Mutagenetix > Incidental Mutation

Incidental Mutation 'R3944:Gpat4'

307595

Institutional Source

Beutler Lab

Gene Symbol

Gpat4

Ensembl Gene

ENSMUSG00000031545

Gene Name

glycerol-3-phosphate acyltransferase 4

Synonyms

Agpat6

MMRRC Submission

040925-MU

Accession Numbers

Essential gene?

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

Stock #

R3944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23661281-23698362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23670171 bp (GRCm39)

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: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
6430548M08Rik	T	C	8: 120,879,241 (GRCm39)	L213P	probably damaging	Het
Akap12	A	G	10: 4,307,347 (GRCm39)	K1491E	probably benign	Het
Akr1c12	T	A	13: 4,329,339 (GRCm39)	H6L	probably benign	Het
Ankrd50	C	T	3: 38,506,645 (GRCm39)	C251Y	probably benign	Het
Bltp1	A	G	3: 37,084,210 (GRCm39)	I3876V	possibly damaging	Het
Bltp2	T	A	11: 78,160,350 (GRCm39)	L603*	probably null	Het
Calu	T	C	6: 29,361,710 (GRCm39)	S125P	possibly damaging	Het
Cdh10	A	G	15: 18,964,335 (GRCm39)	T166A	probably benign	Het
Clip1	T	C	5: 123,755,892 (GRCm39)		probably benign	Het
Cntn4	T	G	6: 106,595,375 (GRCm39)	N497K	probably benign	Het
Cspg4	T	A	9: 56,793,407 (GRCm39)	C381S	probably damaging	Het
Cyp1a2	T	C	9: 57,589,151 (GRCm39)	N221S	probably benign	Het
Dnaaf5	C	T	5: 139,138,679 (GRCm39)		probably benign	Het
Dnah7b	A	G	1: 46,176,645 (GRCm39)	D755G	probably damaging	Het
Dscam	A	T	16: 96,622,197 (GRCm39)	V418E	probably damaging	Het
Eefsec	T	A	6: 88,275,076 (GRCm39)	H296L	probably benign	Het
Elmo3	T	C	8: 106,035,852 (GRCm39)		probably null	Het
Gcm1	C	T	9: 77,967,098 (GRCm39)	Q106*	probably null	Het
Gnl1	G	T	17: 36,299,413 (GRCm39)	G528V	probably benign	Het
H2-T23	A	G	17: 36,341,535 (GRCm39)	V312A	probably benign	Het
Hectd4	C	A	5: 121,441,588 (GRCm39)		probably benign	Het
Hoxa7	T	A	6: 52,193,606 (GRCm39)		probably benign	Het
Ifnlr1	T	A	4: 135,428,539 (GRCm39)	V122E	probably damaging	Het
Kcnt2	T	C	1: 140,512,025 (GRCm39)	M1036T	probably damaging	Het
Khdc1b	G	T	1: 21,455,030 (GRCm39)	K96N	probably damaging	Het
Kif19a	A	T	11: 114,677,561 (GRCm39)	Y578F	probably benign	Het
Krt4	G	A	15: 101,829,685 (GRCm39)	T281M	probably benign	Het
Lyl1	A	C	8: 85,430,631 (GRCm39)	T178P	probably damaging	Het
Marchf6	A	G	15: 31,488,960 (GRCm39)	V317A	probably benign	Het
Mmp1b	G	A	9: 7,384,708 (GRCm39)	T280I	possibly damaging	Het
Mpi	T	C	9: 57,452,536 (GRCm39)	D332G	probably damaging	Het
Naip6	T	C	13: 100,431,247 (GRCm39)	T1197A	probably benign	Het
Ntng2	G	A	2: 29,094,289 (GRCm39)	L361F	probably benign	Het
Obscn	A	T	11: 59,023,373 (GRCm39)	I668N	probably damaging	Het
Or52x1	A	T	7: 104,853,162 (GRCm39)	C129*	probably null	Het
Or8k40	A	G	2: 86,584,525 (GRCm39)	S186P	probably benign	Het
Pabpc1l	A	G	2: 163,884,247 (GRCm39)	E328G	probably damaging	Het
Pan3	A	T	5: 147,387,540 (GRCm39)	N170Y	probably damaging	Het
Prdm2	C	T	4: 142,858,385 (GRCm39)	R1635Q	possibly damaging	Het
Rassf6	G	T	5: 90,752,185 (GRCm39)	Q258K	possibly damaging	Het
Ribc2	A	G	15: 85,019,451 (GRCm39)	M78V	probably benign	Het
Rp9	A	C	9: 22,361,154 (GRCm39)	H44Q	probably damaging	Het
Skint5	T	A	4: 113,799,950 (GRCm39)	H73L	probably damaging	Het
Slc6a12	A	T	6: 121,331,239 (GRCm39)		probably null	Het
Smg6	G	A	11: 74,820,367 (GRCm39)	G213R	probably damaging	Het
Spout1	A	G	2: 30,064,148 (GRCm39)	V372A	probably benign	Het
Svep1	T	A	4: 58,084,807 (GRCm39)		probably null	Het
Tab1	T	C	15: 80,037,941 (GRCm39)	L258P	probably damaging	Het
Tbl3	A	G	17: 24,919,682 (GRCm39)	S791P	possibly damaging	Het
Tcof1	C	A	18: 60,955,909 (GRCm39)	D927Y	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Topaz1	T	C	9: 122,579,669 (GRCm39)	S860P	possibly damaging	Het
Vill	T	C	9: 118,897,499 (GRCm39)	I258T	probably benign	Het
Vmn1r204	G	A	13: 22,741,014 (GRCm39)	R215H	probably benign	Het
Vmn2r106	A	T	17: 20,487,913 (GRCm39)	F829I	probably damaging	Het
Vmn2r14	A	T	5: 109,363,930 (GRCm39)	I662N	probably damaging	Het
Vmn2r58	A	T	7: 41,513,885 (GRCm39)	F253I	probably benign	Het
Vps8	A	T	16: 21,288,873 (GRCm39)	N411Y	probably damaging	Het
Zfp932	T	A	5: 110,157,820 (GRCm39)	V506E	probably benign	Het

