Mutagenetix > Incidental Mutations

Incidental Mutation 'R1715:Pcyt2'

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1715 (G1)

Quality Score

157

Status

Not validated

Chromosome

Chromosomal Location

120610087-120617936 bp(-) (GRCm38)

Type of Mutation

splice site (2569 bp from exon)

DNA Base Change (assembly)

T to A at 120615851 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026129] [ENSMUST00000080202] [ENSMUST00000106188] [ENSMUST00000146809]

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: ENSMUST00000126148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143502

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

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
1700023F06Rik	T	C	11: 103,199,824		probably null	Het
2210010C04Rik	A	G	6: 41,032,936		probably null	Het
2410089E03Rik	T	A	15: 8,226,900		probably null	Het
Abca8a	G	A	11: 110,091,580	T12M	probably damaging	Het
Alms1	T	A	6: 85,629,052	Y2561*	probably null	Het
Atp10a	G	A	7: 58,786,505	V348I	probably damaging	Het
Best2	T	C	8: 85,011,223	Y181C	probably benign	Het
Btaf1	T	A	19: 36,969,121	D442E	probably damaging	Het
C330027C09Rik	C	T	16: 49,005,719	T383I	probably benign	Het
Carmil3	T	G	14: 55,504,532	V1153G	probably benign	Het
Cc2d2a	A	G	5: 43,718,661	I993M	probably damaging	Het
Ccng1	G	A	11: 40,752,114	P169S	probably benign	Het
Cmtr2	T	C	8: 110,222,798	L580P	probably damaging	Het
Col22a1	T	C	15: 72,006,981	E109G	possibly damaging	Het
Crispld2	G	T	8: 120,023,649	W264L	possibly damaging	Het
Cyp2c38	T	C	19: 39,404,795	H276R	probably benign	Het
Dag1	A	T	9: 108,208,715	V409E	possibly damaging	Het
Emc8	T	C	8: 120,658,555	N146S	probably benign	Het
Glt8d1	T	C	14: 31,011,521	V321A	possibly damaging	Het
Gm5174	C	T	10: 86,656,912		noncoding transcript	Het
Hdac10	G	T	15: 89,126,709		probably null	Het
Hectd4	A	G	5: 121,344,818	D3144G	possibly damaging	Het
Ifna11	C	T	4: 88,820,236	S93L	probably damaging	Het
Il16	T	C	7: 83,648,728	N431S	probably benign	Het
Irf8	A	T	8: 120,754,388	E237V	probably damaging	Het
Lrp1b	A	G	2: 41,185,981	Y1769H	probably damaging	Het
Lrrc9	A	G	12: 72,477,299	N761D	probably damaging	Het
Mbtps1	T	C	8: 119,542,730	Y207C	probably benign	Het
Myo9a	A	G	9: 59,832,300	E765G	probably damaging	Het
Nlrp3	A	G	11: 59,543,351	D80G	probably damaging	Het
Olfr361	G	A	2: 37,085,176	P191S	probably damaging	Het
Olfr697	G	C	7: 106,741,548	P129A	probably damaging	Het
Olfr830	A	T	9: 18,875,794	I156F	probably benign	Het
Plxnd1	T	C	6: 115,968,681	T944A	probably benign	Het
Psd4	A	T	2: 24,405,332	I833F	probably damaging	Het
Psmd7	A	G	8: 107,581,185	I222T	probably benign	Het
Rap2b	A	G	3: 61,365,190	E45G	probably damaging	Het
Rbm22	T	C	18: 60,560,844	S7P	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,651,666		probably benign	Het
Rfx4	A	G	10: 84,844,280	N107S	probably damaging	Het
Ripk2	T	A	4: 16,155,192		probably null	Het
Rpgrip1	T	A	14: 52,140,691	C499S	possibly damaging	Het
Scarf1	T	C	11: 75,524,044	S515P	probably damaging	Het
Sgip1	T	C	4: 102,915,059	V215A	probably benign	Het
Sis	T	C	3: 72,889,010	I1813V	possibly damaging	Het
Slc17a3	A	T	13: 23,856,741	T317S	probably benign	Het
Slc35e1	T	C	8: 72,483,977	N340S	probably benign	Het
Smg6	A	G	11: 74,929,430	I176V	probably benign	Het
Smim17	T	C	7: 6,429,326	L89S	probably damaging	Het
Synm	T	C	7: 67,736,303	N95S	probably damaging	Het
Tdrd9	A	G	12: 112,036,439	K841E	possibly damaging	Het
Tep1	G	T	14: 50,854,567	F570L	possibly damaging	Het
Tgm3	G	A	2: 130,026,814		probably null	Het
Tra2b	T	C	16: 22,252,746	Y128C	possibly damaging	Het
Vmn2r17	T	C	5: 109,428,244	V327A	probably benign	Het
Wdr20rt	A	T	12: 65,227,314	D344V	probably damaging	Het
Zfp940	A	G	7: 29,844,938	C515R	probably damaging	Het

Other mutations in Pcyt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00914:Pcyt2	APN	11	120614325	unclassified	probably benign
IGL02882:Pcyt2	APN	11	120611407	missense	possibly damaging	0.95
IGL03336:Pcyt2	APN	11	120615932	missense	probably damaging	1.00
IGL03395:Pcyt2	APN	11	120613050	splice site	probably null
R0008:Pcyt2	UTSW	11	120615869	missense	possibly damaging	0.95
R0008:Pcyt2	UTSW	11	120615869	missense	possibly damaging	0.95
R0739:Pcyt2	UTSW	11	120612044	missense	probably damaging	0.99
R1556:Pcyt2	UTSW	11	120612085	critical splice acceptor site	probably null
R1703:Pcyt2	UTSW	11	120613068	missense	probably benign	0.31
R1861:Pcyt2	UTSW	11	120611142	missense	probably benign	0.03
R1888:Pcyt2	UTSW	11	120617851	start codon destroyed	probably null	1.00
R1888:Pcyt2	UTSW	11	120617851	start codon destroyed	probably null	1.00
R4695:Pcyt2	UTSW	11	120611174	missense	probably benign	0.03
R4812:Pcyt2	UTSW	11	120614425	unclassified	probably benign
R4909:Pcyt2	UTSW	11	120615420	missense	probably benign	0.10
R5893:Pcyt2	UTSW	11	120617797	splice site	probably null
R6788:Pcyt2	UTSW	11	120614374	missense	probably damaging	1.00
R7439:Pcyt2	UTSW	11	120611383	missense	possibly damaging	0.94
R8050:Pcyt2	UTSW	11	120610939	missense	probably benign
R8283:Pcyt2	UTSW	11	120610722	missense	probably benign	0.00
R8378:Pcyt2	UTSW	11	120613408	missense	probably benign	0.00
Z1176:Pcyt2	UTSW	11	120614373	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