Mutagenetix > Incidental Mutation

Incidental Mutation 'R7915:Slc5a2'

648017

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

045963-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7915 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127864855-127871602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127864966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 33 (L33Q)

Ref Sequence

ENSEMBL: ENSMUSP00000112597 (fasta)

Gene Model

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

AlphaFold

Q923I7

Predicted Effect

probably benign
Transcript: ENSMUST00000033045

Predicted Effect

probably damaging
Transcript: ENSMUST00000118169
AA Change: L33Q

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112597
Gene: ENSMUSG00000030781
AA Change: L33Q

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: ENSMUST00000137038

SMART Domains

Protein: ENSMUSP00000124318
Gene: ENSMUSG00000030781

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000142841
AA Change: L33Q

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115451
Gene: ENSMUSG00000030781
AA Change: L33Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153418

Predicted Effect

probably damaging
Transcript: ENSMUST00000205720
AA Change: L33Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206703

Predicted Effect

probably benign
Transcript: ENSMUST00000206716

Predicted Effect

probably damaging
Transcript: ENSMUST00000206909
AA Change: L33Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (66/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	G	17: 24,484,507 (GRCm39)	H1585P	probably damaging	Het
Acaca	A	T	11: 84,167,414 (GRCm39)	T1063S	probably benign	Het
Actc1	T	A	2: 113,880,967 (GRCm39)	K86M	probably damaging	Het
Amz1	A	G	5: 140,727,190 (GRCm39)	N51S	probably benign	Het
Arhgap33	G	A	7: 30,222,648 (GRCm39)	P1095S	probably benign	Het
Bicra	T	C	7: 15,722,447 (GRCm39)	T357A	probably benign	Het
C130032M10Rik	A	G	9: 114,345,123 (GRCm39)	R120G	unknown	Het
Cadps	A	G	14: 12,705,544 (GRCm38)	F284L	possibly damaging	Het
Ccdc83	G	A	7: 89,893,290 (GRCm39)	Q156*	probably null	Het
Cdh20	T	A	1: 104,861,898 (GRCm39)	M26K	probably benign	Het
Cdh23	A	G	10: 60,143,668 (GRCm39)	L2979P	probably damaging	Het
Cdhr17	A	G	5: 17,032,012 (GRCm39)	N556D	probably benign	Het
Crocc2	T	C	1: 93,141,363 (GRCm39)	L1172P	probably damaging	Het
Cyp2d10	C	T	15: 82,288,628 (GRCm39)		probably null	Het
Cyp2j9	T	A	4: 96,479,621 (GRCm39)		probably benign	Het
Dgcr2	A	G	16: 17,677,266 (GRCm39)		probably null	Het
Dio3	A	G	12: 110,246,473 (GRCm39)	M270V		Het
Dll1	C	A	17: 15,588,690 (GRCm39)	D662Y	probably damaging	Het
Drd1	G	T	13: 54,207,834 (GRCm39)	P127T	probably damaging	Het
Evc2	T	C	5: 37,544,206 (GRCm39)	S652P	probably damaging	Het
Fam149a	C	A	8: 45,794,280 (GRCm39)	M708I	probably benign	Het
Fam89a	T	C	8: 125,467,895 (GRCm39)	E139G	probably damaging	Het
Gpr141	T	C	13: 19,936,729 (GRCm39)	I15M	probably benign	Het
Hcn4	G	A	9: 58,731,218 (GRCm39)	E142K	unknown	Het
Hivep3	T	A	4: 119,954,962 (GRCm39)	S1093T	possibly damaging	Het
Inpp5f	C	A	7: 128,269,433 (GRCm39)	T261K	probably benign	Het
Ints3	A	T	3: 90,340,132 (GRCm39)	D42E	probably benign	Het
Krt90	A	T	15: 101,466,838 (GRCm39)		probably null	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Lrig1	C	A	6: 94,607,082 (GRCm39)		probably null	Het
Mapk14	A	G	17: 28,947,928 (GRCm39)	T221A	probably benign	Het
Megf10	A	T	18: 57,373,807 (GRCm39)	T202S	probably benign	Het
Neo1	A	T	9: 58,838,264 (GRCm39)	F507I	probably benign	Het
Or7a35	A	G	10: 78,853,264 (GRCm39)	Y36C	probably damaging	Het
Or8b48	A	T	9: 38,492,969 (GRCm39)	Y132F	probably damaging	Het
Or8k37	T	A	2: 86,469,110 (GRCm39)	*314L	probably null	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pkd1	T	A	17: 24,811,630 (GRCm39)	Y3724*	probably null	Het
Plxnd1	T	C	6: 115,943,879 (GRCm39)	D1140G	probably benign	Het
Pramel22	T	C	4: 143,382,315 (GRCm39)	K127R	possibly damaging	Het
Prex1	A	G	2: 166,463,112 (GRCm39)	S250P	probably damaging	Het
Prom1	A	T	5: 44,162,277 (GRCm39)	M777K	possibly damaging	Het
Prrc2c	A	C	1: 162,519,977 (GRCm39)	S2125A	probably benign	Het
Ptpn12	A	G	5: 21,214,449 (GRCm39)	I229T	probably damaging	Het
Ranbp6	A	G	19: 29,790,073 (GRCm39)	V93A	probably benign	Het
Rtn3	A	G	19: 7,434,865 (GRCm39)	C376R	probably benign	Het
Sis	A	C	3: 72,828,471 (GRCm39)	H1201Q	probably damaging	Het
Slc20a1	G	A	2: 129,049,757 (GRCm39)	D340N	probably benign	Het
Slc3a2	G	A	19: 8,685,182 (GRCm39)	R535W	probably damaging	Het
Sltm	G	T	9: 70,494,431 (GRCm39)	R927L	probably damaging	Het
Spaca7b	T	C	8: 11,728,645 (GRCm39)	T9A	possibly damaging	Het
Stat1	A	G	1: 52,190,440 (GRCm39)	D565G	probably benign	Het
Terb1	T	C	8: 105,173,848 (GRCm39)	K745R	possibly damaging	Het
Tescl	T	C	7: 24,033,113 (GRCm39)	I71V	probably damaging	Het
Tgm1	T	C	14: 55,937,883 (GRCm39)	D742G	probably damaging	Het
Tmem128	T	A	5: 38,423,875 (GRCm39)	W30R	probably benign	Het
Tox	T	A	4: 6,822,949 (GRCm39)	M123L	probably benign	Het
Tsnaxip1	A	G	8: 106,569,413 (GRCm39)	S547G	possibly damaging	Het
Ttn	T	A	2: 76,567,539 (GRCm39)	K27785*	probably null	Het
Tut7	T	C	13: 59,932,628 (GRCm39)	I1345V	probably benign	Het
Usp38	A	C	8: 81,727,712 (GRCm39)	S340R	probably damaging	Het
Utrn	A	T	10: 12,340,956 (GRCm39)	H2840Q	probably damaging	Het
Vars2	T	C	17: 35,975,731 (GRCm39)	I229V	probably damaging	Het
Vmn1r16	A	T	6: 57,300,380 (GRCm39)	Y81N	probably damaging	Het
Vmn2r98	A	T	17: 19,287,493 (GRCm39)	D442V	probably benign	Het
Vps13d	T	C	4: 144,813,389 (GRCm39)	I3296V		Het
Wwtr1	A	G	3: 57,483,020 (GRCm39)		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
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
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
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'- CCTTCGGCCTTGATAGATCCTG -3'
(R):5'- TGCACAATCCAGAAGGTACG -3'

Sequencing Primer
(F):5'- CGGCCTTGATAGATCCTGATTCAG -3'
(R):5'- GCACAATCCAGAAGGTACGAAGAC -3'

Posted On

2020-09-15