Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02882:Pcyt2'

362838

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 #

IGL02882

Quality Score

Status

Chromosome

Chromosomal Location

120500913-120508762 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120502233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 300 (S300P)

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: S300P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137
AA Change: S300P

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

possibly damaging
Transcript: ENSMUST00000106188
AA Change: S282P

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137
AA Change: S282P

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: ENSMUST00000126723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124504

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: ENSMUST00000124468

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143502

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	T	9: 44,188,786 (GRCm39)	L469*	probably null	Het
Calr3	T	A	8: 73,188,665 (GRCm39)	Y46F	probably damaging	Het
Clcn4	A	G	7: 7,293,464 (GRCm39)	C491R	probably damaging	Het
Col6a5	G	T	9: 105,811,520 (GRCm39)	D666E	unknown	Het
D130052B06Rik	G	A	11: 33,573,780 (GRCm39)	V126M	probably damaging	Het
Ddx27	A	G	2: 166,869,833 (GRCm39)	I389M	possibly damaging	Het
Dgka	T	C	10: 128,569,253 (GRCm39)	I160V	possibly damaging	Het
Enpp6	T	C	8: 47,483,567 (GRCm39)	S120P	probably damaging	Het
Ezh1	A	G	11: 101,094,115 (GRCm39)	I459T	probably benign	Het
Fam91a1	A	G	15: 58,324,910 (GRCm39)		probably benign	Het
Foxn2	T	C	17: 88,770,375 (GRCm39)	L74P	probably damaging	Het
Fscn2	T	C	11: 120,253,325 (GRCm39)	V264A	probably benign	Het
Gmeb2	G	A	2: 180,907,676 (GRCm39)	T54I	probably damaging	Het
Hmcn2	A	T	2: 31,303,379 (GRCm39)	K3007*	probably null	Het
Ice1	A	T	13: 70,772,593 (GRCm39)		probably benign	Het
Lgi1	A	G	19: 38,272,453 (GRCm39)	D84G	probably benign	Het
Mier2	T	C	10: 79,383,555 (GRCm39)	I196V	probably damaging	Het
Nipal2	T	C	15: 34,600,223 (GRCm39)	Y198C	probably damaging	Het
Npas2	A	C	1: 39,352,077 (GRCm39)	S176R	probably benign	Het
Or8b50	A	T	9: 38,518,234 (GRCm39)	I158F	probably benign	Het
Pam	A	C	1: 97,768,092 (GRCm39)	C713G	probably damaging	Het
Pcdh17	C	A	14: 84,684,101 (GRCm39)	D189E	probably damaging	Het
Pcdhb8	T	A	18: 37,489,276 (GRCm39)	I318N	possibly damaging	Het
Pkdrej	A	G	15: 85,701,497 (GRCm39)	S1480P	probably damaging	Het
Plekhd1	G	A	12: 80,765,781 (GRCm39)		probably null	Het
Plxna2	A	T	1: 194,444,878 (GRCm39)	S757C	probably damaging	Het
Prkdc	A	T	16: 15,469,383 (GRCm39)	K163*	probably null	Het
Serpina3f	A	T	12: 104,183,263 (GRCm39)	T42S	probably damaging	Het
Sesn2	T	C	4: 132,221,104 (GRCm39)	N456D	probably benign	Het
Tas2r105	A	T	6: 131,664,143 (GRCm39)	L95Q	possibly damaging	Het
Tln1	A	G	4: 43,539,522 (GRCm39)	V1600A	probably benign	Het
Zfp764l1	A	G	7: 126,991,424 (GRCm39)	Y188H	probably damaging	Het
Zfp808	A	G	13: 62,320,994 (GRCm39)	K741R	probably benign	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
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
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

2015-12-18