Incidental Mutation 'R8959:Or5j1'
ID 682202
Institutional Source Beutler Lab
Gene Symbol Or5j1
Ensembl Gene ENSMUSG00000075164
Gene Name olfactory receptor family 5 subfamily J member 1
Synonyms GA_x6K02T2Q125-48541463-48540525, Olfr1106, MOR172-8_p, MOR172-6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R8959 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 86878640-86879578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86879551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 10 (T10S)
Ref Sequence ENSEMBL: ENSMUSP00000149092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099867] [ENSMUST00000213781] [ENSMUST00000217650]
AlphaFold Q7TR57
Predicted Effect possibly damaging
Transcript: ENSMUST00000099867
AA Change: T10S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097452
Gene: ENSMUSG00000075164
AA Change: T10S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.2e-53 PFAM
Pfam:7tm_1 41 290 1e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213781
AA Change: T10S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217650
AA Change: T10S

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (48/48)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp4 G T 7: 43,906,399 (GRCm39) T51K possibly damaging Het
Angel2 C T 1: 190,665,332 (GRCm39) R88C probably damaging Het
Ankrd13b G A 11: 77,367,452 (GRCm39) R181C probably damaging Het
Bmal2 T C 6: 146,722,142 (GRCm39) C238R probably benign Het
Brd3 C T 2: 27,354,013 (GRCm39) R33Q probably damaging Het
Ccdc106 T A 7: 5,060,500 (GRCm39) L20Q probably benign Het
Ccdc117 A T 11: 5,491,421 (GRCm39) V62D possibly damaging Het
Ccnt1 T C 15: 98,441,096 (GRCm39) probably benign Het
Cfap95 T C 19: 23,536,385 (GRCm39) E174G possibly damaging Het
Cmip G A 8: 118,138,054 (GRCm39) V178I probably benign Het
Cnnm3 A G 1: 36,558,096 (GRCm39) E436G probably damaging Het
Dcaf11 A G 14: 55,806,761 (GRCm39) N488S probably benign Het
Dlg2 A T 7: 90,501,927 (GRCm39) K80* probably null Het
Dnase1l2 T A 17: 24,661,642 (GRCm39) D39V probably damaging Het
Dysf A G 6: 84,078,945 (GRCm39) D708G probably benign Het
Enpep A T 3: 129,113,090 (GRCm39) L278Q probably damaging Het
Ephb6 C T 6: 41,590,293 (GRCm39) A15V probably benign Het
Flt3 T G 5: 147,303,774 (GRCm39) Q388P possibly damaging Het
Hltf A G 3: 20,136,936 (GRCm39) Y329C probably damaging Het
Hmcn2 C T 2: 31,282,159 (GRCm39) P1924S probably damaging Het
Iba57 A G 11: 59,052,461 (GRCm39) V122A probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Irak2 T A 6: 113,624,702 (GRCm39) M66K probably damaging Het
Mkrn2os G C 6: 115,562,317 (GRCm39) S215R probably benign Het
Mpped1 G A 15: 83,676,342 (GRCm39) R36Q probably damaging Het
Myh1 C A 11: 67,102,328 (GRCm39) A873E probably benign Het
Nedd9 G T 13: 41,469,758 (GRCm39) A465D probably damaging Het
Nr2f1 G T 13: 78,337,873 (GRCm39) Y257* probably null Het
Omd A G 13: 49,745,790 (GRCm39) E400G possibly damaging Het
Or6c202 A G 10: 128,996,484 (GRCm39) I123T probably damaging Het
Patj T C 4: 98,480,212 (GRCm39) S1306P probably damaging Het
Pdzph1 T C 17: 59,281,599 (GRCm39) K228E probably damaging Het
Prl2c5 A G 13: 13,365,392 (GRCm39) probably benign Het
Rad18 T C 6: 112,605,444 (GRCm39) E410G probably damaging Het
Rp1 T A 1: 4,419,650 (GRCm39) probably benign Het
Runx3 C T 4: 134,902,968 (GRCm39) S366L probably damaging Het
Ssh3 T A 19: 4,318,590 (GRCm39) R30S probably damaging Het
Stxbp5l ATTTT ATTTTT 16: 37,036,414 (GRCm39) probably null Het
Taf6l A G 19: 8,750,690 (GRCm39) F128S possibly damaging Het
Tmc6 A C 11: 117,661,293 (GRCm39) probably null Het
Trpc3 T G 3: 36,709,258 (GRCm39) Q406P probably benign Het
Uncx C A 5: 139,529,826 (GRCm39) Y26* probably null Het
Urb1 T C 16: 90,571,005 (GRCm39) D1268G probably benign Het
Wif1 T C 10: 120,931,957 (GRCm39) C294R probably damaging Het
Zfp521 C A 18: 13,979,137 (GRCm39) L425F probably damaging Het
Zfp78 A G 7: 6,382,380 (GRCm39) R477G probably damaging Het
Other mutations in Or5j1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Or5j1 APN 2 86,878,632 (GRCm39) utr 3 prime probably benign
IGL02326:Or5j1 APN 2 86,879,355 (GRCm39) missense possibly damaging 0.82
IGL03087:Or5j1 APN 2 86,879,356 (GRCm39) missense possibly damaging 0.90
R0040:Or5j1 UTSW 2 86,879,548 (GRCm39) missense probably damaging 1.00
R0256:Or5j1 UTSW 2 86,879,400 (GRCm39) missense probably damaging 1.00
R0487:Or5j1 UTSW 2 86,878,837 (GRCm39) missense probably damaging 0.96
R0730:Or5j1 UTSW 2 86,879,492 (GRCm39) missense probably benign 0.00
R1978:Or5j1 UTSW 2 86,879,179 (GRCm39) missense possibly damaging 0.83
R5335:Or5j1 UTSW 2 86,879,509 (GRCm39) missense probably damaging 1.00
R6611:Or5j1 UTSW 2 86,879,577 (GRCm39) start codon destroyed probably null 1.00
R6681:Or5j1 UTSW 2 86,878,942 (GRCm39) missense probably benign 0.22
R7322:Or5j1 UTSW 2 86,878,823 (GRCm39) nonsense probably null
R7584:Or5j1 UTSW 2 86,879,478 (GRCm39) missense probably benign 0.19
R7731:Or5j1 UTSW 2 86,879,578 (GRCm39) start codon destroyed probably null 0.99
R8011:Or5j1 UTSW 2 86,879,190 (GRCm39) missense probably damaging 1.00
R9102:Or5j1 UTSW 2 86,879,171 (GRCm39) missense possibly damaging 0.71
Z1088:Or5j1 UTSW 2 86,878,777 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TAGCAATGTGGGTGCAAATACTG -3'
(R):5'- TTCATGGGGAGGTGCCATAAG -3'

Sequencing Primer
(F):5'- TGTGGGTGCAAATACTGATGAATAAC -3'
(R):5'- TGGGGAGGTGCCATAAGTATTATAC -3'
Posted On 2021-08-31