Incidental Mutation 'R6132:Cyp2c68'
| ID |
487211 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c68
|
| Ensembl Gene |
ENSMUSG00000074882 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 68 |
| Synonyms |
9030012A22Rik |
| MMRRC Submission |
044279-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6132 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
39677278-39729498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39691858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 355
(V355A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099472]
|
| AlphaFold |
K7N6C2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099472
AA Change: V355A
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097071
Gene: ENSMUSG00000074882
AA Change: V355A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
2.1e-150 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (49/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,960,643 (GRCm39) |
Y702H |
probably benign |
Het |
| Adgrv1 |
G |
T |
13: 81,654,195 (GRCm39) |
N2225K |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Alkbh5 |
G |
T |
11: 60,428,821 (GRCm39) |
|
probably benign |
Het |
| Atp5mc1 |
A |
G |
11: 95,965,850 (GRCm39) |
M1T |
probably null |
Het |
| Crebrf |
C |
T |
17: 26,982,377 (GRCm39) |
P588S |
probably benign |
Het |
| Ctsr |
A |
C |
13: 61,309,582 (GRCm39) |
|
probably null |
Het |
| Ddx52 |
A |
G |
11: 83,850,283 (GRCm39) |
K555E |
possibly damaging |
Het |
| Depdc5 |
T |
A |
5: 33,067,811 (GRCm39) |
S410T |
probably damaging |
Het |
| Dhx30 |
A |
T |
9: 109,914,847 (GRCm39) |
I884N |
probably damaging |
Het |
| Dlg1 |
A |
T |
16: 31,655,059 (GRCm39) |
N518I |
possibly damaging |
Het |
| Dnah12 |
T |
A |
14: 26,439,066 (GRCm39) |
I506N |
probably damaging |
Het |
| Efcab6 |
A |
G |
15: 83,917,173 (GRCm39) |
L129P |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,808,401 (GRCm39) |
N38D |
probably benign |
Het |
| Esf1 |
A |
G |
2: 140,001,699 (GRCm39) |
F383L |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,735,033 (GRCm39) |
E550G |
probably damaging |
Het |
| Fbxo44 |
G |
A |
4: 148,240,565 (GRCm39) |
T221I |
probably benign |
Het |
| Gal3st2b |
A |
T |
1: 93,867,688 (GRCm39) |
M112L |
possibly damaging |
Het |
| Golph3l |
C |
G |
3: 95,499,145 (GRCm39) |
P96A |
probably benign |
Het |
| Gprc6a |
T |
A |
10: 51,491,356 (GRCm39) |
I727F |
possibly damaging |
Het |
| Grin3b |
T |
C |
10: 79,812,274 (GRCm39) |
L479P |
probably damaging |
Het |
| Kdm5a |
C |
T |
6: 120,351,892 (GRCm39) |
H161Y |
probably damaging |
Het |
| Lman2 |
A |
G |
13: 55,510,038 (GRCm39) |
S73P |
probably benign |
Het |
| Map3k19 |
T |
C |
1: 127,778,213 (GRCm39) |
N4S |
possibly damaging |
Het |
| Mkln1 |
G |
A |
6: 31,408,155 (GRCm39) |
V161M |
probably damaging |
Het |
| Mmel1 |
C |
T |
4: 154,979,475 (GRCm39) |
H728Y |
probably damaging |
Het |
| Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
| Nrcam |
T |
A |
12: 44,617,007 (GRCm39) |
Y668N |
probably damaging |
Het |
| Oacyl |
G |
T |
18: 65,859,426 (GRCm39) |
G255W |
probably damaging |
Het |
| Omd |
A |
C |
13: 49,743,843 (GRCm39) |
I298L |
probably damaging |
Het |
| Or5ac19 |
A |
G |
16: 59,089,367 (GRCm39) |
V221A |
probably damaging |
Het |
| Or5ak24 |
A |
T |
2: 85,260,490 (GRCm39) |
S228T |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Otor |
A |
T |
2: 142,920,520 (GRCm39) |
D34V |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Pwwp2a |
A |
G |
11: 43,596,455 (GRCm39) |
Y540C |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,133,770 (GRCm39) |
|
probably null |
Het |
| S1pr4 |
G |
A |
10: 81,335,030 (GRCm39) |
A148V |
probably benign |
Het |
| Scn10a |
C |
T |
9: 119,442,761 (GRCm39) |
V1495M |
possibly damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,357,531 (GRCm39) |
K154E |
possibly damaging |
Het |
| Sema3a |
T |
G |
5: 13,573,142 (GRCm39) |
|
probably null |
Het |
| Slf2 |
T |
A |
19: 44,949,300 (GRCm39) |
N870K |
possibly damaging |
Het |
| Spmip6 |
C |
T |
4: 41,517,160 (GRCm39) |
M1I |
probably null |
Het |
| Syne2 |
T |
C |
12: 75,991,921 (GRCm39) |
V1962A |
probably benign |
Het |
| Tarbp1 |
T |
A |
8: 127,161,548 (GRCm39) |
I1219F |
probably benign |
Het |
| Tet1 |
A |
C |
10: 62,649,079 (GRCm39) |
C173W |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,973,641 (GRCm39) |
F242S |
probably damaging |
Het |
| Tollip |
A |
G |
7: 141,443,334 (GRCm39) |
S174P |
probably benign |
Het |
| Tsr3 |
G |
T |
17: 25,460,835 (GRCm39) |
D234Y |
probably null |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,666 (GRCm39) |
T578A |
probably benign |
Het |
| Zfp457 |
G |
T |
13: 67,441,360 (GRCm39) |
S309* |
