Mutagenetix > Incidental Mutation

Incidental Mutation 'R5493:Agpat3'

432188

Institutional Source

Beutler Lab

Gene Symbol

Agpat3

Ensembl Gene

ENSMUSG00000001211

Gene Name

1-acylglycerol-3-phosphate O-acyltransferase 3

Synonyms

D10Jhu12e, LPAAT3

MMRRC Submission

043054-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R5493 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78105012-78188323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78120069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 155 (V155A)

Ref Sequence

ENSEMBL: ENSMUSP00000132954 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001240] [ENSMUST00000105387] [ENSMUST00000105388] [ENSMUST00000105389] [ENSMUST00000105390] [ENSMUST00000138035] [ENSMUST00000139282] [ENSMUST00000166360] [ENSMUST00000146899] [ENSMUST00000219932] [ENSMUST00000150828]

AlphaFold

Q9D517

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001240
AA Change: V155A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001240
Gene: ENSMUSG00000001211
AA Change: V155A

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
PlsC	90	212	3.14e-21	SMART
transmembrane domain	308	330	N/A	INTRINSIC
transmembrane domain	335	357	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105387
AA Change: V155A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101026
Gene: ENSMUSG00000001211
AA Change: V155A

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
PlsC	90	212	3.14e-21	SMART
transmembrane domain	308	330	N/A	INTRINSIC
transmembrane domain	335	357	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105388
AA Change: V155A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101027
Gene: ENSMUSG00000001211
AA Change: V155A

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
PlsC	90	212	3.14e-21	SMART
transmembrane domain	308	330	N/A	INTRINSIC
transmembrane domain	335	357	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105389
AA Change: V155A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101028
Gene: ENSMUSG00000001211
AA Change: V155A

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
PlsC	90	212	3.14e-21	SMART
transmembrane domain	308	330	N/A	INTRINSIC
transmembrane domain	335	357	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105390
AA Change: V155A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101029
Gene: ENSMUSG00000001211
AA Change: V155A

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
PlsC	90	212	3.14e-21	SMART
transmembrane domain	308	330	N/A	INTRINSIC
transmembrane domain	335	357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138035

SMART Domains

Protein: ENSMUSP00000121052
Gene: ENSMUSG00000001211

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139282

SMART Domains

Protein: ENSMUSP00000119713
Gene: ENSMUSG00000001211

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:Acyltransferase	72	144	3.1e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166360
AA Change: V155A

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132954
Gene: ENSMUSG00000001211
AA Change: V155A

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
PlsC	90	212	3.14e-21	SMART
Pfam:Acyltransf_C	241	314	2.1e-29	PFAM
transmembrane domain	335	357	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219907

Predicted Effect

probably benign
Transcript: ENSMUST00000146899

SMART Domains

Protein: ENSMUSP00000114657
Gene: ENSMUSG00000001211

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219932

Predicted Effect

probably benign
Transcript: ENSMUST00000150828

SMART Domains

Protein: ENSMUSP00000114885
Gene: ENSMUSG00000001211

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Blast:PlsC	90	129	5e-20	BLAST

Meta Mutation Damage Score

0.4060

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.1%
20x: 90.4%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with oligozoospermia, teratozoospermia. [provided by MGI curators]

Allele List at MGI

All alleles(14) : Targeted(2) Gene trapped(12)

