Incidental Mutation 'R0312:Or1j4'
ID 25245
Institutional Source Beutler Lab
Gene Symbol Or1j4
Ensembl Gene ENSMUSG00000050015
Gene Name olfactory receptor family 1 subfamily J member 4
Synonyms MOR136-13, Olfr350, GA_x6K02T2NLDC-33544602-33545540
MMRRC Submission 038522-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.275) question?
Stock # R0312 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 36740060-36740998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36740372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 105 (I105L)
Ref Sequence ENSEMBL: ENSMUSP00000149667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055130] [ENSMUST00000214457] [ENSMUST00000215100]
AlphaFold Q8VFP8
Predicted Effect probably benign
Transcript: ENSMUST00000055130
AA Change: I105L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000053105
Gene: ENSMUSG00000050015
AA Change: I105L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 6.3e-61 PFAM
Pfam:7TM_GPCR_Srsx 35 305 1.3e-7 PFAM
Pfam:7tm_1 41 290 3e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214457
AA Change: I105L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000215100
AA Change: I105L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Meta Mutation Damage Score 0.0948 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.3%
  • 20x: 90.3%
Validation Efficiency 100% (60/60)
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
Abcb5 G T 12: 118,836,572 (GRCm39) A1113D probably damaging Het
Adcy1 G T 11: 7,099,538 (GRCm39) A673S probably benign Het
Apob T A 12: 8,059,034 (GRCm39) H2505Q probably benign Het
Arhgap12 A G 18: 6,061,982 (GRCm39) probably benign Het
Bcl9 C T 3: 97,116,727 (GRCm39) E656K probably benign Het
Bnc1 C T 7: 81,627,072 (GRCm39) R106H possibly damaging Het
Ccdc54 T C 16: 50,411,165 (GRCm39) K34E possibly damaging Het
Cfap65 G A 1: 74,943,226 (GRCm39) R1600W probably damaging Het
Csmd1 A T 8: 16,034,760 (GRCm39) N2470K probably damaging Het
Cspp1 T C 1: 10,129,054 (GRCm39) probably benign Het
Dgkz A T 2: 91,768,684 (GRCm39) I699N probably damaging Het
Dhx40 G A 11: 86,662,775 (GRCm39) T639I probably damaging Het
Dlg1 A G 16: 31,609,085 (GRCm39) T227A probably benign Het
Dnah10 G A 5: 124,873,433 (GRCm39) probably benign Het
Dnah3 T A 7: 119,644,882 (GRCm39) K1133M probably damaging Het
Dock5 G C 14: 68,033,440 (GRCm39) F976L possibly damaging Het
Evc C T 5: 37,485,885 (GRCm39) C97Y possibly damaging Het
Fbxw7 T C 3: 84,874,876 (GRCm39) probably benign Het
Fggy A C 4: 95,732,422 (GRCm39) D112A probably damaging Het
Fpgs A G 2: 32,574,813 (GRCm39) Y435H probably damaging Het
Fryl T A 5: 73,230,231 (GRCm39) H1642L probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gda T A 19: 21,394,369 (GRCm39) I237F probably damaging Het
Glt1d1 A G 5: 127,768,134 (GRCm39) N247S probably damaging Het
Gm7647 T C 5: 95,110,839 (GRCm39) S7P probably benign Het
Gpr31b C T 17: 13,270,498 (GRCm39) V224I probably damaging Het
Hlf G A 11: 90,278,701 (GRCm39) P121L possibly damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ism1 G T 2: 139,520,592 (GRCm39) M1I probably null Het
Kansl1l T C 1: 66,817,265 (GRCm39) N365S probably null Het
Lama1 T C 17: 68,082,846 (GRCm39) L1368P possibly damaging Het
Lima1 A G 15: 99,678,968 (GRCm39) V491A possibly damaging Het
Lrch1 G T 14: 75,185,034 (GRCm39) H23N possibly damaging Het
Lrp1b A G 2: 41,172,183 (GRCm39) V1488A probably damaging Het
Lrp8 T C 4: 107,664,052 (GRCm39) probably benign Het
Lrrc8e A G 8: 4,285,733 (GRCm39) S653G probably benign Het
Mnat1 A G 12: 73,228,558 (GRCm39) T141A possibly damaging Het
Mpeg1 C A 19: 12,439,767 (GRCm39) N408K probably damaging Het
Myo7b T C 18: 32,147,390 (GRCm39) E51G possibly damaging Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Naa35 A G 13: 59,757,395 (GRCm39) T257A probably benign Het
Obox5 T A 7: 15,491,485 (GRCm39) H8Q probably damaging Het
Or51q1c T C 7: 103,653,232 (GRCm39) V250A probably damaging Het
Or5h26 A T 16: 58,988,202 (GRCm39) F101L probably benign Het
Phldb2 G T 16: 45,609,410 (GRCm39) T732N probably damaging Het
Phyhip G T 14: 70,704,410 (GRCm39) A210S possibly damaging Het
Pik3r4 A G 9: 105,563,409 (GRCm39) D1262G probably damaging Het
Pip G A 6: 41,826,798 (GRCm39) E48K possibly damaging Het
Plk4 C T 3: 40,767,982 (GRCm39) L74F probably damaging Het
Prdm14 G A 1: 13,189,031 (GRCm39) R438W probably damaging Het
Rab19 G A 6: 39,361,023 (GRCm39) R57H probably benign Het
Rtl1 G T 12: 109,556,661 (GRCm39) P1726Q probably damaging Het
Sema6a G A 18: 47,423,112 (GRCm39) probably null Het
Skint6 A T 4: 112,666,297 (GRCm39) V1176D possibly damaging Het
Slc12a1 A G 2: 125,067,948 (GRCm39) I1012V probably damaging Het
Slc1a3 C T 15: 8,665,721 (GRCm39) M509I probably benign Het
Spata18 G A 5: 73,824,224 (GRCm39) G35E probably benign Het
Spata31h1 A T 10: 82,120,203 (GRCm39) I4269N probably damaging Het
Sspo C T 6: 48,432,335 (GRCm39) P801L possibly damaging Het
Ugt2b37 C T 5: 87,398,524 (GRCm39) G304D probably damaging Het
Vmn2r25 A T 6: 123,805,539 (GRCm39) probably benign Het
Xrcc6 C A 15: 81,911,423 (GRCm39) probably null Het
Other mutations in Or1j4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Or1j4 APN 2 36,740,282 (GRCm39) missense probably damaging 1.00
IGL01113:Or1j4 APN 2 36,740,631 (GRCm39) missense probably damaging 1.00
IGL01393:Or1j4 APN 2 36,740,553 (GRCm39) missense probably benign 0.01
IGL02302:Or1j4 APN 2 36,740,715 (GRCm39) missense probably benign 0.02
IGL02316:Or1j4 APN 2 36,740,294 (GRCm39) missense probably damaging 1.00
BB007:Or1j4 UTSW 2 36,740,285 (GRCm39) missense probably damaging 1.00
BB017:Or1j4 UTSW 2 36,740,285 (GRCm39) missense probably damaging 1.00
F6893:Or1j4 UTSW 2 36,740,819 (GRCm39) missense probably benign 0.00
PIT4402001:Or1j4 UTSW 2 36,740,316 (GRCm39) missense probably benign
R0525:Or1j4 UTSW 2 36,740,202 (GRCm39) missense probably damaging 1.00
R0557:Or1j4 UTSW 2 36,740,760 (GRCm39) missense possibly damaging 0.95
R0665:Or1j4 UTSW 2 36,740,202 (GRCm39) missense probably damaging 1.00
R2019:Or1j4 UTSW 2 36,740,418 (GRCm39) missense possibly damaging 0.95
R2107:Or1j4 UTSW 2 36,740,355 (GRCm39) missense possibly damaging 0.54
R2108:Or1j4 UTSW 2 36,740,355 (GRCm39) missense possibly damaging 0.54
R2848:Or1j4 UTSW 2 36,740,811 (GRCm39) missense probably damaging 1.00
R3964:Or1j4 UTSW 2 36,740,729 (GRCm39) missense probably benign 0.12
R4822:Or1j4 UTSW 2 36,740,888 (GRCm39) missense probably benign 0.10
R4907:Or1j4 UTSW 2 36,740,270 (GRCm39) missense probably benign 0.28
R5134:Or1j4 UTSW 2 36,740,488 (GRCm39) missense probably benign 0.03
R5144:Or1j4 UTSW 2 36,740,156 (GRCm39) missense probably benign
R5702:Or1j4 UTSW 2 36,740,946 (GRCm39) missense probably damaging 1.00
R5727:Or1j4 UTSW 2 36,740,544 (GRCm39) missense possibly damaging 0.80
R5786:Or1j4 UTSW 2 36,740,061 (GRCm39) start codon destroyed probably null 0.98
R6179:Or1j4 UTSW 2 36,740,846 (GRCm39) missense possibly damaging 0.59
R6862:Or1j4 UTSW 2 36,740,234 (GRCm39) missense possibly damaging 0.95
R7258:Or1j4 UTSW 2 36,740,352 (GRCm39) missense probably damaging 0.99
R7307:Or1j4 UTSW 2 36,740,137 (GRCm39) missense probably benign 0.00
R7353:Or1j4 UTSW 2 36,740,081 (GRCm39) missense probably benign
R7412:Or1j4 UTSW 2 36,740,478 (GRCm39) missense probably benign 0.28
R7851:Or1j4 UTSW 2 36,740,428 (GRCm39) nonsense probably null
R7930:Or1j4 UTSW 2 36,740,285 (GRCm39) missense probably damaging 1.00
R8005:Or1j4 UTSW 2 36,740,156 (GRCm39) missense probably benign
R8346:Or1j4 UTSW 2 36,740,351 (GRCm39) missense probably benign 0.02
R8692:Or1j4 UTSW 2 36,740,096 (GRCm39) missense probably benign 0.00
R9120:Or1j4 UTSW 2 36,740,143 (GRCm39) nonsense probably null
R9318:Or1j4 UTSW 2 36,740,565 (GRCm39) missense probably benign 0.12
Z1177:Or1j4 UTSW 2 36,740,937 (GRCm39) missense probably damaging 1.00
Z1177:Or1j4 UTSW 2 36,740,251 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGGGGAACCTGCTCATCATCCTAC -3'
(R):5'- TTCAGCAAGGCAGCAAGGTCAC -3'

Sequencing Primer
(F):5'- ATCCTACTCATCAGGCTGGAC -3'
(R):5'- TTGTCAGCACAGAAGGATAGCC -3'
Posted On 2013-04-16