Incidental Mutation 'IGL03136:Or2aj4'
ID 410510
Institutional Source Australian Phenomics Network (link to record)
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: 0.064) question?
Stock # IGL03136
Quality Score
Status
Chromosome 16
Chromosomal Location 19384690-19385631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 19385103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 177 (F177I)
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: F177I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087516
Gene: ENSMUSG00000068535
AA Change: F177I

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: F177I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000215476
AA Change: F177I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000216070
AA Change: F177I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730522E02Rik A G 11: 25,719,122 (GRCm39) L7S unknown Het
Abr C T 11: 76,316,121 (GRCm39) W571* probably null Het
Adam18 A T 8: 25,131,852 (GRCm39) C420S probably damaging Het
Akap5 G T 12: 76,376,649 (GRCm39) E694* probably null Het
Bbs1 T C 19: 4,941,019 (GRCm39) K565R probably benign Het
Brix1 A G 15: 10,478,852 (GRCm39) F189S probably damaging Het
Cnot4 C A 6: 35,028,176 (GRCm39) R480L probably damaging Het
Ctu2 A G 8: 123,205,940 (GRCm39) probably benign Het
Dhcr7 A G 7: 143,401,103 (GRCm39) H422R probably damaging Het
Dock1 A G 7: 134,770,118 (GRCm39) M1793V probably benign Het
Dock7 A G 4: 98,892,028 (GRCm39) F853L probably damaging Het
Fkbp15 G A 4: 62,258,466 (GRCm39) probably benign Het
Ftsj3 C T 11: 106,144,639 (GRCm39) D117N probably damaging Het
Gphn A G 12: 78,528,107 (GRCm39) I142V possibly damaging Het
Hsd3b1 G A 3: 98,760,301 (GRCm39) A230V probably damaging Het
Hydin G A 8: 111,145,156 (GRCm39) A836T probably benign Het
Ift52 G T 2: 162,867,254 (GRCm39) E71* probably null Het
Ms4a14 T C 19: 11,281,775 (GRCm39) D261G possibly damaging Het
Nid1 G A 13: 13,675,084 (GRCm39) V935I probably benign Het
Nrap T C 19: 56,330,687 (GRCm39) K1008E possibly damaging Het
Nup210 A C 6: 91,005,843 (GRCm39) V1340G probably benign Het
Or5b94 T A 19: 12,652,331 (GRCm39) I254N probably damaging Het
Or8d6 T C 9: 39,854,332 (GRCm39) Y259H probably damaging Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Pdcd6ip T A 9: 113,520,567 (GRCm39) N139I probably damaging Het
Pgbd1 A G 13: 21,617,609 (GRCm39) V80A possibly damaging Het
Pigw A G 11: 84,768,603 (GRCm39) I242T probably benign Het
Prtg T G 9: 72,764,267 (GRCm39) V580G possibly damaging Het
Ptpn13 T A 5: 103,691,329 (GRCm39) N1065K possibly damaging Het
Qrich1 G A 9: 108,422,117 (GRCm39) R577H probably damaging Het
Ryr3 G A 2: 112,506,319 (GRCm39) probably benign Het
Selenoi T C 5: 30,462,725 (GRCm39) Y197H probably damaging Het
Slc47a2 A G 11: 61,201,591 (GRCm39) C343R probably benign Het
Smurf2 A T 11: 106,721,874 (GRCm39) D527E probably benign Het
Spam1 C T 6: 24,797,010 (GRCm39) probably benign Het
Stkld1 T C 2: 26,841,435 (GRCm39) V460A probably benign Het
Tgoln1 G A 6: 72,591,096 (GRCm39) R339W probably damaging Het
Tprg1 T C 16: 25,231,512 (GRCm39) probably benign Het
Treml1 T G 17: 48,671,879 (GRCm39) probably benign Het
Ttc39b A T 4: 83,155,517 (GRCm39) V497E probably damaging Het
Vmn1r223 A G 13: 23,433,933 (GRCm39) T176A possibly damaging Het
Vmn2r75 A T 7: 85,797,911 (GRCm39) I634N possibly damaging Het
Vps13c A G 9: 67,857,592 (GRCm39) E2608G probably damaging Het
Zfp575 A G 7: 24,285,381 (GRCm39) C87R probably damaging Het
Zfp790 T A 7: 29,529,320 (GRCm39) Y668* probably null 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
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
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
Posted On 2016-08-02