Mutagenetix > Incidental Mutation

Incidental Mutation 'R8425:Agpat3'

653423

Institutional Source

Beutler Lab

Gene Symbol

Agpat3

Ensembl Gene

ENSMUSG00000001211

Gene Name

1-acylglycerol-3-phosphate O-acyltransferase 3

Synonyms

D10Jhu12e, LPAAT3

MMRRC Submission

067819-MU

Accession Numbers

Essential gene?

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

Stock #

R8425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78105012-78188323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78118211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 255 (V255E)

Ref Sequence

ENSEMBL: ENSMUSP00000001240 (fasta)

Gene Model

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

AlphaFold

Q9D517

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001240
AA Change: V255E

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000001240
Gene: ENSMUSG00000001211
AA Change: V255E

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: V255E

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101026
Gene: ENSMUSG00000001211
AA Change: V255E

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: V255E

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101027
Gene: ENSMUSG00000001211
AA Change: V255E

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: V255E

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101028
Gene: ENSMUSG00000001211
AA Change: V255E

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: V255E

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101029
Gene: ENSMUSG00000001211
AA Change: V255E

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: 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

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166360
AA Change: V255E

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132954
Gene: ENSMUSG00000001211
AA Change: V255E

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

probably benign
Transcript: ENSMUST00000219932

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,324,745 (GRCm39)	E92G	possibly damaging	Het
Aasdh	A	T	5: 77,034,124 (GRCm39)	Y476N	possibly damaging	Het
Abca13	G	T	11: 9,264,623 (GRCm39)	V3002F	possibly damaging	Het
Adam23	C	T	1: 63,624,536 (GRCm39)	T788I	probably damaging	Het
Adgrb2	A	G	4: 129,898,850 (GRCm39)	T282A	possibly damaging	Het
Adgrg1	T	C	8: 95,735,035 (GRCm39)	Y402H	probably damaging	Het
Agpat2	A	T	2: 26,483,666 (GRCm39)	L257Q	probably benign	Het
Akap6	A	G	12: 52,933,404 (GRCm39)	I299V	probably benign	Het
Anapc1	A	T	2: 128,511,788 (GRCm39)	F468L	probably damaging	Het
Apob	T	A	12: 8,038,842 (GRCm39)	N431K	possibly damaging	Het
Asprv1	T	A	6: 86,605,851 (GRCm39)	D232E	probably benign	Het
AW209491	A	G	13: 14,811,921 (GRCm39)	Y258C	probably damaging	Het
Bach2	C	T	4: 32,562,316 (GRCm39)	P261L	probably benign	Het
Cap2	T	A	13: 46,763,208 (GRCm39)	I146K	probably damaging	Het
Catsperb	A	T	12: 101,569,028 (GRCm39)	Q900L	probably benign	Het
Ccdc187	A	T	2: 26,171,548 (GRCm39)	V310D	probably damaging	Het
Cenpe	G	T	3: 134,948,388 (GRCm39)	G1275*	probably null	Het
Chd8	C	T	14: 52,448,012 (GRCm39)	G1663D	probably damaging	Het
Col6a5	T	A	9: 105,823,156 (GRCm39)	Y67F	unknown	Het
Cuzd1	G	T	7: 130,919,720 (GRCm39)	T132K	possibly damaging	Het
Ddr2	T	A	1: 169,863,585 (GRCm39)		probably benign	Het
Ddx42	T	C	11: 106,138,550 (GRCm39)	I783T	probably benign	Het
Dennd4a	T	A	9: 64,746,256 (GRCm39)	D47E	probably damaging	Het
Dvl2	T	G	11: 69,898,673 (GRCm39)	W379G	probably damaging	Het
Ehbp1	A	G	11: 21,963,495 (GRCm39)	L1160P	probably damaging	Het
Eml6	A	G	11: 29,705,008 (GRCm39)	V1512A	probably benign	Het
Ephb6	T	C	6: 41,595,580 (GRCm39)	S780P	probably damaging	Het
Exo5	G	A	4: 120,779,560 (GRCm39)	L102F	probably benign	Het
Fam220a	A	T	5: 143,548,594 (GRCm39)	K2M	possibly damaging	Het
Fanci	A	T	7: 79,083,289 (GRCm39)	I731L	probably benign	Het
Gbp8	A	G	5: 105,165,640 (GRCm39)	S338P	probably damaging	Het
H2-M11	T	C	17: 36,859,649 (GRCm39)	I214T	probably benign	Het
Hhatl	C	A	9: 121,618,168 (GRCm39)	A196S	probably benign	Het
Hspg2	C	A	4: 137,278,178 (GRCm39)	C2988*	probably null	Het
Ifi213	A	G	1: 173,417,426 (GRCm39)	S329P	probably benign	Het
Lingo3	G	T	10: 80,670,816 (GRCm39)	F371L	probably benign	Het
Maml2	C	T	9: 13,531,413 (GRCm39)	T209I		Het
Ndufaf3	T	C	9: 108,444,182 (GRCm39)		probably benign	Het
Nfatc2	C	T	2: 168,378,216 (GRCm39)	G483E	probably damaging	Het
Npy6r	A	C	18: 44,409,070 (GRCm39)	T164P	probably benign	Het
Omg	T	C	11: 79,392,826 (GRCm39)	E344G	possibly damaging	Het
Or2g25	T	A	17: 37,970,975 (GRCm39)	N83I	probably damaging	Het
Or2h15	T	C	17: 38,441,927 (GRCm39)	D52G	possibly damaging	Het
Or4c116	T	A	2: 88,942,737 (GRCm39)	N40Y	probably damaging	Het
Or52n20	A	G	7: 104,320,502 (GRCm39)	N198D	probably damaging	Het
Or5k1	A	G	16: 58,617,966 (GRCm39)	M81T	probably benign	Het
Or9i1	T	C	19: 13,839,849 (GRCm39)	S231P	probably benign	Het
P2rx7	A	G	5: 122,808,521 (GRCm39)	E301G	probably damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pkhd1l1	T	C	15: 44,437,911 (GRCm39)	S3569P	probably benign	Het
Pkn3	G	A	2: 29,976,513 (GRCm39)		probably null	Het
Proc	C	T	18: 32,256,411 (GRCm39)	V419M	probably damaging	Het
Prss37	C	T	6: 40,493,052 (GRCm39)	W138*	probably null	Het
Prss52	T	A	14: 64,350,009 (GRCm39)	L212*	probably null	Het
Rnps1	A	G	17: 24,637,143 (GRCm39)	K8E	unknown	Het
Rpf2	A	T	10: 40,101,429 (GRCm39)	L202*	probably null	Het
Saraf	C	T	8: 34,632,602 (GRCm39)	P227L	probably benign	Het
Serpinb5	T	A	1: 106,809,515 (GRCm39)	M307K	possibly damaging	Het
Slc46a1	T	C	11: 78,359,471 (GRCm39)	S368P	possibly damaging	Het
Slc49a4	A	T	16: 35,555,967 (GRCm39)	N164K	probably benign	Het
Slfn8	T	A	11: 82,895,441 (GRCm39)	Q455L	possibly damaging	Het
Sv2b	A	G	7: 74,767,347 (GRCm39)	M683T	probably damaging	Het
Tacc3	G	T	5: 33,821,874 (GRCm39)	L211F	unknown	Het
Tbc1d8	A	G	1: 39,420,490 (GRCm39)	V681A	probably damaging	Het
Tbkbp1	T	C	11: 97,029,677 (GRCm39)	E493G	unknown	Het
Th	A	T	7: 142,447,823 (GRCm39)	V420E	possibly damaging	Het
Tmem132c	T	G	5: 127,641,421 (GRCm39)	V115G		Het
Usp40	G	A	1: 87,887,558 (GRCm39)	R915C	probably benign	Het
Wdr81	T	A	11: 75,342,348 (GRCm39)	H973L	possibly damaging	Het
Zdhhc6	A	G	19: 55,302,876 (GRCm39)	S42P	probably benign	Het
Zfp369	T	A	13: 65,444,489 (GRCm39)	I544N	possibly damaging	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
R5493:Agpat3	UTSW	10	78,120,069 (GRCm39)	missense	possibly damaging	0.89
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
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'- GTTCACCAGATGTGTGACTGC -3'
(R):5'- TGGTGACGTCACTGCTGTAG -3'

Sequencing Primer
(F):5'- CAACTGACTCTAGCCAGATTTGGG -3'
(R):5'- ACGTCACTGCTGTAGAGTGTTTCC -3'

Posted On

2020-10-20