Incidental Mutation 'R5039:Cyp2c55'
| ID |
395734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cyp2c55
|
| Ensembl Gene |
ENSMUSG00000025002 |
| Gene Name |
cytochrome P450, family 2, subfamily c, polypeptide 55 |
| Synonyms |
2010318C06Rik |
| MMRRC Submission |
042629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R5039 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
38995463-39031137 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39026587 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 398
(D398G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025966]
|
| AlphaFold |
Q9D816 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025966
AA Change: D398G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000025966
Gene: ENSMUSG00000025002
AA Change: D398G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
19 |
N/A |
INTRINSIC |
|
Pfam:p450
|
30 |
487 |
1.1e-154 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum but its specific substrate has not yet been determined. The gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. An additional gene, CYP2C17, was once thought to exist; however, CYP2C17 is now considered an artefact based on a chimera of CYP2C18 and CYP2C19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
G |
A |
9: 44,192,863 (GRCm39) |
A161V |
probably damaging |
Het |
| Anapc2 |
T |
C |
2: 25,164,808 (GRCm39) |
I64T |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,269,961 (GRCm39) |
D396G |
probably benign |
Het |
| Ark2c |
A |
G |
18: 77,550,608 (GRCm39) |
S107P |
probably damaging |
Het |
| Axl |
C |
T |
7: 25,485,340 (GRCm39) |
V163M |
probably damaging |
Het |
| Blm |
G |
A |
7: 80,155,621 (GRCm39) |
P353S |
possibly damaging |
Het |
| Btaf1 |
T |
C |
19: 36,968,162 (GRCm39) |
Y1116H |
probably benign |
Het |
| Ccdc18 |
T |
A |
5: 108,306,514 (GRCm39) |
|
probably null |
Het |
| Ccdc87 |
T |
C |
19: 4,890,429 (GRCm39) |
|
probably null |
Het |
| Cdhr1 |
T |
C |
14: 36,801,600 (GRCm39) |
N781S |
probably benign |
Het |
| Ctr9 |
C |
A |
7: 110,642,064 (GRCm39) |
H297Q |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dnmt3l |
T |
C |
10: 77,888,734 (GRCm39) |
|
probably null |
Het |
| Dock4 |
C |
A |
12: 40,867,745 (GRCm39) |
N1440K |
probably damaging |
Het |
| Etnk1 |
T |
A |
6: 143,141,043 (GRCm39) |
|
probably null |
Het |
| Fam120a |
A |
T |
13: 49,063,726 (GRCm39) |
|
probably null |
Het |
| Fanca |
T |
C |
8: 124,010,785 (GRCm39) |
D908G |
probably benign |
Het |
| Gm17535 |
T |
A |
9: 3,035,786 (GRCm39) |
L218H |
probably benign |
Het |
| Gm3633 |
A |
C |
14: 42,461,161 (GRCm39) |
N42K |
possibly damaging |
Het |
| Gm4781 |
C |
A |
10: 100,232,851 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8741 |
G |
T |
17: 35,555,062 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr139 |
A |
G |
7: 118,744,165 (GRCm39) |
V140A |
probably benign |
Het |
| Ighv1-62-3 |
G |
T |
12: 115,425,014 (GRCm39) |
T13K |
probably benign |
Het |
| Itgb2l |
T |
C |
16: 96,226,205 (GRCm39) |
T629A |
possibly damaging |
Het |
| Kcnb2 |
T |
C |
1: 15,779,724 (GRCm39) |
S199P |
probably damaging |
Het |
| Kdm1b |
G |
A |
13: 47,230,962 (GRCm39) |
G663D |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,052,888 (GRCm39) |
D407G |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,405,013 (GRCm39) |
K391R |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 104,013,107 (GRCm39) |
S127T |
probably damaging |
Het |
| Map2 |
A |
T |
1: 66,477,955 (GRCm39) |
D1759V |
probably damaging |
Het |
| Mllt6 |
G |
A |
11: 97,560,326 (GRCm39) |
S210N |
possibly damaging |
Het |
| Myrfl |
T |
C |
10: 116,658,616 (GRCm39) |
D447G |
probably damaging |
Het |
| Ndufb7 |
A |
G |
8: 84,298,094 (GRCm39) |
|
probably benign |
Het |
| Nt5e |
T |
A |
9: 88,245,634 (GRCm39) |
N301K |
probably benign |
Het |
| Or10d4b |
A |
T |
9: 39,534,856 (GRCm39) |
T146S |
possibly damaging |
Het |
| Or8g27 |
T |
A |
9: 39,129,410 (GRCm39) |
Y252* |
probably null |
Het |
| Pcdh10 |
A |
G |
3: 45,336,296 (GRCm39) |
N870S |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,709,305 (GRCm39) |
V670A |
probably benign |
Het |
| Phf8-ps |
A |
C |
17: 33,286,734 (GRCm39) |
C23G |
probably damaging |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Ric3 |
G |
C |
7: 108,637,930 (GRCm39) |
S274R |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,031,195 (GRCm39) |
T1540A |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,268,805 (GRCm39) |
M1464L |
probably benign |
Het |
| Slc41a3 |
A |
G |
6: 90,603,399 (GRCm39) |
Y140C |
probably damaging |
Het |
| Ssb |
A |
T |
2: 69,696,581 (GRCm39) |
E38D |
possibly damaging |
Het |
| Syt14 |
A |
T |
1: 192,709,292 (GRCm39) |
I16N |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,352,878 (GRCm39) |
T973A |
probably damaging |
Het |
| Tial1 |
T |
C |
7: 128,045,692 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf1a |
A |
G |
6: 125,337,675 (GRCm39) |
T89A |
possibly damaging |
Het |
| Trpv5 |
T |
C |
6: 41,652,879 (GRCm39) |
Y98C |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,062,267 (GRCm39) |
S265T |
probably damaging |
Het |
| Ylpm1 |
A |
G |
12: 85,089,013 (GRCm39) |
D1006G |
probably damaging |
Het |
|
| Other mutations in Cyp2c55 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:Cyp2c55
|
APN |
19 |
39,000,190 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL00537:Cyp2c55
|
APN |
19 |
39,000,150 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL00959:Cyp2c55
|
APN |
19 |
39,026,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01140:Cyp2c55
|
APN |
19 |
39,007,093 (GRCm39) |
missense |
probably benign |
|
|
IGL01792:Cyp2c55
|
APN |
19 |
39,030,631 (GRCm39) |
missense |
probably benign |
|
|
PIT4453001:Cyp2c55
|
UTSW |
19 |
39,000,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0472:Cyp2c55
|
UTSW |
19 |
39,019,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1452:Cyp2c55
|
UTSW |
19 |
38,999,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Cyp2c55
|
UTSW |
19 |
38,999,525 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1468:Cyp2c55
|
UTSW |
19 |
38,999,525 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1925:Cyp2c55
|
UTSW |
19 |
39,022,821 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2154:Cyp2c55
|
UTSW |
19 |
39,022,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3814:Cyp2c55
|
UTSW |
19 |
38,995,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4021:Cyp2c55
|
UTSW |
19 |
39,023,878 (GRCm39) |
splice site |
probably null |
|
|
R4022:Cyp2c55
|
UTSW |
19 |
39,023,878 (GRCm39) |
splice site |
probably null |
|
|
R4293:Cyp2c55
|
UTSW |
19 |
39,000,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4294:Cyp2c55
|
UTSW |
19 |
39,000,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Cyp2c55
|
UTSW |
19 |
39,019,830 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4740:Cyp2c55
|
UTSW |
19 |
39,007,173 (GRCm39) |
missense |
probably benign |
|
|
R4756:Cyp2c55
|
UTSW |
19 |
39,019,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4879:Cyp2c55
|
UTSW |
19 |
39,030,522 (GRCm39) |
frame shift |
probably null |
|
|
R5672:Cyp2c55
|
UTSW |
19 |
39,023,990 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5834:Cyp2c55
|
UTSW |
19 |
39,030,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6198:Cyp2c55
|
UTSW |
19 |
38,995,565 (GRCm39) |
nonsense |
probably null |
|
|
R6255:Cyp2c55
|
UTSW |
19 |
39,007,111 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6431:Cyp2c55
|
UTSW |
19 |
39,019,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6565:Cyp2c55
|
UTSW |
19 |
39,030,566 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7934:Cyp2c55
|
UTSW |
19 |
39,030,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8477:Cyp2c55
|
UTSW |
19 |
38,999,485 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8865:Cyp2c55
|
UTSW |
19 |
39,019,878 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8904:Cyp2c55
|
UTSW |
19 |
39,022,816 (GRCm39) |
missense |
|
|
|
R8960:Cyp2c55
|
UTSW |
19 |
38,995,547 (GRCm39) |
missense |
probably null |
1.00 |
|
R9012:Cyp2c55
|
UTSW |
19 |
39,030,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9037:Cyp2c55
|
UTSW |
19 |
39,030,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9047:Cyp2c55
|
UTSW |
19 |
39,019,790 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9164:Cyp2c55
|
UTSW |
19 |
38,995,571 (GRCm39) |
nonsense |
probably null |
|
|
X0062:Cyp2c55
|
UTSW |
19 |
39,007,133 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1176:Cyp2c55
|
UTSW |
19 |
39,023,957 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTGGTACTTGCCCATGGG -3'
(R):5'- CCTCAGAGTTGTATCTTGTGGAC -3'
Sequencing Primer
(F):5'- CCATGGGATGGGTCTCAAG -3'
(R):5'- ATATTGAGTTCAGGGTCAGCCTAGAC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation