Incidental Mutation 'R5497:Or2aj4'
ID 432442
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 043058-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R5497 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 19384690-19385631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 19385080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 184 (M184I)
Ref Sequence ENSEMBL: ENSMUSP00000150528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090062] [ENSMUST00000215040] [ENSMUST00000215476] [ENSMUST00000216070]
AlphaFold Q7TS53
Predicted Effect probably benign
Transcript: ENSMUST00000090062
AA Change: M184I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000087516
Gene: ENSMUSG00000068535
AA Change: M184I

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 benign
Transcript: ENSMUST00000215040
AA Change: M184I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000215476
AA Change: M184I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000216070
AA Change: M184I

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.2%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A T 11: 72,056,360 (GRCm39) M800K probably benign Het
Abca9 G A 11: 110,021,518 (GRCm39) A1064V probably damaging Het
Acsm2 A T 7: 119,172,543 (GRCm39) T129S possibly damaging Het
Adamts9 A T 6: 92,831,346 (GRCm39) C755S probably damaging Het
Adarb1 T C 10: 77,161,723 (GRCm39) D2G probably damaging Het
Apaf1 G A 10: 90,835,518 (GRCm39) A1098V probably damaging Het
Asap3 A G 4: 135,966,533 (GRCm39) H537R probably benign Het
Atp2a2 C T 5: 122,596,232 (GRCm39) C887Y probably damaging Het
Atp6v0a1 G A 11: 100,920,011 (GRCm39) V215M probably damaging Het
Cacng8 A G 7: 3,464,069 (GRCm39) E407G probably benign Het
Capn8 G A 1: 182,447,745 (GRCm39) E535K probably benign Het
Cebpe A G 14: 54,948,052 (GRCm39) F264L probably benign Het
Ces1c A C 8: 93,857,343 (GRCm39) N79K possibly damaging Het
Cfap58 T G 19: 48,017,548 (GRCm39) S803A probably benign Het
Cpa1 A G 6: 30,640,729 (GRCm39) T124A probably benign Het
Csmd1 A G 8: 16,135,195 (GRCm39) S1654P probably benign Het
Dmbt1 A T 7: 130,665,133 (GRCm39) probably benign Het
Eif3e T C 15: 43,134,366 (GRCm39) Y127C probably damaging Het
Fhip2a G C 19: 57,369,583 (GRCm39) probably null Het
Galnt5 T C 2: 57,915,340 (GRCm39) M632T probably damaging Het
Gja8 A G 3: 96,827,513 (GRCm39) S50P probably damaging Het
Gon7 A G 12: 102,720,363 (GRCm39) S90P probably benign Het
Gucy2g C T 19: 55,187,133 (GRCm39) V1096I probably benign Het
Gxylt2 A G 6: 100,764,290 (GRCm39) N325S probably benign Het
H2-Ob A G 17: 34,460,144 (GRCm39) D85G probably benign Het
Heatr1 T A 13: 12,435,945 (GRCm39) I1161N possibly damaging Het
Hjurp G A 1: 88,194,042 (GRCm39) H289Y possibly damaging Het
Hsd3b7 A G 7: 127,401,060 (GRCm39) Y99C probably damaging Het
Ifnar1 T G 16: 91,302,252 (GRCm39) Y21D probably benign Het
Isoc2b C T 7: 4,853,782 (GRCm39) V131I probably benign Het
Klc3 T C 7: 19,128,595 (GRCm39) I500V probably benign Het
Lrp5 C A 19: 3,652,319 (GRCm39) G1184W probably damaging Het
Map2k4 A G 11: 65,626,031 (GRCm39) I136T probably damaging Het
Map3k7 T C 4: 31,991,719 (GRCm39) F319S possibly damaging Het
Muc5ac A G 7: 141,361,380 (GRCm39) T1564A probably damaging Het
Nptx2 A T 5: 144,492,999 (GRCm39) D362V probably damaging Het
Nutf2-ps1 A T 19: 53,577,265 (GRCm39) I52N probably damaging Het
Pkhd1 T A 1: 20,447,628 (GRCm39) Y2255F possibly damaging Het
Primpol A T 8: 47,045,657 (GRCm39) Y308* probably null Het
Retreg2 G A 1: 75,121,633 (GRCm39) V219I probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rph3a T A 5: 121,080,253 (GRCm39) E675V probably benign Het
Ryr2 A T 13: 11,720,587 (GRCm39) M2687K probably null Het
Shank2 A G 7: 143,963,271 (GRCm39) D293G probably damaging Het
Snx6 A G 12: 54,803,846 (GRCm39) V154A probably damaging Het
Srm G T 4: 148,678,566 (GRCm39) Q264H probably benign Het
Styk1 A T 6: 131,281,670 (GRCm39) I316N probably damaging Het
Syne2 A G 12: 75,927,163 (GRCm39) N103S probably benign Het
Tas2r105 G A 6: 131,663,805 (GRCm39) probably null Het
Tbcel T A 9: 42,363,041 (GRCm39) M1L possibly damaging Het
Tlr3 C T 8: 45,851,851 (GRCm39) D349N possibly damaging Het
Tm9sf3 T C 19: 41,203,555 (GRCm39) S574G probably benign Het
Usp31 A T 7: 121,250,824 (GRCm39) V783E probably damaging Het
Vmn2r61 T A 7: 41,924,906 (GRCm39) Y487N possibly damaging Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zfp980 A G 4: 145,428,017 (GRCm39) K249E 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
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
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'- GGCCCATAGTACATTATGACAAC -3'
(R):5'- GATCGATATGTGGCCATCTGC -3'

Sequencing Primer
(F):5'- GTACATTATGACAACAACCATGTGG -3'
(R):5'- GCCACCCACTTCGCTAC -3'
Posted On 2016-10-05