Incidental Mutation 'R6784:Cyp2j6'
ID 531549
Institutional Source Beutler Lab
Gene Symbol Cyp2j6
Ensembl Gene ENSMUSG00000052914
Gene Name cytochrome P450, family 2, subfamily j, polypeptide 6
Synonyms
MMRRC Submission 044898-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R6784 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 96404375-96441898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 96423741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 209 (Q209L)
Ref Sequence ENSEMBL: ENSMUSP00000030303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030303]
AlphaFold O54750
Predicted Effect possibly damaging
Transcript: ENSMUST00000030303
AA Change: Q209L

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030303
Gene: ENSMUSG00000052914
AA Change: Q209L

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 44 497 6.6e-138 PFAM
Meta Mutation Damage Score 0.1686 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.2%
Validation Efficiency 98% (46/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is thought to be the predominant enzyme responsible for epoxidation of endogenous arachidonic acid in cardiac tissue. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass C T 6: 23,093,895 (GRCm39) S142N probably null Het
Aida A G 1: 183,103,346 (GRCm39) Y275C probably damaging Het
Arrdc4 A G 7: 68,398,594 (GRCm39) I74T probably benign Het
C1ql4 A G 15: 98,985,290 (GRCm39) V107A probably benign Het
Ccnh T C 13: 85,360,884 (GRCm39) V284A probably benign Het
Cd180 A G 13: 102,839,213 (GRCm39) E32G probably damaging Het
Chd6 T C 2: 160,808,174 (GRCm39) D1680G probably damaging Het
Cog7 A T 7: 121,563,516 (GRCm39) probably null Het
Dars1 A T 1: 128,319,084 (GRCm39) V116E probably damaging Het
Dnah10 A G 5: 124,854,890 (GRCm39) K1932E probably damaging Het
Dock9 A G 14: 121,780,926 (GRCm39) S2086P probably damaging Het
Espl1 C G 15: 102,207,660 (GRCm39) R375G probably benign Het
Fer1l6 C T 15: 58,443,275 (GRCm39) S526L possibly damaging Het
Galnt9 G A 5: 110,768,465 (GRCm39) R587H probably damaging Het
Gigyf2 G T 1: 87,371,396 (GRCm39) V1170L probably damaging Het
Gm14412 G T 2: 177,009,133 (GRCm39) T41K probably benign Het
Gm45861 A G 8: 27,990,086 (GRCm39) probably null Het
H2bc4 T C 13: 23,868,483 (GRCm39) I90T probably damaging Het
Hoxc5 A G 15: 102,922,322 (GRCm39) probably benign Het
Jkampl A T 6: 73,445,918 (GRCm39) Y210* probably null Het
Klra1 T C 6: 130,349,817 (GRCm39) D207G probably benign Het
Lancl2 A G 6: 57,680,240 (GRCm39) N57D probably benign Het
Map2k4 T C 11: 65,582,577 (GRCm39) probably benign Het
Mgat3 G T 15: 80,096,401 (GRCm39) Q409H probably damaging Het
Mpp3 T A 11: 101,892,974 (GRCm39) probably null Het
Myh1 T A 11: 67,105,396 (GRCm39) L1062Q probably damaging Het
Nebl T A 2: 17,439,725 (GRCm39) K183* probably null Het
Npat G C 9: 53,469,458 (GRCm39) D315H probably damaging Het
Nt5c2 A G 19: 46,912,766 (GRCm39) V63A probably damaging Het
Opn1sw T A 6: 29,379,846 (GRCm39) E129D probably damaging Het
Or10ag2 C T 2: 87,248,796 (GRCm39) R135C probably benign Het
Or1e29 T G 11: 73,667,676 (GRCm39) H159P probably damaging Het
Or51t4 A T 7: 102,597,722 (GRCm39) T17S possibly damaging Het
Or5p1 A T 7: 107,916,989 (GRCm39) D296V probably damaging Het
Prdm16 T C 4: 154,407,764 (GRCm39) Y1153C probably damaging Het
Prdm6 T A 18: 53,669,698 (GRCm39) D105E probably benign Het
Pwwp4c C T X: 73,684,021 (GRCm39) R355H probably damaging Homo
Rbm27 T C 18: 42,434,929 (GRCm39) M331T probably benign Het
S1pr1 A G 3: 115,505,710 (GRCm39) Y295H probably damaging Het
Sgpp1 G C 12: 75,782,243 (GRCm39) P32R probably benign Het
Sla2 C T 2: 156,725,589 (GRCm39) S3N unknown Het
Slc10a6 A G 5: 103,776,896 (GRCm39) I68T probably damaging Het
Slc5a1 T C 5: 33,315,460 (GRCm39) F493S probably benign Het
