Incidental Mutation 'R6610:Cyp2c23'
ID |
525945 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cyp2c23
|
Ensembl Gene |
ENSMUSG00000025197 |
Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 23 |
Synonyms |
Cyp2c44 |
MMRRC Submission |
044733-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6610 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
43993461-44017647 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43995520 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 416
(F416L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148377
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026211]
[ENSMUST00000211830]
|
AlphaFold |
E9Q5K4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026211
AA Change: F416L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026211 Gene: ENSMUSG00000025197 AA Change: F416L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:p450
|
34 |
491 |
2.1e-152 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211830
AA Change: F416L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
Validation Efficiency |
100% (42/42) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trapped allele show reduced proliferative and tubulogenic responses in lung endothelial cells, decreased tumor angiogenesis and growth of induced tumors, and high potassium-induced hypertension with decreased urinary sodium excretion and increased plasma sodium levels. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB124611 |
A |
T |
9: 21,437,561 (GRCm39) |
M1L |
probably benign |
Het |
Adam26b |
T |
C |
8: 43,974,190 (GRCm39) |
K271E |
probably damaging |
Het |
Ankrd44 |
A |
G |
1: 54,694,246 (GRCm39) |
I914T |
probably benign |
Het |
Atp12a |
A |
G |
14: 56,612,013 (GRCm39) |
R396G |
probably damaging |
Het |
C2cd3 |
A |
G |
7: 100,104,505 (GRCm39) |
K2173E |
probably benign |
Het |
Cbx2 |
A |
G |
11: 118,915,036 (GRCm39) |
D51G |
probably damaging |
Het |
Ccdc33 |
T |
A |
9: 57,976,419 (GRCm39) |
T532S |
possibly damaging |
Het |
Ccnt1 |
T |
C |
15: 98,462,982 (GRCm39) |
I63M |
probably damaging |
Het |
Cdc20b |
C |
T |
13: 113,200,796 (GRCm39) |
T172I |
probably benign |
Het |
Cep20 |
TTGTG |
TTG |
16: 14,118,009 (GRCm39) |
|
probably null |
Het |
Ces2f |
T |
G |
8: 105,676,738 (GRCm39) |
|
probably null |
Het |
Cfh |
A |
T |
1: 140,029,486 (GRCm39) |
C597* |
probably null |
Het |
Cntnap2 |
A |
T |
6: 45,992,191 (GRCm39) |
T373S |
probably benign |
Het |
Cyb5r4 |
T |
G |
9: 86,941,470 (GRCm39) |
C64G |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Eif4e1b |
A |
G |
13: 54,932,128 (GRCm39) |
|
probably benign |
Het |
Elp1 |
A |
G |
4: 56,758,236 (GRCm39) |
V1227A |
probably benign |
Het |
Etl4 |
G |
A |
2: 20,718,180 (GRCm39) |
R256K |
probably damaging |
Het |
Fhad1 |
A |
G |
4: 141,643,707 (GRCm39) |
L1054P |
possibly damaging |
Het |
Grik1 |
A |
G |
16: 87,831,200 (GRCm39) |
I190T |
probably damaging |
Het |
Gsdmc2 |
T |
C |
15: 63,696,857 (GRCm39) |
N438S |
probably benign |
Het |
Igkv15-103 |
A |
T |
6: 68,414,617 (GRCm39) |
R19* |
probably null |
Het |
Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
Lhcgr |
A |
T |
17: 89,077,307 (GRCm39) |
I93K |
possibly damaging |
Het |
Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
Mymk |
G |
T |
2: 26,957,405 (GRCm39) |
S29R |
possibly damaging |
Het |
Nab2 |
A |
T |
10: 127,500,207 (GRCm39) |
I295N |
probably damaging |
Het |
Neu2 |
A |
T |
1: 87,524,407 (GRCm39) |
T131S |
probably benign |
Het |
Pdcd7 |
T |
A |
9: 65,261,965 (GRCm39) |
M129K |
possibly damaging |
Het |
Ptar1 |
A |
G |
19: 23,695,208 (GRCm39) |
H225R |
probably benign |
Het |
Pygb |
T |
A |
2: 150,665,886 (GRCm39) |
|
probably null |
Het |
Rpap3 |
T |
C |
15: 97,586,049 (GRCm39) |
D314G |
probably benign |
Het |
Scara3 |
A |
G |
14: 66,168,670 (GRCm39) |
S316P |
probably damaging |
Het |
Sec24a |
C |
T |
11: 51,587,483 (GRCm39) |
V1051I |
