Incidental Mutation 'R5081:Or1j17'
ID 387110
Institutional Source Beutler Lab
Gene Symbol Or1j17
Ensembl Gene ENSMUSG00000094764
Gene Name olfactory receptor family 1 subfamily J member 17
Synonyms GA_x6K02T2NLDC-33382467-33383396, Olfr346, MOR136-11
MMRRC Submission 042670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R5081 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 36578016-36578945 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36578655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 214 (I214V)
Ref Sequence ENSEMBL: ENSMUSP00000149916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078854] [ENSMUST00000213258]
AlphaFold Q8VGJ7
Predicted Effect possibly damaging
Transcript: ENSMUST00000078854
AA Change: I214V

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000077897
Gene: ENSMUSG00000094764
AA Change: I214V

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.2e-58 PFAM
Pfam:7tm_1 41 290 1.3e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213258
AA Change: I214V

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
Meta Mutation Damage Score 0.1665 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 93% (65/70)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI593442 TGAGGAGGAGGAGGAGGA TGAGGAGGAGGAGGA 9: 52,589,114 (GRCm39) probably benign Het
Aig1 A G 10: 13,677,644 (GRCm39) I116T probably benign Het
Alox12 A T 11: 70,146,140 (GRCm39) probably null Het
Ap3s1 T A 18: 46,887,497 (GRCm39) D43E probably benign Het
Arhgap35 A G 7: 16,299,059 (GRCm39) M2T possibly damaging Het
Asah2 T A 19: 31,991,708 (GRCm39) E451V probably benign Het
Ash1l T G 3: 88,892,024 (GRCm39) I1301S probably damaging Het
Ass1 G A 2: 31,378,665 (GRCm39) probably null Het
Ccpg1 A G 9: 72,906,360 (GRCm39) T39A possibly damaging Het
Cd101 T A 3: 100,911,021 (GRCm39) Y879F possibly damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh23 T C 10: 60,272,586 (GRCm39) T530A possibly damaging Het
Cep68 G T 11: 20,188,477 (GRCm39) Q643K probably damaging Het
Ces1c A G 8: 93,854,197 (GRCm39) S113P probably damaging Het
Cnga4 T C 7: 105,056,232 (GRCm39) I278T probably benign Het
Col1a1 A G 11: 94,842,402 (GRCm39) D1440G unknown Het
Cspp1 A G 1: 10,117,691 (GRCm39) I48V possibly damaging Het
Ctsj T A 13: 61,151,664 (GRCm39) S85C possibly damaging Het
Cyp39a1 C A 17: 44,057,488 (GRCm39) D442E probably damaging Het
Dock3 A T 9: 106,868,292 (GRCm39) F664Y probably damaging Het
Gpcpd1 A T 2: 132,389,622 (GRCm39) H244Q probably benign Het
Gtf3a T A 5: 146,888,092 (GRCm39) V131E probably benign Het
Gtpbp3 A T 8: 71,943,026 (GRCm39) R147W probably damaging Het
H2-Oa A T 17: 34,313,344 (GRCm39) I132F probably damaging Het
Hsd17b8 G A 17: 34,246,552 (GRCm39) probably benign Het
Idi1 T A 13: 8,937,963 (GRCm39) C91* probably null Het
Itga11 A G 9: 62,662,478 (GRCm39) I484V probably benign Het
Kpna3 C T 14: 61,628,694 (GRCm39) S101N probably damaging Het
Larp4 G A 15: 99,870,898 (GRCm39) probably benign Het
Mink1 T C 11: 70,495,970 (GRCm39) L390P probably damaging Het
Morc1 T G 16: 48,322,715 (GRCm39) S337R probably benign Het
Myo10 A G 15: 25,786,026 (GRCm39) R1236G probably damaging Het
Nkx3-1 T C 14: 69,429,396 (GRCm39) I138T possibly damaging Het
Nnt T C 13: 119,502,936 (GRCm39) N489S probably damaging Het
Nrcam A T 12: 44,617,136 (GRCm39) I711F probably benign Het
Ntrk3 A G 7: 78,227,522 (GRCm39) S4P probably damaging Het
Obsl1 T C 1: 75,464,607 (GRCm39) T1605A possibly damaging Het
Or7g32 A G 9: 19,408,557 (GRCm39) E171G probably benign Het
Pank1 T C 19: 34,856,316 (GRCm39) H54R probably benign Het
Pgm2l1 A G 7: 99,917,472 (GRCm39) I530V probably benign Het
