Incidental Mutation 'R8836:Cyp2j6'
ID 674141
Institutional Source Beutler Lab
Gene Symbol Cyp2j6
Ensembl Gene ENSMUSG00000052914
Gene Name cytochrome P450, family 2, subfamily j, polypeptide 6
Synonyms
MMRRC Submission 068664-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R8836 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 96404375-96441898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96411983 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 428 (N428K)
Ref Sequence ENSEMBL: ENSMUSP00000030303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030303]
AlphaFold O54750
Predicted Effect probably damaging
Transcript: ENSMUST00000030303
AA Change: N428K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000030303
Gene: ENSMUSG00000052914
AA Change: N428K

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 44 497 6.6e-138 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (69/69)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4m1 T A 5: 138,173,061 (GRCm39) I134N probably damaging Het
Cacna1b A G 2: 24,542,982 (GRCm39) V1294A possibly damaging Het
Carmil1 A T 13: 24,339,029 (GRCm39) S160T probably damaging Het
Ccdc7b C A 8: 129,857,512 (GRCm39) probably benign Het
Chd9 T G 8: 91,767,812 (GRCm39) N2436K probably damaging Het
Cradd G A 10: 95,158,462 (GRCm39) A95V probably benign Het
Cttnbp2 T G 6: 18,375,952 (GRCm39) E1529A probably damaging Het
Cyp11b1 T C 15: 74,710,387 (GRCm39) I305V possibly damaging Het
Cyp3a44 A T 5: 145,731,728 (GRCm39) S139R probably damaging Het
Dysf C T 6: 84,093,105 (GRCm39) R1073C probably damaging Het
Ei24 A G 9: 36,701,498 (GRCm39) F23S Het
Enam T C 5: 88,639,124 (GRCm39) probably null Het
Ezh2 A T 6: 47,531,196 (GRCm39) C163S probably benign Het
Fam76b T A 9: 13,755,381 (GRCm39) F329L probably benign Het
Gatad2b G A 3: 90,263,507 (GRCm39) A535T probably damaging Het
Gm5622 T A 14: 51,796,770 (GRCm39) probably benign Het
Gm9195 C A 14: 72,695,830 (GRCm39) A1401S probably benign Het
Greb1l A T 18: 10,509,257 (GRCm39) H523L probably benign Het
Grhl3 T A 4: 135,288,640 (GRCm39) N15I probably damaging Het
Gsta3 A T 1: 21,330,283 (GRCm39) Y95F probably benign Het
Htr1f C A 16: 64,747,196 (GRCm39) G32V probably benign Het
Il18r1 C A 1: 40,535,016 (GRCm39) Q404K probably benign Het
Izumo3 A T 4: 92,033,216 (GRCm39) probably null Het
Kctd19 T A 8: 106,112,028 (GRCm39) I806F probably damaging Het
Lama4 G T 10: 38,902,587 (GRCm39) C187F probably damaging Het
Lamp3 T G 16: 19,519,788 (GRCm39) I132L probably benign Het
Ly9 A T 1: 171,432,559 (GRCm39) Y151* probably null Het
Lztr1 T C 16: 17,343,402 (GRCm39) L474P probably benign Het
Mcm9 A T 10: 53,502,130 (GRCm39) Y79N Het
Mocs2 T A 13: 114,961,760 (GRCm39) N80K possibly damaging Het
Mrgbp T A 2: 180,224,712 (GRCm39) C38S probably benign Het
Ncs1 G T 2: 31,136,159 (GRCm39) probably benign Het
Or51a10 G A 7: 103,699,055 (GRCm39) P169S probably benign Het
Or8k17 T C 2: 86,066,888 (GRCm39) N90S probably benign Het
Pakap A G 4: 57,709,916 (GRCm39) D287G probably benign Het
Pax5 A T 4: 44,645,621 (GRCm39) V236E probably benign Het
Pcdhgb5 A G 18: 37,865,260 (GRCm39) I352V probably benign Het
Pik3r5 A G 11: 68,385,104 (GRCm39) T670A probably benign Het
Plxna2 T A 1: 194,479,243 (GRCm39) N1301K possibly damaging Het
Pou2af3 A G 9: 51,182,104 (GRCm39) L156P probably damaging Het
Pou5f2 G A 13: 78,173,886 (GRCm39) G276D probably damaging Het
Ppl C G 16: 4,906,854 (GRCm39) R1147P probably damaging Het
Pramel17 T C 4: 101,693,022 (GRCm39) K326R probably benign Het
Prkdc C A 16: 15,545,523 (GRCm39) R1880S probably damaging Het
Rbfox1 T A 16: 7,227,605 (GRCm39) D373E probably benign Het
Rbm24 A G 13: 46,582,780 (GRCm39) D233G probably damaging Het
Rbp3 A T 14: 33,680,588 (GRCm39) E1063D possibly damaging Het
Rc3h2 A G 2: 37,267,941 (GRCm39) V939A possibly damaging Het
Relb C A 7: 19,345,799 (GRCm39) V385L possibly damaging Het
Robo4 T G 9: 37,317,130 (GRCm39) S482A unknown Het
Ryr1 A C 7: 28,774,091 (GRCm39) L2426R probably damaging Het
Sass6 A T 3: 116,407,598 (GRCm39) E238V possibly damaging Het
Ski T C 4: 155,245,047 (GRCm39) I400V probably benign Het
Slc27a2 C A 2: 126,416,656 (GRCm39) A336D Het
Slc30a3 T C 5: 31,250,668 (GRCm39) T12A possibly damaging Het
Slc6a6 T C 6: 91,725,444 (GRCm39) V447A probably damaging Het
Smad1 T A 8: 80,098,554 (GRCm39) I87F probably damaging Het
Spns1 G A 7: 125,971,593 (GRCm39) S319F possibly damaging Het
Sytl3 C A 17: 6,973,410 (GRCm39) T237N possibly damaging Het
Tdrd7 A G 4: 45,987,570 (GRCm39) T68A probably damaging Het
Tex56 T A 13: 35,116,526 (GRCm39) W92R probably damaging Het
Tmem135 G C 7: 88,797,186 (GRCm39) L357V probably benign Het
Tmem238 A G 7: 4,792,520 (GRCm39) C8R possibly damaging Het
Ubxn2b A T 4: 6,216,061 (GRCm39) Q328L probably damaging Het
Vmn1r226 A G 17: 20,908,133 (GRCm39) T122A probably benign Het
Vps13d A G 4: 144,882,648 (GRCm39) F982L Het
Xpo4 T C 14: 57,902,367 (GRCm39) E16G probably benign Het
Zbtb17 T A 4: 141,189,233 (GRCm39) M51K possibly damaging Het
Zdhhc1 A G 8: 106,200,173 (GRCm39) F315S probably benign Het
Zfp568 C T 7: 29,722,459 (GRCm39) T468M probably damaging 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
R6784:Cyp2j6 UTSW 4 96,423,741 (GRCm39) missense possibly damaging 0.70
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
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'- TTCCCAGCAGAGTCAAGGAAG -3'
(R):5'- TATAAATGCGCCAGAACTAGAGAAC -3'

Sequencing Primer
(F):5'- AGGATGGGGATTAGGCTGAGTC -3'
(R):5'- GAACTACCTATGCCATTACAGGTTTG -3'
Posted On 2021-07-15