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	A	G	16: 21,471,993 (GRCm39)	S236P	possibly damaging	Het
A830018L16Rik	C	T	1: 11,615,431 (GRCm39)	R135C	probably damaging	Het
Aldh18a1	C	T	19: 40,539,734 (GRCm39)	R747Q	probably damaging	Het
Aloxe3	A	T	11: 69,019,443 (GRCm39)	R119*	probably null	Het
Asap1	A	G	15: 64,002,000 (GRCm39)	V460A	possibly damaging	Het
Bicral	C	A	17: 47,112,620 (GRCm39)	R860L	possibly damaging	Het
Cd180	T	A	13: 102,842,649 (GRCm39)	I565N	probably benign	Het
Cdk13	T	C	13: 17,978,147 (GRCm39)		probably benign	Het
Cdkn2d	T	C	9: 21,200,303 (GRCm39)	D156G	probably benign	Het
Clrn1	A	G	3: 58,753,837 (GRCm39)	S175P	probably damaging	Het
Coro7	A	G	16: 4,450,351 (GRCm39)	L535S	probably damaging	Het
Cse1l	A	G	2: 166,783,110 (GRCm39)		probably benign	Het
Cyp2a12	T	C	7: 26,728,550 (GRCm39)	L7P	unknown	Het
D130043K22Rik	A	G	13: 25,047,586 (GRCm39)	Y377C	probably damaging	Het
Dctn1	G	T	6: 83,159,546 (GRCm39)	R8L	possibly damaging	Het
Duox2	T	C	2: 122,111,977 (GRCm39)	Q1341R	probably damaging	Het
Eif2b3	A	G	4: 116,943,919 (GRCm39)	D447G	possibly damaging	Het
Eif4a3l1	C	G	6: 136,306,555 (GRCm39)	R339G	probably damaging	Het
Fbxw25	T	C	9: 109,481,984 (GRCm39)	Y234C	probably benign	Het
Gcnt2	A	G	13: 41,107,076 (GRCm39)	N315S	possibly damaging	Het
Gm20730	A	T	6: 43,058,746 (GRCm39)	V22E	possibly damaging	Het
Gm4847	T	A	1: 166,457,890 (GRCm39)	I488F	probably damaging	Het
Gmds	A	T	13: 32,124,488 (GRCm39)	M290K	probably benign	Het
Gtf3c1	T	C	7: 125,269,716 (GRCm39)	N699S	probably damaging	Het
Hk3	A	G	13: 55,158,984 (GRCm39)	V479A	probably damaging	Het
Ifnlr1	G	A	4: 135,432,877 (GRCm39)	V438M	probably benign	Het
Il12rb1	C	A	8: 71,262,483 (GRCm39)	P26T	probably benign	Het
Il4i1	G	T	7: 44,489,477 (GRCm39)	R414L	possibly damaging	Het
Ipo4	T	C	14: 55,868,327 (GRCm39)	N490S	probably benign	Het
Kcnmb2	A	G	3: 32,252,291 (GRCm39)	E164G	probably damaging	Het
Kcns1	G	A	2: 164,009,899 (GRCm39)	L287F	probably benign	Het
Kdm1a	ACC	AC	4: 136,284,732 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Knl1	T	A	2: 118,899,211 (GRCm39)	I304K	probably damaging	Het
Ksr2	G	T	5: 117,846,175 (GRCm39)	V681F	probably damaging	Het
Lypd2	T	C	15: 74,606,127 (GRCm39)	T4A	probably benign	Het
Man1a	A	G	10: 53,950,576 (GRCm39)	V182A	probably benign	Het
Or12j4	A	T	7: 140,046,720 (GRCm39)	D202V	probably damaging	Het
Or13e8	A	G	4: 43,696,225 (GRCm39)	F316S	possibly damaging	Het
Or2w2	A	T	13: 21,758,042 (GRCm39)	C195S	probably damaging	Het
Or51f5	A	T	7: 102,424,315 (GRCm39)	R195W	probably benign	Het
Or56b1b	T	C	7: 108,164,774 (GRCm39)	D76G	probably benign	Het
Pcdha2	C	A	18: 37,072,562 (GRCm39)	F64L	probably damaging	Het
Pgap3	G	C	11: 98,281,540 (GRCm39)	F168L	possibly damaging	Het
Pip5k1b	T	C	19: 24,416,439 (GRCm39)	N16S	probably benign	Het
Ppip5k1	T	A	2: 121,167,253 (GRCm39)	H41L	probably damaging	Het
Ppp1r9a	A	G	6: 5,159,702 (GRCm39)	R1080G	probably damaging	Het
Qrich2	A	C	11: 116,336,774 (GRCm39)		probably null	Het
Rbl2	C	T	8: 91,842,447 (GRCm39)	P1034L	probably damaging	Het
Rbpjl	GCC	GC	2: 164,256,330 (GRCm39)		probably null	Het
Rin2	A	G	2: 145,702,629 (GRCm39)	S442G	probably damaging	Het
Rtca	C	T	3: 116,293,280 (GRCm39)	R71Q	probably benign	Het
Serpind1	A	T	16: 17,157,902 (GRCm39)	N366I	probably damaging	Het
Shox2	C	G	3: 66,888,796 (GRCm39)	G32R	probably damaging	Het
Sp3	T	A	2: 72,768,466 (GRCm39)	N766Y	probably damaging	Het
Spag7	T	A	11: 70,560,059 (GRCm39)	S17C	probably null	Het
Stk25	A	T	1: 93,563,031 (GRCm39)	F7I	probably benign	Het
Tbx15	G	A	3: 99,259,880 (GRCm39)	G584S	probably benign	Het
Tenm2	T	C	11: 36,755,503 (GRCm39)	D165G	probably benign	Het
Tox2	C	A	2: 163,046,649 (GRCm39)	S42*	probably null	Het
Vmn1r39	A	G	6: 66,781,754 (GRCm39)	V188A	probably damaging	Het
Zbtb5	A	T	4: 44,993,941 (GRCm39)	M481K	probably benign	Het
Zfp26	T	C	9: 20,355,615 (GRCm39)	T56A	possibly damaging	Het
Zfp459	C	A	13: 67,556,498 (GRCm39)	C195F	probably damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfp764	A	G	7: 127,004,105 (GRCm39)	I342T	probably benign	Het
Zfp942	T	C	17: 22,151,985 (GRCm39)	N7D	probably null	Het

