Incidental Mutation 'IGL01450:Cyp2j5'
ID |
84612 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01450
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
96517010-96552391 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 96546927 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 196
(T196S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030299]
|
AlphaFold |
O54749 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030299
AA Change: T196S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000030299 Gene: ENSMUSG00000052520 AA Change: T196S
Domain | Start | End | E-Value | Type |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acod1 |
G |
A |
14: 103,288,919 (GRCm39) |
R143Q |
possibly damaging |
Het |
Adh4 |
T |
A |
3: 138,129,794 (GRCm39) |
C207S |
probably benign |
Het |
Akap8 |
C |
A |
17: 32,534,661 (GRCm39) |
R317L |
probably damaging |
Het |
Aptx |
T |
C |
4: 40,688,133 (GRCm39) |
T182A |
probably damaging |
Het |
Ccar2 |
A |
T |
14: 70,377,200 (GRCm39) |
|
probably benign |
Het |
Cd300ld2 |
T |
A |
11: 114,903,369 (GRCm39) |
|
probably benign |
Het |
Cgnl1 |
T |
C |
9: 71,539,144 (GRCm39) |
|
probably benign |
Het |
Cubn |
A |
G |
2: 13,355,673 (GRCm39) |
|
probably benign |
Het |
Dctn1 |
T |
C |
6: 83,171,092 (GRCm39) |
|
probably benign |
Het |
Dync2li1 |
A |
T |
17: 84,940,984 (GRCm39) |
T67S |
possibly damaging |
Het |
Fetub |
A |
G |
16: 22,747,986 (GRCm39) |
N54S |
probably benign |
Het |
Gpld1 |
T |
C |
13: 25,163,664 (GRCm39) |
Y486H |
probably damaging |
Het |
Grb10 |
T |
A |
11: 11,920,432 (GRCm39) |
H62L |
probably damaging |
Het |
H6pd |
T |
G |
4: 150,068,575 (GRCm39) |
H264P |
probably damaging |
Het |
Lmtk2 |
T |
C |
5: 144,111,520 (GRCm39) |
S747P |
probably benign |
Het |
Mtcl3 |
T |
A |
10: 29,072,319 (GRCm39) |
M537K |
probably damaging |
Het |
Nkpd1 |
T |
C |
7: 19,257,550 (GRCm39) |
F293S |
probably damaging |
Het |
Or1j15 |
T |
A |
2: 36,458,754 (GRCm39) |
L48H |
probably damaging |
Het |
Osbpl1a |
A |
C |
18: 13,004,152 (GRCm39) |
F422V |
possibly damaging |
Het |
Pclo |
A |
T |
5: 14,727,207 (GRCm39) |
|
probably benign |
Het |
Phc3 |
G |
A |
3: 30,968,653 (GRCm39) |
R825C |
probably damaging |
Het |
Plk2 |
G |
A |
13: 110,532,858 (GRCm39) |
V140M |
probably damaging |
Het |
Racgap1 |
A |
G |
15: 99,524,244 (GRCm39) |
S388P |
probably benign |
Het |
Rap1gds1 |
A |
T |
3: 138,671,681 (GRCm39) |
N146K |
probably damaging |
Het |
Rgs7 |
C |
T |
1: 174,913,746 (GRCm39) |
V1M |
probably benign |
Het |
Rps6ka5 |
A |
T |
12: 100,519,250 (GRCm39) |
|
probably benign |
Het |
Scn4a |
A |
G |
11: 106,215,487 (GRCm39) |
I1163T |
probably damaging |
Het |
Selenop |
C |
T |
15: 3,306,755 (GRCm39) |
T178M |
probably benign |
Het |
Shank2 |
G |
T |
7: 143,838,805 (GRCm39) |
E680* |
probably null |
Het |
Sipa1l2 |
A |
C |
8: 126,149,316 (GRCm39) |
|
probably null |
Het |
Slc14a2 |
T |
C |
18: 78,226,745 (GRCm39) |
T437A |
probably damaging |
Het |
Smarcc2 |
C |
T |
10: 128,305,189 (GRCm39) |
P307S |
probably damaging |
Het |
Sptb |
C |
A |
12: 76,671,014 (GRCm39) |
R443L |
possibly damaging |
Het |
Stpg3 |
T |
C |
2: 25,104,622 (GRCm39) |
|
probably benign |
Het |
Tinag |
T |
A |
9: 76,952,858 (GRCm39) |
E42V |
possibly damaging |
Het |
Topors |
C |
A |
4: 40,262,417 (GRCm39) |
R289L |
probably damaging |
Het |
Ubash3a |
C |
A |
17: 31,427,205 (GRCm39) |
A38E |
probably damaging |
Het |
Vmn2r121 |
T |
A |
X: 123,040,888 (GRCm39) |
Y481F |
possibly damaging |
Het |
Vps54 |
A |
T |
11: 21,241,135 (GRCm39) |
E359D |
probably benign |
Het |
Xkr6 |
G |
A |
14: 64,035,664 (GRCm39) |
R255H |
probably damaging |
Het |
Zfp750 |
C |
T |
11: 121,403,855 (GRCm39) |
R340H |
probably benign |
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 |
|
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 |
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 |
|
|
Posted On |
2013-11-11 |