Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02039:Slc37a2'

184631

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc37a2

Ensembl Gene

ENSMUSG00000032122

Gene Name

solute carrier family 37 (glycerol-3-phosphate transporter), member 2

Synonyms

ci2, Slc37a1, G3PP, cI-2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL02039

Quality Score

Status

Chromosome

Chromosomal Location

37140445-37166709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37144980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 454 (I454T)

Ref Sequence

ENSEMBL: ENSMUSP00000124569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115068] [ENSMUST00000161114]

AlphaFold

Q9WU81

Predicted Effect

probably damaging
Transcript: ENSMUST00000115068
AA Change: I454T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110720
Gene: ENSMUSG00000032122
AA Change: I454T

Domain	Start	End	E-Value	Type
Pfam:MFS_1	23	424	1.2e-40	PFAM
transmembrane domain	431	453	N/A	INTRINSIC
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000161114
AA Change: I454T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124569
Gene: ENSMUSG00000032122
AA Change: I454T

Domain	Start	End	E-Value	Type
Pfam:MFS_1	24	426	1.2e-40	PFAM
transmembrane domain	431	453	N/A	INTRINSIC
transmembrane domain	460	482	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162018

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,247,193 (GRCm39)	Y2313*	probably null	Het
Arhgef12	A	G	9: 42,883,563 (GRCm39)	I1323T	probably benign	Het
C87436	A	G	6: 86,430,677 (GRCm39)	M366V	probably benign	Het
Cep290	T	C	10: 100,350,464 (GRCm39)		probably null	Het
Cpsf3	T	C	12: 21,351,457 (GRCm39)	M326T	probably damaging	Het
Cpxm2	A	G	7: 131,649,482 (GRCm39)	V64A	probably damaging	Het
Csnka2ip	G	A	16: 64,298,957 (GRCm39)	S25F	probably damaging	Het
Cyfip1	T	C	7: 55,524,769 (GRCm39)	F168L	possibly damaging	Het
Dhx8	T	C	11: 101,654,853 (GRCm39)		probably null	Het
Dnah2	T	A	11: 69,390,038 (GRCm39)	I736F	probably damaging	Het
Erf	T	C	7: 24,943,969 (GRCm39)	E454G	possibly damaging	Het
Flnc	T	C	6: 29,450,718 (GRCm39)	V1482A	probably benign	Het
Fmn1	T	C	2: 113,195,425 (GRCm39)	L375P	unknown	Het
Foxm1	T	C	6: 128,346,323 (GRCm39)	Y85H	probably damaging	Het
Frem3	A	G	8: 81,339,600 (GRCm39)	E631G	probably damaging	Het
Fsip1	T	C	2: 118,070,895 (GRCm39)	D265G	probably damaging	Het
Gprc5c	C	T	11: 114,755,312 (GRCm39)	Q330*	probably null	Het
Grin1	C	T	2: 25,195,354 (GRCm39)	V246M	probably damaging	Het
Ifitm3	C	A	7: 140,590,563 (GRCm39)		probably benign	Het
Igdcc3	G	A	9: 65,091,162 (GRCm39)	V648I	probably benign	Het
Ighv5-2	A	G	12: 113,542,214 (GRCm39)	I87T	probably benign	Het
Imp4	G	A	1: 34,482,849 (GRCm39)		probably null	Het
Ino80	T	C	2: 119,210,554 (GRCm39)	N1327D	probably damaging	Het
Kif5a	T	C	10: 127,069,736 (GRCm39)	I830V	possibly damaging	Het
Muc5b	A	G	7: 141,424,901 (GRCm39)	Y4696C	possibly damaging	Het
Nrl	T	C	14: 55,759,567 (GRCm39)	E120G	probably benign	Het
Nsmaf	T	A	4: 6,424,995 (GRCm39)		probably benign	Het
Nup35	T	C	2: 80,473,119 (GRCm39)	M64T	probably benign	Het
Nxpe2	T	A	9: 48,230,959 (GRCm39)	N470I	probably benign	Het
Oga	A	T	19: 45,762,142 (GRCm39)	V237E	probably damaging	Het
Or12d17	T	A	17: 37,777,340 (GRCm39)	I81N	possibly damaging	Het
Or9i1	C	T	19: 13,840,083 (GRCm39)	Q309*	probably null	Het
Os9	G	A	10: 126,932,160 (GRCm39)	P604S	possibly damaging	Het
Pitpnm1	A	G	19: 4,155,032 (GRCm39)	T287A	probably benign	Het
Pkd2l2	G	T	18: 34,568,421 (GRCm39)		probably null	Het
Pola2	A	T	19: 5,998,497 (GRCm39)	I355N	probably damaging	Het
Pp2d1	T	A	17: 53,823,022 (GRCm39)	R15*	probably null	Het
Prpf40a	T	C	2: 53,034,815 (GRCm39)	D749G	probably damaging	Het
Rhoh	T	C	5: 66,049,981 (GRCm39)	S84P	probably damaging	Het
Slc12a7	T	C	13: 73,957,213 (GRCm39)		probably null	Het
Smarca2	A	G	19: 26,693,537 (GRCm39)	D28G	probably damaging	Het
Socs4	T	C	14: 47,527,650 (GRCm39)	I195T	probably benign	Het
Svep1	A	G	4: 58,123,980 (GRCm39)		probably null	Het
Thbd	T	C	2: 148,248,462 (GRCm39)	T469A	probably benign	Het
Thoc5	T	C	11: 4,872,027 (GRCm39)		probably null	Het
Vmn1r173	G	T	7: 23,402,321 (GRCm39)	M185I	probably benign	Het
Vmn1r59	T	C	7: 5,457,380 (GRCm39)	S127G	probably benign	Het
Vmn2r6	T	C	3: 64,463,610 (GRCm39)	E408G	probably damaging	Het
Yars1	A	T	4: 129,109,052 (GRCm39)	I428F	probably damaging	Het
Zglp1	T	C	9: 20,978,335 (GRCm39)	E14G	possibly damaging	Het

