Mutagenetix > Incidental Mutation

Incidental Mutation 'R8234:Gpat3'

637259

Institutional Source

Beutler Lab

Gene Symbol

Gpat3

Ensembl Gene

ENSMUSG00000029314

Gene Name

glycerol-3-phosphate acyltransferase 3

Synonyms

4933407I02Rik, Agpat9, A230097K15Rik

MMRRC Submission

067666-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R8234 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100994095-101046968 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 101005076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031255] [ENSMUST00000092990] [ENSMUST00000112887]

AlphaFold

Q8C0N2

Predicted Effect

probably null
Transcript: ENSMUST00000031255

SMART Domains

Protein: ENSMUSP00000031255
Gene: ENSMUSG00000029314

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Blast:PlsC	99	160	7e-6	BLAST
low complexity region	166	177	N/A	INTRINSIC
PlsC	223	334	5.96e-22	SMART
Blast:PlsC	348	396	2e-22	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000092990

SMART Domains

Protein: ENSMUSP00000090667
Gene: ENSMUSG00000029314

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Blast:PlsC	99	160	7e-6	BLAST
low complexity region	166	177	N/A	INTRINSIC
PlsC	223	334	5.96e-22	SMART
Blast:PlsC	348	396	2e-22	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000112887

SMART Domains

Protein: ENSMUSP00000108508
Gene: ENSMUSG00000029314

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Blast:PlsC	99	160	7e-6	BLAST
low complexity region	166	177	N/A	INTRINSIC
PlsC	223	334	5.96e-22	SMART
Blast:PlsC	348	396	2e-22	BLAST

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (49/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the lysophosphatidic acid acyltransferase protein family. The encoded protein is an enzyme which catalyzes the conversion of glycerol-3-phosphate to lysophosphatidic acid in the synthesis of triacylglycerol. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012]
PHENOTYPE: Under high-fat feeding, mice homozygous for a knock-out allele exhibit increased energy expenditure, improved glucose homeostasis, enlarged livers, increased total serum cholesterol levels, altered liver cholesterol metabolism, and female-specific protection from diet-induced obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd4	T	A	14: 54,499,133 (GRCm39)	M38K	probably benign	Het
Ackr1	T	A	1: 173,159,582 (GRCm39)	R312S	probably benign	Het
Akap9	T	C	5: 4,094,845 (GRCm39)	V2213A	probably benign	Het
Alox5	T	A	6: 116,390,835 (GRCm39)	R439W	probably damaging	Het
Atrn	A	T	2: 130,864,920 (GRCm39)		probably null	Het
Casd1	A	G	6: 4,601,209 (GRCm39)	N14S	probably damaging	Het
Cry2	T	C	2: 92,242,974 (GRCm39)	S542G	probably benign	Het
Cyb5rl	A	G	4: 106,925,935 (GRCm39)	Y39C	probably damaging	Het
Dmpk	A	T	7: 18,822,048 (GRCm39)	K335N	probably benign	Het
Dnai1	A	G	4: 41,625,221 (GRCm39)	D395G	probably benign	Het
Dock4	C	T	12: 40,884,837 (GRCm39)		probably null	Het
Eif1ad5	A	T	12: 87,940,508 (GRCm39)	I71L	noncoding transcript	Het
Fmo4	T	C	1: 162,632,757 (GRCm39)	D198G	probably damaging	Het
Foxc2	G	A	8: 121,844,777 (GRCm39)	R475Q	probably damaging	Het
Gipr	C	A	7: 18,898,533 (GRCm39)	G37V	unknown	Het
Hcn4	A	G	9: 58,751,433 (GRCm39)	D353G	unknown	Het
Hectd4	T	A	5: 121,477,607 (GRCm39)	N2843K	possibly damaging	Het
Hmcn1	C	T	1: 150,469,761 (GRCm39)	V4973M	possibly damaging	Het
Il20rb	C	T	9: 100,341,263 (GRCm39)	S281N	probably benign	Het
Kcnh4	A	T	11: 100,643,093 (GRCm39)	N391K	possibly damaging	Het
Kitl	A	G	10: 99,887,708 (GRCm39)	T6A	probably damaging	Het
Krt36	A	G	11: 99,995,027 (GRCm39)	Y182H	probably damaging	Het
Lrp1b	T	G	2: 41,202,668 (GRCm39)	I1262L		Het
Mtf1	A	G	4: 124,738,039 (GRCm39)	E644G	probably benign	Het
Mtx2	A	G	2: 74,699,706 (GRCm39)	Y159C	probably damaging	Het
Nags	C	T	11: 102,039,824 (GRCm39)	S504F	probably damaging	Het
Ncam1	A	T	9: 49,456,523 (GRCm39)	F475L	probably damaging	Het
Nipal2	G	T	15: 34,600,178 (GRCm39)	T213N	possibly damaging	Het
Or52m1	T	A	7: 102,289,678 (GRCm39)	L75Q	probably damaging	Het
Or8h8	A	G	2: 86,753,313 (GRCm39)	S188P	probably damaging	Het
Pkm	T	C	9: 59,577,882 (GRCm39)	V233A	possibly damaging	Het
Pros1	T	A	16: 62,748,540 (GRCm39)	I671N	possibly damaging	Het
Rasd1	T	C	11: 59,855,118 (GRCm39)	I121V	probably damaging	Het
Relch	T	C	1: 105,681,235 (GRCm39)	S1180P	possibly damaging	Het
Samhd1	A	G	2: 156,958,270 (GRCm39)		probably null	Het
Serpinb9f	A	T	13: 33,509,898 (GRCm39)	Y30F	probably benign	Het
Slc5a10	T	C	11: 61,564,107 (GRCm39)	I543V	probably benign	Het
Stat5a	A	G	11: 100,770,129 (GRCm39)	I469V	possibly damaging	Het
Sugct	T	C	13: 17,032,459 (GRCm39)	E431G	probably benign	Het
Tecr	C	A	8: 84,299,880 (GRCm39)	R133L	possibly damaging	Het
Tiparp	A	G	3: 65,439,002 (GRCm39)	N106S	probably benign	Het
Triml1	T	C	8: 43,594,285 (GRCm39)	S49G	probably benign	Het
Trpm3	T	A	19: 22,692,640 (GRCm39)	S244T	possibly damaging	Het
Ttn	T	C	2: 76,553,324 (GRCm39)	D31055G	probably damaging	Het
Vcp	A	T	4: 42,985,242 (GRCm39)	I369N	probably damaging	Het
Vmn2r110	A	C	17: 20,804,691 (GRCm39)	N76K	probably benign	Het
Vmn2r12	T	C	5: 109,234,074 (GRCm39)	T713A	probably benign	Het
Vmn2r17	A	T	5: 109,601,235 (GRCm39)	K844N	probably benign	Het

Other mutations in Gpat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Gpat3	APN	5	101,041,010 (GRCm39)	missense	probably benign	0.01
R1429:Gpat3	UTSW	5	101,040,953 (GRCm39)	missense	probably damaging	0.99
R1539:Gpat3	UTSW	5	101,031,254 (GRCm39)	missense	probably benign	0.00
R1830:Gpat3	UTSW	5	101,041,046 (GRCm39)	missense	probably benign
R2030:Gpat3	UTSW	5	101,045,687 (GRCm39)	missense	probably benign
R2440:Gpat3	UTSW	5	101,005,039 (GRCm39)	missense	probably benign
R2444:Gpat3	UTSW	5	101,005,039 (GRCm39)	missense	probably benign
R3039:Gpat3	UTSW	5	101,045,671 (GRCm39)	missense	possibly damaging	0.75
R3813:Gpat3	UTSW	5	101,039,505 (GRCm39)	splice site	probably benign
R3830:Gpat3	UTSW	5	101,032,252 (GRCm39)	missense	probably benign	0.02
R4636:Gpat3	UTSW	5	101,005,039 (GRCm39)	missense	probably benign
R4637:Gpat3	UTSW	5	101,005,039 (GRCm39)	missense	probably benign
R4679:Gpat3	UTSW	5	101,041,322 (GRCm39)	missense	probably damaging	1.00
R4792:Gpat3	UTSW	5	101,005,039 (GRCm39)	missense	probably benign
R5229:Gpat3	UTSW	5	101,031,290 (GRCm39)	missense	probably damaging	1.00
R5661:Gpat3	UTSW	5	101,033,808 (GRCm39)	nonsense	probably null
R6383:Gpat3	UTSW	5	101,041,010 (GRCm39)	missense	probably benign	0.01
R8064:Gpat3	UTSW	5	101,039,522 (GRCm39)	missense	probably benign	0.36
R9047:Gpat3	UTSW	5	100,994,788 (GRCm39)	missense	probably benign	0.00
R9180:Gpat3	UTSW	5	101,032,230 (GRCm39)	missense	probably benign	0.00
X0023:Gpat3	UTSW	5	101,033,826 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TTCAGACAGTGCCCAGACTTG -3'
(R):5'- CTCTGCATAGACCAACTTCCAATTG -3'

Sequencing Primer
(F):5'- CCAGACTTGGTGTTCACAGCTG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2020-07-13