Incidental Mutation 'R1715:Pcyt2'
ID |
190954 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcyt2
|
Ensembl Gene |
ENSMUSG00000025137 |
Gene Name |
phosphate cytidylyltransferase 2, ethanolamine |
Synonyms |
1110033E03Rik |
MMRRC Submission |
039748-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1715 (G1)
|
Quality Score |
157 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
120500913-120508762 bp(-) (GRCm39) |
Type of Mutation |
splice site (2569 bp from exon) |
DNA Base Change (assembly) |
T to A
at 120506677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120405
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026129]
[ENSMUST00000080202]
[ENSMUST00000106188]
[ENSMUST00000146809]
|
AlphaFold |
Q922E4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026129
AA Change: D59V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026129 Gene: ENSMUSG00000025137 AA Change: D59V
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: 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 |
probably damaging
Transcript: ENSMUST00000106188
AA Change: D59V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101794 Gene: ENSMUSG00000025137 AA Change: D59V
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: ENSMUST00000126723
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126148
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145356
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134255
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142049
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143502
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127882
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134671
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133625
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153532
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154714
|
Predicted Effect |
probably null
Transcript: ENSMUST00000146809
|
SMART Domains |
Protein: ENSMUSP00000120405 Gene: ENSMUSG00000025138
Domain | Start | End | E-Value | Type |
Pfam:SIR2
|
1 |
89 |
1.6e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160059
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
G |
A |
11: 109,982,406 (GRCm39) |
T12M |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,606,034 (GRCm39) |
Y2561* |
probably null |
Het |
Atp10a |
G |
A |
7: 58,436,253 (GRCm39) |
V348I |
probably damaging |
Het |
Best2 |
T |
C |
8: 85,737,852 (GRCm39) |
Y181C |
probably benign |
Het |
Btaf1 |
T |
A |
19: 36,946,521 (GRCm39) |
D442E |
probably damaging |
Het |
Carmil3 |
T |
G |
14: 55,741,989 (GRCm39) |
V1153G |
probably benign |
Het |
Cc2d2a |
A |
G |
5: 43,876,003 (GRCm39) |
I993M |
probably damaging |
Het |
Ccng1 |
G |
A |
11: 40,642,941 (GRCm39) |
P169S |
probably benign |
Het |
Cip2a |
C |
T |
16: 48,826,082 (GRCm39) |
T383I |
probably benign |
Het |
Cmtr2 |
T |
C |
8: 110,949,430 (GRCm39) |
L580P |
probably damaging |
Het |
Col22a1 |
T |
C |
15: 71,878,830 (GRCm39) |
E109G |
possibly damaging |
Het |
Cplane1 |
T |
A |
15: 8,256,384 (GRCm39) |
|
probably null |
Het |
Crispld2 |
G |
T |
8: 120,750,388 (GRCm39) |
W264L |
possibly damaging |
Het |
Cyp2c38 |
T |
C |
19: 39,393,239 (GRCm39) |
H276R |
probably benign |
Het |
Dag1 |
A |
T |
9: 108,085,914 (GRCm39) |
V409E |
possibly damaging |
Het |
Efcab15 |
T |
C |
11: 103,090,650 (GRCm39) |
|
probably null |
Het |
Emc8 |
T |
C |
8: 121,385,294 (GRCm39) |
N146S |
probably benign |
Het |
Glt8d1 |
T |
C |
14: 30,733,478 (GRCm39) |
V321A |
possibly damaging |
Het |
Gm5174 |
C |
T |
10: 86,492,776 (GRCm39) |
|
noncoding transcript |
Het |
Hdac10 |
G |
T |
15: 89,010,912 (GRCm39) |
|
probably null |
Het |
Hectd4 |
A |
G |
5: 121,482,881 (GRCm39) |
D3144G |
possibly damaging |
Het |
Ifna11 |
C |
T |
4: 88,738,473 (GRCm39) |
S93L |
probably damaging |
Het |
Il16 |
T |
C |
7: 83,297,936 (GRCm39) |
N431S |
probably benign |
Het |
Irf8 |
A |
T |
8: 121,481,127 (GRCm39) |
E237V |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 41,075,993 (GRCm39) |
Y1769H |
probably damaging |
Het |
Lrrc9 |
A |
G |
12: 72,524,073 (GRCm39) |
N761D |
probably damaging |
Het |
Mbtps1 |
T |
C |
8: 120,269,469 (GRCm39) |
Y207C |
probably benign |
Het |
Myo9a |
A |
G |
9: 59,739,583 (GRCm39) |
E765G |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,434,177 (GRCm39) |
D80G |
probably damaging |
Het |
Or12k8 |
G |
A |
2: 36,975,188 (GRCm39) |
P191S |
probably damaging |
Het |
Or2ag15 |
G |
C |
7: 106,340,755 (GRCm39) |
P129A |
probably damaging |
Het |
Or7g18 |
A |
T |
9: 18,787,090 (GRCm39) |
I156F |
probably benign |
Het |
Plxnd1 |
T |
C |
6: 115,945,642 (GRCm39) |
T944A |
probably benign |
Het |
Prss3b |
A |
G |
6: 41,009,870 (GRCm39) |
|
probably null |
Het |
Psd4 |
A |
T |
2: 24,295,344 (GRCm39) |
I833F |
probably damaging |
Het |
Psmd7 |
A |
G |
8: 108,307,817 (GRCm39) |
I222T |
probably benign |
Het |
Rap2b |
A |
G |
3: 61,272,611 (GRCm39) |
E45G |
probably damaging |
Het |
Rbm22 |
T |
C |
18: 60,693,916 (GRCm39) |
S7P |
possibly damaging |
Het |
Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
Rfx4 |
A |
G |
10: 84,680,144 (GRCm39) |
N107S |
probably damaging |
Het |
Ripk2 |
T |
A |
4: 16,155,192 (GRCm39) |
|
probably null |
Het |
Rpgrip1 |
T |
A |
14: 52,378,148 (GRCm39) |
C499S |
possibly damaging |
Het |
Scarf1 |
T |
C |
11: 75,414,870 (GRCm39) |
S515P |
probably damaging |
Het |
Sgip1 |
T |
C |
4: 102,772,256 (GRCm39) |
V215A |
probably benign |
Het |
Sis |
T |
C |
3: 72,796,343 (GRCm39) |
I1813V |
possibly damaging |
Het |
Slc17a3 |
A |
T |
13: 24,040,724 (GRCm39) |
T317S |
probably benign |
Het |
Slc35e1 |
T |
C |
8: 73,237,821 (GRCm39) |
N340S |
probably benign |
Het |
Smg6 |
A |
G |
11: 74,820,256 (GRCm39) |
I176V |
probably benign |
Het |
Smim17 |
T |
C |
7: 6,432,325 (GRCm39) |
L89S |
probably damaging |
Het |
Synm |
T |
C |
7: 67,386,051 (GRCm39) |
N95S |
probably damaging |
Het |
Tdrd9 |
A |
G |
12: 112,002,873 (GRCm39) |
K841E |
possibly damaging |
Het |
Tep1 |
G |
T |
14: 51,092,024 (GRCm39) |
F570L |
possibly damaging |
Het |
Tgm3 |
G |
A |
2: 129,868,734 (GRCm39) |
|
probably null |
Het |
Tra2b |
T |
C |
16: 22,071,496 (GRCm39) |
Y128C |
possibly damaging |
Het |
Vmn2r17 |
T |
C |
5: 109,576,110 (GRCm39) |
V327A |
probably benign |
Het |
Wdr20rt |
A |
T |
12: 65,274,088 (GRCm39) |
D344V |
probably damaging |
Het |
Zfp940 |
A |
G |
7: 29,544,363 (GRCm39) |
C515R |
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 |
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 |
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'- TCTGTTTCAAGAACCGGGGTAGGG -3'
(R):5'- GGTTAAGCATCTGCCAGTGAACAGC -3'
Sequencing Primer
(F):5'- AGCTGTCCTGTGTTGCCAC -3'
(R):5'- AGAACCGACTTCTCTGCTGTAAG -3'
|
Posted On |
2014-05-14 |