Mutagenetix > Incidental Mutation

Incidental Mutation 'R7439:Pcyt2'

576842

Institutional Source

Beutler Lab

Gene Symbol

Pcyt2

Ensembl Gene

ENSMUSG00000025137

Gene Name

phosphate cytidylyltransferase 2, ethanolamine

Synonyms

1110033E03Rik

MMRRC Submission

045515-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120500913-120508762 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120502209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 308 (Y308N)

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

possibly damaging
Transcript: ENSMUST00000026129
AA Change: Y308N

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137
AA Change: Y308N

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

possibly damaging
Transcript: ENSMUST00000106188
AA Change: Y290N

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137
AA Change: Y290N

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: 100.0%
10x: 99.8%
20x: 99.4%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	C	4: 144,504,332 (GRCm39)	D273G	probably damaging	Het
Acacb	T	C	5: 114,333,703 (GRCm39)	V542A	possibly damaging	Het
Adprhl1	C	T	8: 13,273,069 (GRCm39)	V1230I	probably benign	Het
Agpat1	T	A	17: 34,829,883 (GRCm39)	Y77N	probably damaging	Het
Apc	T	A	18: 34,445,126 (GRCm39)	I674K	probably damaging	Het
Arpc5	T	C	1: 152,647,187 (GRCm39)	S97P	probably damaging	Het
Arrdc5	A	G	17: 56,604,931 (GRCm39)	F119L	probably benign	Het
Asap1	A	G	15: 64,002,105 (GRCm39)	V402A	probably damaging	Het
Aspg	T	C	12: 112,091,255 (GRCm39)	V479A	possibly damaging	Het
B3galnt2	G	A	13: 14,169,070 (GRCm39)	V368M	probably benign	Het
Bcl3	T	C	7: 19,556,536 (GRCm39)	T23A	probably benign	Het
Bpifb5	A	G	2: 154,070,853 (GRCm39)	K215E	possibly damaging	Het
Coa4	T	A	7: 100,188,478 (GRCm39)	C64S	probably damaging	Het
Dcun1d4	T	C	5: 73,648,879 (GRCm39)		probably null	Het
Dnaaf5	T	G	5: 139,151,868 (GRCm39)	C506W	probably damaging	Het
Dock3	A	G	9: 106,900,931 (GRCm39)	Y345H	probably damaging	Het
Dscaml1	A	G	9: 45,621,624 (GRCm39)	N1024S	possibly damaging	Het
Dsp	T	C	13: 38,360,478 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,379,425 (GRCm39)	T2057A	probably benign	Het
Dync1h1	T	G	12: 110,602,887 (GRCm39)	L2176R	probably damaging	Het
Eif5b	A	C	1: 38,090,718 (GRCm39)	D1192A	probably benign	Het
Epn2	A	T	11: 61,437,674 (GRCm39)		probably benign	Het
Exoc1	T	A	5: 76,693,195 (GRCm39)	N360K	probably benign	Het
Fam135b	A	T	15: 71,335,529 (GRCm39)	V555E	probably damaging	Het
Fmn1	A	T	2: 113,271,956 (GRCm39)	Q108L	unknown	Het
Gcc2	A	G	10: 58,092,723 (GRCm39)	T48A	probably benign	Het
Gm6619	T	G	6: 131,467,354 (GRCm39)	I73S	possibly damaging	Het
Gm8267	T	A	14: 44,960,397 (GRCm39)	D116V	probably damaging	Het
Hapln3	T	A	7: 78,767,017 (GRCm39)	T341S	probably benign	Het
