Mutagenetix > Incidental Mutation

Incidental Mutation 'R5344:Gpcpd1'

422474

Institutional Source

Beutler Lab

Gene Symbol

Gpcpd1

Ensembl Gene

ENSMUSG00000027346

Gene Name

glycerophosphocholine phosphodiesterase 1

Synonyms

Prei4, 2310004G06Rik, 2310032D16Rik

MMRRC Submission

042923-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R5344 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132371002-132420173 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 132400597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116949 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028822] [ENSMUST00000060955] [ENSMUST00000110135] [ENSMUST00000110136] [ENSMUST00000110142] [ENSMUST00000124107] [ENSMUST00000145694] [ENSMUST00000149854] [ENSMUST00000148833]

AlphaFold

Q8C0L9

Predicted Effect

probably benign
Transcript: ENSMUST00000028822

SMART Domains

Protein: ENSMUSP00000028822
Gene: ENSMUSG00000027346

Domain	Start	End	E-Value	Type
Pfam:GDPD	142	432	1.3e-61	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000060955

SMART Domains

Protein: ENSMUSP00000062221
Gene: ENSMUSG00000027346

Domain	Start	End	E-Value	Type
CBM_2	3	110	3.78e-29	SMART
low complexity region	142	160	N/A	INTRINSIC
low complexity region	167	175	N/A	INTRINSIC
Pfam:GDPD	326	615	5.3e-61	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000110135

SMART Domains

Protein: ENSMUSP00000105762
Gene: ENSMUSG00000027346

Domain	Start	End	E-Value	Type
CBM_2	3	110	3.78e-29	SMART
low complexity region	146	155	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110136

SMART Domains

Protein: ENSMUSP00000105763
Gene: ENSMUSG00000027346

Domain	Start	End	E-Value	Type
Pfam:GDPD	142	431	4.1e-59	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000110142

SMART Domains

Protein: ENSMUSP00000105769
Gene: ENSMUSG00000027346

Domain	Start	End	E-Value	Type
CBM_2	3	110	3.78e-29	SMART
low complexity region	142	160	N/A	INTRINSIC
low complexity region	167	175	N/A	INTRINSIC
Pfam:GDPD	326	615	6.1e-63	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000124107

SMART Domains

Protein: ENSMUSP00000122751
Gene: ENSMUSG00000027346

Domain	Start	End	E-Value	Type
CBM_2	3	110	3.78e-29	SMART
low complexity region	142	160	N/A	INTRINSIC
low complexity region	167	175	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140867

Predicted Effect

silent
Transcript: ENSMUST00000145694

SMART Domains

Protein: ENSMUSP00000116457
Gene: ENSMUSG00000027346

Domain	Start	End	E-Value	Type
CBM_2	3	110	3.78e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149854

SMART Domains

Protein: ENSMUSP00000116949
Gene: ENSMUSG00000027346

Domain	Start	End	E-Value	Type
CBM_2	3	94	5.54e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148833

SMART Domains

Protein: ENSMUSP00000116156
Gene: ENSMUSG00000027346

Domain	Start	End	E-Value	Type
CBM_2	3	99	1.02e-11	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	G	12: 71,289,801 (GRCm39)	C1499G	probably benign	Het
Aldoart1	A	G	4: 72,770,352 (GRCm39)	V152A	possibly damaging	Het
Alms1	T	C	6: 85,673,771 (GRCm39)	L3591P	probably benign	Het
Ankrd12	A	T	17: 66,356,843 (GRCm39)	M58K	probably damaging	Het
Asb3	A	C	11: 31,051,114 (GRCm39)	I523L	probably benign	Het
Ascl2	T	C	7: 142,522,436 (GRCm39)	H4R	possibly damaging	Het
Asic2	T	C	11: 80,862,413 (GRCm39)	M246V	probably damaging	Het
Btc	A	T	5: 91,524,779 (GRCm39)	C53S	possibly damaging	Het
Cdhr5	T	C	7: 140,856,437 (GRCm39)	I39M	probably damaging	Het
Cdkn3	T	A	14: 47,004,807 (GRCm39)	M123K	possibly damaging	Het
Cebpz	A	G	17: 79,233,542 (GRCm39)	Y762H	possibly damaging	Het
Ces1g	T	A	8: 94,063,821 (GRCm39)		probably benign	Het
Cfap44	T	C	16: 44,236,763 (GRCm39)		probably null	Het
Chd7	G	T	4: 8,844,417 (GRCm39)	G1537W	probably damaging	Het
Clca3a2	A	T	3: 144,793,703 (GRCm39)	D317E	probably damaging	Het
Clec3a	C	A	8: 115,149,712 (GRCm39)	N56K	probably damaging	Het
Col11a1	T	A	3: 114,002,011 (GRCm39)		probably null	Het
Cox20	G	A	1: 178,149,598 (GRCm39)		probably benign	Het
Cyp2d22	A	G	15: 82,255,839 (GRCm39)	V471A	possibly damaging	Het
D630045J12Rik	A	G	6: 38,135,163 (GRCm39)	V1339A	probably damaging	Het
Duox2	T	C	2: 122,112,352 (GRCm39)	D1278G	probably benign	Het
Epc1	G	A	18: 6,450,614 (GRCm39)	P284L	probably benign	Het
Evi5l	G	T	8: 4,235,990 (GRCm39)	R61L	possibly damaging	Het
Fbln2	T	C	6: 91,243,365 (GRCm39)	Y914H	probably damaging	Het
Fbxo44	A	G	4: 148,238,030 (GRCm39)	S191P	probably damaging	Het
Fign	A	G	2: 63,809,569 (GRCm39)	I567T	probably benign	Het
Fryl	C	T	5: 73,262,117 (GRCm39)	R550K	probably damaging	Het
Hectd4	T	C	5: 121,481,739 (GRCm39)	I3096T	probably benign	Het
Hic2	T	A	16: 17,075,712 (GRCm39)	D180E	probably benign	Het
Ibtk	A	G	9: 85,617,057 (GRCm39)	F172L	possibly damaging	Het
Itga1	A	G	13: 115,138,845 (GRCm39)	S369P	possibly damaging	Het
Itgb4	G	A	11: 115,880,575 (GRCm39)	R675Q	probably null	Het
Lrrc3b	T	C	14: 15,358,591 (GRCm38)	D5G	probably damaging	Het
Maml3	T	A	3: 52,011,146 (GRCm39)	D140V	probably damaging	Het
Med21	A	G	6: 146,550,683 (GRCm39)	T65A	probably benign	Het
Mta1	T	C	12: 113,095,186 (GRCm39)		probably benign	Het
Mybpc1	T	C	10: 88,406,430 (GRCm39)	D152G	probably damaging	Het
Oas1b	C	A	5: 120,960,269 (GRCm39)	Q325K	probably benign	Het
Or10j27	A	G	1: 172,958,673 (GRCm39)	L37P	probably benign	Het
Or2n1c	C	A	17: 38,519,995 (GRCm39)	N286K	probably damaging	Het
Or5d44	A	C	2: 88,141,334 (GRCm39)	C269G	probably benign	Het
Pclo	A	G	5: 14,726,626 (GRCm39)		probably benign	Het
Phactr2	C	T	10: 13,129,360 (GRCm39)	V233I	possibly damaging	Het
Plekha2	A	T	8: 25,533,063 (GRCm39)		probably null	Het
Reg3b	A	G	6: 78,349,843 (GRCm39)	M128V	probably benign	Het
Rnaseh2a	A	G	8: 85,684,735 (GRCm39)		probably benign	Het
Scn5a	T	C	9: 119,363,073 (GRCm39)	S516G	probably benign	Het
Serpina12	T	A	12: 104,001,807 (GRCm39)		probably null	Het
Slc10a1	T	C	12: 81,000,540 (GRCm39)	T320A	possibly damaging	Het
Slc26a7	A	T	4: 14,519,402 (GRCm39)	D539E	probably benign	Het
Specc1l	C	A	10: 75,082,007 (GRCm39)	R485S	possibly damaging	Het
Srp54b	T	G	12: 55,302,366 (GRCm39)	I339S	probably damaging	Het
Tada1	G	A	1: 166,207,081 (GRCm39)		probably benign	Het
Trim16	T	C	11: 62,711,751 (GRCm39)	C54R	probably damaging	Het
Trio	C	T	15: 27,735,618 (GRCm39)	R2824Q	probably benign	Het
Ttpa	A	G	4: 20,021,245 (GRCm39)	I138V	probably damaging	Het
Ubap2	A	C	4: 41,251,578 (GRCm39)	M18R	possibly damaging	Het
Usp38	A	G	8: 81,712,392 (GRCm39)	S548P	possibly damaging	Het
Vmn2r73	T	C	7: 85,525,046 (GRCm39)	D34G	probably benign	Het
Vps13d	T	A	4: 144,904,904 (GRCm39)	H74L	probably damaging	Het
Zfp408	C	T	2: 91,475,588 (GRCm39)	C622Y	probably benign	Het
Zfp616	T	C	11: 73,975,321 (GRCm39)	I530T	possibly damaging	Het
Zfp9	C	A	6: 118,442,140 (GRCm39)	C174F	probably damaging	Het
Zfyve16	A	G	13: 92,658,096 (GRCm39)	I605T	possibly damaging	Het
Zmym5	T	C	14: 57,031,519 (GRCm39)	T530A	probably damaging	Het

Other mutations in Gpcpd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00542:Gpcpd1	APN	2	132,398,903 (GRCm39)	splice site	probably null
IGL00672:Gpcpd1	APN	2	132,372,468 (GRCm39)	utr 3 prime	probably benign
IGL00676:Gpcpd1	APN	2	132,395,931 (GRCm39)	missense	probably damaging	1.00
IGL00832:Gpcpd1	APN	2	132,388,770 (GRCm39)	missense	probably damaging	1.00
IGL00931:Gpcpd1	APN	2	132,380,038 (GRCm39)	missense	probably benign	0.00
IGL01309:Gpcpd1	APN	2	132,392,244 (GRCm39)	missense	probably damaging	0.97
IGL01960:Gpcpd1	APN	2	132,381,818 (GRCm39)	critical splice donor site	probably null
IGL02110:Gpcpd1	APN	2	132,372,530 (GRCm39)	nonsense	probably null
IGL02267:Gpcpd1	APN	2	132,410,630 (GRCm39)	missense	probably damaging	1.00
IGL02570:Gpcpd1	APN	2	132,389,605 (GRCm39)	missense	probably benign	0.01
IGL02588:Gpcpd1	APN	2	132,376,673 (GRCm39)	missense	probably damaging	1.00
IGL03306:Gpcpd1	APN	2	132,375,993 (GRCm39)	critical splice donor site	probably null
Baependi	UTSW	2	132,386,355 (GRCm39)	missense	probably damaging	1.00
R0413:Gpcpd1	UTSW	2	132,406,543 (GRCm39)	splice site	probably benign
R1876:Gpcpd1	UTSW	2	132,376,673 (GRCm39)	missense	probably damaging	1.00
R4276:Gpcpd1	UTSW	2	132,382,207 (GRCm39)	missense	probably damaging	0.99
R4571:Gpcpd1	UTSW	2	132,392,270 (GRCm39)	missense	probably benign	0.05
R4849:Gpcpd1	UTSW	2	132,376,019 (GRCm39)	missense	probably damaging	1.00
R4930:Gpcpd1	UTSW	2	132,388,794 (GRCm39)	missense	probably damaging	1.00
R5060:Gpcpd1	UTSW	2	132,386,355 (GRCm39)	missense	probably damaging	1.00
R5081:Gpcpd1	UTSW	2	132,389,622 (GRCm39)	missense	probably benign	0.17
R5148:Gpcpd1	UTSW	2	132,376,110 (GRCm39)	nonsense	probably null
R5189:Gpcpd1	UTSW	2	132,395,892 (GRCm39)	missense	probably damaging	1.00
R5623:Gpcpd1	UTSW	2	132,376,637 (GRCm39)	missense	probably damaging	1.00
R6086:Gpcpd1	UTSW	2	132,380,034 (GRCm39)	missense	probably damaging	1.00
R6787:Gpcpd1	UTSW	2	132,379,758 (GRCm39)	intron	probably benign
R6885:Gpcpd1	UTSW	2	132,395,994 (GRCm39)	missense	possibly damaging	0.56
R7223:Gpcpd1	UTSW	2	132,375,976 (GRCm39)	missense	probably benign	0.00
R7261:Gpcpd1	UTSW	2	132,410,619 (GRCm39)	missense	probably damaging	0.97
R7900:Gpcpd1	UTSW	2	132,376,659 (GRCm39)	missense	probably damaging	0.99
R8120:Gpcpd1	UTSW	2	132,395,943 (GRCm39)	missense	probably damaging	1.00
R8494:Gpcpd1	UTSW	2	132,386,355 (GRCm39)	missense	probably damaging	0.97
R9594:Gpcpd1	UTSW	2	132,388,848 (GRCm39)	missense	possibly damaging	0.80
X0018:Gpcpd1	UTSW	2	132,376,689 (GRCm39)	missense	probably damaging	1.00
X0060:Gpcpd1	UTSW	2	132,376,701 (GRCm39)	missense	probably damaging	1.00
X0066:Gpcpd1	UTSW	2	132,386,315 (GRCm39)	missense	probably benign	0.33

Predicted Primers

Posted On

2016-08-04