Incidental Mutation 'IGL03395:Pcyt2'
| ID |
421233 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pcyt2
|
| Ensembl Gene |
ENSMUSG00000025137 |
| Gene Name |
phosphate cytidylyltransferase 2, ethanolamine |
| Synonyms |
1110033E03Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03395
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
120500913-120508762 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3957 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 120503876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101801
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026128]
[ENSMUST00000026129]
[ENSMUST00000061309]
[ENSMUST00000106188]
[ENSMUST00000106194]
[ENSMUST00000106195]
|
| AlphaFold |
Q922E4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000026128
|
| SMART Domains |
Protein: ENSMUSP00000026128
Gene: ENSMUSG00000025135
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
23 |
76 |
4.48e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026129
AA Change: S191T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137
AA Change: S191T
| 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 null
Transcript: ENSMUST00000061309
|
| SMART Domains |
Protein: ENSMUSP00000050092
Gene: ENSMUSG00000044034
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPBW
|
2 |
107 |
1.3e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106187
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106188
|
| SMART Domains |
Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137
| 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 |
probably null
Transcript: ENSMUST00000106194
|
| SMART Domains |
Protein: ENSMUSP00000101800
Gene: ENSMUSG00000044034
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPBW
|
2 |
115 |
5.2e-38 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106195
|
| SMART Domains |
Protein: ENSMUSP00000101801
Gene: ENSMUSG00000044034
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPBW
|
5 |
118 |
6.9e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160059
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134671
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126148
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145356
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124504
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam11 |
A |
G |
11: 102,663,746 (GRCm39) |
D308G |
probably damaging |
Het |
| Adgrg3 |
A |
T |
8: 95,761,701 (GRCm39) |
I155F |
probably damaging |
Het |
| Ado |
T |
C |
10: 67,384,368 (GRCm39) |
Y79C |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,107,884 (GRCm39) |
|
probably benign |
Het |
| Bicd2 |
T |
A |
13: 49,528,734 (GRCm39) |
D165E |
probably damaging |
Het |
| Ccdc124 |
A |
C |
8: 71,321,251 (GRCm39) |
M163R |
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,479,304 (GRCm39) |
|
probably benign |
Het |
| Cenpq |
A |
G |
17: 41,234,449 (GRCm39) |
L247P |
probably damaging |
Het |
| Crat |
A |
G |
2: 30,294,978 (GRCm39) |
V479A |
probably benign |
Het |
| Egfr |
T |
C |
11: 16,860,261 (GRCm39) |
|
probably benign |
Het |
| Elapor2 |
A |
T |
5: 9,472,359 (GRCm39) |
Q352L |
probably damaging |
Het |
| Emc9 |
C |
T |
14: 55,822,197 (GRCm39) |
A72T |
probably benign |
Het |
| Fbxo5 |
G |
A |
10: 5,751,935 (GRCm39) |
S226F |
probably benign |
Het |
| Gm42688 |
A |
C |
6: 83,085,352 (GRCm39) |
E737D |
possibly damaging |
Het |
| Got1l1 |
G |
T |
8: 27,690,885 (GRCm39) |
H54Q |
probably benign |
Het |
| Grid2 |
G |
A |
6: 63,886,053 (GRCm39) |
V150I |
possibly damaging |
Het |
| Klc4 |
C |
T |
17: 46,943,789 (GRCm39) |
V506M |
probably damaging |
Het |
| Lrrc8c |
A |
G |
5: 105,754,495 (GRCm39) |
N90S |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,681,617 (GRCm39) |
|
probably null |
Het |
| Mbd6 |
G |
A |
10: 127,119,286 (GRCm39) |
R950C |
probably damaging |
Het |
| Nol11 |
A |
G |
11: 107,066,548 (GRCm39) |
V414A |
probably benign |
Het |
| Or7e178 |
A |
T |
9: 20,225,847 (GRCm39) |
M123K |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,272,325 (GRCm39) |
E177G |
possibly damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,614,262 (GRCm39) |
D396E |
probably benign |
Het |
| Pds5a |
T |
C |
5: 65,809,792 (GRCm39) |
D390G |
possibly damaging |
Het |
| Pik3r2 |
T |
C |
8: 71,224,999 (GRCm39) |
T155A |
probably benign |
Het |
| Rab31 |
T |
A |
17: 66,003,362 (GRCm39) |
H95L |
probably benign |
Het |
| Rfx5 |
C |
T |
3: 94,865,113 (GRCm39) |
R259* |
probably null |
Het |
| Slc6a17 |
T |
C |
3: 107,384,622 (GRCm39) |
D285G |
probably damaging |
Het |
| Spats2l |
A |
T |
1: 57,977,175 (GRCm39) |
I318F |
probably damaging |
Het |
| Spef1l |
G |
T |
7: 139,556,589 (GRCm39) |
|
probably benign |
Het |
| Tcf12 |
A |
G |
9: 71,783,304 (GRCm39) |
S361P |
probably 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 |
|
R0008:Pcyt2
|
UTSW |
11 |
120,506,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
2016-08-02 |
Incidental Mutation