002,066 (GRCm39) F671Y possibly damaging Het
Hddc2 A T 10: 31,190,583 (GRCm39) M48L possibly damaging Het
Hepacam2 T A 6: 3,487,237 (GRCm39) Y40F probably benign Het
Ift80 A G 3: 68,871,023 (GRCm39) I191T probably damaging Het
Il19 T A 1: 130,862,750 (GRCm39) T58S possibly damaging Het
Itga2 G A 13: 115,002,709 (GRCm39) R594C probably damaging Het
Itga5 C T 15: 103,260,684 (GRCm39) probably null Het
Kcna1 T C 6: 126,618,838 (GRCm39) D494G probably damaging Het
Kcnv1 G A 15: 44,977,840 (GRCm39) T66M probably damaging Het
Kmt2b A T 7: 30,281,261 (GRCm39) probably null Het
Kmt5b T C 19: 3,852,193 (GRCm39) Y125H possibly damaging Het
Lbr C T 1: 181,648,267 (GRCm39) C398Y probably damaging Het
Lmf1 T C 17: 25,873,455 (GRCm39) L320P probably damaging Het
Man1c1 T A 4: 134,291,096 (GRCm39) D600V probably damaging Het
Mapkapk3 T C 9: 107,136,131 (GRCm39) probably benign Het
Mccc1 A G 3: 36,044,217 (GRCm39) V203A probably damaging Het
Mettl5 T C 2: 69,711,176 (GRCm39) N114S probably benign Het
Mindy2 T A 9: 70,538,376 (GRCm39) R320W probably damaging Het
Nrip1 A G 16: 76,088,876 (GRCm39) S894P probably benign Het
Nup210l A T 3: 90,114,633 (GRCm39) H1736L probably benign Het
Or14c46 A T 7: 85,918,968 (GRCm39) F10I probably damaging Het
Or2v2 T A 11: 49,004,254 (GRCm39) I100L probably benign Het
Or2z9 A G 8: 72,853,612 (GRCm39) T3A probably benign Het
Or4e1 T C 14: 52,701,442 (GRCm39) N8S probably damaging Het
Or6b6 A C 7: 106,570,918 (GRCm39) L211R probably damaging Het
Or8d2b A G 9: 38,788,609 (GRCm39) I46V probably damaging Het
Pcdhb5 T A 18: 37,455,734 (GRCm39) S705T possibly damaging Het
Phf14 C T 6: 11,987,096 (GRCm39) P559S probably damaging Het
Plpp4 A G 7: 128,909,356 (GRCm39) E22G probably damaging Het
Ppp4c A G 7: 126,391,231 (GRCm39) probably null Het
Rps15a-ps1 A G 10: 106,028,496 (GRCm39) noncoding transcript Het
Rps27a A G 11: 29,495,933 (GRCm39) Y140H probably benign Het
Sash1 A G 10: 8,606,006 (GRCm39) S795P possibly damaging Het
Slc22a21 T C 11: 53,860,329 (GRCm39) D34G probably damaging Het
Srsf6 T C 2: 162,776,636 (GRCm39) probably benign Het
Stk32c T C 7: 138,700,704 (GRCm39) probably null Het
Tmem237 A G 1: 59,158,995 (GRCm39) probably benign Het
Ttc19 A G 11: 62,176,753 (GRCm39) probably null Het
Ttf2 T C 3: 100,870,077 (GRCm39) D332G probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vcan A G 13: 89,873,605 (GRCm39) V83A probably damaging Het
Vmn1r192 T A 13: 22,371,465 (GRCm39) I252F probably damaging Het
Vmn2r101 A T 17: 19,832,303 (GRCm39) R766S probably damaging Het
Xndc1 T A 7: 101,730,694 (GRCm39) L288M possibly damaging Het
Zfa-ps A T 10: 52,419,807 (GRCm39) noncoding transcript 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
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'- TTATCCTGCCCTGGAGTGTG -3'
(R):5'- GGATAACTCCAGTAGGCTCCTG -3'

Sequencing Primer
(F):5'- GGTATGAGCGAGGTCTCATATATG -3'
(R):5'- GTGGGGATCCTCAACTCCATAGTAC -3'
Posted On 2015-06-20