Incidental Mutation 'R5149:Cyp2j5'
ID 395238
Institutional Source Beutler Lab
Gene Symbol Cyp2j5
Ensembl Gene ENSMUSG00000052520
Gene Name cytochrome P450, family 2, subfamily j, polypeptide 5
Synonyms
MMRRC Submission 042732-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5149 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 96517010-96552391 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96547744 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 166 (L166P)
Ref Sequence ENSEMBL: ENSMUSP00000030299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030299]
AlphaFold O54749
Predicted Effect probably damaging
Transcript: ENSMUST00000030299
AA Change: L166P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030299
Gene: ENSMUSG00000052520
AA Change: L166P

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:p450 44 497 2.3e-140 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahsg A G 16: 22,717,673 (GRCm39) T245A probably benign Het
Akr1c13 G T 13: 4,244,168 (GRCm39) V74L probably benign Het
Amt G A 9: 108,178,650 (GRCm39) V389I possibly damaging Het
Ankrd26 T C 6: 118,535,957 (GRCm39) N159S probably benign Het
Atp1a4 A G 1: 172,059,572 (GRCm39) I840T probably damaging Het
Capn1 T C 19: 6,040,364 (GRCm39) probably null Het
Col27a1 T C 4: 63,249,664 (GRCm39) probably benign Het
D6Ertd527e C G 6: 87,088,506 (GRCm39) T223S unknown Het
Dchs1 G A 7: 105,404,865 (GRCm39) T2559I probably damaging Het
Dnah12 C A 14: 26,572,883 (GRCm39) S258* probably null Het
Dpep1 A T 8: 123,927,177 (GRCm39) T309S probably benign Het
Epha5 A T 5: 84,298,217 (GRCm39) F559L probably damaging Het
Gm3409 T C 5: 146,474,571 (GRCm39) I29T possibly damaging Het
Grhl1 CAGAAGAAG CAGAAG 12: 24,662,178 (GRCm39) probably benign Het
Gtf3c1 G T 7: 125,267,209 (GRCm39) R941S probably damaging Het
Helb C T 10: 119,941,648 (GRCm39) E347K probably benign Het
Ighv14-3 A G 12: 114,023,710 (GRCm39) S36P probably damaging Het
Klrb1c T A 6: 128,760,670 (GRCm39) M211L probably benign Het
Larp7 C T 3: 127,334,460 (GRCm39) E510K probably damaging Het
Lrig1 C T 6: 94,605,025 (GRCm39) R190Q possibly damaging Het
Marchf6 A G 15: 31,462,140 (GRCm39) S863P possibly damaging Het
Mgst2 A G 3: 51,589,958 (GRCm39) N132S probably benign Het
Nlgn2 C T 11: 69,716,216 (GRCm39) R775H probably damaging Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or5w15 A T 2: 87,567,749 (GRCm39) S306R probably benign Het
Or6c6c T C 10: 129,541,377 (GRCm39) V210A probably benign Het
Papln A T 12: 83,818,656 (GRCm39) probably null Het
Poteg C T 8: 27,971,671 (GRCm39) S395L possibly damaging Het
Prox1 T A 1: 189,879,250 (GRCm39) I643F possibly damaging Het
Septin4 A G 11: 87,480,071 (GRCm39) E211G probably damaging Het
Serpinb6e A G 13: 34,016,468 (GRCm39) F422L probably damaging Het
Slc22a19 A G 19: 7,688,503 (GRCm39) L19P probably damaging Het
Snf8 G T 11: 95,934,286 (GRCm39) A136S probably benign Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Spta1 A G 1: 174,075,000 (GRCm39) T2409A probably damaging Het
Tat A G 8: 110,723,450 (GRCm39) S313G probably benign Het
Tep1 A T 14: 51,074,855 (GRCm39) C1785* probably null Het
Tmem132b A G 5: 125,699,989 (GRCm39) S176G probably damaging Het
Tnfrsf8 T C 4: 145,029,675 (GRCm39) R42G possibly damaging Het
Trio T C 15: 27,754,115 (GRCm39) D2124G possibly damaging Het
