Incidental Mutation 'R0739:Pcyt2'
ID |
70633 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcyt2
|
Ensembl Gene |
ENSMUSG00000025137 |
Gene Name |
phosphate cytidylyltransferase 2, ethanolamine |
Synonyms |
1110033E03Rik |
MMRRC Submission |
038920-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0739 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
120500913-120508762 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120502870 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 257
(L257P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026128]
[ENSMUST00000026129]
[ENSMUST00000061309]
[ENSMUST00000106188]
[ENSMUST00000106194]
[ENSMUST00000106195]
|
AlphaFold |
Q922E4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026128
|
SMART Domains |
Protein: ENSMUSP00000026128 Gene: ENSMUSG00000025135
Domain | Start | End | E-Value | Type |
RING
|
23 |
76 |
4.48e-1 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026129
AA Change: L257P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000026129 Gene: ENSMUSG00000025137 AA Change: L257P
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: 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 damaging
Transcript: ENSMUST00000106188
AA Change: L239P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000101794 Gene: ENSMUSG00000025137 AA Change: L239P
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 benign
Transcript: ENSMUST00000106194
|
SMART Domains |
Protein: ENSMUSP00000101800 Gene: ENSMUSG00000044034
Domain | Start | End | E-Value | Type |
Pfam:NPBW
|
2 |
115 |
5.2e-38 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143502
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142049
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145356
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124504
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126723
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124468
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126148
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160059
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134671
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106195
|
SMART Domains |
Protein: ENSMUSP00000101801 Gene: ENSMUSG00000044034
Domain | Start | End | E-Value | Type |
Pfam:NPBW
|
5 |
118 |
6.9e-48 |
PFAM |
|
Meta Mutation Damage Score |
0.8876 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
Validation Efficiency |
98% (48/49) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsl6 |
A |
G |
11: 54,227,961 (GRCm39) |
E327G |
probably damaging |
Het |
Adcy6 |
T |
C |
15: 98,496,260 (GRCm39) |
D593G |
probably benign |
Het |
Ankmy1 |
T |
C |
1: 92,816,370 (GRCm39) |
D248G |
probably damaging |
Het |
Atp2a1 |
T |
C |
7: 126,047,428 (GRCm39) |
I743V |
possibly damaging |
Het |
Axdnd1 |
T |
C |
1: 156,208,456 (GRCm39) |
N396D |
possibly damaging |
Het |
Cacna1e |
C |
T |
1: 154,318,024 (GRCm39) |
A1391T |
probably damaging |
Het |
Ccr8 |
G |
A |
9: 119,923,415 (GRCm39) |
G177S |
probably damaging |
Het |
Clmn |
C |
T |
12: 104,747,276 (GRCm39) |
G757D |
possibly damaging |
Het |
Cntn2 |
T |
A |
1: 132,456,750 (GRCm39) |
I99F |
probably damaging |
Het |
D6Ertd527e |
C |
G |
6: 87,088,650 (GRCm39) |
A271G |
unknown |
Het |
Dnah1 |
