Incidental Mutation 'R3429:Cyp2c66'
ID |
268037 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c66
|
Ensembl Gene |
ENSMUSG00000067229 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 66 |
Synonyms |
2010301M18Rik |
MMRRC Submission |
040647-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R3429 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39102342-39175200 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 39151892 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 202
(N202K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084487
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087234]
[ENSMUST00000146494]
|
AlphaFold |
Q5GLZ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087234
AA Change: N202K
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000084487 Gene: ENSMUSG00000067229 AA Change: N202K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
1e-157 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146494
|
SMART Domains |
Protein: ENSMUSP00000120397 Gene: ENSMUSG00000067229
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
SCOP:d1cpt__
|
26 |
55 |
4e-9 |
SMART |
|
Meta Mutation Damage Score |
0.1583 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
98% (65/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,613,249 (GRCm39) |
M1K |
probably null |
Het |
Afap1l2 |
C |
A |
19: 56,904,238 (GRCm39) |
R683L |
probably damaging |
Het |
Ankfy1 |
C |
T |
11: 72,602,980 (GRCm39) |
|
probably benign |
Het |
Aoc1 |
A |
T |
6: 48,883,010 (GRCm39) |
E295D |
probably benign |
Het |
Asah1 |
C |
T |
8: 41,804,925 (GRCm39) |
|
probably benign |
Het |
B4galnt4 |
T |
C |
7: 140,650,752 (GRCm39) |
L842P |
probably damaging |
Het |
Bhmt |
T |
C |
13: 93,763,855 (GRCm39) |
E62G |
probably damaging |
Het |
Btbd10 |
T |
A |
7: 112,951,016 (GRCm39) |
R25* |
probably null |
Het |
Cdh5 |
T |
A |
8: 104,857,600 (GRCm39) |
I342N |
possibly damaging |
Het |
Clca3a2 |
T |
A |
3: 144,512,088 (GRCm39) |
E109D |
probably benign |
Het |
Cntrl |
T |
C |
2: 35,035,112 (GRCm39) |
L913S |
probably damaging |
Het |
Col12a1 |
T |
A |
9: 79,587,593 (GRCm39) |
T1183S |
probably benign |
Het |
Col6a6 |
A |
T |
9: 105,655,166 (GRCm39) |
Y852N |
probably damaging |
Het |
Cpeb2 |
T |
C |
5: 43,438,573 (GRCm39) |
|
probably null |
Het |
Dchs1 |
A |
G |
7: 105,405,711 (GRCm39) |
V2391A |
possibly damaging |
Het |
Dgat2 |
A |
G |
7: 98,806,300 (GRCm39) |
V299A |
probably benign |
Het |
Dnah6 |
G |
A |
6: 73,098,797 (GRCm39) |
S2034L |
possibly damaging |
Het |
Eps8l2 |
G |
A |
7: 140,937,832 (GRCm39) |
|
probably null |
Het |
Fgg |
T |
A |
3: 82,920,090 (GRCm39) |
F290I |
probably damaging |
Het |
Filip1 |
A |
T |
9: 79,760,952 (GRCm39) |
M194K |
probably damaging |
Het |
Foxl2 |
T |
C |
9: 98,838,035 (GRCm39) |
F108L |
probably damaging |
Het |
Fut1 |
T |
C |
7: 45,268,798 (GRCm39) |
F196L |
probably damaging |
Het |
Gm10323 |
A |
C |
13: 67,002,888 (GRCm39) |
W17G |
probably damaging |
Het |
Gstz1 |
T |
A |
12: 87,210,470 (GRCm39) |
|
probably null |
Het |
Hacd1 |
T |
C |
2: 14,049,586 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
T |
A |
2: 31,299,156 (GRCm39) |
L2834Q |
possibly damaging |
Het |
Hs3st3a1 |
C |
T |
11: 64,327,148 (GRCm39) |
R86W |
probably benign |
Het |
Krtap1-4 |
G |
C |
11: 99,474,020 (GRCm39) |
|
probably benign |
Het |
Lmntd2 |
A |
G |
7: 140,793,910 (GRCm39) |
V21A |
probably benign |
Het |
Lonp1 |
T |
A |
17: 56,925,337 (GRCm39) |
D485V |
probably damaging |
Het |
Mia2 |
A |
