Incidental Mutation 'R0519:Or1j1'
ID 48365
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 038712-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # R0519 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 36702161-36703102 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36702627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 159 (H159L)
Ref Sequence ENSEMBL: ENSMUSP00000149118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100151] [ENSMUST00000213988]
AlphaFold Q60879
Predicted Effect probably damaging
Transcript: ENSMUST00000100151
AA Change: H159L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097728
Gene: ENSMUSG00000075384
AA Change: H159L

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 damaging
Transcript: ENSMUST00000213988
AA Change: H159L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.5145 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency 99% (74/75)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,696,067 (GRCm39) R168G probably benign Het
2810004N23Rik C T 8: 125,566,668 (GRCm39) G251R possibly damaging Het
3425401B19Rik A G 14: 32,384,919 (GRCm39) S349P possibly damaging Het
Ackr4 A G 9: 103,976,650 (GRCm39) V99A probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Asxl3 A G 18: 22,656,577 (GRCm39) Q1529R possibly damaging Het
Atg12 T C 18: 46,874,477 (GRCm39) E46G probably benign Het
Cdcp2 A G 4: 106,964,389 (GRCm39) probably benign Het
Clasrp A G 7: 19,318,089 (GRCm39) probably benign Het
Clip2 A G 5: 134,545,005 (GRCm39) V383A probably benign Het
Cntln C T 4: 84,923,290 (GRCm39) probably benign Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Csmd2 A C 4: 128,380,798 (GRCm39) Y2118S possibly damaging Het
Dip2c T A 13: 9,613,244 (GRCm39) V415E probably damaging Het
Dpy19l2 C T 9: 24,469,391 (GRCm39) R755Q probably benign Het
Dsn1 A T 2: 156,840,633 (GRCm39) probably benign Het
Dtd2 T C 12: 52,051,742 (GRCm39) probably benign Het
Dync1i1 A G 6: 6,027,399 (GRCm39) T602A probably benign Het
Ercc6 A C 14: 32,248,799 (GRCm39) D450A probably damaging Het
Fgf12 A T 16: 28,008,380 (GRCm39) V104D probably benign Het
Frem1 A T 4: 82,888,870 (GRCm39) probably null Het
Gcgr G T 11: 120,426,982 (GRCm39) W88L probably damaging Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Hapln1 A G 13: 89,732,835 (GRCm39) probably benign Het
Hmgn3 T C 9: 82,994,301 (GRCm39) E40G probably damaging Het
Hsdl1 G A 8: 120,292,450 (GRCm39) A255V probably damaging Het
Hyls1 T C 9: 35,472,499 (GRCm39) K306E probably damaging Het
Jcad C T 18: 4,649,122 (GRCm39) probably benign Het
Kif14 C A 1: 136,396,885 (GRCm39) A397E probably damaging Het
Lcmt2 A T 2: 120,969,825 (GRCm39) probably null Het
Lifr T C 15: 7,207,061 (GRCm39) L524P probably damaging Het
Ly6g6f T C 17: 35,301,828 (GRCm39) K209E possibly damaging Het
Macf1 G A 4: 123,365,113 (GRCm39) T1651I probably benign Het
Mapk4 T C 18: 74,103,392 (GRCm39) D39G probably damaging Het
Mbl1 A G 14: 40,880,522 (GRCm39) M137V probably damaging Het
Mcm10 G A 2: 5,013,356 (GRCm39) S92L probably benign Het
Mug1 A G 6: 121,828,383 (GRCm39) K265R possibly damaging Het
Mxra7 A G 11: 116,701,612 (GRCm39) probably null Het
Neu3 G A 7: 99,472,524 (GRCm39) probably benign Het
Nsd1 A G 13: 55,460,648 (GRCm39) T2395A probably benign Het
Or5m9 A T 2: 85,877,411 (GRCm39) Y195F probably benign Het
Or6s1 T A 14: 51,308,614 (GRCm39) I79F probably damaging Het
Or7g34 A T 9: 19,478,245 (GRCm39) I145N probably benign Het
Osgepl1 T C 1: 53,360,255 (GRCm39) V327A probably damaging Het
Pcdhb21 T C 18: 37,649,085 (GRCm39) V738A possibly damaging Het
Plekha8 A T 6: 54,599,092 (GRCm39) probably benign Het
Ptprq A C 10: 107,374,781 (GRCm39) probably benign Het
Pus10 T A 11: 23,661,201 (GRCm39) F263Y probably benign Het
Rad54b A T 4: 11,599,809 (GRCm39) I338F probably damaging Het
Rad54l2 A G 9: 106,585,498 (GRCm39) F756L probably damaging Het
Scn11a A G 9: 119,619,185 (GRCm39) L719P probably damaging Het
Slc2a2 G A 3: 28,772,965 (GRCm39) V253I possibly damaging Het
Slc39a4 A T 15: 76,499,338 (GRCm39) N192K probably benign Het
Soat1 T A 1: 156,268,816 (GRCm39) I245F probably damaging Het
Sorcs2 G A 5: 36,188,534 (GRCm39) A858V probably benign Het
Tcim T C 8: 24,928,651 (GRCm39) T88A possibly damaging Het
Tecta G A 9: 42,259,188 (GRCm39) probably benign Het
Tgm5 C A 2: 120,879,376 (GRCm39) L553F probably damaging Het
Tjp1 A G 7: 64,952,669 (GRCm39) V1555A probably benign Het
Tmem214 A C 5: 31,027,012 (GRCm39) M1L probably null Het
Togaram1 T C 12: 65,012,776 (GRCm39) probably benign Het
Topaz1 C A 9: 122,578,544 (GRCm39) L485I possibly damaging Het
Ttn T C 2: 76,548,626 (GRCm39) probably benign Het
Ube2o A G 11: 116,437,285 (GRCm39) probably null Het
Ubr7 T A 12: 102,734,465 (GRCm39) D246E probably benign Het
Vcpkmt T C 12: 69,629,102 (GRCm39) D132G probably benign Het
Vmn2r111 T A 17: 22,792,102 (GRCm39) Q51H probably benign Het
Vmn2r95 C T 17: 18,659,765 (GRCm39) P170S probably damaging Het
Zbtb38 A G 9: 96,567,826 (GRCm39) I1086T probably damaging Het
Zfp444 G A 7: 6,191,172 (GRCm39) A118T probably benign Het
Zp2 A G 7: 119,737,372 (GRCm39) I272T probably 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
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
R4378:Or1j1 UTSW 2 36,702,481 (GRCm39) missense probably benign
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'- GGTGAACCCAATACGGCCATAAGAG -3'
(R):5'- TCAGCCATTTGGCCTTCACAGAC -3'

Sequencing Primer
(F):5'- CCCAATACGGCCATAAGAGATGAG -3'
(R):5'- ACCCATTACCTATGAGGAGTGTG -3'
Posted On 2013-06-12