Incidental Mutation 'R0665:Or1j4'
ID 61971
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 038850-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.275) question?
Stock # R0665 (G1)
Quality Score 124
Status Not validated
Chromosome 2
Chromosomal Location 36740060-36740998 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 36740202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 48 (L48P)
Ref Sequence ENSEMBL: ENSMUSP00000149667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055130] [ENSMUST00000214457] [ENSMUST00000215100]
AlphaFold Q8VFP8
Predicted Effect probably damaging
Transcript: ENSMUST00000055130
AA Change: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053105
Gene: ENSMUSG00000050015
AA Change: L48P

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 damaging
Transcript: ENSMUST00000214457
AA Change: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215100
AA Change: L48P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6598 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.2%
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl2 A G 2: 90,631,554 (GRCm39) Y304C probably damaging Het
B3galt2 T C 1: 143,522,191 (GRCm39) V109A possibly damaging Het
Chml T A 1: 175,515,461 (GRCm39) E153D probably benign Het
Dap3 A T 3: 88,838,304 (GRCm39) C78* probably null Het
Dnah8 T C 17: 30,955,129 (GRCm39) F2053L probably damaging Het
Dppa3 A G 6: 122,606,939 (GRCm39) E143G probably damaging Het
Espnl T G 1: 91,262,409 (GRCm39) probably null Het
Fat3 C T 9: 15,908,698 (GRCm39) A2435T probably benign Het
Flnc G A 6: 29,455,530 (GRCm39) V2027M probably damaging Het
Gtf2h2 C T 13: 100,617,562 (GRCm39) G200E probably damaging Het
Gtpbp1 A G 15: 79,597,648 (GRCm39) I348V probably benign Het
Kansl1 A G 11: 104,234,364 (GRCm39) V714A probably benign Het
Kcnk10 T C 12: 98,406,944 (GRCm39) I251V probably benign Het
Kri1 G A 9: 21,192,936 (GRCm39) probably benign Het
Lcmt1 G A 7: 123,002,094 (GRCm39) D120N probably damaging Het
Myom3 A G 4: 135,492,237 (GRCm39) D127G possibly damaging Het
Or12e1 A G 2: 87,022,652 (GRCm39) Y207C probably damaging Het
Or5w13 C T 2: 87,524,152 (GRCm39) V25I probably benign Het
Phyhd1 A G 2: 30,171,040 (GRCm39) H241R probably damaging Het
Ppp2r5d A T 17: 46,997,330 (GRCm39) N287K probably damaging Het
Ralgds A G 2: 28,435,218 (GRCm39) H458R probably damaging Het
Scn3a C A 2: 65,314,755 (GRCm39) R1102L probably null Het
Sdhc T C 1: 170,963,626 (GRCm39) Y80C probably damaging Het
Smarca4 CGAGGAGGAGGAGGAGG CGAGGAGGAGGAGG 9: 21,612,239 (GRCm39) probably benign Het
Tgfbr3 A T 5: 107,325,716 (GRCm39) H115Q probably benign Het
Triobp T C 15: 78,858,098 (GRCm39) L1233P possibly damaging Het
Trpc6 A C 9: 8,634,123 (GRCm39) T401P probably benign Het
Ttc5 T A 14: 51,003,415 (GRCm39) Q423L probably benign 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
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
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'- CCTTGTCCCCAGATGCTGTTGAATG -3'
(R):5'- GTTGTCAGCACAGAAGGATAGCCG -3'

Sequencing Primer
(F):5'- GGTGCAACCCACTTTAAATGG -3'
(R):5'- CCGATCATATGCCATTGAAGTGAG -3'
Posted On 2013-07-30