Incidental Mutation 'R6676:Cyp2j5'
| ID |
527281 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2j5
|
| Ensembl Gene |
ENSMUSG00000052520 |
| Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 5 |
| Synonyms |
|
| MMRRC Submission |
044795-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6676 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
96517010-96552391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96524045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 329
(Y329C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030299]
|
| AlphaFold |
O54749 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030299
AA Change: Y329C
PolyPhen 2
Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000030299
Gene: ENSMUSG00000052520
AA Change: Y329C
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.3%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra2 |
A |
T |
8: 27,601,268 (GRCm39) |
I303F |
possibly damaging |
Het |
| Cldn9 |
A |
G |
17: 23,902,023 (GRCm39) |
S201P |
probably benign |
Het |
| Clstn2 |
G |
T |
9: 97,343,584 (GRCm39) |
P621Q |
probably damaging |
Het |
| Ctdspl2 |
A |
G |
2: 121,837,445 (GRCm39) |
N403S |
probably damaging |
Het |
| Elapor1 |
A |
G |
3: 108,377,231 (GRCm39) |
L461P |
probably damaging |
Het |
| Elovl1 |
A |
G |
4: 118,287,700 (GRCm39) |
|
probably benign |
Het |
| Fam83a |
A |
G |
15: 57,856,439 (GRCm39) |
D206G |
possibly damaging |
Het |
| Fancd2 |
C |
T |
6: 113,514,626 (GRCm39) |
Q144* |
probably null |
Het |
| Fhl2 |
T |
C |
1: 43,170,970 (GRCm39) |
M115V |
possibly damaging |
Het |
| Fry |
T |
A |
5: 150,304,387 (GRCm39) |
D592E |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
| Mamdc2 |
T |
A |
19: 23,280,997 (GRCm39) |
I684F |
probably damaging |
Het |
| Mia2 |
T |
C |
12: 59,155,156 (GRCm39) |
Y290H |
probably damaging |
Het |
| Mup12 |
C |
T |
4: 60,696,642 (GRCm39) |
|
probably null |
Het |
| Olr1 |
T |
A |
6: 129,477,040 (GRCm39) |
|
probably null |
Het |
| Or51a24 |
T |
C |
7: 103,733,661 (GRCm39) |
T209A |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,607,860 (GRCm39) |
V364A |
possibly damaging |
Het |
| Pfkp |
A |
G |
13: 6,636,575 (GRCm39) |
S654P |
possibly damaging |
Het |
| Rab3gap2 |
T |
G |
1: 185,015,607 (GRCm39) |
V1275G |
probably damaging |
Het |
| Rbbp4 |
A |
G |
4: 129,222,414 (GRCm39) |
F93L |
probably benign |
Het |
| Ripk1 |
T |
C |
13: 34,194,587 (GRCm39) |
V75A |
probably damaging |
Het |
| Scg2 |
T |
A |
1: 79,413,499 (GRCm39) |
Q368L |
possibly damaging |
Het |
| Tmprss9 |
A |
G |
10: 80,734,145 (GRCm39) |
|
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 |
|
|
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 |
|
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'- GTGTACCCTGAGCCAACAATG -3'
(R):5'- TCACATGGTGGAAACCTTCTATG -3'
Sequencing Primer
(F):5'- TGAGCCAACAATGTCCTAATAAAAC -3'
(R):5'- TGGAAACCTTCTATGCAGAGAC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation