Mutagenetix > Incidental Mutation

Incidental Mutation 'R4695:Pcyt2'

355646

Institutional Source

Beutler Lab

Gene Symbol

Pcyt2

Ensembl Gene

ENSMUSG00000025137

Gene Name

phosphate cytidylyltransferase 2, ethanolamine

Synonyms

1110033E03Rik

MMRRC Submission

042016-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4695 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120500913-120508762 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120502000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 321 (D321G)

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 benign
Transcript: ENSMUST00000026129
AA Change: D321G

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137
AA Change: D321G

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 benign
Transcript: ENSMUST00000106188
AA Change: D303G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137
AA Change: D303G

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: ENSMUST00000143502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124504

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134671

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	T	A	17: 33,750,713 (GRCm39)	M251K	possibly damaging	Het
Adcy2	A	T	13: 68,875,962 (GRCm39)	H513Q	possibly damaging	Het
Afg2a	T	G	3: 37,512,474 (GRCm39)	F713C	probably damaging	Het
Ahctf1	A	G	1: 179,580,619 (GRCm39)	L1861P	possibly damaging	Het
Apc2	C	A	10: 80,146,877 (GRCm39)	R615S	probably damaging	Het
Arhgap45	A	C	10: 79,861,364 (GRCm39)	D509A	probably damaging	Het
Atp6v1c2	T	C	12: 17,351,208 (GRCm39)	T108A	probably benign	Het
Blm	T	A	7: 80,143,976 (GRCm39)	D821V	probably damaging	Het
C3	T	A	17: 57,528,057 (GRCm39)	I721L	probably benign	Het
Ccdc13	A	T	9: 121,649,826 (GRCm39)	V207E	probably damaging	Het
Ccndbp1	C	T	2: 120,845,208 (GRCm39)		probably benign	Het
Cd180	A	C	13: 102,842,268 (GRCm39)	Q438P	probably benign	Het
Cd248	C	T	19: 5,118,473 (GRCm39)	T107M	probably damaging	Het
Cdan1	G	A	2: 120,558,864 (GRCm39)	R445C	probably damaging	Het
Cic	C	A	7: 24,973,013 (GRCm39)	H915N	possibly damaging	Het
Cox8c	T	C	12: 102,865,742 (GRCm39)	S40P	possibly damaging	Het
Cyp2d34	A	T	15: 82,501,092 (GRCm39)	C347S	probably benign	Het
Dhx30	A	T	9: 109,914,356 (GRCm39)	F974I	probably damaging	Het
Dlec1	A	T	9: 118,972,221 (GRCm39)	T1414S	probably benign	Het
Dlg2	C	A	7: 92,087,170 (GRCm39)		probably null	Het
Dynlt5	T	A	4: 102,861,426 (GRCm39)	I136K	probably damaging	Het
Dzip1l	T	A	9: 99,529,258 (GRCm39)	M329K	probably benign	Het
Dzip3	A	T	16: 48,771,924 (GRCm39)	L582I	probably damaging	Het
Emilin2	T	C	17: 71,559,773 (GRCm39)	Y1068C	probably damaging	Het
Fam221b	T	A	4: 43,659,622 (GRCm39)		probably null	Het
Fbxw22	A	G	9: 109,207,939 (GRCm39)	I444T	probably damaging	Het
Flnc	T	A	6: 29,440,428 (GRCm39)	N245K	probably damaging	Het
Fnip1	T	A	11: 54,390,245 (GRCm39)	I380N	probably damaging	Het
Gbf1	C	T	19: 46,247,606 (GRCm39)	R181*	probably null	Het
Igkv6-17	T	A	6: 70,348,486 (GRCm39)	F12I	probably benign	Het
Itln1	C	A	1: 171,358,645 (GRCm39)	G174V	probably damaging	Het
Lrrc52	A	G	1: 167,293,660 (GRCm39)		probably null	Het
LTO1	T	C	7: 144,482,715 (GRCm39)		probably null	Het
Matn2	A	G	15: 34,403,071 (GRCm39)	Y432C	probably damaging	Het
Metap1d	A	G	2: 71,355,305 (GRCm39)	*336W	probably null	Het
Mgam2-ps	T	A	6: 40,779,489 (GRCm39)		noncoding transcript	Het
Mrps9	T	A	1: 42,901,675 (GRCm39)	V61D	possibly damaging	Het
Myh7b	T	C	2: 155,456,097 (GRCm39)	Y161H	probably damaging	Het
Myh9	T	A	15: 77,653,053 (GRCm39)	D1428V	probably damaging	Het
N4bp3	A	T	11: 51,535,306 (GRCm39)		probably null	Het
Nat9	T	A	11: 115,075,416 (GRCm39)	Q75L	probably benign	Het
Nop2	T	C	6: 125,121,519 (GRCm39)	V767A	probably benign	Het
Ntrk2	A	G	13: 59,274,307 (GRCm39)	K728E	probably damaging	Het
Or51e1	T	G	7: 102,358,764 (GRCm39)	C99W	probably damaging	Het
Or5p72	G	A	7: 108,022,196 (GRCm39)	M139I	probably benign	Het
Or7g21	T	A	9: 19,032,306 (GRCm39)	H15Q	probably null	Het
Pcdhgb2	A	G	18: 37,825,375 (GRCm39)	T789A	probably benign	Het
Rad9a	G	A	19: 4,250,560 (GRCm39)	R85C	probably damaging	Het
Rbbp8	A	T	18: 11,854,839 (GRCm39)	K355*	probably null	Het
Rhag	T	C	17: 41,147,358 (GRCm39)	Y407H	probably damaging	Het
Robo4	G	A	9: 37,314,495 (GRCm39)	V161M	probably damaging	Het
Rpl27-ps3	C	A	18: 6,332,922 (GRCm39)	N97K	probably benign	Het
Slc45a4	A	G	15: 73,453,924 (GRCm39)	I691T	possibly damaging	Het
Slc9a9	A	T	9: 94,818,502 (GRCm39)		probably benign	Het
Stard13	A	G	5: 150,984,280 (GRCm39)	F619L	probably benign	Het
Stt3b	A	T	9: 115,083,862 (GRCm39)	V438E	probably damaging	Het
Tacr3	C	T	3: 134,535,182 (GRCm39)	T50I	probably benign	Het
Tacr3	G	T	3: 134,635,690 (GRCm39)	C298F	probably damaging	Het
Taok3	C	T	5: 117,366,131 (GRCm39)	T394M	probably benign	Het
Tgfb1i1	A	G	7: 127,848,348 (GRCm39)	D128G	probably damaging	Het
Tgfbr3l	G	T	8: 4,300,574 (GRCm39)	V251L	probably benign	Het
Tom1l2	C	G	11: 60,161,259 (GRCm39)	R84P	probably damaging	Het
Top3a	A	G	11: 60,633,238 (GRCm39)	S953P	probably benign	Het
Trappc10	T	C	10: 78,033,697 (GRCm39)	K957E	probably damaging	Het
Ttn	T	A	2: 76,565,668 (GRCm39)	E28228V	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vdr	A	T	15: 97,756,801 (GRCm39)		probably null	Het
Zfp42	A	T	8: 43,749,168 (GRCm39)	L111Q	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
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'- AAGATGCCTCTTCTCTTGGGC -3'
(R):5'- AGGCTTCGCTCAAAGTTCTCC -3'

Sequencing Primer
(F):5'- TCCTGGAGGCCTCAATGG -3'
(R):5'- GTTCTCCTGAGCAGAACATGATGC -3'

Posted On

2015-10-21