Lamb3	C	A	1: 193,014,474 (GRCm39)	D544E	possibly damaging	Het
Lhx5	T	A	5: 120,578,349 (GRCm39)	S390T	probably benign	Het
Lrrc63	A	G	14: 75,363,697 (GRCm39)	S145P	possibly damaging	Het
Lrriq1	T	C	10: 103,050,380 (GRCm39)	M791V	probably benign	Het
Lyg2	A	G	1: 37,950,218 (GRCm39)	Y37H	possibly damaging	Het
Lyz3	G	A	10: 117,074,602 (GRCm39)		probably benign	Het
Nrbp1	T	A	5: 31,402,300 (GRCm39)	M172K	probably damaging	Het
Or2l13b	T	G	16: 19,349,650 (GRCm39)	S7R	probably benign	Het
Or4c126	A	G	2: 89,824,183 (GRCm39)	I149V	probably benign	Het
Or8u9	T	A	2: 86,001,354 (GRCm39)	D269V	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Phf21b	A	G	15: 84,689,104 (GRCm39)	S141P	probably damaging	Het
Pigh	G	A	12: 79,136,324 (GRCm39)	P24S	probably benign	Het
Plekhg3	A	G	12: 76,623,259 (GRCm39)	D834G	probably damaging	Het
Plekhg5	T	A	4: 152,198,392 (GRCm39)	V860D	probably benign	Het
Pon1	A	G	6: 5,177,399 (GRCm39)	I170T	probably damaging	Het
Ptpn9	T	A	9: 56,934,717 (GRCm39)	Y160*	probably null	Het
Ptprj	T	C	2: 90,280,163 (GRCm39)	K1045R	possibly damaging	Het
Rilpl2	T	A	5: 124,601,851 (GRCm39)	H196L	probably benign	Het
Rnf112	C	T	11: 61,341,854 (GRCm39)	V317I	possibly damaging	Het
Rundc3a	G	T	11: 102,290,872 (GRCm39)		probably null	Het
Sgsm1	T	C	5: 113,422,187 (GRCm39)	Y489C	probably damaging	Het
Sis	G	A	3: 72,816,374 (GRCm39)	H1531Y	possibly damaging	Het
Slc26a9	A	G	1: 131,690,556 (GRCm39)	Y520C	probably damaging	Het
Smc5	A	G	19: 23,220,064 (GRCm39)	V467A	probably damaging	Het
Spata20	G	A	11: 94,374,867 (GRCm39)	A245V	probably benign	Het
Steap3	A	C	1: 120,169,248 (GRCm39)	F350V	probably benign	Het
Sucnr1	A	G	3: 59,994,117 (GRCm39)	Q215R	probably benign	Het
Supv3l1	G	A	10: 62,266,394 (GRCm39)	A594V	probably damaging	Het
Swt1	A	T	1: 151,286,815 (GRCm39)	F226I	probably benign	Het
Taar7f	A	G	10: 23,925,885 (GRCm39)	T160A	possibly damaging	Het
Tada2a	A	T	11: 84,017,812 (GRCm39)		probably null	Het
Taok3	C	A	5: 117,388,974 (GRCm39)	Q460K	probably damaging	Het
Tasor	T	A	14: 27,193,602 (GRCm39)	V934E	probably damaging	Het
Twf2	A	G	9: 106,091,597 (GRCm39)	E268G	probably damaging	Het
Upf2	A	T	2: 6,023,743 (GRCm39)	I698F	unknown	Het
Vmn2r35	T	A	7: 7,820,013 (GRCm39)	N86Y	probably damaging	Het
Vmn2r84	T	C	10: 130,227,982 (GRCm39)	T85A	possibly damaging	Het
Vps13d	A	G	4: 144,832,426 (GRCm39)	S2833P		Het
Xrn1	T	C	9: 95,933,682 (GRCm39)	S1584P	probably benign	Het
Zfp354b	T	C	11: 50,813,224 (GRCm39)	Y567C	probably damaging	Het
Zfp52	A	T	17: 21,781,132 (GRCm39)	R327*	probably null	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
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'- GAGCAAGGTCAGGAGACTTC -3'
(R):5'- ACTGGGTGCAGTTTCTTTCC -3'

Sequencing Primer
(F):5'- GAGACTTCCTCAGAGTTGCTATGC -3'
(R):5'- CTGAAGGAGTCTGAGGGTCC -3'

Posted On

2019-10-07