Mutagenetix > Incidental Mutations

Incidental Mutation 'R5146:Gpam'

395132

Institutional Source

Beutler Lab

Gene Symbol

Gpam

Ensembl Gene

ENSMUSG00000024978

Gene Name

glycerol-3-phosphate acyltransferase, mitochondrial

Synonyms

GPAT1

MMRRC Submission

042730-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.312) question?

Stock #

R5146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55069734-55099451 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55093946 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 91 (V91A)

Ref Sequence

ENSEMBL: ENSMUSP00000057635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061856]

Predicted Effect

probably damaging
Transcript: ENSMUST00000061856
AA Change: V91A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057635
Gene: ENSMUSG00000024978
AA Change: V91A

Domain	Start	End	E-Value	Type
Blast:PlsC	5	34	3e-8	BLAST
PlsC	224	357	2.46e-23	SMART
Blast:PlsC	499	551	8e-27	BLAST
low complexity region	687	699	N/A	INTRINSIC

Meta Mutation Damage Score

0.1296

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

97% (35/36)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous mutant mice weighed less than controls and showed reduced triacylglycerol levels in the liver and plasma. The glycerolipid fatty acid composition is also disrupted in mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,243,025	D1498G	possibly damaging	Het
Adcyap1r1	A	G	6: 55,484,972	I329V	probably benign	Het
Ahnak2	A	C	12: 112,775,726	H637Q	probably benign	Het
Carmil3	A	G	14: 55,497,179	D455G	probably benign	Het
Cdh7	A	G	1: 109,994,312	T45A	probably damaging	Het
Chil4	T	A	3: 106,202,834	T315S	probably benign	Het
Cntnap5c	T	C	17: 58,013,847	V138A	probably damaging	Het
Csmd1	T	C	8: 16,196,190	D1065G	probably damaging	Het
Cspp1	C	T	1: 10,074,876	R296*	probably null	Het
Dnah17	A	G	11: 118,114,179	M793T	probably damaging	Het
Dock4	A	G	12: 40,649,492		probably null	Het
Fgfr4	G	T	13: 55,165,912	L511F	probably damaging	Het
Gm14415	T	C	2: 177,104,231		noncoding transcript	Het
Gm7030	A	G	17: 36,129,015	W76R	probably damaging	Het
Grin2b	T	A	6: 135,779,342	I462F	probably damaging	Het
Grwd1	A	T	7: 45,827,834	F210I	probably damaging	Het
Itfg1	T	C	8: 85,718,868	*611W	probably null	Het
Kcna2	T	C	3: 107,105,498	V465A	probably benign	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Myo15b	A	G	11: 115,891,198	T1444A	probably benign	Het
Nlgn3	G	A	X: 101,318,285	V287I	probably benign	Het
Oas1c	A	G	5: 120,802,094	S336P	probably benign	Het
Pirb	T	C	7: 3,712,621		probably benign	Het
Pot1b	A	T	17: 55,672,865	Y330*	probably null	Het
Rnf20	A	T	4: 49,651,456	M641L	probably benign	Het
Sppl2b	T	C	10: 80,867,640	*579Q	probably null	Het
Sumf1	G	A	6: 108,185,310	P83S	probably benign	Het
Tmem101	C	T	11: 102,154,624	R133Q	probably benign	Het
Ttn	G	A	2: 76,870,363		probably benign	Het
Vmn2r84	A	G	10: 130,386,102	Y750H	probably damaging	Het
Zfp873	A	G	10: 82,060,224	Y300C	probably damaging	Het

Other mutations in Gpam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Gpam	APN	19	55078332	missense	possibly damaging	0.71
IGL01349:Gpam	APN	19	55096119	critical splice donor site	probably null
IGL01515:Gpam	APN	19	55087451	missense	probably damaging	1.00
IGL01650:Gpam	APN	19	55081700	missense	probably benign	0.02
IGL01768:Gpam	APN	19	55087520	missense	probably benign	0.00
IGL01809:Gpam	APN	19	55075625	nonsense	probably null
IGL01878:Gpam	APN	19	55083374	missense	probably benign	0.22
IGL02451:Gpam	APN	19	55088203	missense	probably damaging	1.00
IGL03293:Gpam	APN	19	55071016	missense	probably benign
IGL03391:Gpam	APN	19	55081696	missense	probably damaging	1.00
R0492:Gpam	UTSW	19	55096179	missense	possibly damaging	0.72
R0703:Gpam	UTSW	19	55072756	missense	probably benign	0.00
R1083:Gpam	UTSW	19	55088211	splice site	probably benign
R1432:Gpam	UTSW	19	55079261	missense	probably damaging	0.99
R1457:Gpam	UTSW	19	55088176	missense	probably damaging	1.00
R1556:Gpam	UTSW	19	55076331	missense	possibly damaging	0.94
R1733:Gpam	UTSW	19	55081469	missense	probably damaging	0.99
R1744:Gpam	UTSW	19	55074591	missense	probably damaging	1.00
R1776:Gpam	UTSW	19	55078575	missense	possibly damaging	0.88
R2267:Gpam	UTSW	19	55072710	critical splice donor site	probably null
R2697:Gpam	UTSW	19	55083209	missense	probably damaging	1.00
R3836:Gpam	UTSW	19	55080458	missense	probably benign
R3837:Gpam	UTSW	19	55080458	missense	probably benign
R3838:Gpam	UTSW	19	55080458	missense	probably benign
R3839:Gpam	UTSW	19	55080458	missense	probably benign
R4670:Gpam	UTSW	19	55096119	critical splice donor site	probably null
R4717:Gpam	UTSW	19	55075614	missense	probably benign	0.00
R4819:Gpam	UTSW	19	55078341	missense	probably benign	0.03
R5104:Gpam	UTSW	19	55093986	missense	probably benign	0.44
R5183:Gpam	UTSW	19	55083227	missense	probably damaging	1.00
R5326:Gpam	UTSW	19	55091165	missense	probably benign	0.05
R5347:Gpam	UTSW	19	55088837	missense	probably damaging	1.00
R5621:Gpam	UTSW	19	55079260	missense	probably damaging	1.00
R5644:Gpam	UTSW	19	55088899	missense	probably benign	0.00
R6244:Gpam	UTSW	19	55070985	missense	probably damaging	1.00
R6260:Gpam	UTSW	19	55083406	missense	probably benign	0.40
R6965:Gpam	UTSW	19	55074609	missense	probably damaging	1.00
R7125:Gpam	UTSW	19	55076335	missense	probably benign
R7567:Gpam	UTSW	19	55081630	missense	possibly damaging	0.86
R7715:Gpam	UTSW	19	55088921	missense	probably benign	0.19
R7719:Gpam	UTSW	19	55081670	missense	probably damaging	1.00
R7863:Gpam	UTSW	19	55070956	missense	probably damaging	1.00
R8187:Gpam	UTSW	19	55077837	missense	probably benign
R8434:Gpam	UTSW	19	55081631	missense	possibly damaging	0.93
R8483:Gpam	UTSW	19	55088942	missense	probably damaging	0.99
R8510:Gpam	UTSW	19	55080382	critical splice donor site	probably null
R8537:Gpam	UTSW	19	55096239	missense	probably benign	0.02
R8841:Gpam	UTSW	19	55078518	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGGATGCTTAGATGCAGGC -3'
(R):5'- AATACCATTGCCTTTGGTTTTAGGG -3'

Sequencing Primer
(F):5'- ATGCTTAGATGCAGGCCCATG -3'
(R):5'- GGGTTTCAAAGTTAAACTTGAGTTTG -3'

Posted On

2016-06-21