probably null |
Het |
|
| Other mutations in Cyp2c68 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Cyp2c68
|
APN |
19 |
39,700,939 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00826:Cyp2c68
|
APN |
19 |
39,727,949 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01363:Cyp2c68
|
APN |
19 |
39,691,871 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01892:Cyp2c68
|
APN |
19 |
39,722,788 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02088:Cyp2c68
|
APN |
19 |
39,691,965 (GRCm39) |
splice site |
probably benign |
|
|
IGL02422:Cyp2c68
|
APN |
19 |
39,722,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03047:Cyp2c68
|
UTSW |
19 |
39,722,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0523:Cyp2c68
|
UTSW |
19 |
39,727,873 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0729:Cyp2c68
|
UTSW |
19 |
39,727,994 (GRCm39) |
splice site |
probably benign |
|
|
R0975:Cyp2c68
|
UTSW |
19 |
39,691,802 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1117:Cyp2c68
|
UTSW |
19 |
39,700,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1355:Cyp2c68
|
UTSW |
19 |
39,729,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1370:Cyp2c68
|
UTSW |
19 |
39,729,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1436:Cyp2c68
|
UTSW |
19 |
39,729,484 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1564:Cyp2c68
|
UTSW |
19 |
39,724,024 (GRCm39) |
nonsense |
probably null |
|
|
R1730:Cyp2c68
|
UTSW |
19 |
39,687,719 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1865:Cyp2c68
|
UTSW |
19 |
39,722,733 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1905:Cyp2c68
|
UTSW |
19 |
39,724,026 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1951:Cyp2c68
|
UTSW |
19 |
39,700,972 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1952:Cyp2c68
|
UTSW |
19 |
39,700,972 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2224:Cyp2c68
|
UTSW |
19 |
39,724,026 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2230:Cyp2c68
|
UTSW |
19 |
39,687,804 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2231:Cyp2c68
|
UTSW |
19 |
39,687,804 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2866:Cyp2c68
|
UTSW |
19 |
39,677,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3104:Cyp2c68
|
UTSW |
19 |
39,722,757 (GRCm39) |
missense |
probably benign |
|
|
R4409:Cyp2c68
|
UTSW |
19 |
39,727,896 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4575:Cyp2c68
|
UTSW |
19 |
39,722,805 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4620:Cyp2c68
|
UTSW |
19 |
39,701,006 (GRCm39) |
splice site |
probably null |
|
|
R4684:Cyp2c68
|
UTSW |
19 |
39,687,779 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5023:Cyp2c68
|
UTSW |
19 |
39,700,951 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5410:Cyp2c68
|
UTSW |
19 |
39,687,728 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5513:Cyp2c68
|
UTSW |
19 |
39,691,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Cyp2c68
|
UTSW |
19 |
39,677,526 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5706:Cyp2c68
|
UTSW |
19 |
39,722,762 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5890:Cyp2c68
|
UTSW |
19 |
39,700,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5897:Cyp2c68
|
UTSW |
19 |
39,700,975 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6007:Cyp2c68
|
UTSW |
19 |
39,722,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6187:Cyp2c68
|
UTSW |
19 |
39,729,452 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6229:Cyp2c68
|
UTSW |
19 |
39,727,622 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6341:Cyp2c68
|
UTSW |
19 |
39,700,933 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7209:Cyp2c68
|
UTSW |
19 |
39,677,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7330:Cyp2c68
|
UTSW |
19 |
39,677,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7374:Cyp2c68
|
UTSW |
19 |
39,727,648 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7402:Cyp2c68
|
UTSW |
19 |
39,729,318 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7483:Cyp2c68
|
UTSW |
19 |
39,677,581 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9103:Cyp2c68
|
UTSW |
19 |
39,727,625 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9204:Cyp2c68
|
UTSW |
19 |
39,727,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Cyp2c68
|
UTSW |
19 |
39,687,833 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
Z1088:Cyp2c68
|
UTSW |
19 |
39,727,907 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCATATTGCTGCTACCATGTC -3'
(R):5'- TGGGCCACTTTCTTCATGGC -3'
Sequencing Primer
(F):5'- ACCATGTCCCTGCCTCATTATAG -3'
(R):5'- ACTTTCTTCATGGCCTAGGTAAC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation