Incidental Mutation 'IGL02639:Cyp2j5'
ID301666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2j5
Ensembl Gene ENSMUSG00000052520
Gene Namecytochrome P450, family 2, subfamily j, polypeptide 5
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL02639
Quality Score
Status
Chromosome4
Chromosomal Location96628773-96664154 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 96658749 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 176 (Q176L)
Ref Sequence ENSEMBL: ENSMUSP00000030299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030299]
Predicted Effect probably benign
Transcript: ENSMUST00000030299
AA Change: Q176L

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000030299
Gene: ENSMUSG00000052520
AA Change: Q176L

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:p450 44 497 2.3e-140 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Female mice homozygous for a null mutation display increased systolic blood pressure, increased left ventricular weight, decreased litter sizes, decreased serum estrogen levels, and increased induced vasoconstriction responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447A16Rik C T 15: 37,429,804 R71* probably null Het
Abca5 A T 11: 110,288,073 I1140N possibly damaging Het
Atp6v0a1 T A 11: 101,055,518 I773N possibly damaging Het
Atp9a A G 2: 168,649,620 M675T probably damaging Het
Baz1a A G 12: 54,896,025 probably benign Het
Cd5l T C 3: 87,368,506 V261A probably damaging Het
Copb1 A G 7: 114,226,595 probably benign Het
Cul5 T C 9: 53,655,342 D130G possibly damaging Het
D430042O09Rik A G 7: 125,872,792 I1518V probably damaging Het
Ddo A G 10: 40,647,737 D241G probably damaging Het
Defa29 A G 8: 21,326,121 C77R possibly damaging Het
Dpp4 T C 2: 62,352,240 N566D probably benign Het
Emilin2 T C 17: 71,274,549 D394G probably benign Het
Fbf1 T C 11: 116,152,600 E461G probably benign Het
Fgfr2 A G 7: 130,228,802 probably benign Het
Fibcd1 G A 2: 31,817,150 T365M probably damaging Het
Fndc3a A C 14: 72,574,357 H344Q probably benign Het
Fnip1 T A 11: 54,475,640 C52* probably null Het
Fto T A 8: 91,409,528 N143K probably damaging Het
Gm2035 G T 12: 87,919,499 T120K probably benign Het
Hells G T 19: 38,938,429 L84F probably damaging Het
Hydin G A 8: 110,538,449 V2755I probably benign Het
Irgq C A 7: 24,531,462 A26E probably damaging Het
Klhl29 A T 12: 5,137,453 Y304N probably damaging Het
Muc6 T C 7: 141,649,578 probably benign Het
Myo15 T C 11: 60,478,621 F736L probably benign Het
Nynrin G T 14: 55,870,655 W1073L probably damaging Het
Olfr116 A T 17: 37,623,987 I216N probably benign Het
Olfr1490 A T 19: 13,654,596 T51S possibly damaging Het
Olfr310 A T 7: 86,269,720 I23N probably damaging Het
Olfr389 A T 11: 73,776,545 C261S probably benign Het
Olfr63 G A 17: 33,269,395 V224M possibly damaging Het
Olfr642 C A 7: 104,049,781 C191F probably damaging Het
Olfr675 T A 7: 105,024,222 I253F probably damaging Het
Pdzd2 T A 15: 12,592,243 K105M probably damaging Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pola2 A G 19: 5,953,774 V191A probably benign Het
Slc22a8 A T 19: 8,593,959 Y18F probably benign Het
Slc26a5 C T 5: 21,819,767 V440M probably damaging Het
Other mutations in Cyp2j5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Cyp2j5 APN 4 96630775 missense probably damaging 1.00
IGL00670:Cyp2j5 APN 4 96634275 missense probably benign 0.05
IGL00824:Cyp2j5 APN 4 96663923 missense probably benign
IGL01450:Cyp2j5 APN 4 96658690 missense probably damaging 0.99
IGL01621:Cyp2j5 APN 4 96629554 missense probably benign
IGL03024:Cyp2j5 APN 4 96629523 missense probably benign 0.03
IGL03212:Cyp2j5 APN 4 96663818 missense probably damaging 0.97
aesculapius UTSW 4 96659612 missense possibly damaging 0.95
Kaduceus UTSW 4 96635815 missense probably benign 0.02
R0112:Cyp2j5 UTSW 4 96629523 missense probably benign 0.03
R0626:Cyp2j5 UTSW 4 96659512 missense probably benign 0.01
R1387:Cyp2j5 UTSW 4 96634285 missense probably damaging 1.00
R1638:Cyp2j5 UTSW 4 96635815 missense probably benign 0.02
R1857:Cyp2j5 UTSW 4 96659486 missense possibly damaging 0.88
R1920:Cyp2j5 UTSW 4 96663254 missense probably damaging 1.00
R2149:Cyp2j5 UTSW 4 96641340 missense possibly damaging 0.95
R2213:Cyp2j5 UTSW 4 96659615 missense probably benign 0.09
R4028:Cyp2j5 UTSW 4 96641416 nonsense probably null
R4895:Cyp2j5 UTSW 4 96663110 critical splice donor site probably null
R5132:Cyp2j5 UTSW 4 96629496 missense probably damaging 1.00
R5149:Cyp2j5 UTSW 4 96659507 missense probably damaging 1.00
R5666:Cyp2j5 UTSW 4 96658693 missense probably benign 0.00
R6676:Cyp2j5 UTSW 4 96635808 missense possibly damaging 0.57
R7328:Cyp2j5 UTSW 4 96663213 missense probably damaging 0.99
R7853:Cyp2j5 UTSW 4 96641419 missense probably benign 0.06
R7943:Cyp2j5 UTSW 4 96659612 missense possibly damaging 0.95
R8016:Cyp2j5 UTSW 4 96658714 missense probably damaging 1.00
R8052:Cyp2j5 UTSW 4 96664004 missense probably benign
R8064:Cyp2j5 UTSW 4 96658711 missense probably damaging 1.00
Z1176:Cyp2j5 UTSW 4 96629506 missense probably damaging 1.00
Z1177:Cyp2j5 UTSW 4 96659480 critical splice donor site probably null
Posted On2015-04-16