Mutagenetix > Incidental Mutation

Incidental Mutation 'R0395:Slc2a9'

31926

Institutional Source

Beutler Lab

Gene Symbol

Slc2a9

Ensembl Gene

ENSMUSG00000005107

Gene Name

solute carrier family 2 (facilitated glucose transporter), member 9

Synonyms

Glut9, SLC2A9B, SLC2a9A

MMRRC Submission

038601-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R0395 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38506616-38660486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38610512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 96 (S96P)

Ref Sequence

ENSEMBL: ENSMUSP00000144374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005238] [ENSMUST00000067872] [ENSMUST00000067886] [ENSMUST00000122970] [ENSMUST00000129099] [ENSMUST00000143758] [ENSMUST00000147664] [ENSMUST00000156272] [ENSMUST00000155634]

AlphaFold

Q3T9X0

Predicted Effect

probably benign
Transcript: ENSMUST00000005238
AA Change: S81P

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000005238
Gene: ENSMUSG00000005107
AA Change: S81P

Domain	Start	End	E-Value	Type
Pfam:MFS_1	20	208	3.5e-10	PFAM
Pfam:Sugar_tr	25	188	1.1e-35	PFAM
Pfam:Sugar_tr	191	373	5.3e-39	PFAM
Pfam:MFS_1	196	397	1.2e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000067872
AA Change: S81P

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

SMART Domains

Protein: ENSMUSP00000066872
Gene: ENSMUSG00000005107
AA Change: S81P

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	329	2.2e-16	PFAM
Pfam:Sugar_tr	25	480	2.5e-103	PFAM
Pfam:MFS_1	321	502	3.3e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000067886
AA Change: S96P

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

SMART Domains

Protein: ENSMUSP00000063352
Gene: ENSMUSG00000005107
AA Change: S96P

Domain	Start	End	E-Value	Type
Pfam:MFS_1	37	344	1.7e-16	PFAM
Pfam:Sugar_tr	40	495	9.8e-107	PFAM
Pfam:MFS_1	328	518	1.3e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000122970
AA Change: S96P

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

SMART Domains

Protein: ENSMUSP00000117390
Gene: ENSMUSG00000005107
AA Change: S96P

Domain	Start	End	E-Value	Type
Pfam:MFS_1	28	269	7.5e-14	PFAM
Pfam:Sugar_tr	40	260	2e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000129099
AA Change: S81P

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

SMART Domains

Protein: ENSMUSP00000122723
Gene: ENSMUSG00000005107
AA Change: S81P

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	329	2.2e-16	PFAM
Pfam:Sugar_tr	25	480	2.5e-103	PFAM
Pfam:MFS_1	321	502	3.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143758
AA Change: S96P

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118430
Gene: ENSMUSG00000005107
AA Change: S96P

Domain	Start	End	E-Value	Type
Pfam:MFS_1	37	223	4.2e-10	PFAM
Pfam:Sugar_tr	40	203	1.2e-35	PFAM
Pfam:Sugar_tr	206	388	5.8e-39	PFAM
Pfam:MFS_1	209	411	2.2e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000147664
AA Change: S81P

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

SMART Domains

Protein: ENSMUSP00000119586
Gene: ENSMUSG00000005107
AA Change: S81P

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	25	143	9.8e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000156272
AA Change: S96P

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

SMART Domains

Protein: ENSMUSP00000144374
Gene: ENSMUSG00000005107
AA Change: S96P

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	40	111	4.5e-9	PFAM
transmembrane domain	140	157	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000155634
AA Change: S81P

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

SMART Domains

Protein: ENSMUSP00000116354
Gene: ENSMUSG00000005107
AA Change: S81P

Domain	Start	End	E-Value	Type
Pfam:MFS_1	22	329	2.2e-16	PFAM
Pfam:Sugar_tr	25	480	2.5e-103	PFAM
Pfam:MFS_1	321	502	3.3e-10	PFAM