G |
12: 59,236,427 (GRCm39) |
T1346A |
possibly damaging |
Het |
Mpp2 |
T |
C |
11: 101,976,141 (GRCm39) |
T6A |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,466,866 (GRCm39) |
V1299E |
probably damaging |
Het |
Myo1d |
C |
T |
11: 80,573,236 (GRCm39) |
G197E |
probably damaging |
Het |
Nfib |
T |
C |
4: 82,416,532 (GRCm39) |
I168V |
possibly damaging |
Het |
Or2ak5 |
T |
A |
11: 58,611,097 (GRCm39) |
Y259F |
probably damaging |
Het |
Or2b7 |
A |
T |
13: 21,739,975 (GRCm39) |
C72* |
probably null |
Het |
Or2y1e |
C |
T |
11: 49,218,868 (GRCm39) |
A210V |
probably benign |
Het |
Or4c121 |
T |
A |
2: 89,023,617 (GRCm39) |
I254L |
probably benign |
Het |
Or4c29 |
C |
T |
2: 88,739,810 (GRCm39) |
R309Q |
probably benign |
Het |
Parp3 |
A |
T |
9: 106,351,922 (GRCm39) |
I150K |
probably damaging |
Het |
Pnp |
A |
G |
14: 51,185,443 (GRCm39) |
D49G |
probably benign |
Het |
Prkcq |
T |
C |
2: 11,251,781 (GRCm39) |
I206T |
probably damaging |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rlf |
A |
G |
4: 121,007,729 (GRCm39) |
L417P |
probably benign |
Het |
Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
Het |
Sgce |
T |
A |
6: 4,730,008 (GRCm39) |
D72V |
probably benign |
Het |
Sh3d21 |
A |
G |
4: 126,056,625 (GRCm39) |
S66P |
probably benign |
Het |
Sost |
C |
G |
11: 101,854,865 (GRCm39) |
G148A |
probably damaging |
Het |
Sybu |
T |
C |
15: 44,609,854 (GRCm39) |
E138G |
probably damaging |
Het |
Tas1r2 |
A |
G |
4: 139,396,886 (GRCm39) |
T742A |
probably damaging |
Het |
Tet3 |
A |
G |
6: 83,380,401 (GRCm39) |
V589A |
probably damaging |
Het |
Tnxb |
C |
A |
17: 34,891,605 (GRCm39) |
C649* |
probably null |
Het |
Tnxb |
A |
G |
17: 34,922,561 (GRCm39) |
Y2458C |
probably damaging |
Het |
Tsku |
T |
C |
7: 98,001,746 (GRCm39) |
N195S |
probably damaging |
Het |
Vmn1r215 |
T |
A |
13: 23,260,378 (GRCm39) |
N139K |
probably damaging |
Het |
Zfp106 |
T |
C |
2: 120,357,544 (GRCm39) |
H1117R |
probably benign |
Het |
Zfp26 |
A |
G |
9: 20,352,756 (GRCm39) |
|
probably benign |
Het |
Zfp764l1 |
T |
C |
7: 126,990,914 (GRCm39) |
T358A |
possibly damaging |
Het |
Zfp804b |
T |
A |
5: 7,230,625 (GRCm39) |
|
probably benign |
Het |
Zfr |
T |
C |
15: 12,153,006 (GRCm39) |
S546P |
probably benign |
Het |
|
Other mutations in Cyp2c66 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01145:Cyp2c66
|
APN |
19 |
39,159,405 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01589:Cyp2c66
|
APN |
19 |
39,172,379 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02098:Cyp2c66
|
APN |
19 |
39,159,473 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02114:Cyp2c66
|
APN |
19 |
39,159,519 (GRCm39) |
splice site |
probably benign |
|
IGL02567:Cyp2c66
|
APN |
19 |
39,175,084 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03181:Cyp2c66
|
APN |
19 |
39,130,483 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03230:Cyp2c66
|
APN |
19 |
39,172,302 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0007:Cyp2c66
|
UTSW |
19 |
39,159,402 (GRCm39) |
nonsense |
probably null |
|
R0092:Cyp2c66
|
UTSW |
19 |
39,172,224 (GRCm39) |
splice site |
probably benign |
|
R0242:Cyp2c66
|
UTSW |
19 |
39,130,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R0242:Cyp2c66
|
UTSW |
19 |
39,130,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R0324:Cyp2c66
|
UTSW |
19 |
39,165,135 (GRCm39) |
missense |
probably benign |
0.27 |
R0675:Cyp2c66
|
UTSW |
19 |
39,175,060 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1127:Cyp2c66