Psmd2 A G 16: 20,480,405 (GRCm39) T709A probably benign Het
Qsox1 G T 1: 155,688,581 (GRCm39) probably benign Het
Rbm14 A G 19: 4,852,823 (GRCm39) S520P probably benign Het
Rbm15b G A 9: 106,762,120 (GRCm39) R683C probably benign Het
Rhbdd2 T A 5: 135,664,876 (GRCm39) V69D probably damaging Het
Sart1 T C 19: 5,438,576 (GRCm39) E27G possibly damaging Het
Scn4a G A 11: 106,239,553 (GRCm39) P153L probably damaging Het
Serpinb6d A T 13: 33,855,230 (GRCm39) R301S probably benign Het
Sf3a2 C A 10: 80,640,275 (GRCm39) probably benign Het
Syne1 T C 10: 4,997,767 (GRCm39) D400G probably benign Het
Tenm2 T C 11: 35,915,460 (GRCm39) S2025G possibly damaging Het
Ttc16 A T 2: 32,657,988 (GRCm39) D476E probably damaging Het
Ttc9c A T 19: 8,793,396 (GRCm39) C81* probably null Het
Ulk2 G A 11: 61,694,488 (GRCm39) P474L probably damaging Het
Vmn1r66 A G 7: 10,008,722 (GRCm39) C104R probably damaging Het
Vwa2 C T 19: 56,897,752 (GRCm39) H686Y probably damaging Het
Other mutations in Or1j17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Or1j17 APN 2 36,578,550 (GRCm39) missense probably damaging 1.00
IGL01770:Or1j17 APN 2 36,578,117 (GRCm39) missense probably benign 0.02
IGL02110:Or1j17 APN 2 36,578,697 (GRCm39) missense probably benign
IGL02212:Or1j17 APN 2 36,578,194 (GRCm39) missense probably damaging 0.98
IGL02346:Or1j17 APN 2 36,578,016 (GRCm39) start codon destroyed probably benign 0.41
IGL02544:Or1j17 APN 2 36,578,848 (GRCm39) missense probably damaging 1.00
IGL02995:Or1j17 APN 2 36,578,644 (GRCm39) missense possibly damaging 0.56
IGL03154:Or1j17 APN 2 36,578,655 (GRCm39) missense possibly damaging 0.78
IGL03389:Or1j17 APN 2 36,578,274 (GRCm39) missense probably benign 0.12
R0100:Or1j17 UTSW 2 36,578,923 (GRCm39) missense probably benign 0.00
R0230:Or1j17 UTSW 2 36,578,628 (GRCm39) missense probably benign 0.01
R1559:Or1j17 UTSW 2 36,578,770 (GRCm39) missense probably damaging 1.00
R1560:Or1j17 UTSW 2 36,578,155 (GRCm39) missense probably damaging 1.00
R1614:Or1j17 UTSW 2 36,578,321 (GRCm39) nonsense probably null
R1697:Or1j17 UTSW 2 36,578,259 (GRCm39) missense probably damaging 1.00
R1738:Or1j17 UTSW 2 36,578,797 (GRCm39) missense probably benign 0.44
R1966:Or1j17 UTSW 2 36,578,796 (GRCm39) missense probably benign 0.01
R2021:Or1j17 UTSW 2 36,578,487 (GRCm39) missense probably benign
R2181:Or1j17 UTSW 2 36,578,346 (GRCm39) missense probably damaging 1.00
R4170:Or1j17 UTSW 2 36,578,734 (GRCm39) missense probably damaging 0.98
R4625:Or1j17 UTSW 2 36,578,083 (GRCm39) missense probably benign 0.06
R5335:Or1j17 UTSW 2 36,578,106 (GRCm39) missense probably benign
R5966:Or1j17 UTSW 2 36,578,074 (GRCm39) missense probably null 0.00
R5978:Or1j17 UTSW 2 36,578,694 (GRCm39) missense probably benign 0.07
R6110:Or1j17 UTSW 2 36,578,559 (GRCm39) missense probably benign 0.01
R6329:Or1j17 UTSW 2 36,578,694 (GRCm39) nonsense probably null
R7214:Or1j17 UTSW 2 36,578,107 (GRCm39) missense probably benign 0.35
R7301:Or1j17 UTSW 2 36,578,023 (GRCm39) missense probably benign
R7382:Or1j17 UTSW 2 36,578,046 (GRCm39) nonsense probably null
R7979:Or1j17 UTSW 2 36,578,106 (GRCm39) missense probably benign 0.03
R8218:Or1j17 UTSW 2 36,578,685 (GRCm39) missense probably benign 0.12
R8501:Or1j17 UTSW 2 36,578,809 (GRCm39) missense probably benign 0.00
R9406:Or1j17 UTSW 2 36,578,296 (GRCm39) missense possibly damaging 0.93
R9623:Or1j17 UTSW 2 36,578,778 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- GTCAATGCTCTTGTGCACACC -3'
(R):5'- GATTCAACATGGGTGTGACCAC -3'

Sequencing Primer
(F):5'- GTGCACACCCTTCTCTTGG -3'
(R):5'- GTGTGACCACAGTGTACATCATAGC -3'
Posted On 2016-06-06