Incidental Mutation 'R6672:Cyp2c65'
ID |
527185 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c65
|
Ensembl Gene |
ENSMUSG00000067231 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 65 |
Synonyms |
2210009K14Rik |
MMRRC Submission |
044792-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R6672 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
39049459-39082388 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39076118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 357
(R357G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084489
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087236]
|
AlphaFold |
Q148B1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000087236
AA Change: R357G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084489 Gene: ENSMUSG00000067231 AA Change: R357G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
30 |
487 |
2.1e-160 |
PFAM |
|
Meta Mutation Damage Score |
0.9371 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
Validation Efficiency |
100% (31/31) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actmap |
C |
T |
7: 26,903,489 (GRCm39) |
|
probably benign |
Het |
Adam24 |
A |
G |
8: 41,134,572 (GRCm39) |
E680G |
probably benign |
Het |
Adam7 |
T |
A |
14: 68,742,151 (GRCm39) |
|
probably null |
Het |
Arid2 |
C |
T |
15: 96,260,226 (GRCm39) |
T351I |
probably benign |
Het |
Asz1 |
T |
A |
6: 18,075,817 (GRCm39) |
E252V |
possibly damaging |
Het |
Chrm5 |
C |
T |
2: 112,310,141 (GRCm39) |
C325Y |
probably benign |
Het |
Cimap1a |
A |
G |
7: 140,428,340 (GRCm39) |
S25G |
probably benign |
Het |
Dhx36 |
A |
G |
3: 62,402,957 (GRCm39) |
V265A |
probably damaging |
Het |
Dhx36 |
T |
A |
3: 62,408,300 (GRCm39) |
E179D |
probably benign |
Het |
Dip2c |
G |
A |
13: 9,617,866 (GRCm39) |
|
probably null |
Het |
Dock10 |
A |
T |
1: 80,490,248 (GRCm39) |
M1958K |
probably benign |
Het |
Dpf1 |
T |
C |
7: 29,015,693 (GRCm39) |
C357R |
probably damaging |
Het |
Dync1h1 |
C |
T |
12: 110,624,568 (GRCm39) |
R3703C |
probably damaging |
Het |
Eef1g |
A |
G |
19: 8,944,411 (GRCm39) |
|
probably null |
Het |
Gnl2 |
T |
C |
4: 124,942,186 (GRCm39) |
V397A |
probably damaging |
Het |
Gramd2b |
A |
G |
18: 56,565,408 (GRCm39) |
E21G |
possibly damaging |
Het |
Grik3 |
C |
A |
4: 125,517,309 (GRCm39) |
Q51K |
probably benign |
Het |
Hectd2 |
G |
T |
19: 36,564,780 (GRCm39) |
Q20H |
probably damaging |
Het |
Krtap5-1 |
A |
G |
7: 141,850,233 (GRCm39) |
C192R |
unknown |
Het |
Lrpap1 |
A |
T |
5: 35,256,577 (GRCm39) |
M135K |
probably benign |
Het |
Lrrc9 |
G |
A |
12: 72,520,710 (GRCm39) |
R664H |
possibly damaging |
Het |
Mef2c |
T |
G |
13: 83,800,975 (GRCm39) |
V225G |
probably damaging |
Het |
Nlrp9b |
T |
C |
7: 19,753,263 (GRCm39) |
L56P |
probably damaging |
Het |
Nup133 |
T |
C |
8: 124,643,020 (GRCm39) |
|
probably null |
Het |
Or12j4 |
G |
A |
7: 140,046,648 (GRCm39) |
C178Y |
probably damaging |
Het |
Or5ak23 |
T |
A |
2: 85,244,948 (GRCm39) |
I92L |
possibly damaging |
Het |
Ppp1r3d |
T |
C |
2: 178,055,552 (GRCm39) |
E150G |
possibly damaging |
Het |
Smpd1 |
A |
G |
7: 105,204,480 (GRCm39) |
M120V |
