Mutagenetix > Incidental Mutation

Incidental Mutation 'R8929:Cdipt'

679746

Institutional Source

Beutler Lab

Gene Symbol

Cdipt

Ensembl Gene

ENSMUSG00000030682

Gene Name

CDP-diacylglycerol--inositol 3-phosphatidyltransferase

Synonyms

9530042F15Rik, D7Bwg0575e

MMRRC Submission

068773-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8929 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126575630-126579671 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 126578825 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 205 (D205E)

Ref Sequence

ENSEMBL: ENSMUSP00000032920 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032920] [ENSMUST00000205437] [ENSMUST00000205830] [ENSMUST00000205903] [ENSMUST00000206170] [ENSMUST00000206296] [ENSMUST00000206346] [ENSMUST00000206450] [ENSMUST00000206780] [ENSMUST00000206794] [ENSMUST00000206816]

AlphaFold

Q8VDP6

Predicted Effect

probably damaging
Transcript: ENSMUST00000032920
AA Change: D205E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032920
Gene: ENSMUSG00000030682
AA Change: D205E

Domain	Start	End	E-Value	Type
Pfam:CDP-OH_P_transf	9	72	2.4e-16	PFAM
transmembrane domain	141	160	N/A	INTRINSIC
transmembrane domain	175	197	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205437

Predicted Effect

probably damaging
Transcript: ENSMUST00000205830
AA Change: D177E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000205903

Predicted Effect

probably benign
Transcript: ENSMUST00000206170

Predicted Effect

probably benign
Transcript: ENSMUST00000206296

Predicted Effect

probably benign
Transcript: ENSMUST00000206346

Predicted Effect

unknown
Transcript: ENSMUST00000206450
AA Change: M178R

Predicted Effect

probably benign
Transcript: ENSMUST00000206780

Predicted Effect

probably benign
Transcript: ENSMUST00000206794

Predicted Effect

probably benign
Transcript: ENSMUST00000206816

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol breakdown products are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	A	G	2: 179,814,730 (GRCm39)	K99E	unknown	Het
Agxt2	C	A	15: 10,393,830 (GRCm39)	L375I	probably benign	Het
Akap13	T	C	7: 75,258,752 (GRCm39)	S459P	probably benign	Het
Arfgef3	T	A	10: 18,479,203 (GRCm39)	T1471S	probably damaging	Het
Atxn2l	C	G	7: 126,092,928 (GRCm39)		probably benign	Het
Azi2	C	A	9: 117,879,044 (GRCm39)	T141K	probably damaging	Het
B4galt6	A	G	18: 20,821,422 (GRCm39)	S369P	possibly damaging	Het
BC051019	C	T	7: 109,315,233 (GRCm39)	E341K	probably damaging	Het
Bdh1	G	A	16: 31,275,712 (GRCm39)	D278N	probably benign	Het
Cdh1	ACTCGAAATGATGTGGCTC	ACTC	8: 107,392,870 (GRCm39)		probably benign	Het
Clec4b1	G	T	6: 123,046,728 (GRCm39)		probably null	Het
Clip4	T	C	17: 72,138,203 (GRCm39)	L467S	probably damaging	Het
Cndp2	A	G	18: 84,693,298 (GRCm39)	I154T	probably benign	Het
Cyp2j5	T	C	4: 96,546,977 (GRCm39)	N179S	possibly damaging	Het
Dpf1	A	T	7: 29,009,174 (GRCm39)	I100F	probably benign	Het
Dppa5a	A	G	9: 78,275,165 (GRCm39)	S46P	probably benign	Het
Epyc	A	G	10: 97,511,607 (GRCm39)	D200G	probably benign	Het
Ern2	C	T	7: 121,769,363 (GRCm39)	A888T	probably benign	Het
Fndc3b	C	T	3: 27,596,253 (GRCm39)	S112N	probably damaging	Het
Fras1	T	C	5: 96,917,366 (GRCm39)	V3462A	probably damaging	Het
Fstl5	T	C	3: 76,615,138 (GRCm39)	I733T	probably damaging	Het
Gdf3	C	T	6: 122,586,756 (GRCm39)	R57Q		Het
Grwd1	A	T	7: 45,480,056 (GRCm39)	D50E	probably damaging	Het
Hgf	G	T	5: 16,798,988 (GRCm39)	D339Y	probably benign	Het
Kat7	T	C	11: 95,196,982 (GRCm39)	D19G	probably damaging	Het
Lefty1	A	G	1: 180,765,290 (GRCm39)	E286G	probably damaging	Het
Lrriq3	T	C	3: 154,893,819 (GRCm39)	F507L	probably damaging	Het
Mcm4	T	A	16: 15,448,289 (GRCm39)	T423S	probably benign	Het
Metap1	T	C	3: 138,174,643 (GRCm39)	K247E	probably benign	Het
Muc4	A	T	16: 32,754,017 (GRCm38)	T1298S	possibly damaging	Het
Muc4	T	G	16: 32,575,285 (GRCm39)	I1290S	probably benign	Het
Nars1	G	T	18: 64,644,895 (GRCm39)	H82Q	probably benign	Het
Ncapg2	A	T	12: 116,415,983 (GRCm39)	E1121V	probably damaging	Het
Nebl	C	A	2: 17,397,991 (GRCm39)	E481*	probably null	Het
Pdap1	T	C	5: 145,069,672 (GRCm39)	E111G	probably damaging	Het
Pds5b	T	C	5: 150,643,379 (GRCm39)	F67S	probably damaging	Het
Pole	T	C	5: 110,445,654 (GRCm39)	F510S	probably damaging	Het
Ptpn21	A	T	12: 98,655,396 (GRCm39)	Y524N	probably damaging	Het
Ptpn4	A	T	1: 119,595,278 (GRCm39)	M887K	probably damaging	Het
Sec24b	T	C	3: 129,803,507 (GRCm39)	D414G	possibly damaging	Het
Sema5b	C	A	16: 35,467,737 (GRCm39)		probably benign	Het
Slain1	A	T	14: 103,923,164 (GRCm39)	T252S	probably damaging	Het
Slc36a3	A	G	11: 55,028,137 (GRCm39)	F164S	probably damaging	Het
Slc39a7	T	C	17: 34,249,964 (GRCm39)	H90R	unknown	Het
Slc44a4	A	T	17: 35,136,508 (GRCm39)	D58V	probably damaging	Het
Slc5a4a	A	G	10: 76,006,617 (GRCm39)	T340A	probably benign	Het
Sod2	C	A	17: 13,233,974 (GRCm39)	N195K	probably damaging	Het
Spart	T	C	3: 55,035,979 (GRCm39)	S572P	possibly damaging	Het
Sytl2	C	T	7: 90,024,810 (GRCm39)	A266V	probably benign	Het
Tbx15	T	A	3: 99,222,219 (GRCm39)	D227E	probably damaging	Het
Tfap2a	A	G	13: 40,882,308 (GRCm39)	V26A	probably benign	Het
Trank1	T	A	9: 111,208,003 (GRCm39)	F1749L	possibly damaging	Het
Trpc6	A	G	9: 8,643,411 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,706,924 (GRCm39)	I9089N	unknown	Het
Tut7	A	G	13: 59,947,942 (GRCm39)	V793A	probably benign	Het
Unc13a	T	C	8: 72,103,835 (GRCm39)	T866A	probably benign	Het
Vmn1r212	T	A	13: 23,067,494 (GRCm39)	S280C	possibly damaging	Het
Vmn2r82	A	G	10: 79,232,541 (GRCm39)	T847A	probably benign	Het
Zer1	A	G	2: 30,000,881 (GRCm39)	L180P	probably damaging	Het
Zfp445	T	G	9: 122,682,732 (GRCm39)	Y403S	probably benign	Het

