Incidental Mutation 'R0008:Pcyt2'
| ID |
8011 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcyt2
|
| Ensembl Gene |
ENSMUSG00000025137 |
| Gene Name |
phosphate cytidylyltransferase 2, ethanolamine |
| Synonyms |
1110033E03Rik |
| MMRRC Submission |
038303-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0008 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
120500913-120508762 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120506695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 53
(I53N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026129]
[ENSMUST00000080202]
[ENSMUST00000106188]
[ENSMUST00000146809]
|
| AlphaFold |
Q922E4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026129
AA Change: I53N
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137
AA Change: I53N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_like
|
26 |
152 |
2.6e-32 |
PFAM |
|
Pfam:CTP_transf_like
|
235 |
384 |
8.9e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080202
|
| SMART Domains |
Protein: ENSMUSP00000079093
Gene: ENSMUSG00000025138
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
24 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
78 |
N/A |
INTRINSIC |
|
Pfam:SIR2
|
134 |
276 |
1.1e-22 |
PFAM |
|
low complexity region
|
393 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106187
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106188
AA Change: I53N
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137
AA Change: I53N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTP_transf_2
|
26 |
152 |
9.8e-25 |
PFAM |
|
Pfam:CTP_transf_2
|
217 |
332 |
2e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126148
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127882
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134671
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145356
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133625
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160059
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134255
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153532
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146809
|
| SMART Domains |
Protein: ENSMUSP00000120405
Gene: ENSMUSG00000025138
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2
|
1 |
89 |
1.6e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.9624 |
| Coding Region Coverage |
- 1x: 81.0%
- 3x: 72.4%
- 10x: 49.2%
- 20x: 28.4%
|
| Validation Efficiency |
90% (82/91) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele die during embryogenesis prior to embryo turning. Heterozygotes are fertile and display an alteration in hepatic fatty acid composition. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,882,346 (GRCm39) |
K118R |
possibly damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,889,976 (GRCm39) |
S87P |
probably benign |
Het |
| Ankrd27 |
A |
G |
7: 35,303,125 (GRCm39) |
K196R |
probably benign |
Het |
| Arrdc3 |
T |
A |
13: 81,039,194 (GRCm39) |
I75N |
probably damaging |
Het |
| Calcrl |
T |
C |
2: 84,203,618 (GRCm39) |
D54G |
probably benign |
Het |
| Cnot1 |
G |
T |
8: 96,487,969 (GRCm39) |
D562E |
probably damaging |
Het |
| Cp |
T |
A |
3: 20,022,287 (GRCm39) |
Y230N |
probably damaging |
Het |
| Dclre1c |
T |
C |
2: 3,439,032 (GRCm39) |
V64A |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,202,075 (GRCm39) |
L333H |
probably damaging |
Het |
| Hoxc11 |
T |
C |
15: 102,863,397 (GRCm39) |
V146A |
probably damaging |
Het |
| Il11 |
T |
C |
7: 4,776,658 (GRCm39) |
S111G |
probably benign |
Het |
| Ist1 |
A |
T |
8: 110,403,418 (GRCm39) |
I273K |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,346,895 (GRCm39) |
N784Y |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,462,716 (GRCm39) |
E648G |
probably damaging |
Het |
| Mtbp |
T |
A |
15: 55,449,889 (GRCm39) |
|
probably benign |
Het |
| Nat9 |
A |
T |
11: 115,075,941 (GRCm39) |
Y27N |
probably damaging |
Het |
| Nipsnap3b |
T |
A |
4: 53,015,112 (GRCm39) |
L53Q |
probably damaging |
Het |
| Nlrp3 |
A |
T |
11: 59,449,274 (GRCm39) |
H852L |
probably benign |
Het |
| Pax9 |
A |
G |
12: 56,756,528 (GRCm39) |
T289A |
probably benign |
Het |
| Pdzph1 |
T |
A |
17: 59,229,756 (GRCm39) |
|
probably benign |
Het |
| Plekhm2 |
C |
T |
4: 141,369,704 (GRCm39) |
|
probably benign |
Het |
| Ppt1 |
T |
C |
4: 122,742,216 (GRCm39) |
|
probably benign |
Het |
| Prep |
T |
C |
10: 44,991,174 (GRCm39) |
V280A |
probably benign |
Het |
| Proser3 |
G |
A |
7: 30,239,563 (GRCm39) |
R514C |
probably damaging |
Het |
| Rbm45 |
T |
C |
2: 76,208,742 (GRCm39) |
Y293H |
probably damaging |
Het |
| Sdk2 |
A |
G |
11: 113,747,581 (GRCm39) |
L643P |
probably damaging |
Het |
| Slc1a1 |
G |
A |
19: 28,878,884 (GRCm39) |
G208S |
probably benign |
Het |
| Slc35b4 |
A |
T |
6: 34,135,452 (GRCm39) |
Y287N |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,283,302 (GRCm39) |
T260A |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,064,301 (GRCm39) |
S415G |
possibly damaging |
Het |
| Tdp2 |
T |
G |
13: 25,025,333 (GRCm39) |
|
probably null |
Het |
| Tnrc6a |
G |
A |
7: 122,769,617 (GRCm39) |
R469H |
probably benign |
Het |
| Tox |
T |
A |
4: 6,842,411 (GRCm39) |
M40L |
probably benign |
Het |
| Trib2 |
A |
T |
12: 15,859,930 (GRCm39) |
H110Q |
probably benign |
Het |
| Trpa1 |
A |
G |
1: 14,973,439 (GRCm39) |
I293T |
possibly damaging |
Het |
| Wdr93 |
A |
G |
7: 79,408,221 (GRCm39) |
E234G |
probably damaging |
Het |
| Zfp385b |
A |
T |
2: 77,246,291 (GRCm39) |
S245R |
probably benign |
Het |
| Zfyve9 |
T |
A |
4: 108,575,902 (GRCm39) |
E393V |
possibly damaging |
Het |
|
| Other mutations in Pcyt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00914:Pcyt2
|
APN |
11 |
120,505,151 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02882:Pcyt2
|
APN |
11 |
120,502,233 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03336:Pcyt2
|
APN |
11 |
120,506,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03395:Pcyt2
|
APN |
11 |
120,503,876 (GRCm39) |
splice site |
probably null |
|
|
R0008:Pcyt2
|
UTSW |
11 |
120,506,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0739:Pcyt2
|
UTSW |
11 |
120,502,870 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1556:Pcyt2
|
UTSW |
11 |
120,502,911 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1703:Pcyt2
|
UTSW |
11 |
120,503,894 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1715:Pcyt2
|
UTSW |
11 |
120,506,677 (GRCm39) |
splice site |
probably null |
|
|
R1861:Pcyt2
|
UTSW |
11 |
120,501,968 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1888:Pcyt2
|
UTSW |
11 |
120,508,677 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R1888:Pcyt2
|
UTSW |
11 |
120,508,677 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4695:Pcyt2
|
UTSW |
11 |
120,502,000 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4812:Pcyt2
|
UTSW |
11 |
120,505,251 (GRCm39) |
unclassified |
probably benign |
|
|
R4909:Pcyt2
|
UTSW |
11 |
120,506,246 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5893:Pcyt2
|
UTSW |
11 |
120,508,623 (GRCm39) |
splice site |
probably null |
|
|
R6788:Pcyt2
|
UTSW |
11 |
120,505,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7439:Pcyt2
|
UTSW |
11 |
120,502,209 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8050:Pcyt2
|
UTSW |
11 |
120,501,765 (GRCm39) |
missense |
probably benign |
|
|
R8283:Pcyt2
|
UTSW |
11 |
120,501,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8378:Pcyt2
|
UTSW |
11 |
120,504,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9118:Pcyt2
|
UTSW |
11 |
120,503,899 (GRCm39) |
missense |
|
|
|
Z1176:Pcyt2
|
UTSW |
11 |
120,505,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-11-20 |
Incidental Mutation