Incidental Mutation 'R9552:Cyp2c66'
ID |
720585 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c66
|
Ensembl Gene |
ENSMUSG00000067229 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 66 |
Synonyms |
2010301M18Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.148)
|
Stock # |
R9552 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
39102342-39175200 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 39172246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 387
(V387A)
|
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: V387A
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000084487 Gene: ENSMUSG00000067229 AA Change: V387A
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
Abhd6 |
T |
C |
14: 8,028,329 (GRCm38) |
I20T |
possibly damaging |
Het |
Adamts1 |
A |
G |
16: 85,599,505 (GRCm39) |
S32P |
probably benign |
Het |
Ak7 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
12: 105,676,448 (GRCm39) |
|
probably benign |
Het |
Arhgap21 |
A |
T |
2: 20,886,397 (GRCm39) |
V270E |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,916,064 (GRCm39) |
L1660Q |
probably benign |
Het |
Blvrb |
A |
G |
7: 27,158,786 (GRCm39) |
D62G |
probably benign |
Het |
Ccdc68 |
T |
A |
18: 70,089,113 (GRCm39) |
S219T |
probably damaging |
Het |
Cnbp |
A |
G |
6: 87,822,108 (GRCm39) |
Y139H |
probably damaging |
Het |
Csmd3 |
T |
A |
15: 48,655,356 (GRCm39) |
|
probably benign |
Het |
Cyp2j7 |
C |
T |
4: 96,115,840 (GRCm39) |
R202H |
probably damaging |
Het |
Edrf1 |
A |
G |
7: 133,240,742 (GRCm39) |
D73G |
probably damaging |
Het |
Ercc6 |
C |
T |
14: 32,284,525 (GRCm39) |
R763C |
probably damaging |
Het |
Gm8159 |
T |
A |
14: 15,850,264 (GRCm39) |
I161K |
probably damaging |
Het |
Gramd1c |
A |
T |
16: 43,807,294 (GRCm39) |
M356K |
probably damaging |
Het |
Has2 |
T |
C |
15: 56,531,090 (GRCm39) |
K542E |
probably benign |
Het |
Hipk3 |
T |
C |
2: 104,301,850 (GRCm39) |
N114S |
probably benign |
Het |
Hs3st6 |
T |
C |
17: 24,977,228 (GRCm39) |
L236P |
probably damaging |
Het |
Il15 |
T |
A |
8: 83,061,177 (GRCm39) |
H100L |
probably benign |
Het |
Kcnh5 |
T |
C |
12: 75,023,334 (GRCm39) |
Y578C |
probably benign |
Het |
Lctl |
A |
G |
9: 64,025,049 (GRCm39) |
I12V |
probably benign |
Het |
Mark2 |
G |
T |
19: 7,263,263 (GRCm39) |
T201N |
possibly damaging |
Het |
Mef2c |
A |
G |
13: 83,810,461 (GRCm39) |
N371S |
probably benign |
Het |
Mgst3 |
T |
C |
1: 167,205,871 (GRCm39) |
Y36C |
probably damaging |
Het |
Ndst1 |
G |
T |
18: 60,845,931 (GRCm39) |
T126K |
probably damaging |
Het |
Nid1 |
T |
A |
13: 13,677,045 (GRCm39) |
I995N |
probably damaging |
Het |
Nr2e1 |
A |
T |
10: 42,447,487 (GRCm39) |
M175K |
probably benign |
Het |
Nrxn1 |
T |
C |
17: 90,937,450 (GRCm39) |
K669R |
probably damaging |
Het |
Or5d14 |
C |
T |
2: 87,880,509 (GRCm39) |
W153* |
probably null |
Het |
