Mutagenetix > Incidental Mutation

Incidental Mutation 'R1383:Slc5a2'

163132

Institutional Source

Beutler Lab

Gene Symbol

Slc5a2

Ensembl Gene

ENSMUSG00000030781

Gene Name

solute carrier family 5 (sodium/glucose cotransporter), member 2

Synonyms

Sglt2

MMRRC Submission

039445-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1383 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127864855-127871602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 127869803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 412 (R412P)

Ref Sequence

ENSEMBL: ENSMUSP00000112597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033044] [ENSMUST00000033045] [ENSMUST00000118169] [ENSMUST00000126263] [ENSMUST00000137038] [ENSMUST00000142841] [ENSMUST00000205720] [ENSMUST00000206909] [ENSMUST00000153418]

AlphaFold

Q923I7

Predicted Effect

probably benign
Transcript: ENSMUST00000033044

SMART Domains

Protein: ENSMUSP00000033044
Gene: ENSMUSG00000030780

Domain	Start	End	E-Value	Type
Pfam:DUF647	62	301	5.6e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000033045

Predicted Effect

probably damaging
Transcript: ENSMUST00000118169
AA Change: R412P

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

SMART Domains

Protein: ENSMUSP00000112597
Gene: ENSMUSG00000030781
AA Change: R412P

Domain	Start	End	E-Value	Type
Pfam:SSF	53	490	7e-170	PFAM
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	566	577	N/A	INTRINSIC
low complexity region	615	635	N/A	INTRINSIC
transmembrane domain	650	669	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126263

SMART Domains

Protein: ENSMUSP00000114673
Gene: ENSMUSG00000030780

Domain	Start	End	E-Value	Type
Pfam:DUF647	61	304	3e-102	PFAM
low complexity region	334	347	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136345

Predicted Effect

probably benign
Transcript: ENSMUST00000137038

SMART Domains

Protein: ENSMUSP00000124318
Gene: ENSMUSG00000030781

Domain	Start	End	E-Value	Type
Pfam:SSF	1	103	3.3e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142841

SMART Domains

Protein: ENSMUSP00000115451
Gene: ENSMUSG00000030781

Domain	Start	End	E-Value	Type
Pfam:SSF	53	276	5.7e-81	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000206716
AA Change: R195P

Predicted Effect

unknown
Transcript: ENSMUST00000206703
AA Change: R19P

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154003

Predicted Effect

probably benign
Transcript: ENSMUST00000205720

Predicted Effect

probably benign
Transcript: ENSMUST00000206909

Predicted Effect

probably benign
Transcript: ENSMUST00000153418

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146735

Meta Mutation Damage Score

0.9202

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit increased urine glucose, increased eating and drinking behaviors, increased circulating renin activity, decreased urine osmolality, decreased serum aldosterone levels, polyuria, and decreased glucose renal reabsorption. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asph	T	A	4: 9,537,807 (GRCm39)		probably null	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Eef1akmt1	A	G	14: 57,795,489 (GRCm39)		probably null	Het
Ext2	T	C	2: 93,636,458 (GRCm39)	T219A	possibly damaging	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Fat2	G	A	11: 55,201,599 (GRCm39)	H492Y	probably benign	Het
Glyr1	GCTGCC	G	16: 4,839,209 (GRCm39)		probably null	Het
Kcmf1	A	G	6: 72,826,565 (GRCm39)	F155L	possibly damaging	Het
Miox	G	A	15: 89,219,245 (GRCm39)	R29Q	probably damaging	Het
Mmrn1	A	G	6: 60,953,306 (GRCm39)	Y529C	probably damaging	Het
Msmo1	G	A	8: 65,176,679 (GRCm39)	T116I	probably benign	Het
Or4c12	A	T	2: 89,773,895 (GRCm39)	M188K	probably benign	Het
Or5aq1b	A	G	2: 86,902,136 (GRCm39)	L114P	probably damaging	Het
Or8g2	A	T	9: 39,821,160 (GRCm39)	K20N	probably benign	Het
Or8k40	C	T	2: 86,584,838 (GRCm39)	M81I	possibly damaging	Het
Ptpn6	A	G	6: 124,698,856 (GRCm39)	I486T	probably damaging	Het
Slc12a8	T	C	16: 33,355,357 (GRCm39)	F58L	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Snrnp200	T	C	2: 127,060,331 (GRCm39)	I525T	probably benign	Het
Spopfm1	A	G	3: 94,173,102 (GRCm39)	M37V	probably benign	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Znrf3	G	C	11: 5,231,994 (GRCm39)	F410L	probably damaging	Het

Other mutations in Slc5a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Slc5a2	APN	7	127,869,794 (GRCm39)	missense	probably benign	0.07
IGL03084:Slc5a2	APN	7	127,865,776 (GRCm39)	missense	probably benign	0.25
dregs	UTSW	7	127,866,677 (GRCm39)	splice site	probably null
jimbee	UTSW	7	0 ()	large deletion
R0026:Slc5a2	UTSW	7	127,869,225 (GRCm39)	missense	probably damaging	1.00
R0395:Slc5a2	UTSW	7	127,866,654 (GRCm39)	missense	probably damaging	1.00
R0544:Slc5a2	UTSW	7	127,869,171 (GRCm39)	missense	probably damaging	1.00
R0762:Slc5a2	UTSW	7	127,866,654 (GRCm39)	missense	probably damaging	1.00
R0966:Slc5a2	UTSW	7	127,869,803 (GRCm39)	missense	probably damaging	1.00
R0968:Slc5a2	UTSW	7	127,869,803 (GRCm39)	missense	probably damaging	1.00
R1382:Slc5a2	UTSW	7	127,869,803 (GRCm39)	missense	probably damaging	1.00
R1385:Slc5a2	UTSW	7	127,869,803 (GRCm39)	missense	probably damaging	1.00
R1467:Slc5a2	UTSW	7	127,870,428 (GRCm39)	unclassified	probably benign
R4836:Slc5a2	UTSW	7	127,866,677 (GRCm39)	splice site	probably null
R4983:Slc5a2	UTSW	7	127,870,982 (GRCm39)	makesense	probably null
R5703:Slc5a2	UTSW	7	127,869,787 (GRCm39)	missense	possibly damaging	0.77
R6185:Slc5a2	UTSW	7	127,870,349 (GRCm39)	missense	probably damaging	0.98
R6696:Slc5a2	UTSW	7	127,869,215 (GRCm39)	missense	probably damaging	1.00
R6969:Slc5a2	UTSW	7	127,871,249 (GRCm39)	missense	probably benign	0.00
R7062:Slc5a2	UTSW	7	127,869,212 (GRCm39)	missense	probably damaging	0.99
R7576:Slc5a2	UTSW	7	127,864,977 (GRCm39)	missense	probably damaging	1.00
R7747:Slc5a2	UTSW	7	127,865,567 (GRCm39)	splice site	probably null
R7802:Slc5a2	UTSW	7	127,870,970 (GRCm39)	missense	possibly damaging	0.80
R7915:Slc5a2	UTSW	7	127,864,966 (GRCm39)	missense	probably damaging	0.96
R8027:Slc5a2	UTSW	7	127,869,718 (GRCm39)	missense	probably damaging	1.00
R8194:Slc5a2	UTSW	7	127,870,328 (GRCm39)	missense	probably benign	0.33
R8710:Slc5a2	UTSW	7	127,864,966 (GRCm39)	missense	probably damaging	0.96
R9210:Slc5a2	UTSW	7	127,867,939 (GRCm39)	missense	probably damaging	1.00
R9212:Slc5a2	UTSW	7	127,867,939 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGCTGGAAATGGATTGCCCTTG -3'
(R):5'- GAATGTAATCGAAGAGCTGCCCACC -3'

Sequencing Primer
(F):5'- GGAGGGTCACCTCACCAAC -3'
(R):5'- TGAGCTGCCTGCACCAC -3'

Posted On

2014-03-17