Incidental Mutation 'R5388:Cyp2e1'
| ID |
425414 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2e1
|
| Ensembl Gene |
ENSMUSG00000025479 |
| Gene Name |
cytochrome P450, family 2, subfamily e, polypeptide 1 |
| Synonyms |
Cyp2e |
| MMRRC Submission |
042960-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5388 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140343732-140354903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140343906 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 48
(L48P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026552
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026552]
[ENSMUST00000209253]
[ENSMUST00000210235]
|
| AlphaFold |
Q05421 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026552
AA Change: L48P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026552
Gene: ENSMUSG00000025479
AA Change: L48P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
2 |
23 |
N/A |
INTRINSIC |
|
Pfam:p450
|
33 |
489 |
1.4e-147 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209253
AA Change: L48P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210235
AA Change: L48P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210403
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (57/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit altered responses to xenobiotics including decreased urethane-induced tumors and allylnitrile- or acetamenophen-associated mortality but increased allylnitrile-induced vestibular function loss. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,139,969 (GRCm39) |
|
probably null |
Het |
| Acap2 |
C |
A |
16: 30,928,543 (GRCm39) |
C475F |
probably damaging |
Het |
| Ace |
C |
A |
11: 105,879,284 (GRCm39) |
P603Q |
possibly damaging |
Het |
| Adamts20 |
C |
G |
15: 94,243,659 (GRCm39) |
V657L |
possibly damaging |
Het |
| Antxr2 |
A |
G |
5: 98,125,458 (GRCm39) |
|
probably null |
Het |
| Atp6v1b2 |
G |
A |
8: 69,554,089 (GRCm39) |
V89I |
probably benign |
Het |
| Cacna1e |
G |
A |
1: 154,353,542 (GRCm39) |
P676L |
probably damaging |
Het |
| Camsap3 |
A |
T |
8: 3,654,276 (GRCm39) |
I649F |
probably damaging |
Het |
| Camta1 |
G |
T |
4: 151,159,695 (GRCm39) |
S490R |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,809,719 (GRCm39) |
I2221T |
probably damaging |
Het |
| Cfd |
A |
T |
10: 79,727,959 (GRCm39) |
D164V |
probably damaging |
Het |
| Cfdp1 |
T |
C |
8: 112,495,384 (GRCm39) |
D278G |
probably damaging |
Het |
| Cntn6 |
A |
T |
6: 104,809,523 (GRCm39) |
L519F |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
| Cybrd1 |
T |
C |
2: 70,967,989 (GRCm39) |
|
probably null |
Het |
| Eddm13 |
T |
C |
7: 6,269,346 (GRCm39) |
|
probably null |
Het |
| Ep400 |
G |
A |
5: 110,849,594 (GRCm39) |
T1409I |
unknown |
Het |
| Exosc7 |
A |
T |
9: 122,947,972 (GRCm39) |
D47V |
probably damaging |
Het |
| Fgr |
T |
C |
4: 132,722,342 (GRCm39) |
F204L |
probably damaging |
Het |
| Gm10100 |
G |
A |
10: 77,562,560 (GRCm39) |
V81M |
probably benign |
Het |
| Gm12367 |
T |
C |
4: 35,235,690 (GRCm39) |
|
noncoding transcript |
Het |
| Grxcr1 |
C |
A |
5: 68,323,538 (GRCm39) |
T272K |
probably damaging |
Het |
| Kcna5 |
C |
T |
6: 126,511,859 (GRCm39) |
D90N |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,536,635 (GRCm39) |
Y618* |
probably null |
Het |
| Lama5 |
T |
A |
2: 179,832,539 (GRCm39) |
H1670L |
possibly damaging |
Het |
| Mtus2 |
C |
T |
5: 148,243,518 (GRCm39) |
Q113* |
probably null |
Het |
| Ncam1 |
A |
C |
9: 49,456,054 (GRCm39) |
D521E |
probably benign |
Het |
| Nkapl |
T |
C |
13: 21,651,740 (GRCm39) |
H291R |
possibly damaging |
Het |
| Nlrp1b |
T |
G |
11: 71,062,967 (GRCm39) |
N695H |
probably damaging |
Het |
| Npc1l1 |
T |
A |
11: 6,164,733 (GRCm39) |
Q1105H |
probably damaging |
Het |
| Paxip1 |
C |
G |
5: 27,986,453 (GRCm39) |
|
probably benign |
Het |
| Pign |
A |
T |
1: 105,583,695 (GRCm39) |
W136R |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,741,856 (GRCm39) |
T175A |
possibly damaging |
Het |
| Pkn3 |
T |
A |
2: 29,971,086 (GRCm39) |
S222T |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,898,338 (GRCm39) |
I98N |
probably damaging |
Het |
| Ppfibp1 |
T |
G |
6: 146,917,828 (GRCm39) |
S484A |
probably damaging |
Het |
| Ppp1r7 |
T |
C |
1: 93,280,312 (GRCm39) |
F127L |
probably damaging |
Het |
| Pramel1 |
T |
C |
4: 143,123,954 (GRCm39) |
Y210H |
probably benign |
Het |
| Rad21l |
C |
T |
2: 151,495,403 (GRCm39) |
V427I |
probably benign |
Het |
| Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
| Rnf225 |
A |
G |
7: 12,661,932 (GRCm39) |
D37G |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,363,967 (GRCm39) |
|
probably null |
Het |
| Spata31h1 |
T |
C |
10: 82,119,561 (GRCm39) |
Q4483R |
probably damaging |
Het |
| Tmem38b |
C |
T |
4: 53,859,945 (GRCm39) |
R242W |
probably benign |
Het |
| Topaz1 |
A |
T |
9: 122,603,158 (GRCm39) |
K1035I |
possibly damaging |
Het |
| Trhr |
T |
C |
15: 44,060,873 (GRCm39) |
I131T |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,819,294 (GRCm39) |
D252G |
probably benign |
Het |
| Usp14 |
C |
T |
18: 10,018,023 (GRCm39) |
E90K |
probably damaging |
Het |
| Yme1l1 |
T |
G |
2: 23,052,569 (GRCm39) |
D74E |
probably benign |
Het |
| Ythdc2 |
T |
A |
18: 44,990,092 (GRCm39) |
L732Q |
possibly damaging |
Het |
| Zbbx |
G |
T |
3: 74,990,977 (GRCm39) |
A289D |
probably damaging |
Het |
| Zfhx3 |
G |
A |
8: 109,673,446 (GRCm39) |
V1499I |
possibly damaging |
Het |
| Zfp622 |
T |
C |
15: 25,996,285 (GRCm39) |
V184A |
possibly damaging |
Het |
|
| Other mutations in Cyp2e1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00706:Cyp2e1
|
APN |
7 |
140,349,066 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01755:Cyp2e1
|
APN |
7 |
140,354,469 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01884:Cyp2e1
|
APN |
7 |
140,353,663 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01950:Cyp2e1
|
APN |
7 |
140,344,874 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01964:Cyp2e1
|
APN |
7 |
140,343,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02430:Cyp2e1
|
APN |
7 |
140,350,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02505:Cyp2e1
|
APN |
7 |
140,349,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02596:Cyp2e1
|
APN |
7 |
140,350,031 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02725:Cyp2e1
|
APN |
7 |
140,343,828 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02887:Cyp2e1
|
APN |
7 |
140,343,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03114:Cyp2e1
|
APN |
7 |
140,353,042 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03146:Cyp2e1
|
APN |
7 |
140,350,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03340:Cyp2e1
|
APN |
7 |
140,344,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1396:Cyp2e1
|
UTSW |
7 |
140,352,992 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2111:Cyp2e1
|
UTSW |
7 |
140,353,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2230:Cyp2e1
|
UTSW |
7 |
140,344,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2231:Cyp2e1
|
UTSW |
7 |
140,344,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2383:Cyp2e1
|
UTSW |
7 |
140,349,981 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3778:Cyp2e1
|
UTSW |
7 |
140,343,822 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4082:Cyp2e1
|
UTSW |
7 |
140,350,991 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4707:Cyp2e1
|
UTSW |
7 |
140,343,821 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4751:Cyp2e1
|
UTSW |
7 |
140,354,629 (GRCm39) |
nonsense |
probably null |
|
|
R4784:Cyp2e1
|
UTSW |
7 |
140,343,821 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4792:Cyp2e1
|
UTSW |
7 |
140,353,588 (GRCm39) |
missense |
probably benign |
|
|
R4917:Cyp2e1
|
UTSW |
7 |
140,354,527 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4934:Cyp2e1
|
UTSW |
7 |
140,350,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Cyp2e1
|
UTSW |
7 |
140,354,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5423:Cyp2e1
|
UTSW |
7 |
140,350,031 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6740:Cyp2e1
|
UTSW |
7 |
140,343,693 (GRCm39) |
unclassified |
probably benign |
|
|
R7065:Cyp2e1
|
UTSW |
7 |
140,343,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7154:Cyp2e1
|
UTSW |
7 |
140,350,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8054:Cyp2e1
|
UTSW |
7 |
140,350,871 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9130:Cyp2e1
|
UTSW |
7 |
140,353,022 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTTAGAGTGGAGCCCCATCG -3'
(R):5'- AATCACTTCAAATGTACAGGGCC -3'
Sequencing Primer
(F):5'- CCCCATCGGCACCATGG -3'
(R):5'- CTTCAAATGTACAGGGCCTCTGAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation