Incidental Mutation 'R9118:Pcyt2'
ID |
692652 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcyt2
|
Ensembl Gene |
ENSMUSG00000025137 |
Gene Name |
phosphate cytidylyltransferase 2, ethanolamine |
Synonyms |
1110033E03Rik |
MMRRC Submission |
068921-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9118 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
120500913-120508762 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 120503899 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 183
(P183L)
|
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 |
|
SMART Domains |
Protein: ENSMUSP00000026129 Gene: ENSMUSG00000025137 AA Change: P183L
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 |
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 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 |
probably benign
Transcript: ENSMUST00000106195
|
SMART Domains |
Protein: ENSMUSP00000101801 Gene: ENSMUSG00000044034
Domain | Start | End | E-Value | Type |
Pfam:NPBW
|
5 |
118 |
6.9e-48 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
97% (31/32) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaa1b |
A |
T |
9: 118,985,957 (GRCm39) |
S36T |
probably benign |
Het |
Aifm2 |
C |
T |
10: 61,561,681 (GRCm39) |
T9I |
probably benign |
Het |
Ano5 |
T |
A |
7: 51,220,122 (GRCm39) |
F421I |
probably damaging |
Het |
Cacna1a |
G |
A |
8: 85,262,715 (GRCm39) |
V372M |
probably damaging |
Het |
Col6a5 |
A |
T |
9: 105,755,853 (GRCm39) |
|
probably benign |
Het |
Colgalt2 |
A |
G |
1: 152,378,906 (GRCm39) |
|
probably benign |
Het |
Crybg1 |
T |
C |
10: 43,879,925 (GRCm39) |
D421G |
possibly damaging |
Het |
Dgat1 |
A |
T |
15: 76,386,718 (GRCm39) |
W440R |
probably damaging |
Het |
Dnah5 |
TGTCCGACTACAACATCGAGACGGCCAAGCGCGTC |
TGTC |
15: 28,401,994 (GRCm39) |
|
probably null |
Het |
Dnai7 |
A |
G |
6: 145,120,900 (GRCm39) |
Y691H |
probably damaging |
Het |
Dnai7 |
A |
G |
6: 145,120,971 (GRCm39) |
L667P |
probably damaging |
Het |
Eif4h |
C |
A |
5: 134,656,481 (GRCm39) |
V70L |
probably benign |
Het |
Gabrd |
C |
A |
4: 155,470,475 (GRCm39) |
V326L |
possibly damaging |
Het |
Krt1c |
C |
T |
15: 101,722,976 (GRCm39) |
E341K |
probably damaging |
Het |
Lrp4 |
C |
T |
2: 91,308,927 (GRCm39) |
A538V |
possibly damaging |
Het |
Mfap3l |
G |
A |
8: 61,109,716 (GRCm39) |
V31M |
probably damaging |
Het |
Mroh2b |
T |
C |
15: 4,991,573 (GRCm39) |
I1557T |
possibly damaging |
Het |
Or2y16 |
A |
T |
11: 49,335,409 (GRCm39) |
I244F |
probably benign |
Het |
Or5an11 |
T |
C |
19: 12,246,263 (GRCm39) |
V223A |
probably benign |
Het |
Rapsn |
A |
G |
2: 90,875,378 (GRCm39) |
H387R |
probably damaging |
Het |
Scaf11 |
G |
A |
15: 96,319,886 (GRCm39) |
A259V |
probably benign |
Het |
Septin9 |
A |
G |
11: 117,157,398 (GRCm39) |
D11G |
probably benign |
Het |
Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
Slc7a2 |
T |
A |
8: 41,351,994 (GRCm39) |
I19N |
possibly damaging |
Het |
Synpr |
T |
C |
14: 13,608,673 (GRCm38) |
V171A |
probably damaging |
Het |
Tmed7 |
T |
C |
18: 46,726,338 (GRCm39) |
N139S |
probably benign |
Het |
Tnks1bp1 |
G |
T |
2: 84,893,720 (GRCm39) |
G1216W |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,386,839 (GRCm39) |
V2338E |
probably damaging |
Het |
Vmn1r152 |
A |
T |
7: 22,222,992 (GRCm39) |
I201F |
|
Het |
Vmn2r106 |
C |
A |
17: 20,505,667 (GRCm39) |
W9L |
probably benign |
Het |
Vmn2r9 |
A |
G |
5: 108,990,937 (GRCm39) |
V808A |
probably damaging |
Het |
Zfp646 |
A |
G |
7: 127,480,810 (GRCm39) |
T996A |
|
Het |
Zng1 |
T |
C |
19: 24,920,048 (GRCm39) |
R190G |
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 |
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 |
Z1176:Pcyt2
|
UTSW |
11 |
120,505,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGTGGCCACAGAAGATAATGC -3'
(R):5'- AAAGGTTGGCCCAAAGCTTC -3'
Sequencing Primer
(F):5'- TGCAGTCAACACCAGCTCTG -3'
(R):5'- GTTGGCCCAAAGCTTCAGTGTC -3'
|
Posted On |
2021-12-30 |