probably benign |
Het |
Setdb1 |
G |
T |
3: 95,235,888 (GRCm39) |
A841D |
probably damaging |
Het |
Stk32b |
G |
A |
5: 37,606,022 (GRCm39) |
T407I |
probably benign |
Het |
Tcte2 |
G |
A |
17: 13,948,250 (GRCm39) |
Q10* |
probably null |
Het |
Tgm2 |
C |
A |
2: 157,985,020 (GRCm39) |
E29* |
probably null |
Het |
Trim32 |
G |
A |
4: 65,533,308 (GRCm39) |
V622M |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,579,673 (GRCm39) |
T23740M |
probably damaging |
Het |
Tyk2 |
G |
T |
9: 21,019,312 (GRCm39) |
Q1014K |
probably benign |
Het |
Vmn1r123 |
A |
G |
7: 20,896,515 (GRCm39) |
N136D |
probably benign |
Het |
Vmn2r31 |
A |
T |
7: 7,387,588 (GRCm39) |
V661E |
probably damaging |
Het |
Vmn2r85 |
A |
T |
10: 130,261,838 (GRCm39) |
F166L |
probably damaging |
Het |
Zfp426 |
T |
C |
9: 20,384,389 (GRCm39) |
K98R |
probably damaging |
Het |
Zfp534 |
C |
T |
4: 147,758,947 (GRCm39) |
R574K |
probably benign |
Het |
|
Other mutations in Cyp2c23 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01467:Cyp2c23
|
APN |
19 |
44,003,512 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01642:Cyp2c23
|
APN |
19 |
43,993,995 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01782:Cyp2c23
|
APN |
19 |
44,017,554 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL01843:Cyp2c23
|
APN |
19 |
43,994,046 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02902:Cyp2c23
|
APN |
19 |
44,009,997 (GRCm39) |
splice site |
probably benign |
|
IGL03382:Cyp2c23
|
APN |
19 |
44,003,371 (GRCm39) |
missense |
probably damaging |
0.99 |
R0196:Cyp2c23
|
UTSW |
19 |
44,000,795 (GRCm39) |
missense |
probably damaging |
0.98 |
R0735:Cyp2c23
|
UTSW |
19 |
44,005,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R1384:Cyp2c23
|
UTSW |
19 |
44,002,102 (GRCm39) |
missense |
probably damaging |
1.00 |
R1495:Cyp2c23
|
UTSW |
19 |
43,993,947 (GRCm39) |
missense |
probably benign |
0.07 |
R1809:Cyp2c23
|
UTSW |
19 |
44,009,997 (GRCm39) |
splice site |
probably benign |
|
R1872:Cyp2c23
|
UTSW |
19 |
43,993,990 (GRCm39) |
nonsense |
probably null |
|
R2866:Cyp2c23
|
UTSW |
19 |
43,993,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R3801:Cyp2c23
|
UTSW |
19 |
43,995,478 (GRCm39) |
missense |
probably benign |
0.11 |
R4234:Cyp2c23
|
UTSW |
19 |
44,017,604 (GRCm39) |
missense |
unknown |
|
R4748:Cyp2c23
|
UTSW |
19 |
44,005,176 (GRCm39) |
splice site |
probably null |
|
R4948:Cyp2c23
|
UTSW |
19 |
44,010,138 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5101:Cyp2c23
|
UTSW |
19 |
44,017,622 (GRCm39) |
missense |
unknown |
|
R5420:Cyp2c23
|
UTSW |
19 |
44,004,103 (GRCm39) |
critical splice donor site |
probably null |
|
R5770:Cyp2c23
|
UTSW |
19 |
44,010,018 (GRCm39) |
missense |
probably damaging |
0.99 |
R5993:Cyp2c23
|
UTSW |
19 |
44,000,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R6254:Cyp2c23
|
UTSW |
19 |
43,993,902 (GRCm39) |
missense |
probably benign |
0.03 |
R6269:Cyp2c23
|
UTSW |
19 |
44,017,626 (GRCm39) |
start codon destroyed |
unknown |
|
R7344:Cyp2c23
|
UTSW |
19 |
44,010,176 (GRCm39) |
splice site |
probably null |
|
R7603:Cyp2c23
|
UTSW |
19 |
44,003,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R8054:Cyp2c23
|
UTSW |
19 |
43,995,555 (GRCm39) |
missense |
probably damaging |
0.99 |
R8098:Cyp2c23
|
UTSW |
19 |
44,004,242 (GRCm39) |
missense |
probably benign |
0.29 |
R8157:Cyp2c23
|
UTSW |
19 |
44,010,066 (GRCm39) |
missense |
probably benign |
0.00 |
R8813:Cyp2c23
|
UTSW |
19 |
44,002,054 (GRCm39) |
missense |
probably benign |
0.07 |
R9497:Cyp2c23
|
UTSW |
19 |
44,010,085 (GRCm39) |
missense |
probably damaging |
0.99 |
X0065:Cyp2c23
|
UTSW |
19 |
44,017,610 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGAATGTCTCTAGCTAGACTTGGG -3'
(R):5'- TAGCAGCAGTAACCCGAGAC -3'
Sequencing Primer
(F):5'- CTTGGGAAGTTAGAACAGTTCGATC -3'
(R):5'- ACAGCCAGGGACTATGTGAGTATTTC -3'
|
Posted On |
2018-06-22 |