A |
T |
14: 30,987,872 (GRCm39) |
C3515* |
probably null |
Het |
Eif2d |
A |
G |
1: 131,082,100 (GRCm39) |
Y64C |
probably damaging |
Het |
Elovl4 |
A |
G |
9: 83,667,162 (GRCm39) |
F65S |
probably damaging |
Het |
F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,209,550 (GRCm39) |
E938G |
probably benign |
Het |
Foxn1 |
T |
C |
11: 78,249,825 (GRCm39) |
T567A |
probably benign |
Het |
Gabrr1 |
T |
C |
4: 33,162,781 (GRCm39) |
M449T |
probably benign |
Het |
Gdf2 |
C |
T |
14: 33,663,178 (GRCm39) |
P24L |
probably damaging |
Het |
Itgb3bp |
T |
C |
4: 99,690,433 (GRCm39) |
I29V |
probably benign |
Het |
Kcnk7 |
C |
T |
19: 5,754,830 (GRCm39) |
|
probably null |
Het |
Klf11 |
T |
C |
12: 24,710,247 (GRCm39) |
S432P |
probably damaging |
Het |
Neo1 |
C |
T |
9: 58,829,160 (GRCm39) |
A580T |
probably benign |
Het |
Nexmif |
G |
T |
X: 103,128,555 (GRCm39) |
Q1121K |
probably benign |
Het |
Or51aa5 |
T |
C |
7: 103,166,931 (GRCm39) |
Y220C |
probably damaging |
Het |
Or51f5 |
T |
C |
7: 102,423,872 (GRCm39) |
I47T |
probably damaging |
Het |
Or5p62 |
T |
C |
7: 107,771,217 (GRCm39) |
T245A |
probably benign |
Het |
Osgepl1 |
G |
T |
1: 53,362,354 (GRCm39) |
E399* |
probably null |
Het |
Parvg |
T |
A |
15: 84,215,222 (GRCm39) |
V197E |
probably damaging |
Het |
Pou3f2 |
T |
C |
4: 22,486,960 (GRCm39) |
D391G |
possibly damaging |
Het |
Psmd2 |
C |
T |
16: 20,474,079 (GRCm39) |
R261C |
probably benign |
Het |
Ptpn13 |
T |
C |
5: 103,722,998 (GRCm39) |
F1981L |
probably benign |
Het |
Rbp3 |
A |
T |
14: 33,680,604 (GRCm39) |
I1069F |
probably benign |
Het |
Rhbdf2 |
A |
T |
11: 116,490,987 (GRCm39) |
L655Q |
probably damaging |
Het |
Sec16a |
A |
T |
2: 26,331,063 (GRCm39) |
N317K |
possibly damaging |
Het |
Serpina3f |
T |
C |
12: 104,184,612 (GRCm39) |
V252A |
probably damaging |
Het |
Slc22a23 |
C |
T |
13: 34,528,366 (GRCm39) |
G139S |
possibly damaging |
Het |
Smyd2 |
T |
C |
1: 189,621,059 (GRCm39) |
T220A |
possibly damaging |
Het |
Snrpb2 |
T |
A |
2: 142,907,281 (GRCm39) |
|
probably benign |
Het |
Spopfm1 |
A |
G |
3: 94,173,102 (GRCm39) |
M37V |
probably benign |
Het |
Sptan1 |
A |
T |
2: 29,903,530 (GRCm39) |
I1502F |
probably damaging |
Het |
Srprb |
A |
T |
9: 103,074,794 (GRCm39) |
L116H |
probably damaging |
Het |
Stradb |
T |
A |
1: 59,016,174 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
C |
A |
2: 153,045,734 (GRCm39) |
F535L |
probably damaging |
Het |
Tmprss15 |
A |
T |
16: 78,821,736 (GRCm39) |
S440T |
possibly damaging |
Het |
Tpr |
C |
T |
1: 150,283,248 (GRCm39) |
A293V |
possibly damaging |
Het |
Usp34 |
C |
T |
11: 23,417,243 (GRCm39) |
T2964I |
possibly damaging |
Het |
Usp35 |
C |
A |
7: 96,960,874 (GRCm39) |
E851* |
probably null |
Het |
Zc3h14 |
T |
A |
12: 98,723,460 (GRCm39) |
V250D |
probably damaging |
Het |
Zfp568 |
T |
A |
7: 29,722,746 (GRCm39) |
C564S |
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 |
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 |
R0008:Pcyt2
|
UTSW |
11 |
120,506,695 (GRCm39) |
missense |
possibly damaging |
0.95 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTCAGTCCTTCAGAGGCCAC -3'
(R):5'- CCTTCACCAGGGAGAATGGCAC -3'
Sequencing Primer
(F):5'- CTTCAGAGGCCACCTGTG -3'
(R):5'- tggggatggagcacagg -3'
|
Posted On |
2013-09-30 |