Incidental Mutation 'PIT4402001:Or1j4'
ID 555509
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.275) question?
Stock # PIT4402001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 36740060-36740998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 36740316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 86 (H86L)
Ref Sequence ENSEMBL: ENSMUSP00000150158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055130] [ENSMUST00000214457] [ENSMUST00000215100]
AlphaFold Q8VFP8
Predicted Effect probably benign
Transcript: ENSMUST00000055130
AA Change: H86L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000053105
Gene: ENSMUSG00000050015
AA Change: H86L

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: H86L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215100
AA Change: H86L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 92.8%
  • 3x: 90.3%
  • 10x: 83.2%
  • 20x: 68.1%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T G 14: 59,380,084 (GRCm39) L71F probably damaging Het
Adamts9 C T 6: 92,849,328 (GRCm39) V1044I probably benign Het
Alcam T C 16: 52,115,497 (GRCm39) Y207C probably damaging Het
Aldh4a1 C A 4: 139,369,502 (GRCm39) S351* probably null Het
Aoah C A 13: 20,978,680 (GRCm39) S39R probably benign Het
Arcn1 A T 9: 44,656,899 (GRCm39) V421E possibly damaging Het
Ccdc18 A G 5: 108,306,485 (GRCm39) E300G possibly damaging Het
Cdk2ap2 C A 19: 4,148,557 (GRCm39) R126S probably damaging Het
Dcun1d4 A G 5: 73,668,276 (GRCm39) I39V probably benign Het
Fam53b A T 7: 132,361,746 (GRCm39) I94N probably damaging Het
Fam83g A G 11: 61,594,422 (GRCm39) H652R probably damaging Het
Fanca A T 8: 124,039,803 (GRCm39) M157K possibly damaging Het
Flt1 A T 5: 147,615,049 (GRCm39) I299N probably damaging Het
Gm10800 CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA CAAGAAAACTGAAAATCA 2: 98,497,361 (GRCm39) probably null Het
Gns A G 10: 121,212,611 (GRCm39) Y191C probably damaging Het
Grin2a T C 16: 9,462,063 (GRCm39) T690A possibly damaging Het
Gsk3b C T 16: 37,909,763 (GRCm39) probably benign Het
Igsf10 A G 3: 59,233,000 (GRCm39) V1911A probably benign Het
Igsf3 A G 3: 101,334,393 (GRCm39) K157E probably benign Het
Inpp5a T C 7: 139,091,369 (GRCm39) Y118H probably benign Het
Kmt2a A G 9: 44,752,359 (GRCm39) V1413A unknown Het
Mettl9 T A 7: 120,656,440 (GRCm39) V190E probably damaging Het
Mrps9 T C 1: 42,935,258 (GRCm39) L188P probably benign Het
Myo9a A T 9: 59,777,719 (GRCm39) R1158S possibly damaging Het
Nacad T G 11: 6,548,621 (GRCm39) Q1371P probably benign Het
Ncoa1 T C 12: 4,344,987 (GRCm39) M787V probably benign Het
Noxred1 A T 12: 87,273,855 (GRCm39) I62K probably benign Het
Or2d3b T A 7: 106,514,294 (GRCm39) D296E possibly damaging Het
Or2y17 A G 11: 49,232,226 (GRCm39) Y289C probably damaging Het
Or52d1 A G 7: 103,755,657 (GRCm39) Y57C probably damaging Het
Otud6b A G 4: 14,818,185 (GRCm39) Y239H probably damaging Het
Pank1 A G 19: 34,818,366 (GRCm39) Y233H probably damaging Het
Pccb G T 9: 100,877,645 (GRCm39) D286E probably benign Het
Plek A C 11: 16,940,121 (GRCm39) L196R probably benign Het
Pou6f2 T C 13: 18,299,931 (GRCm39) H576R Het
Rbm47 T A 5: 66,184,354 (GRCm39) Y83F probably damaging Het
Rbm6 A T 9: 107,665,049 (GRCm39) Y787N probably damaging Het
Slc8a2 C A 7: 15,868,419 (GRCm39) A217E probably damaging Het
Suox G A 10: 128,507,164 (GRCm39) A288V probably damaging Het
Tbccd1 T C 16: 22,640,873 (GRCm39) I501M probably damaging Het
Tjp2 C A 19: 24,075,493 (GRCm39) G1042* probably null Het
Tmtc2 T C 10: 105,249,268 (GRCm39) Y155C probably damaging Het
Usp7 T C 16: 8,516,359 (GRCm39) N600S probably benign Het
Zer1 T C 2: 29,991,132 (GRCm39) I699V probably damaging Het
Zfp142 A G 1: 74,618,687 (GRCm39) F227S probably damaging 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
R0312:Or1j4 UTSW 2 36,740,372 (GRCm39) missense probably benign 0.01
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'- TGAATTCATCCTCCTGGGGC -3'
(R):5'- GAGTAAGATACAGAGCTCCTCTC -3'

Sequencing Primer
(F):5'- CCAGAGGAGCAAGGCATGTACTATG -3'
(R):5'- GAGCTCCTCTCTCATGATGGTG -3'
Posted On 2019-06-07