Incidental Mutation 'R5132:Cyp2j5'
| ID |
395861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2j5
|
| Ensembl Gene |
ENSMUSG00000052520 |
| Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 5 |
| Synonyms |
|
| MMRRC Submission |
042720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R5132 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
96517010-96552391 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96517733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 493
(Y493C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030299]
|
| AlphaFold |
O54749 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030299
AA Change: Y493C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030299
Gene: ENSMUSG00000052520
AA Change: Y493C
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
A |
T |
1: 156,469,402 (GRCm39) |
K785* |
probably null |
Het |
| Acad11 |
A |
T |
9: 104,003,791 (GRCm39) |
I628L |
probably benign |
Het |
| Ago1 |
T |
C |
4: 126,355,516 (GRCm39) |
I98V |
probably benign |
Het |
| Bach2 |
A |
G |
4: 32,563,396 (GRCm39) |
|
probably benign |
Het |
| Calr3 |
C |
T |
8: 73,185,212 (GRCm39) |
|
probably null |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cdc42ep3 |
C |
T |
17: 79,642,803 (GRCm39) |
R39H |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,749,040 (GRCm39) |
D66E |
probably benign |
Het |
| Drosha |
A |
G |
15: 12,837,377 (GRCm39) |
D287G |
unknown |
Het |
| Gm8888 |
A |
G |
15: 96,664,892 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr25 |
G |
T |
1: 136,188,103 (GRCm39) |
A170E |
probably damaging |
Het |
| Gria1 |
A |
G |
11: 57,180,225 (GRCm39) |
Y656C |
probably damaging |
Het |
| Grik5 |
C |
T |
7: 24,764,629 (GRCm39) |
V145I |
probably benign |
Het |
| Htt |
T |
C |
5: 35,063,023 (GRCm39) |
V2885A |
possibly damaging |
Het |
| Larp6 |
A |
G |
9: 60,644,493 (GRCm39) |
E211G |
probably damaging |
Het |
| Magi1 |
C |
A |
6: 93,660,072 (GRCm39) |
|
probably null |
Het |
| Mtbp |
A |
G |
15: 55,421,965 (GRCm39) |
S63G |
possibly damaging |
Het |
| Ndor1 |
A |
T |
2: 25,137,781 (GRCm39) |
S513T |
probably benign |
Het |
| Nsd3 |
A |
G |
8: 26,168,855 (GRCm39) |
D670G |
possibly damaging |
Het |
| Or10ag56 |
A |
T |
2: 87,139,282 (GRCm39) |
M50L |
probably damaging |
Het |
| Or4k49 |
T |
A |
2: 111,495,344 (GRCm39) |
Y258N |
probably damaging |
Het |
| Or5e1 |
T |
C |
7: 108,354,477 (GRCm39) |
V138A |
probably damaging |
Het |
| Pcdh7 |
T |
C |
5: 57,885,463 (GRCm39) |
V1061A |
probably benign |
Het |
| Pdia4 |
A |
G |
6: 47,773,669 (GRCm39) |
I560T |
probably benign |
Het |
| Pomt2 |
A |
G |
12: 87,157,121 (GRCm39) |
F733L |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,061,121 (GRCm39) |
|
probably benign |
Het |
| Prkca |
T |
C |
11: 108,082,943 (GRCm39) |
|
probably benign |
Het |
| Pspc1 |
A |
T |
14: 56,960,707 (GRCm39) |
S473T |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,147,156 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
C |
T |
2: 65,298,548 (GRCm39) |
V1384I |
probably benign |
Het |
| Serpinb6a |
C |
T |
13: 34,102,305 (GRCm39) |
D307N |
probably benign |
Het |
| Smap2 |
T |
C |
4: 120,830,370 (GRCm39) |
E255G |
possibly damaging |
Het |
| Spmip6 |
A |
G |
4: 41,517,178 (GRCm39) |
|
probably benign |
Het |
| St7 |
A |
T |
6: 17,854,956 (GRCm39) |
I298F |
probably damaging |
Het |
| Tgm7 |
A |
G |
2: 120,934,700 (GRCm39) |
F93L |
probably damaging |
Het |
| Timm23 |
A |
T |
14: 31,915,902 (GRCm39) |
D56E |
probably damaging |
Het |
| Tmem170 |
A |
T |
8: 112,596,357 (GRCm39) |
M56K |
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 |
|
|
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'- CCCTTTAGATGATAAGGTATGTCACT -3'
(R):5'- CATTTTCTGTTTCATCCCACAGG -3'
Sequencing Primer
(F):5'- ACATAGGTGATTTGTCCAGAGAC -3'
(R):5'- CCCACAGGAAAAAGAGCTTGTCTTG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation