Incidental Mutation 'R5309:Cyp2j6'
| ID |
404702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2j6
|
| Ensembl Gene |
ENSMUSG00000052914 |
| Gene Name |
cytochrome P450, family 2, subfamily j, polypeptide 6 |
| Synonyms |
|
| MMRRC Submission |
042892-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R5309 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
96404375-96441898 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96423793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 192
(I192F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030303
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030303]
|
| AlphaFold |
O54750 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030303
AA Change: I192F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030303
Gene: ENSMUSG00000052914
AA Change: I192F
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
10 |
32 |
N/A |
INTRINSIC |
|
Pfam:p450
|
44 |
497 |
6.6e-138 |
PFAM |
|
| Meta Mutation Damage Score |
0.2652 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
99% (68/69) |
| 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 thought to be the predominant enzyme responsible for epoxidation of endogenous arachidonic acid in cardiac tissue. Multiple transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
T |
C |
6: 132,603,540 (GRCm39) |
Q72R |
unknown |
Het |
| Abca15 |
T |
C |
7: 119,944,592 (GRCm39) |
V409A |
probably damaging |
Het |
| Abcg3 |
A |
C |
5: 105,084,465 (GRCm39) |
C577G |
possibly damaging |
Het |
| Adamtsl5 |
A |
T |
10: 80,180,982 (GRCm39) |
|
probably benign |
Het |
| Adgrg3 |
G |
A |
8: 95,766,492 (GRCm39) |
V388I |
probably benign |
Het |
| Ank2 |
T |
C |
3: 126,753,417 (GRCm39) |
Q288R |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cdh3 |
A |
G |
8: 107,265,652 (GRCm39) |
T232A |
probably damaging |
Het |
| Cfap210 |
T |
C |
2: 69,617,602 (GRCm39) |
T60A |
possibly damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,666,249 (GRCm39) |
E1093V |
probably benign |
Het |
| Cplx3 |
A |
T |
9: 57,518,360 (GRCm39) |
L343Q |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,574,110 (GRCm39) |
H258R |
probably benign |
Het |
| Dnaaf5 |
T |
A |
5: 139,138,617 (GRCm39) |
V266E |
probably damaging |
Het |
| Egfr |
G |
A |
11: 16,861,703 (GRCm39) |
G1161S |
probably benign |
Het |
| Ehmt1 |
A |
G |
2: 24,774,207 (GRCm39) |
V201A |
probably damaging |
Het |
| Exoc7 |
C |
A |
11: 116,195,853 (GRCm39) |
E28* |
probably null |
Het |
| Fam118a |
C |
T |
15: 84,934,956 (GRCm39) |
T195M |
probably damaging |
Het |
| Fancg |
A |
G |
4: 43,003,019 (GRCm39) |
F613L |
probably benign |
Het |
| Fbxo10 |
A |
T |
4: 45,042,036 (GRCm39) |
I731N |
possibly damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Gfm2 |
G |
A |
13: 97,299,659 (GRCm39) |
A406T |
probably damaging |
Het |
| Gnal |
G |
A |
18: 67,346,178 (GRCm39) |
R219K |
possibly damaging |
Het |
| Helz2 |
T |
A |
2: 180,876,639 (GRCm39) |
E1285V |
probably benign |
Het |
| Ighv1-74 |
A |
G |
12: 115,766,501 (GRCm39) |
S39P |
probably damaging |
Het |
| Ipo11 |
T |
C |
13: 106,970,481 (GRCm39) |
|
probably benign |
Het |
| Klc1 |
A |
G |
12: 111,762,055 (GRCm39) |
K575R |
possibly damaging |
Het |
| Larp1 |
T |
C |
11: 57,941,634 (GRCm39) |
V689A |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,302,559 (GRCm39) |
V825E |
probably damaging |
Het |
| Mmp9 |
T |
A |
2: 164,792,715 (GRCm39) |
|
probably benign |
Het |
| Myog |
A |
G |
1: 134,218,064 (GRCm39) |
K91E |
probably damaging |
Het |
| Nfil3 |
A |
T |
13: 53,121,656 (GRCm39) |
V416E |
probably damaging |
Het |
| Nup160 |
G |
T |
2: 90,563,176 (GRCm39) |
E1314* |
probably null |
Het |
| Or4g17 |
T |
C |
2: 111,210,179 (GRCm39) |
V278A |
possibly damaging |
Het |
| Or4k35 |
T |
G |
2: 111,100,655 (GRCm39) |
D19A |
probably benign |
Het |
| Or6c66b |
A |
C |
10: 129,377,134 (GRCm39) |
M243L |
probably benign |
Het |
| Or6c75 |
T |
A |
10: 129,337,383 (GRCm39) |
V210E |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,106,418 (GRCm39) |
V275E |
probably benign |
Het |
| Osbpl9 |
A |
G |
4: 108,923,352 (GRCm39) |
S520P |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,573,147 (GRCm39) |
|
probably null |
Het |
| Proz |
T |
C |
8: 13,111,049 (GRCm39) |
L7P |
probably damaging |
Het |
| Ptpn13 |
G |
A |
5: 103,688,919 (GRCm39) |
S904N |
probably damaging |
Het |
| Rap1gds1 |
A |
G |
3: 138,664,389 (GRCm39) |
L322P |
probably damaging |
Het |
| Rnf5 |
A |
G |
17: 34,820,562 (GRCm39) |
F175S |
probably benign |
Het |
| Sema4a |
G |
A |
3: 88,344,343 (GRCm39) |
S636F |
probably damaging |
Het |
| Sfrp2 |
A |
G |
3: 83,676,708 (GRCm39) |
D193G |
probably damaging |
Het |
| Shoc2 |
T |
C |
19: 53,976,164 (GRCm39) |
V18A |
probably benign |
Het |
| Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
| Slc10a6 |
A |
T |
5: 103,756,958 (GRCm39) |
C269S |
probably damaging |
Het |
| Slc34a2 |
A |
G |
5: 53,226,830 (GRCm39) |
E651G |
probably damaging |
Het |
| Snx13 |
C |
T |
12: 35,194,324 (GRCm39) |
Q956* |
probably null |
Het |
| Spg21 |
A |
G |
9: 65,376,084 (GRCm39) |
I31V |
probably benign |
Het |
| Srpk2 |
T |
C |
5: 23,730,716 (GRCm39) |
K268E |
probably damaging |
Het |
| Supt16 |
T |
C |
14: 52,400,155 (GRCm39) |
E996G |
probably damaging |
Het |
| Syf2 |
A |
G |
4: 134,663,380 (GRCm39) |
D184G |
probably benign |
Het |
| Tmem45a2 |
T |
C |
16: 56,859,370 (GRCm39) |
D287G |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,603,513 (GRCm39) |
D627E |
probably damaging |
Het |
| Vmn1r170 |
T |
A |
7: 23,305,880 (GRCm39) |
I94N |
probably damaging |
Het |
| Vmn2r103 |
A |
T |
17: 20,013,296 (GRCm39) |
N139I |
probably benign |
Het |
| Vmn2r15 |
T |
A |
5: 109,440,956 (GRCm39) |
I301F |
probably damaging |
Het |
| Vps35l |
T |
C |
7: 118,412,799 (GRCm39) |
I629T |
probably damaging |
Het |
| Zfp949 |
A |
C |
9: 88,449,236 (GRCm39) |
T14P |
possibly damaging |
Het |
|
| Other mutations in Cyp2j6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Cyp2j6
|
APN |
4 |
96,424,283 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01543:Cyp2j6
|
APN |
4 |
96,414,161 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02324:Cyp2j6
|
APN |
4 |
96,414,170 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02727:Cyp2j6
|
APN |
4 |
96,434,001 (GRCm39) |
missense |
probably benign |
|
|
IGL02963:Cyp2j6
|
APN |
4 |
96,406,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03099:Cyp2j6
|
APN |
4 |
96,424,328 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0109:Cyp2j6
|
UTSW |
4 |
96,406,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0109:Cyp2j6
|
UTSW |
4 |
96,406,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0376:Cyp2j6
|
UTSW |
4 |
96,414,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0448:Cyp2j6
|
UTSW |
4 |
96,433,965 (GRCm39) |
missense |
probably benign |
|
|
R0471:Cyp2j6
|
UTSW |
4 |
96,419,985 (GRCm39) |
nonsense |
probably null |
|
|
R0734:Cyp2j6
|
UTSW |
4 |
96,412,081 (GRCm39) |
splice site |
probably benign |
|
|
R1497:Cyp2j6
|
UTSW |
4 |
96,419,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Cyp2j6
|
UTSW |
4 |
96,412,014 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2079:Cyp2j6
|
UTSW |
4 |
96,419,962 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2293:Cyp2j6
|
UTSW |
4 |
96,417,670 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2350:Cyp2j6
|
UTSW |
4 |
96,417,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2971:Cyp2j6
|
UTSW |
4 |
96,420,018 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3927:Cyp2j6
|
UTSW |
4 |
96,441,525 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4020:Cyp2j6
|
UTSW |
4 |
96,406,407 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5087:Cyp2j6
|
UTSW |
4 |
96,419,936 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5861:Cyp2j6
|
UTSW |
4 |
96,434,040 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5882:Cyp2j6
|
UTSW |
4 |
96,423,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6123:Cyp2j6
|
UTSW |
4 |
96,406,266 (GRCm39) |
makesense |
probably null |
|
|
R6180:Cyp2j6
|
UTSW |
4 |
96,424,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6181:Cyp2j6
|
UTSW |
4 |
96,424,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6182:Cyp2j6
|
UTSW |
4 |
96,424,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6185:Cyp2j6
|
UTSW |
4 |
96,424,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6186:Cyp2j6
|
UTSW |
4 |
96,424,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6217:Cyp2j6
|
UTSW |
4 |
96,406,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6784:Cyp2j6
|
UTSW |
4 |
96,423,741 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7038:Cyp2j6
|
UTSW |
4 |
96,423,708 (GRCm39) |
missense |
probably benign |
|
|
R7146:Cyp2j6
|
UTSW |
4 |
96,434,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7379:Cyp2j6
|
UTSW |
4 |
96,414,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7470:Cyp2j6
|
UTSW |
4 |
96,423,708 (GRCm39) |
missense |
probably benign |
|
|
R7536:Cyp2j6
|
UTSW |
4 |
96,423,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7789:Cyp2j6
|
UTSW |
4 |
96,433,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8321:Cyp2j6
|
UTSW |
4 |
96,441,684 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8836:Cyp2j6
|
UTSW |
4 |
96,411,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8897:Cyp2j6
|
UTSW |
4 |
96,414,087 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9315:Cyp2j6
|
UTSW |
4 |
96,420,035 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9507:Cyp2j6
|
UTSW |
4 |
96,406,344 (GRCm39) |
nonsense |
probably null |
|
|
R9563:Cyp2j6
|
UTSW |
4 |
96,414,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Cyp2j6
|
UTSW |
4 |
96,414,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9565:Cyp2j6
|
UTSW |
4 |
96,414,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9618:Cyp2j6
|
UTSW |
4 |
96,414,085 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9745:Cyp2j6
|
UTSW |
4 |
96,441,621 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Z1176:Cyp2j6
|
UTSW |
4 |
96,424,305 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGCCCAGCAGTTACATATGTATG -3'
(R):5'- TGACCAGGGCCTCTTACATG -3'
Sequencing Primer
(F):5'- CCTACCCTTCAAAGATATGC -3'
(R):5'- AGGGCCTCTTACATGTGTATTTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation