Mutagenetix > Incidental Mutation

Incidental Mutation 'R3927:Slc37a2'

308333

Institutional Source

Beutler Lab

Gene Symbol

Slc37a2

Ensembl Gene

ENSMUSG00000032122

Gene Name

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

Synonyms

ci2, Slc37a1, G3PP, cI-2

MMRRC Submission

040822-MU

Accession Numbers

Essential gene?

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

Stock #

R3927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37140445-37166709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37146803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 338 (T338M)

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: T338M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110720
Gene: ENSMUSG00000032122
AA Change: T338M

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: T338M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124569
Gene: ENSMUSG00000032122
AA Change: T338M

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.5%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	G	2: 103,538,563 (GRCm39)		probably null	Het
Alpk1	T	C	3: 127,471,365 (GRCm39)	H1039R	probably damaging	Het
Avpr1a	A	G	10: 122,285,616 (GRCm39)	S303G	probably benign	Het
Axdnd1	A	G	1: 156,246,840 (GRCm39)	L79S	probably damaging	Het
Baz1a	A	G	12: 54,967,928 (GRCm39)	I667T	possibly damaging	Het
Bend5	A	G	4: 111,305,802 (GRCm39)	Y282C	possibly damaging	Het
Clstn3	T	C	6: 124,428,327 (GRCm39)	D438G	probably damaging	Het
Cog3	A	G	14: 75,980,998 (GRCm39)		probably benign	Het
Cyp2j6	T	C	4: 96,441,525 (GRCm39)	N55S	probably benign	Het
Eif4b	G	A	15: 101,992,745 (GRCm39)	G101R	probably damaging	Het
Epha2	T	C	4: 141,033,861 (GRCm39)	L40P	probably damaging	Het
Fig4	A	G	10: 41,139,135 (GRCm39)	V356A	probably benign	Het
Hal	T	C	10: 93,349,888 (GRCm39)		probably benign	Het
Helz	A	G	11: 107,576,118 (GRCm39)	Y1770C	unknown	Het
Meis3	A	G	7: 15,911,419 (GRCm39)	T39A	probably benign	Het
Nod1	G	T	6: 54,921,902 (GRCm39)	R139S	probably benign	Het
Or6n2	A	T	1: 173,896,878 (GRCm39)	N5Y	probably damaging	Het
Pacsin3	C	T	2: 91,093,286 (GRCm39)		probably null	Het
Plekhh1	T	A	12: 79,100,422 (GRCm39)	I130N	probably damaging	Het
Plxna2	G	A	1: 194,428,465 (GRCm39)	E512K	probably benign	Het
Ppp1r9a	A	G	6: 5,057,531 (GRCm39)	I215M	probably damaging	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Sap130	A	T	18: 31,807,435 (GRCm39)	H414L	possibly damaging	Het
Slc33a1	A	G	3: 63,871,145 (GRCm39)	I156T	probably benign	Het
Spinkl	T	A	18: 44,302,230 (GRCm39)		probably null	Het
Tmc5	T	A	7: 118,251,878 (GRCm39)	L657*	probably null	Het
Tmem217	A	G	17: 29,745,677 (GRCm39)	S18P	probably damaging	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Tubb4a	A	G	17: 57,387,967 (GRCm39)	V353A	probably benign	Het
Ube3b	T	C	5: 114,553,741 (GRCm39)	F974L	probably benign	Het
Ubqln5	A	G	7: 103,777,678 (GRCm39)	L382P	probably damaging	Het
Ufsp2	T	A	8: 46,436,723 (GRCm39)		probably null	Het
Unkl	C	T	17: 25,448,303 (GRCm39)	T66I	probably damaging	Het
Xrn2	T	A	2: 146,880,109 (GRCm39)	N477K	probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zzef1	T	C	11: 72,749,208 (GRCm39)	S899P	probably damaging	Het
Zzz3	T	C	3: 152,161,499 (GRCm39)	Y298H	probably 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
IGL02039:Slc37a2	APN	9	37,144,980 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- GCAATGATCACTTTTCTTAGGCCC -3'
(R):5'- TGTCAGGCTGCTGCAAACTC -3'

Sequencing Primer
(F):5'- TTAGGCCCACCCAGTCTAG -3'
(R):5'- AAACTCACCTGGTGGCTCTAG -3'

Posted On

2015-04-17