Trp53bp1 A T 2: 121,046,598 (GRCm39) D1067E probably benign Het
Tspan13 T C 12: 36,074,065 (GRCm39) S24G probably damaging Het
Zdbf2 T C 1: 63,344,062 (GRCm39) S814P possibly damaging Het
Zfp213 C A 17: 23,780,373 (GRCm39) R49L probably damaging Het
Other mutations in Cyp2j5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00505:Cyp2j5 APN 4 96,519,012 (GRCm39) missense probably damaging 1.00
IGL00670:Cyp2j5 APN 4 96,522,512 (GRCm39) missense probably benign 0.05
IGL00824:Cyp2j5 APN 4 96,552,160 (GRCm39) missense probably benign
IGL01450:Cyp2j5 APN 4 96,546,927 (GRCm39) missense probably damaging 0.99
IGL01621:Cyp2j5 APN 4 96,517,791 (GRCm39) missense probably benign
IGL02639:Cyp2j5 APN 4 96,546,986 (GRCm39) missense probably benign 0.12
IGL03024:Cyp2j5 APN 4 96,517,760 (GRCm39) missense probably benign 0.03
IGL03212:Cyp2j5 APN 4 96,552,055 (GRCm39) missense probably damaging 0.97
aesculapius UTSW 4 96,547,849 (GRCm39) missense possibly damaging 0.95
Kaduceus UTSW 4 96,524,052 (GRCm39) missense probably benign 0.02
R0112:Cyp2j5 UTSW 4 96,517,760 (GRCm39) missense probably benign 0.03
R0626:Cyp2j5 UTSW 4 96,547,749 (GRCm39) missense probably benign 0.01
R1387:Cyp2j5 UTSW 4 96,522,522 (GRCm39) missense probably damaging 1.00
R1638:Cyp2j5 UTSW 4 96,524,052 (GRCm39) missense probably benign 0.02
R1857:Cyp2j5 UTSW 4 96,547,723 (GRCm39) missense possibly damaging 0.88
R1920:Cyp2j5 UTSW 4 96,551,491 (GRCm39) missense probably damaging 1.00
R2149:Cyp2j5 UTSW 4 96,529,577 (GRCm39) missense possibly damaging 0.95
R2213:Cyp2j5 UTSW 4 96,547,852 (GRCm39) missense probably benign 0.09
R4028:Cyp2j5 UTSW 4 96,529,653 (GRCm39) nonsense probably null
R4895:Cyp2j5 UTSW 4 96,551,347 (GRCm39) critical splice donor site probably null
R5132:Cyp2j5 UTSW 4 96,517,733 (GRCm39) missense probably damaging 1.00
R5666:Cyp2j5 UTSW 4 96,546,930 (GRCm39) missense probably benign 0.00
R6676:Cyp2j5 UTSW 4 96,524,045 (GRCm39) missense possibly damaging 0.57
R7328:Cyp2j5 UTSW 4 96,551,450 (GRCm39) missense probably damaging 0.99
R7853:Cyp2j5 UTSW 4 96,529,656 (GRCm39) missense probably benign 0.06
R7943:Cyp2j5 UTSW 4 96,547,849 (GRCm39) missense possibly damaging 0.95
R8016:Cyp2j5 UTSW 4 96,546,951 (GRCm39) missense probably damaging 1.00
R8052:Cyp2j5 UTSW 4 96,552,241 (GRCm39) missense probably benign
R8064:Cyp2j5 UTSW 4 96,546,948 (GRCm39) missense probably damaging 1.00
R8711:Cyp2j5 UTSW 4 96,529,660 (GRCm39) missense possibly damaging 0.94
R8890:Cyp2j5 UTSW 4 96,522,555 (GRCm39) missense probably damaging 1.00
R8929:Cyp2j5 UTSW 4 96,546,977 (GRCm39) missense possibly damaging 0.95
R9006:Cyp2j5 UTSW 4 96,552,149 (GRCm39) missense probably benign 0.30
R9433:Cyp2j5 UTSW 4 96,552,244 (GRCm39) missense probably benign
R9465:Cyp2j5 UTSW 4 96,522,551 (GRCm39) missense probably damaging 1.00
R9469:Cyp2j5 UTSW 4 96,517,731 (GRCm39) nonsense probably null
R9631:Cyp2j5 UTSW 4 96,529,522 (GRCm39) missense probably benign 0.00
Z1176:Cyp2j5 UTSW 4 96,517,743 (GRCm39) missense probably damaging 1.00
Z1177:Cyp2j5 UTSW 4 96,547,717 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TAGTCGAGTGCAAAGCCTG -3'
(R):5'- CATGTCTCTAGTATTTGCTGCATG -3'

Sequencing Primer
(F):5'- CATGCAGGCAGTGACTTCTCATAG -3'
(R):5'- CTAATGGCCAGACATGGA -3'
Posted On 2016-06-21