Or6k4 |
A |
T |
1: 173,964,885 (GRCm39) |
T192S |
probably benign |
Het |
Pbx1 |
T |
C |
1: 168,258,910 (GRCm39) |
D55G |
possibly damaging |
Het |
Pck2 |
T |
A |
14: 55,780,081 (GRCm39) |
I110N |
probably damaging |
Het |
Pkn2 |
T |
C |
3: 142,499,594 (GRCm39) |
D977G |
probably damaging |
Het |
Pyroxd2 |
A |
G |
19: 42,719,756 (GRCm39) |
|
probably null |
Het |
Rapgef4 |
A |
G |
2: 72,008,561 (GRCm39) |
I246M |
probably benign |
Het |
Rnasel |
T |
A |
1: 153,630,673 (GRCm39) |
N396K |
possibly damaging |
Het |
Scaf1 |
A |
G |
7: 44,658,351 (GRCm39) |
L176P |
probably damaging |
Het |
Scgb1b12 |
C |
A |
7: 32,033,974 (GRCm39) |
A78E |
probably benign |
Het |
Scgb2b19 |
A |
G |
7: 32,979,198 (GRCm39) |
F28S |
probably damaging |
Het |
Skint5 |
C |
T |
4: 113,798,052 (GRCm39) |
C177Y |
possibly damaging |
Het |
Slitrk5 |
C |
T |
14: 111,916,496 (GRCm39) |
T40I |
probably benign |
Het |
Slu7 |
G |
A |
11: 43,329,095 (GRCm39) |
V106I |
probably benign |
Het |
Sorbs1 |
G |
A |
19: 40,361,923 (GRCm39) |
R154* |
probably null |
Het |
Stc2 |
A |
G |
11: 31,310,332 (GRCm39) |
S235P |
probably benign |
Het |
Stt3a |
T |
C |
9: 36,645,675 (GRCm39) |
D672G |
probably benign |
Het |
Tcerg1l |
T |
C |
7: 137,995,998 (GRCm39) |
D170G |
possibly damaging |
Het |
Tcf15 |
T |
C |
2: 151,986,039 (GRCm39) |
L165P |
probably damaging |
Het |
Tgm1 |
T |
C |
14: 55,950,933 (GRCm39) |
|
probably benign |
Het |
Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
Tmco4 |
G |
A |
4: 138,779,895 (GRCm39) |
V447M |
probably damaging |
Het |
Trf |
C |
T |
9: 103,099,283 (GRCm39) |
V339I |
probably benign |
Het |
Ucp1 |
T |
C |
8: 84,024,509 (GRCm39) |
L278P |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,717,282 (GRCm39) |
D2946G |
possibly damaging |
Het |
Vmn1r82 |
A |
G |
7: 12,039,600 (GRCm39) |
N291S |
possibly damaging |
Het |
Vmn1r86 |
A |
T |
7: 12,836,781 (GRCm39) |
Y32N |
possibly damaging |
Het |
Wdr49 |
T |
C |
3: 75,230,931 (GRCm39) |
D577G |
probably benign |
Het |
Wnt10b |
C |
A |
15: 98,670,713 (GRCm39) |
G272W |
probably damaging |
Het |
Yipf4 |
T |
C |
17: 74,806,024 (GRCm39) |
F221S |
probably damaging |
Het |
Zfp512 |
G |
A |
5: 31,623,676 (GRCm39) |
C14Y |
probably benign |
Het |
Zfp658 |
G |
T |
7: 43,222,567 (GRCm39) |
V281F |
probably benign |
Het |
Zfp827 |
T |
G |
8: 79,787,403 (GRCm39) |
W190G |
probably damaging |
Het |
Zpld2 |
G |
A |
4: 133,929,312 (GRCm39) |
P331L |
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 |
|
R3429:Cyp2c66
|
UTSW |
19 |
39,151,892 (GRCm39) |
missense |
probably damaging |
0.97 |
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 |
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'- GCTCTGGCTGTCCTGGAA -3'
(R):5'- GTACTGGAAACCTACTCAACTTCTCT -3'
Sequencing Primer
(F):5'- TGGAACTCACTTTGTAGACCAGC -3'
(R):5'- GAACATTTTGTGCACAGCTCCAG -3'
|
Posted On |
2022-08-09 |