Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02993:Gpat2'

407037

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gpat2

Ensembl Gene

ENSMUSG00000046338

Gene Name

glycerol-3-phosphate acyltransferase 2, mitochondrial

Synonyms

A530057A03Rik, Gpat2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02993

Quality Score

Status

Chromosome

Chromosomal Location

127267119-127278012 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127269486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 46 (F46S)

Ref Sequence

ENSEMBL: ENSMUSP00000049619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062211]

AlphaFold

Q14DK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000062211
AA Change: F46S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049619
Gene: ENSMUSG00000046338
AA Change: F46S

Domain	Start	End	E-Value	Type
PlsC	199	333	1.45e-11	SMART
Blast:PlsC	347	387	7e-13	BLAST
low complexity region	431	468	N/A	INTRINSIC
low complexity region	515	528	N/A	INTRINSIC
low complexity region	593	613	N/A	INTRINSIC
low complexity region	664	675	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	A	C	3: 121,567,659 (GRCm39)	I434S	probably benign	Het
Actr2	C	T	11: 20,022,514 (GRCm39)	R319Q	probably damaging	Het
Atp13a5	G	T	16: 29,112,322 (GRCm39)	Y606*	probably null	Het
Baiap3	C	T	17: 25,469,056 (GRCm39)		probably null	Het
Cers2	A	G	3: 95,227,396 (GRCm39)	Y8C	probably benign	Het
Ces1g	T	A	8: 94,043,707 (GRCm39)	M411L	probably benign	Het
Chd6	A	G	2: 160,894,304 (GRCm39)		probably benign	Het
Cyp2d40	C	A	15: 82,645,722 (GRCm39)	K94N	probably benign	Het
Ddx51	T	C	5: 110,803,487 (GRCm39)	V323A	possibly damaging	Het
Dock1	G	A	7: 134,346,027 (GRCm39)	V190I	probably benign	Het
Evc2	A	G	5: 37,576,501 (GRCm39)	T1042A	probably benign	Het
Fat4	T	A	3: 39,011,304 (GRCm39)	S2135T	probably damaging	Het
Klhl38	T	A	15: 58,185,851 (GRCm39)	K293*	probably null	Het
Map4k4	T	C	1: 40,053,348 (GRCm39)	I916T	probably damaging	Het
Nrap	T	A	19: 56,333,965 (GRCm39)	K964M	probably damaging	Het
Osbpl5	T	C	7: 143,253,071 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,302,236 (GRCm39)	Q260R	probably benign	Het
Ralgapb	T	A	2: 158,279,314 (GRCm39)	N133K	possibly damaging	Het
Scart2	A	G	7: 139,876,486 (GRCm39)	T537A	probably benign	Het
Slfn9	T	C	11: 82,872,022 (GRCm39)	S905G	probably benign	Het
Spata31g1	T	C	4: 42,971,719 (GRCm39)	Y351H	probably damaging	Het
Ssh2	C	T	11: 77,344,370 (GRCm39)	T785I	probably damaging	Het
Stk16	C	A	1: 75,189,648 (GRCm39)	Q69K	probably damaging	Het
Stk36	T	C	1: 74,661,446 (GRCm39)	L491P	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tcp11	T	C	17: 28,289,490 (GRCm39)	N194D	probably damaging	Het
Trio	C	A	15: 27,830,325 (GRCm39)		probably benign	Het
Ugt2b1	A	G	5: 87,069,850 (GRCm39)	V297A	possibly damaging	Het
Ugt2b5	T	G	5: 87,285,091 (GRCm39)	H282P	probably damaging	Het
Usp53	A	G	3: 122,727,492 (GRCm39)	M1030T	probably damaging	Het
Vmn1r234	T	A	17: 21,449,965 (GRCm39)	I293N	probably damaging	Het
Vmn2r57	T	A	7: 41,077,498 (GRCm39)	T223S	probably benign	Het
Wdr20	G	T	12: 110,760,742 (GRCm39)	E543*	probably null	Het
Zbtb25	T	A	12: 76,396,191 (GRCm39)	N344Y	probably damaging	Het
Zcchc2	T	C	1: 105,957,898 (GRCm39)	F790L	probably damaging	Het

Other mutations in Gpat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Gpat2	APN	2	127,274,316 (GRCm39)	missense	probably benign	0.01
IGL00479:Gpat2	APN	2	127,276,381 (GRCm39)	missense	probably damaging	0.99
IGL01393:Gpat2	APN	2	127,274,571 (GRCm39)	missense	probably damaging	1.00
IGL01759:Gpat2	APN	2	127,272,816 (GRCm39)	missense	possibly damaging	0.94
IGL01764:Gpat2	APN	2	127,269,456 (GRCm39)	missense	probably benign	0.18
IGL02631:Gpat2	APN	2	127,276,152 (GRCm39)	splice site	probably benign
IGL02657:Gpat2	APN	2	127,269,251 (GRCm39)	missense	probably benign	0.04
IGL02813:Gpat2	APN	2	127,276,375 (GRCm39)	missense	possibly damaging	0.90
IGL02873:Gpat2	APN	2	127,273,675 (GRCm39)	missense	probably benign	0.00
Hygroscopic	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
PIT4494001:Gpat2	UTSW	2	127,275,800 (GRCm39)	missense	probably benign	0.00
R0078:Gpat2	UTSW	2	127,270,169 (GRCm39)	missense	probably damaging	1.00
R0230:Gpat2	UTSW	2	127,277,765 (GRCm39)	missense	possibly damaging	0.95
R1619:Gpat2	UTSW	2	127,270,637 (GRCm39)	missense	probably benign	0.00
R1851:Gpat2	UTSW	2	127,276,739 (GRCm39)	missense	possibly damaging	0.77
R1939:Gpat2	UTSW	2	127,277,879 (GRCm39)	makesense	probably null
R2143:Gpat2	UTSW	2	127,275,682 (GRCm39)	missense	probably damaging	1.00
R2165:Gpat2	UTSW	2	127,270,211 (GRCm39)	missense	probably damaging	0.97
R2518:Gpat2	UTSW	2	127,270,211 (GRCm39)	missense	probably damaging	0.97
R3410:Gpat2	UTSW	2	127,270,211 (GRCm39)	missense	probably damaging	0.97
R3411:Gpat2	UTSW	2	127,270,211 (GRCm39)	missense	probably damaging	0.97
R3898:Gpat2	UTSW	2	127,277,018 (GRCm39)	missense	probably damaging	1.00
R4080:Gpat2	UTSW	2	127,275,542 (GRCm39)	missense	probably damaging	0.99
R4725:Gpat2	UTSW	2	127,273,902 (GRCm39)	missense	possibly damaging	0.83
R4841:Gpat2	UTSW	2	127,275,887 (GRCm39)	missense	probably benign	0.10
R5354:Gpat2	UTSW	2	127,270,643 (GRCm39)	missense	probably damaging	1.00
R5941:Gpat2	UTSW	2	127,270,195 (GRCm39)	missense	possibly damaging	0.53
R6362:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6374:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6375:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6377:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6380:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6381:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6382:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6383:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6384:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6393:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6565:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6594:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6595:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6649:Gpat2	UTSW	2	127,274,355 (GRCm39)	missense	possibly damaging	0.81
R6665:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6666:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6667:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6668:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R6669:Gpat2	UTSW	2	127,273,838 (GRCm39)	missense	possibly damaging	0.90
R7031:Gpat2	UTSW	2	127,277,395 (GRCm39)	missense	probably damaging	0.99
R7096:Gpat2	UTSW	2	127,270,209 (GRCm39)	missense	probably benign	0.02
R7307:Gpat2	UTSW	2	127,276,810 (GRCm39)	missense	probably damaging	1.00
R7313:Gpat2	UTSW	2	127,270,215 (GRCm39)	missense	probably damaging	0.99
R7365:Gpat2	UTSW	2	127,268,901 (GRCm39)	splice site	probably null
R8111:Gpat2	UTSW	2	127,275,777 (GRCm39)	missense	probably damaging	1.00
R8113:Gpat2	UTSW	2	127,273,267 (GRCm39)	missense	possibly damaging	0.52
R8729:Gpat2	UTSW	2	127,275,739 (GRCm39)	missense	probably damaging	0.99
R9010:Gpat2	UTSW	2	127,277,146 (GRCm39)	missense	probably benign	0.28
R9146:Gpat2	UTSW	2	127,273,206 (GRCm39)	missense	possibly damaging	0.58
Z1176:Gpat2	UTSW	2	127,275,728 (GRCm39)	missense	probably damaging	1.00
Z1176:Gpat2	UTSW	2	127,272,802 (GRCm39)	missense	probably benign

Posted On

2016-08-02