probably benign |
Het |
Zbtb46 |
A |
G |
2: 181,053,629 (GRCm39) |
L361P |
probably benign |
Het |
Zfp605 |
A |
G |
5: 110,275,863 (GRCm39) |
H327R |
probably damaging |
Het |
|
Other mutations in Cyp2c65 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01122:Cyp2c65
|
APN |
19 |
39,060,621 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01124:Cyp2c65
|
APN |
19 |
39,081,954 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01895:Cyp2c65
|
APN |
19 |
39,060,676 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02544:Cyp2c65
|
APN |
19 |
39,079,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R0172:Cyp2c65
|
UTSW |
19 |
39,076,100 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0378:Cyp2c65
|
UTSW |
19 |
39,061,662 (GRCm39) |
missense |
probably benign |
0.19 |
R0517:Cyp2c65
|
UTSW |
19 |
39,070,792 (GRCm39) |
splice site |
probably benign |
|
R0585:Cyp2c65
|
UTSW |
19 |
39,057,686 (GRCm39) |
missense |
probably benign |
0.00 |
R1770:Cyp2c65
|
UTSW |
19 |
39,070,642 (GRCm39) |
missense |
probably benign |
0.07 |
R2051:Cyp2c65
|
UTSW |
19 |
39,070,675 (GRCm39) |
missense |
probably benign |
0.12 |
R2310:Cyp2c65
|
UTSW |
19 |
39,081,826 (GRCm39) |
missense |
probably benign |
0.02 |
R2911:Cyp2c65
|
UTSW |
19 |
39,076,126 (GRCm39) |
missense |
probably damaging |
0.96 |
R4208:Cyp2c65
|
UTSW |
19 |
39,079,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R4258:Cyp2c65
|
UTSW |
19 |
39,081,872 (GRCm39) |
missense |
probably benign |
0.41 |
R4734:Cyp2c65
|
UTSW |
19 |
39,060,778 (GRCm39) |
missense |
probably benign |
0.00 |
R4821:Cyp2c65
|
UTSW |
19 |
39,060,635 (GRCm39) |
missense |
probably damaging |
1.00 |
R4926:Cyp2c65
|
UTSW |
19 |
39,049,597 (GRCm39) |
missense |
probably benign |
0.00 |
R5060:Cyp2c65
|
UTSW |
19 |
39,049,514 (GRCm39) |
missense |
unknown |
|
R5091:Cyp2c65
|
UTSW |
19 |
39,076,009 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5433:Cyp2c65
|
UTSW |
19 |
39,081,928 (GRCm39) |
missense |
probably benign |
0.00 |
R6051:Cyp2c65
|
UTSW |
19 |
39,049,610 (GRCm39) |
missense |
probably benign |
0.29 |
R6182:Cyp2c65
|
UTSW |
19 |
39,049,606 (GRCm39) |
missense |
probably benign |
0.18 |
R6400:Cyp2c65
|
UTSW |
19 |
39,049,558 (GRCm39) |
missense |
possibly damaging |
0.80 |
R6586:Cyp2c65
|
UTSW |
19 |
39,070,662 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6850:Cyp2c65
|
UTSW |
19 |
39,057,535 (GRCm39) |
missense |
probably benign |
0.15 |
R8075:Cyp2c65
|
UTSW |
19 |
39,060,682 (GRCm39) |
missense |
probably benign |
0.10 |
R8756:Cyp2c65
|
UTSW |
19 |
39,049,552 (GRCm39) |
nonsense |
probably null |
|
R9006:Cyp2c65
|
UTSW |
19 |
39,070,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R9031:Cyp2c65
|
UTSW |
19 |
39,061,663 (GRCm39) |
nonsense |
probably null |
|
R9231:Cyp2c65
|
UTSW |
19 |
39,060,661 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9663:Cyp2c65
|
UTSW |
19 |
39,079,070 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGCTTTCAGAATACTGCCAGGC -3'
(R):5'- CCTGGAATTGCAAGACTCAGTATC -3'
Sequencing Primer
(F):5'- TACAAGTGACCCCCGAGTTG -3'
(R):5'- GCAAGACTCAGTATCTTGGGC -3'
|
Posted On |
2018-07-23 |