Mutagenetix > Incidental Mutation

Incidental Mutation 'R1556:Pcyt2'

170289

Institutional Source

Beutler Lab

Gene Symbol

Pcyt2

Ensembl Gene

ENSMUSG00000025137

Gene Name

phosphate cytidylyltransferase 2, ethanolamine

Synonyms

1110033E03Rik

MMRRC Submission

039595-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1556 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120500913-120508762 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 120502911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101794 (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 null
Transcript: ENSMUST00000026129

SMART Domains

Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137

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 null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145356

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,203,477 (GRCm39)	S302P	probably damaging	Het
Anapc1	T	C	2: 128,466,819 (GRCm39)	T1626A	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Arid5a	T	A	1: 36,359,245 (GRCm39)	Y520*	probably null	Het
Aven	G	A	2: 112,461,230 (GRCm39)	M215I	probably damaging	Het
Cabyr	A	G	18: 12,877,837 (GRCm39)	D58G	probably damaging	Het
Ccdc146	A	G	5: 21,535,551 (GRCm39)	Y168H	probably damaging	Het
Ccnd2	A	T	6: 127,107,363 (GRCm39)	S269T	probably benign	Het
Cd68	T	A	11: 69,556,676 (GRCm39)	T44S	probably damaging	Het
Clstn2	A	T	9: 97,338,558 (GRCm39)	I867N	probably benign	Het
Cmss1	C	T	16: 57,136,560 (GRCm39)	R104H	probably benign	Het
Col6a6	A	G	9: 105,586,672 (GRCm39)	V1783A	possibly damaging	Het
Dach2	T	C	X: 112,208,214 (GRCm39)	S31P	probably benign	Het
Dpp8	T	A	9: 64,958,761 (GRCm39)	W279R	probably damaging	Het
Fras1	A	T	5: 96,890,921 (GRCm39)	I2817F	possibly damaging	Het
Gabrr3	G	A	16: 59,281,763 (GRCm39)	D373N	probably benign	Het
Gdf7	T	C	12: 8,351,698 (GRCm39)	N79S	unknown	Het
Gpam	A	G	19: 55,064,763 (GRCm39)	V647A	possibly damaging	Het
Gpatch1	T	C	7: 34,994,776 (GRCm39)	T497A	probably benign	Het
Grin2a	A	T	16: 9,525,579 (GRCm39)	F337L	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
H2-Aa	A	T	17: 34,503,390 (GRCm39)	V69D	possibly damaging	Het
H2-M10.5	T	C	17: 37,084,205 (GRCm39)	Y56H	probably damaging	Het
Kcnu1	G	A	8: 26,351,219 (GRCm39)		probably null	Het
Krt77	A	G	15: 101,769,713 (GRCm39)	S386P	probably damaging	Het
L3mbtl2	T	A	15: 81,566,203 (GRCm39)	M342K	probably benign	Het
Ldlrad1	A	G	4: 107,075,010 (GRCm39)	T186A	probably benign	Het
Lins1	C	A	7: 66,360,385 (GRCm39)	C168*	probably null	Het
Lrrtm3	G	A	10: 63,923,928 (GRCm39)	T413M	probably damaging	Het
Macf1	T	C	4: 123,348,813 (GRCm39)	D4038G	probably damaging	Het
Mark3	T	G	12: 111,594,275 (GRCm39)	N308K	probably damaging	Het
Mdga2	T	A	12: 66,597,367 (GRCm39)	Y709F	possibly damaging	Het
Mtus2	T	A	5: 148,014,198 (GRCm39)	S330R	probably benign	Het
Or1p1	T	A	11: 74,179,762 (GRCm39)	C97S	probably damaging	Het
Or4k15c	G	A	14: 50,321,916 (GRCm39)	A74V	possibly damaging	Het
Or51a24	T	A	7: 103,733,468 (GRCm39)	H273L	probably benign	Het
Or6c76	T	C	10: 129,612,242 (GRCm39)	V168A	probably benign	Het
Ovgp1	A	G	3: 105,894,068 (GRCm39)		probably benign	Het
P4ha2	A	G	11: 54,015,836 (GRCm39)	T408A	probably damaging	Het
Pcdh8	T	G	14: 80,007,843 (GRCm39)	D240A	probably damaging	Het
Pecr	T	A	1: 72,298,542 (GRCm39)	I293L	probably benign	Het
Pogk	A	G	1: 166,226,402 (GRCm39)	V583A	possibly damaging	Het
Prkg1	T	C	19: 30,602,143 (GRCm39)	K371R	probably benign	Het
Psmd2	T	A	16: 20,474,335 (GRCm39)	M297K	possibly damaging	Het
Rgs12	A	G	5: 35,196,626 (GRCm39)	R769G	possibly damaging	Het
Sgtb	T	A	13: 104,276,284 (GRCm39)	N237K	probably damaging	Het
Sh3bgrl2	T	C	9: 83,476,751 (GRCm39)	V91A	probably damaging	Het
Slc4a1ap	G	A	5: 31,691,554 (GRCm39)		probably null	Het
Slc4a7	T	C	14: 14,778,872 (GRCm38)	V940A	probably benign	Het
Tep1	T	C	14: 51,090,499 (GRCm39)	T740A	probably benign	Het
Tnk2	G	T	16: 32,489,737 (GRCm39)		probably null	Het
Trpv2	A	G	11: 62,483,059 (GRCm39)	Y450C	probably damaging	Het
Tut7	T	C	13: 59,948,054 (GRCm39)	T354A	probably benign	Het
Tvp23a	A	T	16: 10,264,862 (GRCm39)	D16E	probably damaging	Het
Twnk	T	C	19: 44,997,850 (GRCm39)	F460L	possibly damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Urb2	T	C	8: 124,757,356 (GRCm39)	L1021P	probably damaging	Het
Vps13c	T	C	9: 67,837,993 (GRCm39)	Y1848H	probably damaging	Het
Vwa8	T	G	14: 79,324,121 (GRCm39)	N1141K	probably benign	Het
Yipf3	A	G	17: 46,561,793 (GRCm39)	Y200C	probably damaging	Het
Zbtb38	A	G	9: 96,569,044 (GRCm39)	V680A	probably benign	Het
Znrf3	T	C	11: 5,231,347 (GRCm39)	E722G	probably benign	Het
Zzef1	T	A	11: 72,806,059 (GRCm39)	L2665H	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
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

2014-04-13