Meta Mutation Damage Score

0.8350

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 SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show partial prenatal lethality, polydipsia, hyperuricemia, hyperuricosuria and polyuria, and develop urate nephropathy, characterized by obstructive lithiasis, tubulointerstitial inflammation, cortical fibrosis, renal insufficiency and reduced male weight. [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
Slc5a2	A	G	7: 127,866,654 (GRCm39)	Y124C	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 Slc2a9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02232:Slc2a9	APN	5	38,594,013 (GRCm39)	missense	probably benign	0.19
IGL02505:Slc2a9	APN	5	38,594,002 (GRCm39)	missense	possibly damaging	0.69
IGL03096:Slc2a9	APN	5	38,508,572 (GRCm39)	missense	probably damaging	1.00
transporter9	UTSW	5	38,539,387 (GRCm39)	missense	probably damaging	1.00
R0121:Slc2a9	UTSW	5	38,556,086 (GRCm39)	missense	probably benign	0.00
R0599:Slc2a9	UTSW	5	38,637,487 (GRCm39)	start gained	probably benign
R0610:Slc2a9	UTSW	5	38,537,285 (GRCm39)	missense	probably damaging	1.00
R0993:Slc2a9	UTSW	5	38,539,406 (GRCm39)	missense	probably damaging	1.00
R1166:Slc2a9	UTSW	5	38,539,384 (GRCm39)	critical splice donor site	probably null
R1710:Slc2a9	UTSW	5	38,539,387 (GRCm39)	missense	probably damaging	1.00
R2256:Slc2a9	UTSW	5	38,610,542 (GRCm39)	missense	probably damaging	0.96
R2257:Slc2a9	UTSW	5	38,610,542 (GRCm39)	missense	probably damaging	0.96
R4066:Slc2a9	UTSW	5	38,640,692 (GRCm39)	missense	probably benign	0.03
R4193:Slc2a9	UTSW	5	38,556,049 (GRCm39)	missense	probably damaging	1.00
R4502:Slc2a9	UTSW	5	38,556,154 (GRCm39)	missense	probably benign	0.04
R4734:Slc2a9	UTSW	5	38,539,442 (GRCm39)	missense	probably damaging	1.00
R4917:Slc2a9	UTSW	5	38,574,603 (GRCm39)	missense	probably benign	0.01
R5218:Slc2a9	UTSW	5	38,610,524 (GRCm39)	missense	probably damaging	1.00
R5885:Slc2a9	UTSW	5	38,598,017 (GRCm39)	missense	probably damaging	1.00
R6313:Slc2a9	UTSW	5	38,610,464 (GRCm39)	missense	probably benign	0.03
R6983:Slc2a9	UTSW	5	38,549,064 (GRCm39)	missense	probably damaging	1.00
R7173:Slc2a9	UTSW	5	38,610,214 (GRCm39)	splice site	probably null
R7286:Slc2a9	UTSW	5	38,610,538 (GRCm39)	missense	probably damaging	0.99
R7405:Slc2a9	UTSW	5	38,549,167 (GRCm39)	missense	probably damaging	1.00
R7573:Slc2a9	UTSW	5	38,574,569 (GRCm39)	missense	probably damaging	1.00
R7594:Slc2a9	UTSW	5	38,508,634 (GRCm39)	missense	probably benign	0.00
R8212:Slc2a9	UTSW	5	38,637,402 (GRCm39)	missense	probably benign	0.00
R8508:Slc2a9	UTSW	5	38,539,421 (GRCm39)	missense	probably damaging	1.00
R9167:Slc2a9	UTSW	5	38,549,092 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCCTTCATGCAGTGAAGTCTTTCC -3'
(R):5'- GTGTCAAACATGCCAAGAGTGCC -3'

Sequencing Primer
(F):5'- GCAGTGAAGTCTTTCCAGTTAAAC -3'
(R):5'- CAGGCCCTTTGTGTTTTGCA -3'

Posted On

2013-04-24