Other mutations in Agpat3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Agpat3	APN	10	78,109,516 (GRCm39)	utr 3 prime	probably benign
IGL02621:Agpat3	APN	10	78,120,900 (GRCm39)	missense	probably damaging	1.00
IGL02725:Agpat3	APN	10	78,113,889 (GRCm39)	missense	probably benign	0.02
P0008:Agpat3	UTSW	10	78,123,710 (GRCm39)	missense	probably damaging	1.00
PIT4445001:Agpat3	UTSW	10	78,109,927 (GRCm39)	missense	possibly damaging	0.94
R0041:Agpat3	UTSW	10	78,123,881 (GRCm39)	unclassified	probably benign
R0126:Agpat3	UTSW	10	78,113,890 (GRCm39)	missense	probably null	0.59
R0226:Agpat3	UTSW	10	78,113,863 (GRCm39)	missense	possibly damaging	0.89
R1520:Agpat3	UTSW	10	78,123,857 (GRCm39)	start codon destroyed	probably null	1.00
R2118:Agpat3	UTSW	10	78,113,918 (GRCm39)	missense	probably damaging	1.00
R5599:Agpat3	UTSW	10	78,110,103 (GRCm39)	missense	probably benign	0.39
R6280:Agpat3	UTSW	10	78,120,872 (GRCm39)	missense	probably damaging	1.00
R7528:Agpat3	UTSW	10	78,123,746 (GRCm39)	missense	probably damaging	1.00
R7895:Agpat3	UTSW	10	78,119,034 (GRCm39)	missense	probably benign	0.34
R8351:Agpat3	UTSW	10	78,110,086 (GRCm39)	missense	probably damaging	1.00
R8425:Agpat3	UTSW	10	78,118,211 (GRCm39)	missense	possibly damaging	0.89
R8949:Agpat3	UTSW	10	78,118,989 (GRCm39)	missense	probably benign	0.00
R9136:Agpat3	UTSW	10	78,120,893 (GRCm39)	missense	probably damaging	1.00
X0003:Agpat3	UTSW	10	78,110,007 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCCAAGTCTGCAAAATGG -3'
(R):5'- TACTTTGAGCCAGGAGAAGC -3'

Sequencing Primer
(F):5'- GCTTGCCAAATACGTTAGGC -3'
(R):5'- CTTGAGCCCCTGGTGTG -3'

Posted On

2016-10-05