Mutagenetix > Incidental Mutation

Incidental Mutation 'R0395:Slc5a2'

31945

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

038601-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0395 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

127864855-127871602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127866654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 124 (Y124C)

Ref Sequence

ENSEMBL: ENSMUSP00000145739 (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
AA Change: Y107C

PolyPhen 2 Score 0.284 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably damaging
Transcript: ENSMUST00000118169
AA Change: Y148C

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

SMART Domains

Protein: ENSMUSP00000112597
Gene: ENSMUSG00000030781
AA Change: Y148C

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 damaging
Transcript: ENSMUST00000137038
AA Change: Y31C

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

SMART Domains

Protein: ENSMUSP00000124318
Gene: ENSMUSG00000030781
AA Change: Y31C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000142841
AA Change: Y144C

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

SMART Domains

Protein: ENSMUSP00000115451
Gene: ENSMUSG00000030781
AA Change: Y144C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000205720
AA Change: Y148C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000206909
AA Change: Y124C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155177

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146735

Predicted Effect

probably benign
Transcript: ENSMUST00000206703

Predicted Effect

probably benign
Transcript: ENSMUST00000153418

Predicted Effect

probably benign
Transcript: ENSMUST00000206716

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154003

Meta Mutation Damage Score

0.8169

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 91.4%

Validation Efficiency

98% (103/105)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	C	13: 59,837,470 (GRCm39)	K205R	possibly damaging	Het
9630041A04Rik	A	T	9: 101,819,934 (GRCm39)	N118I	probably damaging	Het
AAdacl4fm3	A	G	4: 144,429,765 (GRCm39)	V408A	probably benign	Het
Acsm2	G	A	7: 119,174,969 (GRCm39)	D245N	probably damaging	Het
Adgrv1	A	T	13: 81,534,072 (GRCm39)	H5836Q	probably benign	Het
Ahcyl2	T	C	6: 29,886,167 (GRCm39)	V391A	probably damaging	Het
Alcam	A	T	16: 52,130,227 (GRCm39)	M41K	probably benign	Het
Aldh3b3	A	C	19: 4,016,472 (GRCm39)	E363D	probably benign	Het
Alk	A	G	17: 72,910,526 (GRCm39)	V60A	probably damaging	Het
Als2cl	G	A	9: 110,727,152 (GRCm39)	R906H	probably damaging	Het
Ap5z1	T	C	5: 142,456,317 (GRCm39)		probably benign	Het
Apba2	T	A	7: 64,393,156 (GRCm39)	I547N	probably benign	Het
Apol10b	A	T	15: 77,469,840 (GRCm39)	D112E	probably damaging	Het
Ash1l	C	A	3: 88,965,896 (GRCm39)	R2433S	probably damaging	Het
Cachd1	T	C	4: 100,810,402 (GRCm39)	F335L	probably damaging	Het
Cbfa2t3	G	T	8: 123,365,690 (GRCm39)	Q181K	probably benign	Het
Cct6b	A	G	11: 82,630,506 (GRCm39)	M265T	probably benign	Het
Cd151	G	A	7: 141,050,304 (GRCm39)	V180I	probably damaging	Het
Ces1h	T	A	8: 94,083,706 (GRCm39)	N412I	unknown	Het
Chmp7	T	C	14: 69,969,905 (GRCm39)	T12A	probably benign	Het
Clasp1	A	G	1: 118,467,061 (GRCm39)	T534A	possibly damaging	Het
Cldn15	T	A	5: 136,997,052 (GRCm39)	V31E	possibly damaging	Het
Col16a1	G	A	4: 129,966,902 (GRCm39)	G583D	probably damaging	Het
Csmd1	T	C	8: 16,396,652 (GRCm39)	N426S	probably damaging	Het
Dapp1	C	T	3: 137,641,398 (GRCm39)	C199Y	possibly damaging	Het
Dchs1	A	G	7: 105,407,745 (GRCm39)	L2029P	probably damaging	Het
Dmc1	A	G	15: 79,472,973 (GRCm39)	F158S	probably damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Dthd1	T	A	5: 62,971,676 (GRCm39)	N166K	possibly damaging	Het
Enam	A	T	5: 88,649,367 (GRCm39)	Y292F	probably damaging	Het
Esrrg	A	T	1: 187,930,832 (GRCm39)	I285F	probably damaging	Het
Fam50b	A	G	13: 34,931,220 (GRCm39)	D232G	probably damaging	Het
Fam91a1	T	A	15: 58,326,641 (GRCm39)	S792T	probably benign	Het
Fbxw22	A	C	9: 109,210,753 (GRCm39)	C419W	probably damaging	Het
Flt4	G	A	11: 49,521,170 (GRCm39)	S393N	probably benign	Het
Fras1	A	T	5: 96,917,512 (GRCm39)	T3511S	possibly damaging	Het
Frat2	A	C	19: 41,836,263 (GRCm39)	S30A	probably damaging	Het
