Mutagenetix > Incidental Mutation

Incidental Mutation 'R0961:Gpat4'

81883

Institutional Source

Beutler Lab

Gene Symbol

Gpat4

Ensembl Gene

ENSMUSG00000031545

Gene Name

glycerol-3-phosphate acyltransferase 4

Synonyms

Agpat6

MMRRC Submission

039090-MU

Accession Numbers

Essential gene?

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

Stock #

R0961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23661281-23698362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 23670927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 95 (C95Y)

Ref Sequence

ENSEMBL: ENSMUSP00000147679 (fasta)

Gene Model

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

AlphaFold

Q8K2C8

Predicted Effect

probably benign
Transcript: ENSMUST00000167004
AA Change: C217Y

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000127325
Gene: ENSMUSG00000031545
AA Change: C217Y

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 damaging
Transcript: ENSMUST00000209507
AA Change: C95Y

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211260

Meta Mutation Damage Score

0.2611

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.6%
20x: 89.7%

Validation Efficiency

100% (60/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	C	2: 151,314,686 (GRCm39)	S331A	probably benign	Het
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
4933412E24Rik	T	C	15: 59,887,160 (GRCm39)	I427V	probably benign	Het
Abca15	A	T	7: 119,960,208 (GRCm39)	K664*	probably null	Het
Adcy8	A	G	15: 64,626,711 (GRCm39)	V709A	possibly damaging	Het
Aox1	T	A	1: 58,349,230 (GRCm39)	D665E	probably benign	Het
Arhgap22	C	T	14: 33,089,070 (GRCm39)	T352M	probably damaging	Het
Atg9a	G	A	1: 75,163,390 (GRCm39)	L237F	probably damaging	Het
Ccdc178	T	G	18: 22,152,098 (GRCm39)	K672T	possibly damaging	Het
Ccdc63	T	G	5: 122,249,009 (GRCm39)	K440T	possibly damaging	Het
Cd55b	A	T	1: 130,341,813 (GRCm39)	W275R	probably damaging	Het
Col4a3	T	C	1: 82,686,297 (GRCm39)		probably benign	Het
Dmpk	C	G	7: 18,821,195 (GRCm39)	D204E	probably damaging	Het
Egfr	T	C	11: 16,812,964 (GRCm39)	V148A	probably damaging	Het
F11	A	T	8: 45,694,531 (GRCm39)	V610E	probably damaging	Het
Fam83b	A	T	9: 76,398,577 (GRCm39)	I842N	probably damaging	Het
Fbxw9	T	C	8: 85,788,658 (GRCm39)	Y165H	probably benign	Het
Fzd6	C	T	15: 38,889,073 (GRCm39)	L64F	probably damaging	Het
Galntl6	A	T	8: 59,364,374 (GRCm39)	H45Q	probably benign	Het
Gbp7	C	A	3: 142,247,318 (GRCm39)	S276*	probably null	Het
Gnb5	A	T	9: 75,242,933 (GRCm39)	I168F	probably damaging	Het
Gon4l	T	C	3: 88,805,403 (GRCm39)		probably benign	Het
Gstm7	T	A	3: 107,834,302 (GRCm39)		probably benign	Het
Hyal4	A	G	6: 24,755,745 (GRCm39)		probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kank4	G	A	4: 98,644,756 (GRCm39)	R999W	probably benign	Het
Kdm2a	A	G	19: 4,379,219 (GRCm39)	V92A	probably benign	Het
Klhl9	T	C	4: 88,639,974 (GRCm39)	D89G	probably benign	Het
Klre1	A	G	6: 129,559,378 (GRCm39)	T103A	probably benign	Het
Lamc1	CGCTGGC	CGC	1: 153,097,392 (GRCm39)		probably null	Het
Lamc1	G	T	1: 153,097,446 (GRCm39)	L1533I	probably benign	Het
Lca5l	T	C	16: 95,962,560 (GRCm39)	H455R	possibly damaging	Het
Lmo7	C	A	14: 102,031,705 (GRCm39)	T33K	probably benign	Het
Lrig1	A	G	6: 94,640,895 (GRCm39)		probably benign	Het
Mep1b	T	A	18: 21,221,786 (GRCm39)	Y245*	probably null	Het
Mettl24	A	G	10: 40,686,615 (GRCm39)	T331A	possibly damaging	Het
Mycbp2	A	C	14: 103,422,271 (GRCm39)	D2467E	probably damaging	Het
Myo15b	T	C	11: 115,773,280 (GRCm39)	S1871P	probably benign	Het
Ncbp1	T	C	4: 46,165,193 (GRCm39)	L502P	possibly damaging	Het
Npr1	T	C	3: 90,366,028 (GRCm39)	N588D	possibly damaging	Het
Or2g7	T	A	17: 38,378,814 (GRCm39)	Y251N	probably damaging	Het
Or8k16	A	T	2: 85,519,790 (GRCm39)	T6S	probably benign	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Phactr4	A	G	4: 132,105,731 (GRCm39)	S112P	probably benign	Het
R3hdm1	C	T	1: 128,121,333 (GRCm39)	T279I	probably benign	Het
Rere	A	G	4: 150,699,829 (GRCm39)		probably benign	Het
Ryr1	T	A	7: 28,709,122 (GRCm39)	E4779V	unknown	Het
Sh2d4b	A	G	14: 40,596,139 (GRCm39)	V81A	probably benign	Het
Slc10a5	T	C	3: 10,399,484 (GRCm39)	H392R	probably benign	Het
Slc26a4	T	C	12: 31,585,618 (GRCm39)	T477A	probably benign	Het
Spata31d1b	T	C	13: 59,865,618 (GRCm39)	V922A	possibly damaging	Het
Sptan1	T	A	2: 29,870,075 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,523,920 (GRCm39)	D705G	probably benign	Het
Tdpoz3	T	A	3: 93,734,188 (GRCm39)	S288T	probably benign	Het
Tsga10	A	G	1: 37,800,509 (GRCm39)		probably null	Het
Usp18	G	A	6: 121,238,452 (GRCm39)	A200T	probably benign	Het
Zfp759	A	T	13: 67,287,927 (GRCm39)	T493S	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
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
R3944: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'- ACACAGATGCCACCATTTCTTGGTC -3'
(R):5'- AGAGTAGGTTTCCCTTCCACCCAC -3'

Sequencing Primer
(F):5'- ACCATTTCTTGGTCTGTTTTTCCTG -3'
(R):5'- GGTGAACGCCATCAAGTTTC -3'

Posted On

2013-11-08