Incidental Mutation 'R6249:Or2aj4'
ID 505879
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6249 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 19384690-19385631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 19384725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 303 (N303Y)
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: N303Y

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000087516
Gene: ENSMUSG00000068535
AA Change: N303Y

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: N303Y

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215476
AA Change: N303Y

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000216070
AA Change: N303Y

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik A T 7: 115,702,505 (GRCm39) S90C probably damaging Het
Abca9 T C 11: 110,036,453 (GRCm39) D552G probably benign Het
Adgrb3 A G 1: 25,471,639 (GRCm39) L502P probably damaging Het
Agmo T C 12: 37,293,837 (GRCm39) probably null Het
Ank3 A G 10: 69,658,906 (GRCm39) probably null Het
Apol11b G T 15: 77,519,537 (GRCm39) T181K probably benign Het
Arap2 G T 5: 62,803,536 (GRCm39) H1244N probably damaging Het
Arid1b A T 17: 5,329,636 (GRCm39) M838L possibly damaging Het
Aste1 G A 9: 105,273,816 (GRCm39) V19I probably benign Het
B3gnt3 A T 8: 72,145,306 (GRCm39) M354K probably damaging Het
Calcr A T 6: 3,692,711 (GRCm39) M381K possibly damaging Het
Ccdc63 A C 5: 122,263,062 (GRCm39) L160W probably benign Het
Cerkl A G 2: 79,199,122 (GRCm39) L156P probably damaging Het
Csnk2a1-ps3 A G 1: 156,352,800 (GRCm39) M334V probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Ddb1 C A 19: 10,583,084 (GRCm39) Y5* probably null Het
Fignl2 T C 15: 100,952,060 (GRCm39) E74G possibly damaging Het
Glb1l2 C T 9: 26,676,850 (GRCm39) probably benign Het
Gm16503 A G 4: 147,625,508 (GRCm39) M1V probably null Het
Gm2696 A C 10: 77,630,646 (GRCm39) probably benign Het
Gm45844 A G 7: 7,243,092 (GRCm39) S20P probably benign Het
Gm7579 C T 7: 141,765,743 (GRCm39) P50S unknown Het
Idh1 A G 1: 65,205,378 (GRCm39) S196P probably damaging Het
Il1rap T C 16: 26,511,598 (GRCm39) V214A possibly damaging Het
Kctd17 C G 15: 78,314,239 (GRCm39) probably null Het
Lama1 G T 17: 68,105,599 (GRCm39) V2036L probably benign Het
Lars1 G T 18: 42,390,271 (GRCm39) probably null Het
Mdn1 T A 4: 32,708,484 (GRCm39) V1670E possibly damaging Het
Mtmr7 A T 8: 41,034,524 (GRCm39) I266N probably damaging Het
Ncapd3 GGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTG 9: 26,999,349 (GRCm39) probably benign Het
Nckap5 T C 1: 125,952,667 (GRCm39) E1295G probably benign Het
Nrxn3 T A 12: 89,221,448 (GRCm39) V409D probably damaging Het
Or13p3 A G 4: 118,566,910 (GRCm39) Y102C probably damaging Het
Or2a5 G T 6: 42,874,238 (GRCm39) L284F probably damaging Het
Or51q1 A T 7: 103,628,818 (GRCm39) S140C possibly damaging Het
Or5h22 T C 16: 58,894,795 (GRCm39) Y216C probably damaging Het
Or8b44 T G 9: 38,410,880 (GRCm39) I305R unknown Het
Pcdha4 T A 18: 37,086,729 (GRCm39) V304E probably damaging Het
Pde6c T C 19: 38,147,008 (GRCm39) probably null Het
Pebp4 A T 14: 70,297,099 (GRCm39) T213S possibly damaging Het
Phf2 C A 13: 48,959,348 (GRCm39) R886L unknown Het
Pik3ca A T 3: 32,515,712 (GRCm39) H795L probably damaging Het
Pisd G T 5: 32,896,188 (GRCm39) T379N probably damaging Het
Pld2 T C 11: 70,446,196 (GRCm39) L732P probably damaging Het
Pskh1 A G 8: 106,639,617 (GRCm39) D99G possibly damaging Het
Rest A G 5: 77,429,071 (GRCm39) T497A probably benign Het
Rps24 C T 14: 24,543,530 (GRCm39) T108M possibly damaging Het
Rtel1 C T 2: 180,993,475 (GRCm39) R566C probably damaging Het
Scyl2 A G 10: 89,493,719 (GRCm39) S350P possibly damaging Het
Slc38a7 G T 8: 96,564,302 (GRCm39) probably null Het
Sox5 A G 6: 143,779,009 (GRCm39) I674T probably benign Het
Spata31f1a A T 4: 42,850,528 (GRCm39) W543R probably benign Het
Surf4 C A 2: 26,816,899 (GRCm39) E39D probably damaging Het
Tas2r144 T A 6: 42,192,291 (GRCm39) Y10* probably null Het
Thbs4 C T 13: 92,911,215 (GRCm39) G323R probably damaging Het
Top2b A G 14: 16,399,006 (GRCm38) Y542C probably damaging Het
Trim61 A G 8: 65,467,108 (GRCm39) V51A probably benign Het
Tyrp1 T A 4: 80,769,009 (GRCm39) I501N possibly damaging Het
U2surp C T 9: 95,382,869 (GRCm39) D32N probably benign Het
Ush1c T C 7: 45,864,383 (GRCm39) Y411C probably damaging Het
Vwa7 G A 17: 35,242,365 (GRCm39) V490I probably benign Het
Xylt1 G T 7: 117,266,528 (GRCm39) A849S probably benign Het
Ythdc1 T A 5: 86,979,815 (GRCm39) N599K possibly damaging Het
Zbtb38 T A 9: 96,568,045 (GRCm39) Y1013F probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zswim9 T C 7: 12,994,903 (GRCm39) S418G 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
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
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'- AGACTTTACCATGGGCATCTG -3'
(R):5'- TCCAAATGCAGTCATCAGGG -3'

Sequencing Primer
(F):5'- ACCATGGGCATCTGTATACAG -3'
(R):5'- GGCCCGGCAAAAGTCCTTTTC -3'
Posted On 2018-02-28