Other mutations in Gpat4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00579:Gpat4	APN	8	23,672,791 (GRCm39)	missense	probably damaging	0.97
IGL01660:Gpat4	APN	8	23,665,354 (GRCm39)	critical splice donor site	probably null
IGL01688:Gpat4	APN	8	23,671,861 (GRCm39)	missense	probably benign	0.03
IGL02749:Gpat4	APN	8	23,670,886 (GRCm39)	missense	probably damaging	1.00
R0076:Gpat4	UTSW	8	23,680,721 (GRCm39)	splice site	probably benign
R0362:Gpat4	UTSW	8	23,670,949 (GRCm39)	missense	probably benign	0.05
R0961:Gpat4	UTSW	8	23,670,927 (GRCm39)	missense	probably damaging	0.96
R1876:Gpat4	UTSW	8	23,669,486 (GRCm39)	missense	possibly damaging	0.82
R1959:Gpat4	UTSW	8	23,672,952 (GRCm39)	missense	possibly damaging	0.81
R2217:Gpat4	UTSW	8	23,670,171 (GRCm39)	missense	probably damaging	0.97
R2313:Gpat4	UTSW	8	23,670,171 (GRCm39)	missense	probably damaging	0.97
R2315:Gpat4	UTSW	8	23,670,171 (GRCm39)	missense	probably damaging	0.97
R2969:Gpat4	UTSW	8	23,670,171 (GRCm39)	missense	probably damaging	0.97
R3110:Gpat4	UTSW	8	23,670,171 (GRCm39)	missense	probably damaging	0.97
R3112:Gpat4	UTSW	8	23,670,171 (GRCm39)	missense	probably damaging	0.97
R3774:Gpat4	UTSW	8	23,670,171 (GRCm39)	missense	probably damaging	0.97
R3775:Gpat4	UTSW	8	23,670,171 (GRCm39)	missense	probably damaging	0.97
R3826:Gpat4	UTSW	8	23,670,171 (GRCm39)	missense	probably damaging	0.97
R3828:Gpat4	UTSW	8	23,670,171 (GRCm39)	missense	probably damaging	0.97
R3829:Gpat4	UTSW	8	23,670,171 (GRCm39)	missense	probably damaging	0.97
R3830:Gpat4	UTSW	8	23,670,171 (GRCm39)	missense	probably damaging	0.97
R3943:Gpat4	UTSW	8	23,670,171 (GRCm39)	missense	probably damaging	0.97
R4384:Gpat4	UTSW	8	23,664,602 (GRCm39)	missense	probably benign	0.05
R4685:Gpat4	UTSW	8	23,672,865 (GRCm39)	utr 5 prime	probably benign
R5120:Gpat4	UTSW	8	23,670,218 (GRCm39)	missense	possibly damaging	0.77
R5199:Gpat4	UTSW	8	23,672,712 (GRCm39)	missense	possibly damaging	0.46
R5491:Gpat4	UTSW	8	23,670,680 (GRCm39)	missense	probably benign	0.38
R8393:Gpat4	UTSW	8	23,669,498 (GRCm39)	unclassified	probably benign
R8395:Gpat4	UTSW	8	23,669,498 (GRCm39)	unclassified	probably benign
R8396:Gpat4	UTSW	8	23,669,498 (GRCm39)	unclassified	probably benign
X0062:Gpat4	UTSW	8	23,680,727 (GRCm39)	splice site	probably null
X0064:Gpat4	UTSW	8	23,665,410 (GRCm39)	missense	probably damaging	1.00
Z1176:Gpat4	UTSW	8	23,669,814 (GRCm39)	missense	probably benign

Predicted Primers

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

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

Posted On

2015-04-17