Incidental Mutation 'R9465:Cyp2j5'
ID |
715114 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2j5
|
Ensembl Gene |
ENSMUSG00000052520 |
Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 5 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R9465 (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 96522551 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 341
(D341G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030299]
|
AlphaFold |
O54749 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030299
AA Change: D341G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030299 Gene: ENSMUSG00000052520 AA Change: D341G
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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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 |
4933427I04Rik |
A |
C |
4: 123,754,317 (GRCm39) |
H77P |
possibly damaging |
Het |
Adcy7 |
G |
T |
8: 89,046,778 (GRCm39) |
R587L |
probably benign |
Het |
Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
Atg4a-ps |
C |
T |
3: 103,553,101 (GRCm39) |
R80H |
probably damaging |
Het |
Btd |
G |
A |
14: 31,389,643 (GRCm39) |
D455N |
probably benign |
Het |
Cadps |
A |
G |
14: 12,489,002 (GRCm38) |
S852P |
possibly damaging |
Het |
Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
Dennd5b |
A |
G |
6: 148,908,260 (GRCm39) |
V1011A |
probably damaging |
Het |
Dlgap2 |
G |
A |
8: 14,828,226 (GRCm39) |
E545K |
probably damaging |
Het |
Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
Gigyf2 |
A |
G |
1: 87,334,775 (GRCm39) |
D262G |
unknown |
Het |
Gstm3 |
T |
C |
3: 107,873,431 (GRCm39) |
N180S |
possibly damaging |
Het |
Helz2 |
G |
T |
2: 180,874,710 (GRCm39) |
T1928K |
probably benign |
Het |
Hipk4 |
T |
A |
7: 27,229,160 (GRCm39) |
S537T |
probably benign |
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Il24 |
T |
C |
1: 130,813,462 (GRCm39) |
Q45R |
probably benign |
Het |
Kcnh1 |
G |
A |
1: 191,924,233 (GRCm39) |
G149E |
probably damaging |
Het |
Krtap4-2 |
A |
G |
11: 99,525,391 (GRCm39) |
S154P |
unknown |
Het |
Marveld3 |
T |
A |
8: 110,688,525 (GRCm39) |
H72L |
possibly damaging |
Het |
Med1 |
T |
C |
11: 98,049,144 (GRCm39) |
T551A |
probably benign |
Het |
Mtor |
T |
A |
4: 148,624,839 (GRCm39) |
I2150N |
possibly damaging |
Het |
Ninl |
A |
G |
2: 150,782,726 (GRCm39) |
S170P |
possibly damaging |
Het |
Or1j14 |
T |
C |
2: 36,417,898 (GRCm39) |
V158A |
probably benign |
Het |
Or6aa1 |
T |
C |
7: 86,043,864 (GRCm39) |
I281V |
probably benign |
Het |
Otog |
T |
C |
7: 45,955,299 (GRCm39) |
V563A |
possibly damaging |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Phkb |
G |
A |
8: 86,623,059 (GRCm39) |
V128I |
probably damaging |
Het |
Ppp2r3d |
A |
G |
9: 124,442,222 (GRCm38) |
L50P |
|
Het |
Prl2c5 |
C |
T |
13: 13,360,531 (GRCm39) |
S66L |
probably benign |
Het |
Ptbp1 |
T |
C |
10: 79,695,615 (GRCm39) |
S239P |
possibly damaging |
Het |
Repin1 |
A |
G |
6: 48,571,877 (GRCm39) |
K41E |
probably benign |
Het |
Scrn1 |
A |
T |
6: 54,502,649 (GRCm39) |
I130N |
probably damaging |
Het |
Spata31 |
T |
A |
13: 65,068,527 (GRCm39) |
L225Q |
probably damaging |
Het |
Spred1 |
G |
A |
2: 116,983,648 (GRCm39) |
|
probably null |
Het |
Taar7e |
A |
G |
10: 23,914,310 (GRCm39) |
R267G |
possibly damaging |
Het |
Tgm5 |
T |
A |
2: 120,905,633 (GRCm39) |
Y174F |
probably damaging |
Het |
Tmprss11f |
T |
C |
5: 86,685,876 (GRCm39) |
I164V |
probably damaging |
Het |
Tomm22 |
T |
C |
15: 79,555,468 (GRCm39) |
L71P |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,577,531 (GRCm39) |
G24454V |
probably damaging |
Het |
Wdr64 |
A |
G |
1: 175,618,823 (GRCm39) |
S739G |
possibly damaging |
Het |
Zswim2 |
C |
T |
2: 83,746,275 (GRCm39) |
V388I |
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 |
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 |
|
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'- AATGCATCATTACCTTTGGCAG -3'
(R):5'- GGTTGAGGAAGAATGTCCAATTCC -3'
Sequencing Primer
(F):5'- CCTTTGGCAGGTGGAATCCATTAAAC -3'
(R):5'- TTTTTCCTTCCTCATAGGTTTAGAAG -3'
|
Posted On |
2022-06-15 |