Incidental Mutation 'IGL03024:Cyp2j5'
| ID |
408062 |
| 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: 0.060)
|
| Stock # |
IGL03024
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
96517010-96552391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96517760 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 484
(M484K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030299]
|
| AlphaFold |
O54749 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030299
AA Change: M484K
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000030299
Gene: ENSMUSG00000052520
AA Change: M484K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
497 |
2.3e-140 |
PFAM |
|
| Meta Mutation Damage Score |
0.2116 |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,212,464 (GRCm39) |
F257L |
probably benign |
Het |
| Aaas |
A |
G |
15: 102,258,926 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
C |
T |
17: 47,757,513 (GRCm39) |
R57W |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Bahd1 |
T |
C |
2: 118,746,597 (GRCm39) |
V72A |
probably damaging |
Het |
| Bcl3 |
A |
G |
7: 19,543,059 (GRCm39) |
|
probably benign |
Het |
| Blnk |
A |
T |
19: 40,982,445 (GRCm39) |
|
probably benign |
Het |
| Cd81 |
T |
C |
7: 142,621,089 (GRCm39) |
I230T |
probably benign |
Het |
| Cdc20b |
A |
T |
13: 113,227,576 (GRCm39) |
R485S |
possibly damaging |
Het |
| Cenpp |
C |
A |
13: 49,617,730 (GRCm39) |
A273S |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,236,868 (GRCm39) |
V2022A |
probably benign |
Het |
| Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
| Cfap61 |
C |
A |
2: 145,781,919 (GRCm39) |
|
probably benign |
Het |
| Col8a1 |
T |
A |
16: 57,448,727 (GRCm39) |
H261L |
unknown |
Het |
| D930020B18Rik |
T |
C |
10: 121,521,527 (GRCm39) |
|
probably benign |
Het |
| Dhdds |
A |
T |
4: 133,710,160 (GRCm39) |
L203Q |
probably damaging |
Het |
| Dusp6 |
A |
G |
10: 99,102,156 (GRCm39) |
T381A |
probably damaging |
Het |
| Elp1 |
A |
G |
4: 56,774,686 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
A |
G |
2: 90,581,523 (GRCm39) |
D192G |
probably benign |
Het |
| Gbp2 |
G |
T |
3: 142,337,780 (GRCm39) |
V299F |
probably damaging |
Het |
| Gfpt1 |
G |
T |
6: 87,030,813 (GRCm39) |
V66F |
probably damaging |
Het |
| Heatr1 |
T |
C |
13: 12,422,390 (GRCm39) |
|
probably benign |
Het |
| Irf8 |
T |
A |
8: 121,480,097 (GRCm39) |
S112T |
probably damaging |
Het |
| Jmy |
G |
T |
13: 93,635,707 (GRCm39) |
N36K |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,498,193 (GRCm39) |
I866T |
probably benign |
Het |
| Kif1c |
A |
T |
11: 70,596,015 (GRCm39) |
M210L |
probably damaging |
Het |
| Kng1 |
G |
A |
16: 22,893,442 (GRCm39) |
V272I |
possibly damaging |
Het |
| Lrig2 |
A |
C |
3: 104,401,389 (GRCm39) |
M166R |
probably damaging |
Het |
| Mastl |
A |
G |
2: 23,029,931 (GRCm39) |
L265P |
probably damaging |
Het |
| Mmp27 |
A |
G |
9: 7,581,377 (GRCm39) |
T547A |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,139,305 (GRCm39) |
C541R |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,325,862 (GRCm39) |
F15L |
possibly damaging |
Het |
| Nipal1 |
G |
T |
5: 72,820,968 (GRCm39) |
|
probably null |
Het |
| Nrp2 |
A |
T |
1: 62,810,893 (GRCm39) |
N645Y |
probably damaging |
Het |
| Or1j19 |
T |
A |
2: 36,676,858 (GRCm39) |
F107Y |
possibly damaging |
Het |
| Or4g17 |
T |
A |
2: 111,209,935 (GRCm39) |
F197I |
possibly damaging |
Het |
| Or7d9 |
T |
A |
9: 20,197,280 (GRCm39) |
M103K |
probably benign |
Het |
| Plcl1 |
T |
A |
1: 55,734,946 (GRCm39) |
S96T |
probably damaging |
Het |
| Prl2c1 |
A |
C |
13: 28,040,524 (GRCm39) |
D139A |
probably benign |
Het |
| Prmt5 |
A |
T |
14: 54,754,055 (GRCm39) |
M43K |
possibly damaging |
Het |
| Ptpn21 |
T |
A |
12: 98,646,315 (GRCm39) |
M1048L |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,521,427 (GRCm39) |
E653G |
possibly damaging |
Het |
| Rbm6 |
A |
G |
9: 107,664,567 (GRCm39) |
S689P |
probably damaging |
Het |
| Rtn3 |
A |
G |
19: 7,460,455 (GRCm39) |
|
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,991,458 (GRCm39) |
I241T |
probably benign |
Het |
| Sipa1 |
A |
T |
19: 5,706,189 (GRCm39) |
D380E |
probably damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,650,442 (GRCm39) |
V560A |
probably benign |
Het |
| Speer2 |
T |
C |
16: 69,655,003 (GRCm39) |
H154R |
possibly damaging |
Het |
| Tlk1 |
A |
T |
2: 70,576,380 (GRCm39) |
C247* |
probably null |
Het |
| Trim15 |
A |
G |
17: 37,177,785 (GRCm39) |
L70P |
probably damaging |
Het |
| Ttc9b |
T |
C |
7: 27,354,358 (GRCm39) |
L148P |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,232,538 (GRCm39) |
P627S |
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 |
|
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 |
2016-08-02 |
Incidental Mutation