Incidental Mutation 'IGL00824:Cyp2j5'
ID9998
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: 0.052) question?
Stock #IGL00824
Quality Score
Status
Chromosome4
Chromosomal Location96628773-96664154 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 96663923 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 30 (F30L)
Ref Sequence ENSEMBL: ENSMUSP00000030299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030299]
Predicted Effect probably benign
Transcript: ENSMUST00000030299
AA Change: F30L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030299
Gene: ENSMUSG00000052520
AA Change: F30L

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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T C 1: 26,683,589 I837V possibly damaging Het
Atl1 A G 12: 69,932,238 T147A probably damaging Het
Cdh17 A G 4: 11,784,675 K277R probably benign Het
Hmcn1 A T 1: 150,656,734 V3134E probably damaging Het
Il2ra T C 2: 11,683,099 V230A probably benign Het
Mgst2 C T 3: 51,682,578 P146S probably benign Het
Myrfl T C 10: 116,849,359 probably benign Het
Nat8f5 A C 6: 85,817,297 L227R probably damaging Het
Osbpl2 G A 2: 180,150,267 V255M probably benign Het
Papln A G 12: 83,770,436 S27G possibly damaging Het
Paqr7 A G 4: 134,506,967 Y45C probably damaging Het
Pkhd1 A G 1: 20,081,184 probably null Het
Plrg1 C T 3: 83,068,335 T295I probably damaging Het
Sypl T A 12: 32,965,506 probably benign Het
Tmco3 T A 8: 13,292,825 V187E probably damaging Het
Trmt2b T C X: 134,267,405 I47M possibly damaging Het
Vmn2r61 T A 7: 42,267,014 N350K probably benign Het
Zfp687 A G 3: 95,009,185 L842P 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
IGL01450:Cyp2j5 APN 4 96658690 missense probably damaging 0.99
IGL01621:Cyp2j5 APN 4 96629554 missense probably benign
IGL02639:Cyp2j5 APN 4 96658749 missense probably benign 0.12
IGL03024:Cyp2j5 APN 4 96629523 missense probably benign 0.03
IGL03212:Cyp2j5 APN 4 96663818 missense probably damaging 0.97
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 On2012-12-06