|
UTSW |
19 |
39,151,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R1871:Cyp2c66
|
UTSW |
19 |
39,151,858 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3404:Cyp2c66
|
UTSW |
19 |
39,151,771 (GRCm39) |
missense |
probably benign |
|
R3896:Cyp2c66
|
UTSW |
19 |
39,130,722 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4115:Cyp2c66
|
UTSW |
19 |
39,165,003 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4116:Cyp2c66
|
UTSW |
19 |
39,165,003 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4667:Cyp2c66
|
UTSW |
19 |
39,165,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R4668:Cyp2c66
|
UTSW |
19 |
39,165,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R4711:Cyp2c66
|
UTSW |
19 |
39,151,843 (GRCm39) |
missense |
possibly damaging |
0.74 |
R4960:Cyp2c66
|
UTSW |
19 |
39,151,766 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5070:Cyp2c66
|
UTSW |
19 |
39,151,914 (GRCm39) |
missense |
probably benign |
0.15 |
R5113:Cyp2c66
|
UTSW |
19 |
39,151,882 (GRCm39) |
missense |
probably benign |
0.00 |
R5125:Cyp2c66
|
UTSW |
19 |
39,159,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R5178:Cyp2c66
|
UTSW |
19 |
39,159,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R5588:Cyp2c66
|
UTSW |
19 |
39,151,858 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6011:Cyp2c66
|
UTSW |
19 |
39,130,380 (GRCm39) |
missense |
probably benign |
0.00 |
R6497:Cyp2c66
|
UTSW |
19 |
39,151,821 (GRCm39) |
missense |
probably damaging |
0.96 |
R6707:Cyp2c66
|
UTSW |
19 |
39,174,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R7173:Cyp2c66
|
UTSW |
19 |
39,159,401 (GRCm39) |
missense |
probably benign |
0.01 |
R7202:Cyp2c66
|
UTSW |
19 |
39,130,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R7469:Cyp2c66
|
UTSW |
19 |
39,172,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R7614:Cyp2c66
|
UTSW |
19 |
39,159,472 (GRCm39) |
missense |
probably damaging |
0.98 |
R7985:Cyp2c66
|
UTSW |
19 |
39,102,430 (GRCm39) |
missense |
probably null |
1.00 |
R8012:Cyp2c66
|
UTSW |
19 |
39,172,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R8056:Cyp2c66
|
UTSW |
19 |
39,130,485 (GRCm39) |
missense |
probably benign |
0.00 |
R8302:Cyp2c66
|
UTSW |
19 |
39,165,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R8329:Cyp2c66
|
UTSW |
19 |
39,174,906 (GRCm39) |
nonsense |
probably null |
|
R8365:Cyp2c66
|
UTSW |
19 |
39,165,048 (GRCm39) |
missense |
probably benign |
0.00 |
R8472:Cyp2c66
|
UTSW |
19 |
39,165,021 (GRCm39) |
missense |
probably benign |
0.03 |
R8502:Cyp2c66
|
UTSW |
19 |
39,130,773 (GRCm39) |
missense |
probably benign |
0.01 |
R8688:Cyp2c66
|
UTSW |
19 |
39,151,884 (GRCm39) |
missense |
probably benign |
0.00 |
R8715:Cyp2c66
|
UTSW |
19 |
39,159,388 (GRCm39) |
missense |
probably benign |
0.01 |
R9199:Cyp2c66
|
UTSW |
19 |
39,130,800 (GRCm39) |
missense |
probably benign |
0.16 |
R9551:Cyp2c66
|
UTSW |
19 |
39,172,246 (GRCm39) |
missense |
probably damaging |
0.99 |
R9552:Cyp2c66
|
UTSW |
19 |
39,172,246 (GRCm39) |
missense |
probably damaging |
0.99 |
R9601:Cyp2c66
|
UTSW |
19 |
39,175,054 (GRCm39) |
missense |
probably benign |
|
R9777:Cyp2c66
|
UTSW |
19 |
39,102,520 (GRCm39) |
missense |
probably benign |
0.15 |
Z1177:Cyp2c66
|
UTSW |
19 |
39,175,070 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAGACTTGCTTAAATTGTGACCAG -3'
(R):5'- AGTGAACAGTGTTCTAACAGCC -3'
Sequencing Primer
(F):5'- GTGACCAGTTTCTTTATCTGTTGAG -3'
(R):5'- AACAGTGTTCTAACAGCCTTCATTTC -3'
|
Posted On |
2015-02-18 |