Incidental Mutation 'R1686:Cyp2j6'
ID 189326
Institutional Source Beutler Lab
Gene Symbol Cyp2j6
Ensembl Gene ENSMUSG00000052914
Gene Name cytochrome P450, family 2, subfamily j, polypeptide 6
Synonyms
MMRRC Submission 039719-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R1686 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 96404375-96441898 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96412014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 418 (D418G)
Ref Sequence ENSEMBL: ENSMUSP00000030303 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030303]
AlphaFold O54750
Predicted Effect probably benign
Transcript: ENSMUST00000030303
AA Change: D418G

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000030303
Gene: ENSMUSG00000052914
AA Change: D418G

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 44 497 6.6e-138 PFAM
Meta Mutation Damage Score 0.1194 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency 100% (85/85)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G A 10: 100,448,722 (GRCm39) V400I probably damaging Het
Abcb1b A G 5: 8,848,782 (GRCm39) N14S probably damaging Het
Adamts14 A G 10: 61,034,439 (GRCm39) Y1150H probably benign Het
Adgrg3 A G 8: 95,759,997 (GRCm39) N72S probably benign Het
Akain1 T A 17: 69,746,527 (GRCm39) F3I possibly damaging Het
Akr1c21 T C 13: 4,627,452 (GRCm39) L182P probably damaging Het
Arhgap21 A T 2: 20,886,659 (GRCm39) Y12N probably damaging Het
Aup1 A T 6: 83,032,226 (GRCm39) H131L probably damaging Het
Bag6 A G 17: 35,363,928 (GRCm39) T812A possibly damaging Het
Bmp2k A G 5: 97,211,392 (GRCm39) Y520C unknown Het
Calm4 T G 13: 3,888,302 (GRCm39) V136G probably damaging Het
Catsper2 A G 2: 121,230,523 (GRCm39) probably null Het
Cc2d2a A G 5: 43,896,713 (GRCm39) T1537A possibly damaging Het
Cntn2 A T 1: 132,454,049 (GRCm39) V319D possibly damaging Het
Cux1 G A 5: 136,304,235 (GRCm39) R1314* probably null Het
Cxcl12 A G 6: 117,150,508 (GRCm39) I79V probably damaging Het
Ddx28 G C 8: 106,737,190 (GRCm39) D289E probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam135a A C 1: 24,068,887 (GRCm39) S448A probably benign Het
Fbxo33 G T 12: 59,251,626 (GRCm39) N30K possibly damaging Het
Fgf12 A C 16: 28,217,093 (GRCm39) Y21D probably damaging Het
Galntl5 C T 5: 25,415,432 (GRCm39) S288L probably benign Het
Gart G T 16: 91,422,237 (GRCm39) A760D probably damaging Het
Gba2 A T 4: 43,573,869 (GRCm39) probably benign Het
Gm10518 C A 1: 179,631,357 (GRCm39) S139* probably null Het
Gm4781 A T 10: 100,232,837 (GRCm39) noncoding transcript Het
Gm9790 A G 3: 85,823,156 (GRCm39) noncoding transcript Het
Gmps G A 3: 63,893,075 (GRCm39) G127R probably damaging Het
Golim4 A T 3: 75,802,443 (GRCm39) V283E probably benign Het
Gprc5a A T 6: 135,055,918 (GRCm39) I122F possibly damaging Het
Gzmc T C 14: 56,471,341 (GRCm39) K67E probably benign Het
Hapln3 C A 7: 78,771,638 (GRCm39) V84L probably benign Het
Hif3a T A 7: 16,778,789 (GRCm39) N377Y possibly damaging Het
Ifi211 G A 1: 173,726,969 (GRCm39) H392Y probably damaging Het
Iqgap3 T A 3: 88,015,663 (GRCm39) probably benign Het
Itga10 T A 3: 96,559,141 (GRCm39) F410Y probably damaging Het
Jup T C 11: 100,263,260 (GRCm39) Y705C probably damaging Het
Khsrp C T 17: 57,332,597 (GRCm39) A228T probably benign Het
Lmntd2 C T 7: 140,790,998 (GRCm39) G445D probably damaging Het
Lyst T C 13: 13,809,290 (GRCm39) V320A possibly damaging Het
Magel2 T A 7: 62,027,988 (GRCm39) H297Q possibly damaging Het
Mbd6 T C 10: 127,123,286 (GRCm39) E33G probably damaging Het
Mob3b A G 4: 34,985,910 (GRCm39) probably benign Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mymk A T 2: 26,952,346 (GRCm39) W174R probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nipal3 T C 4: 135,174,599 (GRCm39) Y384C possibly damaging Het
Nt5c3b A G 11: 100,330,920 (GRCm39) probably benign Het
Obox6 T A 7: 15,567,750 (GRCm39) L232F probably damaging Het
Obscn A C 11: 58,997,113 (GRCm39) probably benign Het
Or7g12 T C 9: 18,899,839 (GRCm39) L185P probably damaging Het
Phkb A G 8: 86,748,278 (GRCm39) I706V probably benign Het
Plcb2 A G 2: 118,546,168 (GRCm39) probably benign Het
Plek2 T C 12: 78,941,184 (GRCm39) D216G probably damaging Het
Plxnb2 T C 15: 89,046,665 (GRCm39) Y855C probably damaging Het
Prkcz T C 4: 155,355,713 (GRCm39) T227A probably damaging Het
Psma7 A T 2: 179,679,215 (GRCm39) D184E probably benign Het
Rai14 T A 15: 10,592,282 (GRCm39) L204F probably damaging Het
Ralgapa2 A G 2: 146,199,920 (GRCm39) V1208A probably benign Het
Rapgef6 A G 11: 54,582,458 (GRCm39) R67G possibly damaging Het
Ryr2 C T 13: 11,618,665 (GRCm39) probably benign Het
Satb1 T C 17: 52,047,027 (GRCm39) S763G probably benign Het
Sdk1 A T 5: 142,020,292 (GRCm39) H690L probably benign Het
Sfrp5 A C 19: 42,190,143 (GRCm39) V103G possibly damaging Het
Six6 A G 12: 72,988,451 (GRCm39) E208G probably benign Het
Sspo A T 6: 48,437,334 (GRCm39) H1364L probably benign Het
Stard9 A T 2: 120,529,973 (GRCm39) T2077S probably benign Het
Tacr3 T C 3: 134,535,254 (GRCm39) L74P probably damaging Het
Tep1 T C 14: 51,074,245 (GRCm39) E1880G probably benign Het
Tgfb3 A T 12: 86,116,517 (GRCm39) probably benign Het
Thap7 G A 16: 17,346,576 (GRCm39) P136S probably damaging Het
Thoc2l T A 5: 104,667,789 (GRCm39) Y770* probably null Het
Tmc2 T C 2: 130,098,036 (GRCm39) V717A possibly damaging Het
Usp43 T A 11: 67,778,593 (GRCm39) S446C probably damaging Het
Vwa3a C T 7: 120,379,371 (GRCm39) S492L probably damaging Het
Wdhd1 T A 14: 47,493,672 (GRCm39) N16I probably damaging Het
Wdr95 A T 5: 149,516,566 (GRCm39) D327V probably damaging Het
Zfp128 T G 7: 12,624,563 (GRCm39) Y310* probably null 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
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
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'- TTTGAGGCATCTGGGCACAAGAG -3'
(R):5'- GAGATGAAAGACACGCAATTCCGC -3'

Sequencing Primer
(F):5'- TCTGGGCACAAGAGGAGGG -3'
(R):5'- CCTCATTGTAGGAAGTAGCCG -3'
Posted On 2014-05-14