Mutagenetix > Incidental Mutation

Incidental Mutation 'R2217:Gpat4'

241213

Institutional Source

Beutler Lab

Gene Symbol

Gpat4

Ensembl Gene

ENSMUSG00000031545

Gene Name

glycerol-3-phosphate acyltransferase 4

Synonyms

Agpat6

MMRRC Submission

040219-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.440) question?

Stock #

R2217 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23171265-23208346 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23180155 bp (GRCm38)

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]

AlphaFold

Q8K2C8

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: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	T	C	8: 111,982,496	K232E	probably benign	Het
Apba1	T	C	19: 23,893,962	M386T	probably damaging	Het
Appl2	G	T	10: 83,608,737	F472L	possibly damaging	Het
Atxn2	T	C	5: 121,803,077	Y56H	probably damaging	Het
Cacna1c	T	C	6: 118,670,407	Y809C	probably damaging	Het
Canx	C	T	11: 50,310,867	V59I	probably benign	Het
Catsperb	T	C	12: 101,594,219	L823P	probably damaging	Het
Crb3	T	C	17: 57,065,090	S46P	probably benign	Het
Daam1	G	A	12: 71,989,827	R1058H	probably damaging	Het
Ehd1	T	A	19: 6,298,472	D493E	probably damaging	Het
Eml6	T	A	11: 29,818,907	Q746L	probably damaging	Het
Epg5	T	A	18: 77,949,072	M328K	probably benign	Het
Flt4	T	A	11: 49,624,728	S48T	probably benign	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716		probably null	Het
Gm7535	A	G	17: 17,911,674		probably benign	Het
Hmcn2	A	T	2: 31,350,574	T494S	probably benign	Het
Hydin	G	A	8: 110,418,506	V830I	probably benign	Het
Map3k6	T	A	4: 133,246,672	H487Q	possibly damaging	Het
Myh14	G	A	7: 44,634,376	P735S	probably damaging	Het
Nfkb2	T	C	19: 46,307,724		probably null	Het
Nlrp4c	T	C	7: 6,073,114	V671A	probably benign	Het
Nsrp1	A	T	11: 77,045,761	Y536*	probably null	Het
Olfr1217	G	T	2: 89,023,426	H192Q	probably benign	Het
Pak7	A	G	2: 136,116,203	S322P	probably damaging	Het
Pank2	A	G	2: 131,282,681		probably null	Het
Phf6	A	T	X: 52,942,648	I272F	probably damaging	Het
Plxna2	T	C	1: 194,797,748	L1409P	probably damaging	Het
Polr2a	A	G	11: 69,742,685		probably null	Het
Pp2d1	C	A	17: 53,515,454	V195L	probably benign	Het
Psma1	C	T	7: 114,264,938	E227K	unknown	Het
Ptger1	C	T	8: 83,668,728	T278I	probably benign	Het
Slc20a2	C	A	8: 22,560,516	S250R	probably benign	Het
Slc27a2	A	G	2: 126,567,752	T285A	probably damaging	Het
Slc47a2	T	C	11: 61,313,671	T285A	probably benign	Het
Slf1	T	A	13: 77,046,706		probably null	Het
Tiam2	A	G	17: 3,415,114	T373A	probably benign	Het
Timd2	T	A	11: 46,687,017	I96L	probably damaging	Het
Tmem59l	A	G	8: 70,487,301	L6S	unknown	Het
Tmem64	T	C	4: 15,266,658	I236T	possibly damaging	Het
Trpm2	T	A	10: 77,941,182	D427V	probably damaging	Het
Vax2	A	T	6: 83,737,889	Y262F	probably damaging	Het
Virma	T	C	4: 11,544,924	S1628P	probably damaging	Het
Zan	C	A	5: 137,410,306		probably benign	Het
Zbtb22	T	G	17: 33,917,965	D361E	probably damaging	Het
Zfp27	A	G	7: 29,896,111	L143P	possibly damaging	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
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
R3828: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'- TCACAACCAGGGGTCTAAAGAG -3'

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

Posted On

2014-10-15