Other mutations in Cdipt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01845:Cdipt	APN	7	126,578,725 (GRCm39)	missense	possibly damaging	0.84
R0063:Cdipt	UTSW	7	126,578,772 (GRCm39)	missense	probably benign
R0063:Cdipt	UTSW	7	126,578,772 (GRCm39)	missense	probably benign
R0446:Cdipt	UTSW	7	126,577,436 (GRCm39)	missense	probably damaging	1.00
R0578:Cdipt	UTSW	7	126,578,702 (GRCm39)	splice site	probably null
R0828:Cdipt	UTSW	7	126,576,092 (GRCm39)	missense	probably damaging	1.00
R2020:Cdipt	UTSW	7	126,576,105 (GRCm39)	missense	possibly damaging	0.69
R4669:Cdipt	UTSW	7	126,577,578 (GRCm39)	missense	possibly damaging	0.82
R4731:Cdipt	UTSW	7	126,577,530 (GRCm39)	missense	probably damaging	1.00
R4732:Cdipt	UTSW	7	126,577,530 (GRCm39)	missense	probably damaging	1.00
R4733:Cdipt	UTSW	7	126,577,530 (GRCm39)	missense	probably damaging	1.00
R5590:Cdipt	UTSW	7	126,578,704 (GRCm39)	splice site	probably null
R5870:Cdipt	UTSW	7	126,578,094 (GRCm39)	missense	probably benign	0.28
R6034:Cdipt	UTSW	7	126,577,497 (GRCm39)	missense	probably damaging	0.99
R6034:Cdipt	UTSW	7	126,577,497 (GRCm39)	missense	probably damaging	0.99
R6084:Cdipt	UTSW	7	126,578,773 (GRCm39)	missense	probably benign	0.10
R6090:Cdipt	UTSW	7	126,576,131 (GRCm39)	missense	possibly damaging	0.94
R7571:Cdipt	UTSW	7	126,578,794 (GRCm39)	missense	probably benign	0.05
R8245:Cdipt	UTSW	7	126,578,732 (GRCm39)	missense	probably benign
R9717:Cdipt	UTSW	7	126,576,202 (GRCm39)	unclassified	probably benign
Z1177:Cdipt	UTSW	7	126,576,116 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAATTTCTCCGAGGGACCAC -3'
(R):5'- CAGGTTGGGTCTAATCATCAGG -3'

Sequencing Primer
(F):5'- CTGGGGGAGAGAGAGGCCTC -3'
(R):5'- TGGGTCTAATCATCAGGATTAAAGAG -3'

Posted On

2021-08-02