Incidental Mutation 'R4028:Cyp2j5'
ID |
313079 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2j5
|
Ensembl Gene |
ENSMUSG00000052520 |
Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 5 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R4028 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
96517010-96552391 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 96529653 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 239
(Y239*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030299]
|
AlphaFold |
O54749 |
Predicted Effect |
probably null
Transcript: ENSMUST00000030299
AA Change: Y239*
|
SMART Domains |
Protein: ENSMUSP00000030299 Gene: ENSMUSG00000052520 AA Change: Y239*
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
Pfam:p450
|
44 |
497 |
2.3e-140 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.2%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam12 |
A |
T |
7: 133,531,725 (GRCm39) |
N503K |
probably damaging |
Het |
Anapc2 |
T |
A |
2: 25,167,750 (GRCm39) |
I439N |
probably damaging |
Het |
Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
Birc2 |
T |
C |
9: 7,819,352 (GRCm39) |
N520S |
probably benign |
Het |
C030005K15Rik |
T |
C |
10: 97,561,404 (GRCm39) |
Y109C |
unknown |
Het |
Chrna5 |
T |
C |
9: 54,905,370 (GRCm39) |
W61R |
probably damaging |
Het |
Clec1b |
G |
A |
6: 129,378,774 (GRCm39) |
R87H |
probably benign |
Het |
Cox7a2l |
A |
G |
17: 83,810,069 (GRCm39) |
I123T |
probably benign |
Het |
Dnajc6 |
G |
A |
4: 101,474,054 (GRCm39) |
C485Y |
probably damaging |
Het |
Dync1i1 |
C |
T |
6: 5,961,842 (GRCm39) |
S341F |
probably damaging |
Het |
Fbln1 |
A |
G |
15: 85,111,317 (GRCm39) |
N157S |
probably benign |
Het |
Get1 |
T |
C |
16: 95,946,784 (GRCm39) |
|
probably null |
Het |
Gpatch2 |
A |
G |
1: 186,958,337 (GRCm39) |
S231G |
possibly damaging |
Het |
Grin2b |
T |
C |
6: 135,713,433 (GRCm39) |
D816G |
probably damaging |
Het |
Kndc1 |
T |
A |
7: 139,509,941 (GRCm39) |
F1261Y |
probably damaging |
Het |
Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
Mrc1 |
T |
C |
2: 14,243,059 (GRCm39) |
S62P |
probably damaging |
Het |
Ntrk3 |
T |
C |
7: 77,842,458 (GRCm39) |
E790G |
probably damaging |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
Or4c3 |
T |
C |
2: 89,851,567 (GRCm39) |
N281S |
probably damaging |
Het |
Or52k2 |
A |
T |
7: 102,254,500 (GRCm39) |
D313V |
possibly damaging |
Het |
Pibf1 |
A |
G |
14: 99,416,777 (GRCm39) |
E450G |
probably damaging |
Het |
Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
Pkdrej |
A |
T |
15: 85,701,693 (GRCm39) |
N1414K |
probably benign |
Het |
Pld2 |
A |
G |
11: 70,445,731 (GRCm39) |
N655S |
probably damaging |
Het |
Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
Slc28a3 |
T |
C |
13: 58,758,570 (GRCm39) |
S18G |
probably benign |
Het |
Slc7a1 |
C |
A |
5: 148,282,622 (GRCm39) |
C75F |
probably benign |
Het |
Snrnp200 |
A |
G |
2: 127,079,486 (GRCm39) |
D1865G |
probably damaging |
Het |
Tnrc6a |
T |
A |
7: 122,769,344 (GRCm39) |
I378N |
probably damaging |
Het |
Trim3 |
A |
G |
7: 105,267,452 (GRCm39) |
V309A |
probably benign |
Het |
Tshz1 |
T |
C |
18: 84,032,954 (GRCm39) |
K485E |
possibly damaging |
Het |
Zdhhc11 |
T |
C |
13: 74,125,390 (GRCm39) |
L210P |
probably damaging |
Het |
|
Other mutations in Cyp2j5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
R5149:Cyp2j5
|
UTSW |
4 |
96,547,744 (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'- GCCAACGTTTCTGTAAGAAGATG -3'
(R):5'- TGGCATGTACAAGGGAACAATC -3'
Sequencing Primer
(F):5'- CGTTTCTGTAAGAAGATGATACAGG -3'
(R):5'- AGGGATTGGTGACTCAGTATATTTTC -3'
|
Posted On |
2015-04-30 |