Incidental Mutation 'R4689:Or2aj4'
ID 354795
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 041940-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R4689 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 19384690-19385631 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 19385263 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 123 (Y123*)
Ref Sequence ENSEMBL: ENSMUSP00000150528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090062] [ENSMUST00000215040] [ENSMUST00000215476] [ENSMUST00000216070]
AlphaFold Q7TS53
Predicted Effect probably null
Transcript: ENSMUST00000090062
AA Change: Y123*
SMART Domains Protein: ENSMUSP00000087516
Gene: ENSMUSG00000068535
AA Change: Y123*

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 null
Transcript: ENSMUST00000215040
AA Change: Y123*
Predicted Effect probably null
Transcript: ENSMUST00000215476
AA Change: Y123*
Predicted Effect probably null
Transcript: ENSMUST00000216070
AA Change: Y123*
Meta Mutation Damage Score 0.9716 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
Validation Efficiency 97% (72/74)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 C A 17: 46,634,996 (GRCm39) V336L probably benign Het
Acbd4 T C 11: 102,996,194 (GRCm39) L165P possibly damaging Het
Adam10 T C 9: 70,673,236 (GRCm39) S456P possibly damaging Het
Adgre4 T C 17: 56,109,096 (GRCm39) F368L probably damaging Het
Ahcyl1 G T 3: 107,572,834 (GRCm39) Y528* probably null Het
Aldh3b3 G A 19: 4,014,516 (GRCm39) V84M probably damaging Het
Cdca8 C T 4: 124,824,896 (GRCm39) G78E probably damaging Het
Cry2 T C 2: 92,254,899 (GRCm39) D152G probably benign Het
Cyp2c67 T C 19: 39,627,032 (GRCm39) Y266C probably benign Het
Dkk4 T C 8: 23,115,336 (GRCm39) F62S probably benign Het
Dnah12 G A 14: 26,427,994 (GRCm39) V207I probably benign Het
Dthd1 T C 5: 63,000,255 (GRCm39) C526R probably damaging Het
Dubr A T 16: 50,552,866 (GRCm39) noncoding transcript Het
F5 T C 1: 163,979,542 (GRCm39) probably benign Het
Flcn A C 11: 59,691,870 (GRCm39) W260G possibly damaging Het
Fmnl1 G A 11: 103,084,562 (GRCm39) probably null Het
Frem2 A T 3: 53,455,056 (GRCm39) D2173E probably benign Het
Fstl4 C T 11: 52,959,477 (GRCm39) Q173* probably null Het
Gfra3 G A 18: 34,823,640 (GRCm39) P381S unknown Het
Gm28308 C A 6: 52,190,291 (GRCm39) probably benign Het
Gm8730 T A 8: 103,592,379 (GRCm39) noncoding transcript Het
Gzmd T C 14: 56,368,683 (GRCm39) probably null Het
Hexb A G 13: 97,317,600 (GRCm39) Y366H probably damaging Het
Hydin A T 8: 111,322,046 (GRCm39) H4566L probably benign Het
Ifi213 G A 1: 173,417,986 (GRCm39) T142I possibly damaging Het
Kif13b T A 14: 65,010,513 (GRCm39) C1271S probably damaging Het
Krtap9-5 G T 11: 99,840,286 (GRCm39) C329F unknown Het
Larp1 G T 11: 57,932,439 (GRCm39) G207W probably damaging Het
Lfng A G 5: 140,600,194 (GRCm39) D368G probably damaging Het
Mbd5 G A 2: 49,148,291 (GRCm39) V834I possibly damaging Het
Mterf1b T A 5: 4,247,263 (GRCm39) Y301* probably null Het
Myh7b T C 2: 155,472,434 (GRCm39) I1305T possibly damaging Het
Myo16 T C 8: 10,488,890 (GRCm39) V687A probably damaging Het
Naip2 A T 13: 100,285,320 (GRCm39) I1292N probably damaging Het
Nmral1 A G 16: 4,532,422 (GRCm39) F130L probably damaging Het
Nos1 A G 5: 118,017,450 (GRCm39) N271S probably benign Het
Nrap A G 19: 56,374,458 (GRCm39) S23P probably damaging Het
Or12d16-ps1 A T 17: 37,705,662 (GRCm39) N77I probably damaging Het
Or4e2 T C 14: 52,688,671 (GRCm39) I267T probably benign Het
Or6c210 T C 10: 129,496,185 (GRCm39) V170A probably benign Het
Pkdcc C G 17: 83,523,290 (GRCm39) C132W probably damaging Het
Plekhg6 G A 6: 125,350,144 (GRCm39) L265F probably benign Het
Prkaa1 A G 15: 5,208,177 (GRCm39) T473A probably benign Het
Prpf3 G A 3: 95,743,801 (GRCm39) Q451* probably null Het
Psma5-ps T A 10: 85,150,065 (GRCm39) noncoding transcript Het
Ptprh T A 7: 4,600,996 (GRCm39) D127V possibly damaging Het
Rab36 T C 10: 74,877,765 (GRCm39) probably null Het
Rasa1 A T 13: 85,386,282 (GRCm39) Y427* probably null Het
Rgs11 T C 17: 26,423,521 (GRCm39) probably null Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Shank2 G A 7: 143,974,342 (GRCm39) V1087I probably benign Het
Slc39a10 A C 1: 46,875,173 (GRCm39) M43R probably benign Het
Slc40a1 T A 1: 45,951,473 (GRCm39) Q228L probably benign Het
Slc45a1 A T 4: 150,722,996 (GRCm39) L296Q probably benign Het
Stambpl1 A G 19: 34,213,691 (GRCm39) T307A probably benign Het
Stt3a T C 9: 36,644,225 (GRCm39) T705A possibly damaging Het
Tec G A 5: 72,980,980 (GRCm39) probably benign Het
Trp63 A T 16: 25,684,012 (GRCm39) T300S possibly damaging Het
Vmn1r235 A G 17: 21,482,623 (GRCm39) H316R probably benign Het
Vmn2r1 A G 3: 64,012,074 (GRCm39) H645R possibly damaging Het
Wdfy4 A G 14: 32,831,505 (GRCm39) I907T possibly damaging Het
Zcchc10 A G 11: 53,218,151 (GRCm39) T33A probably benign Het
Zfp318 T A 17: 46,710,560 (GRCm39) V761D probably damaging Het
Zfp358 T C 8: 3,546,146 (GRCm39) probably null Het
Zfp661 G A 2: 127,419,468 (GRCm39) P224L probably damaging Het
Zfp937 T C 2: 150,078,706 (GRCm39) M33T probably damaging Het
Zfp955a T C 17: 33,461,040 (GRCm39) H364R 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
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'- TCAACATGGCAGGGACTTCG -3'
(R):5'- AGGGATTCTCGACTCCATACCC -3'

Sequencing Primer
(F):5'- TCGCAGAAAAAGTGATCAATGGCTC -3'
(R):5'- GGATTCTCGACTCCATACCCCAATG -3'
Posted On 2015-10-21