Incidental Mutation 'R4378:Or1j1'
ID 325178
Institutional Source Beutler Lab
Gene Symbol Or1j1
Ensembl Gene ENSMUSG00000075384
Gene Name olfactory receptor family 1 subfamily J member 1
Synonyms GA_x6K02T2NLDC-33507606-33506665, Olfr3, MOR136-14, Y71
MMRRC Submission 041121-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # R4378 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 36702161-36703102 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36702481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 208 (M208V)
Ref Sequence ENSEMBL: ENSMUSP00000149118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100151] [ENSMUST00000213988]
AlphaFold Q60879
Predicted Effect probably benign
Transcript: ENSMUST00000100151
AA Change: M208V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097728
Gene: ENSMUSG00000075384
AA Change: M208V

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 1.3e-61 PFAM
Pfam:7TM_GPCR_Srsx 35 220 2.9e-7 PFAM
Pfam:7tm_1 41 290 6.3e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120418
Predicted Effect probably benign
Transcript: ENSMUST00000213988
AA Change: M208V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0730 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (47/49)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,243,644 (GRCm39) K1836E probably benign Het
Adora1 A G 1: 134,130,948 (GRCm39) F241S probably damaging Het
Akt1s1 C T 7: 44,503,384 (GRCm39) T168M probably damaging Het
Amigo1 C T 3: 108,099,069 (GRCm39) probably benign Het
Amigo2 A G 15: 97,143,859 (GRCm39) F188L possibly damaging Het
Armc2 T C 10: 41,869,078 (GRCm39) T29A possibly damaging Het
Axl G A 7: 25,458,262 (GRCm39) A822V probably benign Het
Borcs5 T C 6: 134,621,292 (GRCm39) V21A probably benign Het
Cdc42ep3 A G 17: 79,642,408 (GRCm39) S171P probably benign Het
Cmas T C 6: 142,718,011 (GRCm39) probably benign Het
Cyp4f40 A G 17: 32,887,003 (GRCm39) N158S probably null Het
Dnah6 G T 6: 73,095,009 (GRCm39) N2139K probably benign Het
Elmo1 A T 13: 20,557,286 (GRCm39) H409L possibly damaging Het
Exoc1l A G 5: 76,648,380 (GRCm39) K62R probably damaging Het
Exoc4 T A 6: 33,792,622 (GRCm39) V584E probably damaging Het
Gm9116 A G 3: 93,817,786 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,710,161 (GRCm39) S101G probably benign Het
Hsph1 C A 5: 149,559,472 (GRCm39) E24* probably null Het
Ighv1-56 C T 12: 115,206,568 (GRCm39) E50K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lrriq1 A T 10: 103,038,225 (GRCm39) D859E probably damaging Het
Mapk7 G A 11: 61,384,493 (GRCm39) S71L probably damaging Het
Nars1 A G 18: 64,634,424 (GRCm39) Y500H probably damaging Het
Or5d20-ps1 G T 2: 87,931,829 (GRCm39) N167K unknown Het
Phc1 T C 6: 122,311,966 (GRCm39) N64S possibly damaging Het
Ppp4r3b T A 11: 29,159,450 (GRCm39) N180K possibly damaging Het
Primpol G A 8: 47,029,218 (GRCm39) probably benign Het
Prtg T C 9: 72,750,042 (GRCm39) S149P possibly damaging Het
Qrich2 T C 11: 116,337,741 (GRCm39) S1916G probably damaging Het
Rps6ka5 A T 12: 100,564,196 (GRCm39) Y218N probably damaging Het
Setbp1 T C 18: 78,899,833 (GRCm39) D1278G possibly damaging Het
Sirt1 C T 10: 63,174,728 (GRCm39) A8T probably benign Het
Sobp C T 10: 42,897,300 (GRCm39) V762I probably damaging Het
Sptan1 T C 2: 29,915,581 (GRCm39) S1994P probably damaging Het
Taok3 T C 5: 117,347,636 (GRCm39) I87T probably damaging Het
Tecta T C 9: 42,278,004 (GRCm39) Y1168C probably damaging Het
Trhr A G 15: 44,061,023 (GRCm39) Y181C probably damaging Het
Ube4b C T 4: 149,468,255 (GRCm39) D174N probably damaging Het
Ubr4 C T 4: 139,137,751 (GRCm39) H1067Y possibly damaging Het
Vmn2r86 A G 10: 130,288,469 (GRCm39) I344T possibly damaging Het
Vmn2r88 T A 14: 51,650,746 (GRCm39) L153* probably null Het
Zfp516 T A 18: 83,005,305 (GRCm39) D736E probably benign Het
Zfp612 G T 8: 110,815,683 (GRCm39) V258F possibly damaging Het
Other mutations in Or1j1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01523:Or1j1 APN 2 36,702,415 (GRCm39) missense probably benign
R0501:Or1j1 UTSW 2 36,702,492 (GRCm39) nonsense probably null
R0519:Or1j1 UTSW 2 36,702,627 (GRCm39) missense probably damaging 1.00
R0890:Or1j1 UTSW 2 36,702,586 (GRCm39) missense probably benign 0.06
R1353:Or1j1 UTSW 2 36,702,926 (GRCm39) missense possibly damaging 0.59
R1543:Or1j1 UTSW 2 36,703,069 (GRCm39) missense probably damaging 1.00
R3435:Or1j1 UTSW 2 36,702,690 (GRCm39) missense probably benign 0.06
R4585:Or1j1 UTSW 2 36,702,537 (GRCm39) missense probably damaging 1.00
R4586:Or1j1 UTSW 2 36,702,537 (GRCm39) missense probably damaging 1.00
R4626:Or1j1 UTSW 2 36,702,271 (GRCm39) missense probably damaging 0.98
R4714:Or1j1 UTSW 2 36,703,047 (GRCm39) missense probably benign 0.37
R4720:Or1j1 UTSW 2 36,702,484 (GRCm39) missense probably benign 0.03
R5390:Or1j1 UTSW 2 36,702,444 (GRCm39) missense probably benign
R5659:Or1j1 UTSW 2 36,702,966 (GRCm39) missense probably damaging 1.00
R5681:Or1j1 UTSW 2 36,702,693 (GRCm39) missense probably benign 0.18
R6750:Or1j1 UTSW 2 36,702,954 (GRCm39) missense possibly damaging 0.90
R7003:Or1j1 UTSW 2 36,703,047 (GRCm39) missense possibly damaging 0.51
R7353:Or1j1 UTSW 2 36,702,915 (GRCm39) missense probably damaging 1.00
R7514:Or1j1 UTSW 2 36,702,651 (GRCm39) missense probably benign 0.03
R8094:Or1j1 UTSW 2 36,702,330 (GRCm39) missense probably damaging 1.00
R8298:Or1j1 UTSW 2 36,703,038 (GRCm39) missense probably benign 0.02
R9189:Or1j1 UTSW 2 36,702,214 (GRCm39) missense possibly damaging 0.79
R9577:Or1j1 UTSW 2 36,702,567 (GRCm39) missense probably damaging 1.00
R9622:Or1j1 UTSW 2 36,702,621 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGAGTGACTACTGTGTACATTAC -3'
(R):5'- TCCTGGGTCATAGCTTCTGC -3'

Sequencing Primer
(F):5'- GTGACTACTGTGTACATTACTGAAGC -3'
(R):5'- GCTTCTGCTTGTGCTCTTTTG -3'
Posted On 2015-07-06