Incidental Mutation 'R8064:Cyp2j5'
ID |
619889 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2j5
|
Ensembl Gene |
ENSMUSG00000052520 |
Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 5 |
Synonyms |
|
MMRRC Submission |
067500-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R8064 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
96517010-96552391 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96546948 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 189
(S189P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030299]
|
AlphaFold |
O54749 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030299
AA Change: S189P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030299 Gene: ENSMUSG00000052520 AA Change: S189P
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
A |
T |
8: 25,171,566 (GRCm39) |
V755D |
probably benign |
Het |
Adgrb3 |
A |
T |
1: 25,459,637 (GRCm39) |
|
probably null |
Het |
Anapc2 |
T |
C |
2: 25,166,418 (GRCm39) |
V395A |
probably benign |
Het |
Apol11b |
A |
G |
15: 77,519,417 (GRCm39) |
V221A |
not run |
Het |
Arhgef28 |
T |
A |
13: 98,115,002 (GRCm39) |
Y616F |
probably benign |
Het |
Brdt |
C |
A |
5: 107,525,862 (GRCm39) |
S905* |
probably null |
Het |
Ccdc54 |
T |
A |
16: 50,410,327 (GRCm39) |
H313L |
probably benign |
Het |
Chuk |
A |
G |
19: 44,071,115 (GRCm39) |
L530P |
probably damaging |
Het |
Csl |
A |
T |
10: 99,594,407 (GRCm39) |
N219K |
probably damaging |
Het |
Cyp4a14 |
A |
T |
4: 115,352,155 (GRCm39) |
C86S |
probably benign |
Het |
Dgkg |
TCTCCT |
TCT |
16: 22,399,344 (GRCm39) |
|
probably null |
Het |
F11 |
C |
T |
8: 45,698,810 (GRCm39) |
G445S |
probably benign |
Het |
Fer |
T |
A |
17: 64,214,418 (GRCm39) |
I117N |
probably benign |
Het |
Gpat3 |
A |
T |
5: 101,039,522 (GRCm39) |
I290F |
probably benign |
Het |
H2-M10.2 |
C |
T |
17: 36,595,442 (GRCm39) |
V283M |
probably damaging |
Het |
Hpse |
G |
A |
5: 100,836,766 (GRCm39) |
P408S |
probably benign |
Het |
Hyou1 |
T |
A |
9: 44,296,882 (GRCm39) |
N515K |
possibly damaging |
Het |
Idh1 |
A |
G |
1: 65,205,338 (GRCm39) |
L209P |
probably damaging |
Het |
Igkv16-104 |
A |
T |
6: 68,402,875 (GRCm39) |
Y56F |
possibly damaging |
Het |
Ins2 |
A |
G |
7: 142,232,553 (GRCm39) |
L77P |
probably benign |
Het |
Kcnn2 |
A |
T |
18: 45,692,426 (GRCm39) |
M1L |
probably benign |
Het |
Kdm3b |
A |
T |
18: 34,946,460 (GRCm39) |
|
probably null |
Het |
Lysmd4 |
T |
C |
7: 66,873,398 (GRCm39) |
F11S |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,353,167 (GRCm39) |
D3625V |
possibly damaging |
Het |
Mlkl |
T |
A |
8: 112,038,700 (GRCm39) |
E459V |
probably benign |
Het |
Nsd3 |
A |
T |
8: 26,190,698 (GRCm39) |
K210* |
probably null |
Het |
Or10ag57 |
C |
T |
2: 87,218,853 (GRCm39) |
T268I |
probably benign |
Het |
Or10q1b |
T |
C |
19: 13,682,386 (GRCm39) |
F65S |
probably damaging |
Het |
Or52n4 |
T |
A |
7: 104,294,561 (GRCm39) |
Q6L |
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,692,225 (GRCm39) |
N153S |
probably damaging |
Het |
Rac3 |
T |
A |
11: 120,614,401 (GRCm39) |
V182E |
probably benign |
Het |
Ripk3 |
T |
G |
14: 56,025,383 (GRCm39) |
E60D |
possibly damaging |
Het |
Sacs |
T |
A |
14: 61,429,624 (GRCm39) |
I561N |
possibly damaging |
Het |
Smad7 |
A |
G |
18: 75,527,153 (GRCm39) |
Y333C |
probably damaging |
Het |
Snhg11 |
T |
G |
2: 158,218,121 (GRCm39) |
M1R |
probably null |
Het |
Sp100 |
C |
T |
1: 85,608,860 (GRCm39) |
R330* |
probably null |
Het |
Spen |
T |
C |
4: 141,203,011 (GRCm39) |
K1872R |
possibly damaging |
Het |
Spon1 |
T |
A |
7: 113,635,856 (GRCm39) |
I690N |
probably damaging |
Het |
Taok1 |
G |
A |
11: 77,440,130 (GRCm39) |
R626* |
probably null |
Het |
Tecta |
C |
T |
9: 42,306,251 (GRCm39) |
G59D |
possibly damaging |
Het |
Tmem8b |
T |
C |
4: 43,690,139 (GRCm39) |
F399S |
probably damaging |
Het |
Trank1 |
C |
T |
9: 111,181,144 (GRCm39) |
Q389* |
probably null |
Het |
Vmn1r33 |
G |
T |
6: 66,588,911 (GRCm39) |
S214R |
probably benign |
Het |
Vmn2r25 |
A |
T |
6: 123,800,581 (GRCm39) |
L587* |
probably null |
Het |
Vps35l |
T |
C |
7: 118,353,147 (GRCm39) |
I238T |
probably damaging |
Het |
Zfp335 |
G |
A |
2: 164,749,620 (GRCm39) |
T259I |
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 |
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 |
|
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'- ATGCTCTCCAGATCCTCAGC -3'
(R):5'- AACATCTGCCCATCTATCTGG -3'
Sequencing Primer
(F):5'- CCAAGTCAGGAGAAGTGGTCTTTC -3'
(R):5'- CCTTGATAAATTCAGCCCCATGTAGG -3'
|
Posted On |
2020-01-23 |