Glp1r	T	A	17: 31,155,312 (GRCm39)	M433K	probably benign	Het
Gm10300	G	A	4: 131,802,299 (GRCm39)		probably benign	Het
Gpatch4	A	G	3: 87,961,661 (GRCm39)		probably benign	Het
Gpr22	A	T	12: 31,759,461 (GRCm39)	S220R	possibly damaging	Het
Grn	T	C	11: 102,327,049 (GRCm39)	V549A	probably benign	Het
Gtf3c5	T	C	2: 28,467,930 (GRCm39)	D177G	probably damaging	Het
Htr1b	A	T	9: 81,513,704 (GRCm39)	M301K	probably benign	Het
Ifi207	A	T	1: 173,557,431 (GRCm39)	S436T	possibly damaging	Het
Ifnb1	A	T	4: 88,440,766 (GRCm39)	N82K	possibly damaging	Het
Ina	T	G	19: 47,010,358 (GRCm39)	N384K	probably damaging	Het
Kirrel2	T	C	7: 30,149,883 (GRCm39)	N541D	possibly damaging	Het
Lrp2	A	T	2: 69,263,421 (GRCm39)	I4377N	possibly damaging	Het
Lrrc37a	A	G	11: 103,355,221 (GRCm39)	V2532A	unknown	Het
Mast4	T	C	13: 102,871,781 (GRCm39)	E2529G	probably damaging	Het
Myh6	T	C	14: 55,183,777 (GRCm39)	H1719R	possibly damaging	Het
Myo5a	A	T	9: 75,101,259 (GRCm39)	H150L	probably benign	Het
Naglu	C	T	11: 100,964,933 (GRCm39)		probably benign	Het
Nags	G	A	11: 102,036,530 (GRCm39)	A40T	unknown	Het
Nav1	G	T	1: 135,460,359 (GRCm39)	Y321*	probably null	Het
Nav1	A	T	1: 135,460,361 (GRCm39)	Y321N	probably damaging	Het
Neu3	C	T	7: 99,462,985 (GRCm39)	S246N	probably benign	Het
Npy5r	C	T	8: 67,134,625 (GRCm39)	G56D	probably benign	Het
Nrxn1	A	G	17: 91,395,742 (GRCm39)	V138A	possibly damaging	Het
Nuggc	C	T	14: 65,850,921 (GRCm39)	Q264*	probably null	Het
Ogfod1	G	A	8: 94,790,156 (GRCm39)		probably null	Het
Or1o11	T	A	17: 37,756,757 (GRCm39)	F115Y	probably damaging	Het
Or2t45	A	T	11: 58,669,195 (GRCm39)	M81L	probably benign	Het
Or5b101	A	G	19: 13,005,663 (GRCm39)	F10S	probably damaging	Het
Or5p66	A	G	7: 107,885,478 (GRCm39)	V285A	probably benign	Het
Per1	T	A	11: 68,993,103 (GRCm39)	I340N	probably damaging	Het
Pkhd1	C	T	1: 20,451,771 (GRCm39)	A2175T	probably benign	Het
Pogk	A	G	1: 166,231,171 (GRCm39)	V52A	probably damaging	Het
Pou2af3	C	T	9: 51,191,834 (GRCm39)		probably benign	Het
Ppib	A	T	9: 65,973,601 (GRCm39)	T185S	possibly damaging	Het
Ptar1	G	T	19: 23,697,563 (GRCm39)	M358I	probably damaging	Het
Qser1	A	C	2: 104,593,226 (GRCm39)	I1597S	probably damaging	Het
Ranbp17	T	C	11: 33,424,896 (GRCm39)	I487V	probably benign	Het
Repin1	C	A	6: 48,574,459 (GRCm39)	R460S	probably damaging	Het
Sfmbt1	T	C	14: 30,509,574 (GRCm39)		probably benign	Het
Sh3rf1	C	T	8: 61,846,696 (GRCm39)		probably benign	Het
Shroom3	C	T	5: 92,928,762 (GRCm39)	R106C	probably damaging	Het
Siglecf	T	A	7: 43,005,399 (GRCm39)	V453D	probably damaging	Het
Slc2a9	A	G	5: 38,610,512 (GRCm39)	S96P	probably damaging	Het
Slf1	A	G	13: 77,254,088 (GRCm39)		probably benign	Het
Smad1	T	G	8: 80,076,411 (GRCm39)	K269T	probably benign	Het
Srp54b	G	A	12: 55,296,884 (GRCm39)	R194H	probably damaging	Het
St8sia6	T	A	2: 13,670,247 (GRCm39)	S238C	probably damaging	Het
Stat3	A	T	11: 100,780,763 (GRCm39)		probably benign	Het
Tafa2	A	T	10: 123,429,497 (GRCm39)	H37L	probably benign	Het
Tas1r2	T	A	4: 139,382,665 (GRCm39)	M101K	possibly damaging	Het
Tesc	A	G	5: 118,191,647 (GRCm39)		probably null	Het
Tle3	T	A	9: 61,317,353 (GRCm39)	M334K	probably damaging	Het
Tmem151a	A	T	19: 5,132,261 (GRCm39)	V315E	probably damaging	Het
Tmprss2	T	C	16: 97,368,245 (GRCm39)	D480G	probably damaging	Het
Trmt1	C	A	8: 85,423,741 (GRCm39)		probably null	Het
Tsr3	T	C	17: 25,461,198 (GRCm39)		probably null	Het
Ube2u	A	G	4: 100,338,845 (GRCm39)	K37E	probably benign	Het
Usp16	T	A	16: 87,272,334 (GRCm39)	D382E	probably damaging	Het
Usp9y	A	T	Y: 1,340,053 (GRCm39)	F1442Y	probably damaging	Het
Utp20	A	T	10: 88,654,457 (GRCm39)	M210K	probably damaging	Het
Utp25	T	C	1: 192,805,984 (GRCm39)	E187G	possibly damaging	Het
V1ra8	C	T	6: 90,179,991 (GRCm39)	L65F	possibly damaging	Het
Vmn2r10	T	C	5: 109,149,859 (GRCm39)	N395S	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zfp330	G	A	8: 83,491,511 (GRCm39)	Q221*	probably null	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
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
R1383: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'- GTTCATTTGCTGGAGAGACAGGGAG -3'
(R):5'- TGTACCCACAGCTTGGAGACTTGC -3'

Sequencing Primer
(F):5'- GGAAGATGTCAAGATTCTTTCCC -3'
(R):5'- GAGACTTGCTCTTTCCAGGC -3'

Posted On

2013-04-24