Incidental Mutation 'R3040:Cyp2c50'
| ID |
264933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c50
|
| Ensembl Gene |
ENSMUSG00000054827 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 50 |
| Synonyms |
|
| MMRRC Submission |
040556-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R3040 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
40078132-40102394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 40086570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 319
(N319S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068039
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068094]
[ENSMUST00000080171]
|
| AlphaFold |
Q91X77 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068094
AA Change: N319S
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000068039
Gene: ENSMUSG00000054827
AA Change: N319S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
225 |
3.7e-54 |
PFAM |
|
Pfam:p450
|
213 |
428 |
6.8e-88 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080171
AA Change: N378S
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000079065
Gene: ENSMUSG00000054827
AA Change: N378S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
1.2e-162 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl1 |
A |
C |
9: 14,484,069 (GRCm39) |
V498G |
probably benign |
Het |
| Ampd2 |
A |
G |
3: 107,983,732 (GRCm39) |
Y602H |
probably damaging |
Het |
| Bahd1 |
C |
T |
2: 118,746,887 (GRCm39) |
P169S |
probably damaging |
Het |
| Ccar1 |
G |
T |
10: 62,592,273 (GRCm39) |
H760N |
possibly damaging |
Het |
| Dcdc2c |
G |
C |
12: 28,602,181 (GRCm39) |
A41G |
probably damaging |
Het |
| Dzip3 |
G |
A |
16: 48,748,687 (GRCm39) |
S1083F |
probably damaging |
Het |
| Etfdh |
C |
T |
3: 79,512,226 (GRCm39) |
R498Q |
probably damaging |
Het |
| Fbn2 |
A |
T |
18: 58,226,459 (GRCm39) |
C772S |
probably damaging |
Het |
| Gask1b |
T |
A |
3: 79,794,432 (GRCm39) |
I300N |
possibly damaging |
Het |
| Gdap2 |
T |
C |
3: 100,095,351 (GRCm39) |
|
probably null |
Het |
| Iqcj |
T |
C |
3: 67,962,675 (GRCm39) |
S79P |
probably damaging |
Het |
| Isg20l2 |
T |
C |
3: 87,839,302 (GRCm39) |
V171A |
probably benign |
Het |
| Kcna7 |
GGCTGCGCGGTGCCGCCCGAGCGGCCGCTGC |
GGCTGC |
7: 45,056,212 (GRCm39) |
|
probably null |
Het |
| Luc7l |
A |
T |
17: 26,496,593 (GRCm39) |
|
probably benign |
Het |
| Mepe |
T |
G |
5: 104,485,988 (GRCm39) |
L376R |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Nedd4 |
T |
C |
9: 72,577,243 (GRCm39) |
F23L |
probably benign |
Het |
| Neurl1a |
T |
C |
19: 47,228,270 (GRCm39) |
S22P |
probably benign |
Het |
| Pramel51 |
A |
T |
12: 88,145,118 (GRCm39) |
S69R |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,476,317 (GRCm39) |
V470A |
probably benign |
Het |
| Pyroxd2 |
G |
T |
19: 42,723,957 (GRCm39) |
Q323K |
probably benign |
Het |
| Slf2 |
A |
G |
19: 44,969,008 (GRCm39) |
D1157G |
probably damaging |
Het |
| Styxl1 |
C |
T |
5: 135,785,887 (GRCm39) |
A197T |
probably damaging |
Het |
| Tmem70 |
C |
T |
1: 16,737,989 (GRCm39) |
T100M |
possibly damaging |
Het |
| Trip12 |
A |
G |
1: 84,719,966 (GRCm39) |
V309A |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Vmn1r122 |
G |
C |
7: 20,867,371 (GRCm39) |
P228R |
probably benign |
Het |
|
| Other mutations in Cyp2c50 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01286:Cyp2c50
|
APN |
19 |
40,080,728 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01463:Cyp2c50
|
APN |
19 |
40,079,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01669:Cyp2c50
|
APN |
19 |
40,086,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02008:Cyp2c50
|
APN |
19 |
40,079,543 (GRCm39) |
nonsense |
probably null |
|
|
IGL02331:Cyp2c50
|
APN |
19 |
40,079,387 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02830:Cyp2c50
|
APN |
19 |
40,086,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0115:Cyp2c50
|
UTSW |
19 |
40,080,837 (GRCm39) |
splice site |
probably benign |
|
|
R1666:Cyp2c50
|
UTSW |
19 |
40,079,499 (GRCm39) |
missense |
probably benign |
|
|
R1668:Cyp2c50
|
UTSW |
19 |
40,079,499 (GRCm39) |
missense |
probably benign |
|
|
R1679:Cyp2c50
|
UTSW |
19 |
40,099,859 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2425:Cyp2c50
|
UTSW |
19 |
40,078,292 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2509:Cyp2c50
|
UTSW |
19 |
40,079,013 (GRCm39) |
missense |
probably benign |
|
|
R2570:Cyp2c50
|
UTSW |
19 |
40,078,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3983:Cyp2c50
|
UTSW |
19 |
40,101,962 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4425:Cyp2c50
|
UTSW |
19 |
40,079,136 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4484:Cyp2c50
|
UTSW |
19 |
40,079,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4520:Cyp2c50
|
UTSW |
19 |
40,079,133 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4820:Cyp2c50
|
UTSW |
19 |
40,102,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4978:Cyp2c50
|
UTSW |
19 |
40,086,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5335:Cyp2c50
|
UTSW |
19 |
40,079,060 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5807:Cyp2c50
|
UTSW |
19 |
40,101,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5955:Cyp2c50
|
UTSW |
19 |
40,079,387 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6553:Cyp2c50
|
UTSW |
19 |
40,079,046 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6560:Cyp2c50
|
UTSW |
19 |
40,085,299 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7241:Cyp2c50
|
UTSW |
19 |
40,079,012 (GRCm39) |
missense |
probably benign |
|
|
R7389:Cyp2c50
|
UTSW |
19 |
40,079,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7511:Cyp2c50
|
UTSW |
19 |
40,080,634 (GRCm39) |
splice site |
probably null |
|
|
R9327:Cyp2c50
|
UTSW |
19 |
40,079,010 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9643:Cyp2c50
|
UTSW |
19 |
40,086,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF008:Cyp2c50
|
UTSW |
19 |
40,078,268 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1088:Cyp2c50
|
UTSW |
19 |
40,086,399 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCTAGATAGGCCTGCATTGTTG -3'
(R):5'- AACACTGCTATGTCCCTGC -3'
Sequencing Primer
(F):5'- CTGTGACCAATTAGCTAAAGTCCAGG -3'
(R):5'- TGCCTCCTGTAGAGCTGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation