Mutagenetix > Incidental Mutations

Incidental Mutation 'R3828:Gpat4'

273848

Institutional Source

Beutler Lab

Gene Symbol

Gpat4

Ensembl Gene

ENSMUSG00000031545

Gene Name

glycerol-3-phosphate acyltransferase 4

Synonyms

Agpat6

MMRRC Submission

040886-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.319) question?

Stock #

R3828 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23171265-23208346 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23180155 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 286 (P286L)

Ref Sequence

ENSEMBL: ENSMUSP00000127325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167004] [ENSMUST00000209507]

Predicted Effect

probably damaging
Transcript: ENSMUST00000167004
AA Change: P286L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127325
Gene: ENSMUSG00000031545
AA Change: P286L

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	156	175	N/A	INTRINSIC
transmembrane domain	180	202	N/A	INTRINSIC
PlsC	242	353	9.31e-24	SMART
Blast:PlsC	368	413	7e-18	BLAST
low complexity region	414	425	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211260

Meta Mutation Damage Score

0.9423

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (34/34)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM, Apr 2004]
PHENOTYPE: Nursing mothers homozygous for a gene trap allele display underdeveloped mammary glands that are depleted in intracellular fat droplets and lack the ability to produce diacylglycerol- and triacylglycerol-rich milk; pups nursed by mutant mothers die neonatally unless transferred to foster mothers. [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
Camk2b	A	G	11: 6,028,932	V32A	probably damaging	Het
Cbr2	A	T	11: 120,730,452	H140Q	probably benign	Het
Cdk19	T	C	10: 40,475,613	V258A	probably damaging	Het
Cep104	T	G	4: 153,984,943	M207R	probably damaging	Het
Chd2	A	G	7: 73,491,415	Y577H	possibly damaging	Het
Col4a1	C	A	8: 11,209,650	G1341V	probably damaging	Het
Commd9	C	A	2: 101,897,141	N93K	probably benign	Het
Cx3cl1	A	T	8: 94,777,306		probably benign	Het
Cxcr6	A	T	9: 123,810,869	M319L	probably benign	Het
Dlg5	T	A	14: 24,146,158	K1308I	probably damaging	Het
Dnah17	G	A	11: 118,041,158		probably benign	Het
Ffar2	A	T	7: 30,820,085	I10N	possibly damaging	Het
Gm17521	C	A	X: 123,029,225	G149C	unknown	Het
Gm5862	T	G	5: 26,019,347	H208P	probably benign	Het
Ino80d	A	T	1: 63,062,078	M463K	possibly damaging	Het
Lrp2	G	A	2: 69,426,012	P4595S	probably benign	Het
Mark4	A	G	7: 19,443,187	I239T	possibly damaging	Het
Mcoln1	C	T	8: 3,500,601	A2V	possibly damaging	Het
Mcts1	T	C	X: 38,602,568		probably benign	Het
Mrgprb5	T	A	7: 48,168,091	M299L	probably benign	Het
Ncapg2	A	T	12: 116,407,318		probably benign	Het
Olfr679	A	G	7: 105,086,297	N194D	probably benign	Het
Pcdhga4	G	T	18: 37,687,601	L734F	possibly damaging	Het
Rrm2	G	T	12: 24,708,599	A47S	probably benign	Het
Rsg1	C	T	4: 141,218,589	R148C	probably damaging	Het
Rsph6a	T	C	7: 19,057,614	L236P	probably damaging	Het
Rtkn2	A	T	10: 67,997,626		probably null	Het
Stk11	T	C	10: 80,127,948		probably null	Het
Syt14	T	C	1: 192,901,775	N444S	probably damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Tnks	A	G	8: 34,873,178	F429L	probably damaging	Het
Usp15	T	A	10: 123,196,870	I16F	possibly damaging	Het
Vps50	T	C	6: 3,533,500	I244T	probably benign	Het

Other mutations in Gpat4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Gpat4	APN	8	23182775	missense	probably damaging	0.97
IGL01660:Gpat4	APN	8	23175338	critical splice donor site	probably null
IGL01688:Gpat4	APN	8	23181845	missense	probably benign	0.03
IGL02749:Gpat4	APN	8	23180870	missense	probably damaging	1.00
R0076:Gpat4	UTSW	8	23190705	splice site	probably benign
R0362:Gpat4	UTSW	8	23180933	missense	probably benign	0.05
R0961:Gpat4	UTSW	8	23180911	missense	probably damaging	0.96
R1876:Gpat4	UTSW	8	23179470	missense	possibly damaging	0.82
R1959:Gpat4	UTSW	8	23182936	missense	possibly damaging	0.81
R2217:Gpat4	UTSW	8	23180155	missense	probably damaging	0.97
R2313:Gpat4	UTSW	8	23180155	missense	probably damaging	0.97
R2315:Gpat4	UTSW	8	23180155	missense	probably damaging	0.97
R2969:Gpat4	UTSW	8	23180155	missense	probably damaging	0.97
R3110:Gpat4	UTSW	8	23180155	missense	probably damaging	0.97
R3112:Gpat4	UTSW	8	23180155	missense	probably damaging	0.97
R3774:Gpat4	UTSW	8	23180155	missense	probably damaging	0.97
R3775:Gpat4	UTSW	8	23180155	missense	probably damaging	0.97
R3826:Gpat4	UTSW	8	23180155	missense	probably damaging	0.97
R3829:Gpat4	UTSW	8	23180155	missense	probably damaging	0.97
R3830:Gpat4	UTSW	8	23180155	missense	probably damaging	0.97
R3943:Gpat4	UTSW	8	23180155	missense	probably damaging	0.97
R3944:Gpat4	UTSW	8	23180155	missense	probably damaging	0.97
R4384:Gpat4	UTSW	8	23174586	missense	probably benign	0.05
R4685:Gpat4	UTSW	8	23182849	utr 5 prime	probably benign
R5120:Gpat4	UTSW	8	23180202	missense	possibly damaging	0.77
R5199:Gpat4	UTSW	8	23182696	missense	possibly damaging	0.46
R5491:Gpat4	UTSW	8	23180664	missense	probably benign	0.38
R8393:Gpat4	UTSW	8	23179482	unclassified	probably benign
R8395:Gpat4	UTSW	8	23179482	unclassified	probably benign
R8396:Gpat4	UTSW	8	23179482	unclassified	probably benign
X0062:Gpat4	UTSW	8	23190711	splice site	probably null
X0064:Gpat4	UTSW	8	23175394	missense	probably damaging	1.00
Z1176:Gpat4	UTSW	8	23179798	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGATGGACCATTTGCCCCAC -3'
(R):5'- CTCACAACCAGGGGTCTAAAG -3'

Sequencing Primer
(F):5'- CACAGTTCCAAATTTGTTTATTGGG -3'
(R):5'- CACAACCAGGGGTCTAAAGAGTGG -3'

Posted On

2015-04-02