Snx14 A T 9: 88,263,845 (GRCm39) Y847N probably benign Het
Tmc1 A G 19: 20,805,015 (GRCm39) probably null Het
Vps8 C A 16: 21,381,957 (GRCm39) Q1130K probably benign Het
Other mutations in Cyp2j6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Cyp2j6 APN 4 96,424,283 (GRCm39) missense possibly damaging 0.78
IGL01543:Cyp2j6 APN 4 96,414,161 (GRCm39) missense possibly damaging 0.78
IGL02324:Cyp2j6 APN 4 96,414,170 (GRCm39) missense probably damaging 0.99
IGL02727:Cyp2j6 APN 4 96,434,001 (GRCm39) missense probably benign
IGL02963:Cyp2j6 APN 4 96,406,421 (GRCm39) missense probably damaging 1.00
IGL03099:Cyp2j6 APN 4 96,424,328 (GRCm39) missense possibly damaging 0.65
R0109:Cyp2j6 UTSW 4 96,406,394 (GRCm39) missense probably damaging 0.99
R0109:Cyp2j6 UTSW 4 96,406,394 (GRCm39) missense probably damaging 0.99
R0376:Cyp2j6 UTSW 4 96,414,260 (GRCm39) missense probably damaging 0.99
R0448:Cyp2j6 UTSW 4 96,433,965 (GRCm39) missense probably benign
R0471:Cyp2j6 UTSW 4 96,419,985 (GRCm39) nonsense probably null
R0734:Cyp2j6 UTSW 4 96,412,081 (GRCm39) splice site probably benign
R1497:Cyp2j6 UTSW 4 96,419,898 (GRCm39) missense probably damaging 1.00
R1686:Cyp2j6 UTSW 4 96,412,014 (GRCm39) missense probably benign 0.08
R2079:Cyp2j6 UTSW 4 96,419,962 (GRCm39) missense possibly damaging 0.87
R2293:Cyp2j6 UTSW 4 96,417,670 (GRCm39) missense possibly damaging 0.87
R2350:Cyp2j6 UTSW 4 96,417,645 (GRCm39) missense probably damaging 1.00
R2971:Cyp2j6 UTSW 4 96,420,018 (GRCm39) missense probably benign 0.06
R3927:Cyp2j6 UTSW 4 96,441,525 (GRCm39) missense probably benign 0.15
R4020:Cyp2j6 UTSW 4 96,406,407 (GRCm39) missense probably benign 0.03
R5087:Cyp2j6 UTSW 4 96,419,936 (GRCm39) missense probably damaging 0.99
R5309:Cyp2j6 UTSW 4 96,423,793 (GRCm39) missense probably damaging 1.00
R5861:Cyp2j6 UTSW 4 96,434,040 (GRCm39) missense possibly damaging 0.81
R5882:Cyp2j6 UTSW 4 96,423,839 (GRCm39) missense probably benign 0.00
R6123:Cyp2j6 UTSW 4 96,406,266 (GRCm39) makesense probably null
R6180:Cyp2j6 UTSW 4 96,424,323 (GRCm39) missense probably damaging 1.00
R6181:Cyp2j6 UTSW 4 96,424,323 (GRCm39) missense probably damaging 1.00
R6182:Cyp2j6 UTSW 4 96,424,323 (GRCm39) missense probably damaging 1.00
R6185:Cyp2j6 UTSW 4 96,424,323 (GRCm39) missense probably damaging 1.00
R6186:Cyp2j6 UTSW 4 96,424,323 (GRCm39) missense probably damaging 1.00
R6217:Cyp2j6 UTSW 4 96,406,398 (GRCm39) missense probably damaging 1.00
R7038:Cyp2j6 UTSW 4 96,423,708 (GRCm39) missense probably benign
R7146:Cyp2j6 UTSW 4 96,434,019 (GRCm39) missense probably damaging 1.00
R7379:Cyp2j6 UTSW 4 96,414,183 (GRCm39) missense probably damaging 0.99
R7470:Cyp2j6 UTSW 4 96,423,708 (GRCm39) missense probably benign
R7536:Cyp2j6 UTSW 4 96,423,774 (GRCm39) missense probably damaging 1.00
R7789:Cyp2j6 UTSW 4 96,433,953 (GRCm39) missense probably benign 0.00
R8321:Cyp2j6 UTSW 4 96,441,684 (GRCm39) missense probably benign 0.07
R8836:Cyp2j6 UTSW 4 96,411,983 (GRCm39) missense probably damaging 1.00
R8897:Cyp2j6 UTSW 4 96,414,087 (GRCm39) missense probably benign 0.23
R9315:Cyp2j6 UTSW 4 96,420,035 (GRCm39) missense probably benign 0.05
R9507:Cyp2j6 UTSW 4 96,406,344 (GRCm39) nonsense probably null
R9563:Cyp2j6 UTSW 4 96,414,245 (GRCm39) missense probably damaging 1.00
R9564:Cyp2j6 UTSW 4 96,414,245 (GRCm39) missense probably damaging 1.00
R9565:Cyp2j6 UTSW 4 96,414,245 (GRCm39) missense probably damaging 1.00
R9618:Cyp2j6 UTSW 4 96,414,085 (GRCm39) missense probably benign 0.36
R9745:Cyp2j6 UTSW 4 96,441,621 (GRCm39) missense possibly damaging 0.82
Z1176:Cyp2j6 UTSW 4 96,424,305 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGAGCCCAGCAGTTACATATG -3'
(R):5'- TGACCAGGGCCTCTTACATG -3'

Sequencing Primer
(F):5'- CATTAGCTTTACAAGCCCT -3'
(R):5'- AGGGCCTCTTACATGTGTATTTC -3'
Posted On 2018-08-29