Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03336:Pcyt2'

417051

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcyt2

Ensembl Gene

ENSMUSG00000025137

Gene Name

phosphate cytidylyltransferase 2, ethanolamine

Synonyms

1110033E03Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03336

Quality Score

Status

Chromosome

Chromosomal Location

120500913-120508762 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120506758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 32 (D32G)

Ref Sequence

ENSEMBL: ENSMUSP00000101794 (fasta)

Gene Model

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

AlphaFold

Q922E4

Predicted Effect

probably damaging
Transcript: ENSMUST00000026129
AA Change: D32G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137
AA Change: D32G

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: 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: D32G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137
AA Change: D32G

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: ENSMUST00000153532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160059

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127882

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143502

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145356

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126723

Predicted Effect

probably benign
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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	A	G	15: 59,888,251 (GRCm39)	V63A	probably benign	Het
Ankrd11	A	G	8: 123,618,582 (GRCm39)	S1757P	probably benign	Het
Atp8a1	G	T	5: 67,887,150 (GRCm39)	Y629*	probably null	Het
Cenpf	T	C	1: 189,384,844 (GRCm39)	K2479E	probably damaging	Het
Clip1	G	T	5: 123,791,633 (GRCm39)	S179*	probably null	Het
Cmya5	A	G	13: 93,230,013 (GRCm39)	S1692P	possibly damaging	Het
Cyp17a1	T	C	19: 46,659,474 (GRCm39)	S119G	probably benign	Het
Fndc5	T	C	4: 129,033,711 (GRCm39)	F160L	probably benign	Het
Muc5b	T	C	7: 141,418,100 (GRCm39)	V3682A	probably damaging	Het
Myh8	G	T	11: 67,175,528 (GRCm39)	D328Y	probably damaging	Het
Or10a5	T	A	7: 106,635,542 (GRCm39)	M60K	probably damaging	Het
Or4c121	T	C	2: 89,024,241 (GRCm39)	T46A	probably benign	Het
Or51f1	C	T	7: 102,505,823 (GRCm39)	C222Y	probably benign	Het
Or51k2	T	C	7: 103,596,616 (GRCm39)	L281P	probably damaging	Het
Or6c203	T	C	10: 129,010,098 (GRCm39)	E264G	probably benign	Het
Paxbp1	T	C	16: 90,831,060 (GRCm39)	I439V	probably benign	Het
Pcdhb3	T	C	18: 37,436,014 (GRCm39)	V660A	possibly damaging	Het
Pdzph1	A	T	17: 59,281,229 (GRCm39)	V351D	probably benign	Het
Ribc2	C	T	15: 85,017,114 (GRCm39)	Q51*	probably null	Het
Scn2a	A	G	2: 65,519,088 (GRCm39)	E438G	probably damaging	Het
Slc18a3	T	C	14: 32,184,785 (GRCm39)		probably benign	Het
Slc5a1	G	A	5: 33,304,287 (GRCm39)	V296I	probably benign	Het
Slit3	A	T	11: 35,560,928 (GRCm39)	T958S	probably damaging	Het
Spag8	C	T	4: 43,652,114 (GRCm39)		probably benign	Het
Susd3	A	C	13: 49,392,258 (GRCm39)	S144R	probably benign	Het
Synpo2	T	C	3: 122,907,828 (GRCm39)	E496G	possibly damaging	Het
Tbcel	T	C	9: 42,350,427 (GRCm39)	T269A	probably benign	Het
Tmem156	A	G	5: 65,233,107 (GRCm39)	Y152H	probably benign	Het
Tmem247	A	G	17: 87,225,857 (GRCm39)	E99G	probably damaging	Het
Tuba3b	A	G	6: 145,565,450 (GRCm39)	D306G	possibly damaging	Het
Vps13c	T	A	9: 67,858,924 (GRCm39)	D2791E	possibly damaging	Het
Ypel4	A	G	2: 84,567,871 (GRCm39)	Y98C	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
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
R9118:Pcyt2	UTSW	11	120,503,899 (GRCm39)	missense
Z1176:Pcyt2	UTSW	11	120,505,199 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02