Other mutations in Slc37a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01643:Slc37a2	APN	9	37,146,849 (GRCm39)	splice site	probably benign
IGL01719:Slc37a2	APN	9	37,145,474 (GRCm39)	missense	probably damaging	1.00
IGL02286:Slc37a2	APN	9	37,146,455 (GRCm39)	missense	probably damaging	1.00
IGL02951:Slc37a2	APN	9	37,166,611 (GRCm39)	missense	probably benign	0.00
PIT4581001:Slc37a2	UTSW	9	37,148,701 (GRCm39)	missense	probably benign	0.00
R0547:Slc37a2	UTSW	9	37,144,418 (GRCm39)	splice site	probably null
R0689:Slc37a2	UTSW	9	37,146,846 (GRCm39)	splice site	probably benign
R1301:Slc37a2	UTSW	9	37,148,177 (GRCm39)	missense	probably benign	0.05
R3927:Slc37a2	UTSW	9	37,146,803 (GRCm39)	missense	probably damaging	1.00
R4834:Slc37a2	UTSW	9	37,146,404 (GRCm39)	missense	probably damaging	0.97
R5154:Slc37a2	UTSW	9	37,142,939 (GRCm39)	makesense	probably null
R5292:Slc37a2	UTSW	9	37,150,453 (GRCm39)	nonsense	probably null
R6150:Slc37a2	UTSW	9	37,149,643 (GRCm39)	missense	probably damaging	1.00
R6959:Slc37a2	UTSW	9	37,152,630 (GRCm39)	missense	probably benign
R7014:Slc37a2	UTSW	9	37,145,183 (GRCm39)	missense	probably damaging	1.00
R7605:Slc37a2	UTSW	9	37,148,624 (GRCm39)	missense	possibly damaging	0.71
R7974:Slc37a2	UTSW	9	37,150,421 (GRCm39)	splice site	probably null
R8342:Slc37a2	UTSW	9	37,149,510 (GRCm39)	critical splice donor site	probably null
R8419:Slc37a2	UTSW	9	37,148,726 (GRCm39)	missense	probably benign	0.00
R9039:Slc37a2	UTSW	9	37,148,658 (GRCm39)	missense	probably benign
R9314:Slc37a2	UTSW	9	37,150,482 (GRCm39)	missense	possibly damaging	0.49

Posted On

2014-05-07