Incidental Mutation 'R0487:Or5j1'
ID 42323
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
MMRRC Submission 038686-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R0487 (G1)
Quality Score 142
Status Not validated
Chromosome 2
Chromosomal Location 86878640-86879578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86878837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 248 (V248I)
Ref Sequence ENSEMBL: ENSMUSP00000149092 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099867] [ENSMUST00000213781] [ENSMUST00000217650]
AlphaFold Q7TR57
Predicted Effect probably damaging
Transcript: ENSMUST00000099867
AA Change: V248I

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097452
Gene: ENSMUSG00000075164
AA Change: V248I

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.2e-53 PFAM
Pfam:7tm_1 41 290 1e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213781
AA Change: V248I

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000217650
AA Change: V248I

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.6%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,281,687 (GRCm39) M3190L probably benign Het
Adgrv1 A T 13: 81,637,154 (GRCm39) L3429H probably damaging Het
Ahnak A G 19: 8,991,484 (GRCm39) D4256G probably damaging Het
Ahnak A G 19: 8,984,515 (GRCm39) N1933S probably benign Het
Amacr A G 15: 10,984,835 (GRCm39) D151G probably benign Het
Ano9 A T 7: 140,687,762 (GRCm39) H255Q possibly damaging Het
Asphd2 A T 5: 112,539,501 (GRCm39) Y111N possibly damaging Het
Cage1 T A 13: 38,209,334 (GRCm39) K214N probably benign Het
Cdkn2c A G 4: 109,518,606 (GRCm39) L116P probably damaging Het
Cltc C T 11: 86,624,490 (GRCm39) R148H probably damaging Het
Cmbl A G 15: 31,582,176 (GRCm39) N58D probably damaging Het
Cpa6 T C 1: 10,479,487 (GRCm39) T249A possibly damaging Het
Cpsf1 T A 15: 76,481,202 (GRCm39) N1218I probably damaging Het
Csf2rb T C 15: 78,232,531 (GRCm39) S613P probably benign Het
Ctnnd1 A G 2: 84,439,411 (GRCm39) S761P probably damaging Het
Cxcr6 A C 9: 123,639,463 (GRCm39) I155L probably benign Het
Ecpas A G 4: 58,819,155 (GRCm39) V1265A probably damaging Het
Fam216a A G 5: 122,508,576 (GRCm39) probably null Het
Fgf10 T A 13: 118,918,147 (GRCm39) probably null Het
Fgf17 T C 14: 70,875,996 (GRCm39) T79A probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gm1527 G T 3: 28,980,828 (GRCm39) V643L probably benign Het
Hmcn2 A T 2: 31,276,689 (GRCm39) Q1556L possibly damaging Het
Hspa4l C T 3: 40,738,758 (GRCm39) T616I possibly damaging Het
Irag2 A G 6: 145,110,986 (GRCm39) S264G probably benign Het
Irgm1 T C 11: 48,757,154 (GRCm39) D219G probably damaging Het
Jcad A G 18: 4,673,243 (GRCm39) D335G probably damaging Het
Kcnh4 A G 11: 100,641,084 (GRCm39) F455S probably damaging Het
Khdrbs3 T C 15: 68,889,210 (GRCm39) Y120H probably damaging Het
Kndc1 A T 7: 139,493,939 (GRCm39) T507S probably null Het
Lepr G T 4: 101,625,290 (GRCm39) E482* probably null Het
Mcemp1 T A 8: 3,717,507 (GRCm39) M146K probably benign Het
Mllt10 A G 2: 18,211,948 (GRCm39) T411A probably damaging Het
Myh8 A T 11: 67,192,837 (GRCm39) I1543L probably benign Het
Myo1f T C 17: 33,797,258 (GRCm39) S147P probably damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Plaat1 G A 16: 29,039,331 (GRCm39) probably null Het
Plch2 G A 4: 155,093,469 (GRCm39) R57C probably damaging Het
Rbm20 G A 19: 53,839,626 (GRCm39) G872R probably damaging Het
Retsat A T 6: 72,583,414 (GRCm39) I373F probably damaging Het
Rnf145 T C 11: 44,446,056 (GRCm39) F297L probably benign Het
Ros1 A T 10: 52,031,204 (GRCm39) M479K possibly damaging Het
Rubcnl T A 14: 75,273,521 (GRCm39) N244K probably benign Het
Samhd1 A G 2: 156,952,535 (GRCm39) F406L probably damaging Het
Sdsl A T 5: 120,597,533 (GRCm39) V258D probably damaging Het
Sec24c C G 14: 20,733,467 (GRCm39) P166A probably benign Het
Sele C A 1: 163,881,184 (GRCm39) Y461* probably null Het
Slc22a1 G T 17: 12,881,487 (GRCm39) S334* probably null Het
Spem1 T G 11: 69,712,691 (GRCm39) probably null Het
Stat3 T C 11: 100,794,469 (GRCm39) E280G probably damaging Het
Stxbp4 T C 11: 90,483,186 (GRCm39) H280R probably benign Het
Tas2r129 G A 6: 132,928,906 (GRCm39) C281Y probably benign Het
Tas2r129 T G 6: 132,928,907 (GRCm39) C281W probably benign Het
Tcp11 T A 17: 28,298,897 (GRCm39) probably null Het
Tnrc6b G A 15: 80,764,876 (GRCm39) V793M probably benign Het
Vmn2r59 A C 7: 41,696,528 (GRCm39) Y71* probably null Het
Wdr35 T C 12: 9,062,743 (GRCm39) probably null Het
Zan A G 5: 137,411,620 (GRCm39) probably null Het
Zap70 G T 1: 36,818,365 (GRCm39) V351L probably damaging Het
Zfp609 G T 9: 65,609,916 (GRCm39) Q1016K unknown Het
Zfp641 C A 15: 98,187,060 (GRCm39) V188L probably benign Het
Zpld2 A T 4: 133,930,089 (GRCm39) L72Q 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
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
R8959:Or5j1 UTSW 2 86,879,551 (GRCm39) missense possibly damaging 0.94
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'- ACCCATAGTTCCCATAGGCTGAAACTT -3'
(R):5'- ACACATCCATGAATGAACTGCTGCT -3'

Sequencing Primer
(F):5'- GCATTATTGCATGAATCAGTGTCC -3'
(R):5'- CATGAATGAACTGCTGCTTTTGG -3'
Posted On 2013-05-23