Mutagenetix > Incidental Mutation

Incidental Mutation 'R4193:Slc2a9'

318399

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

041024-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4193 (G1)

Quality Score

138

Status

Not validated

Chromosome

Chromosomal Location

38506616-38660486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38556049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 299 (N299S)

Ref Sequence

ENSEMBL: ENSMUSP00000116354 (fasta)

Gene Model

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

AlphaFold

Q3T9X0

Predicted Effect

probably benign
Transcript: ENSMUST00000005238

SMART Domains

Protein: ENSMUSP00000005238
Gene: ENSMUSG00000005107

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: N299S

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

SMART Domains

Protein: ENSMUSP00000066872
Gene: ENSMUSG00000005107
AA Change: N299S

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: N314S

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

SMART Domains

Protein: ENSMUSP00000063352
Gene: ENSMUSG00000005107
AA Change: N314S

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 benign
Transcript: ENSMUST00000122970

SMART Domains

Protein: ENSMUSP00000117390
Gene: ENSMUSG00000005107

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: N299S

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

SMART Domains

Protein: ENSMUSP00000122723
Gene: ENSMUSG00000005107
AA Change: N299S

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

SMART Domains

Protein: ENSMUSP00000118430
Gene: ENSMUSG00000005107

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: ENSMUST00000155634
AA Change: N299S

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

SMART Domains

Protein: ENSMUSP00000116354
Gene: ENSMUSG00000005107
AA Change: N299S

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: ENSMUST00000156272

SMART Domains

Protein: ENSMUSP00000144374
Gene: ENSMUSG00000005107

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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 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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	T	14: 35,818,536 (GRCm39)	R178L	possibly damaging	Het
Abcb1a	G	A	5: 8,765,068 (GRCm39)		probably null	Het
Acap3	A	G	4: 155,986,234 (GRCm39)	T285A	probably benign	Het
Adam20	A	T	8: 41,248,352 (GRCm39)	N154I	probably damaging	Het
Adamts8	A	T	9: 30,870,604 (GRCm39)	D693V	probably damaging	Het
Ak9	A	G	10: 41,211,941 (GRCm39)	H226R	probably benign	Het
Atp6v1b1	A	G	6: 83,720,085 (GRCm39)	S7G	probably benign	Het
Atxn7l3b	C	A	10: 112,764,610 (GRCm39)	L6F	probably damaging	Het
Bco1	C	T	8: 117,840,208 (GRCm39)	T242M	probably damaging	Het
Btla	A	G	16: 45,070,845 (GRCm39)	N268S	probably benign	Het
Capn9	A	G	8: 125,327,225 (GRCm39)	S292G	probably null	Het
Cdhr18	C	T	14: 13,914,416 (GRCm38)	V9I	probably benign	Het
Col7a1	G	A	9: 108,785,740 (GRCm39)	S403N	unknown	Het
Ctps1	A	G	4: 120,405,335 (GRCm39)	V369A	probably damaging	Het
Ddx19b	A	T	8: 111,737,980 (GRCm39)	L256Q	probably damaging	Het
Dnah7a	T	C	1: 53,486,493 (GRCm39)	K3356R	probably benign	Het
Dpf2	G	A	19: 5,957,044 (GRCm39)	R60*	probably null	Het
Eif3h	A	T	15: 51,662,695 (GRCm39)	V117E	probably damaging	Het
Fam234a	A	T	17: 26,432,834 (GRCm39)	L467Q	probably damaging	Het
Fez1	T	A	9: 36,755,023 (GRCm39)	S7R	probably damaging	Het
Fh1	T	A	1: 175,442,407 (GRCm39)	M148L	possibly damaging	Het
Gabra2	G	A	5: 71,165,341 (GRCm39)	P210S	probably benign	Het
Gfm1	T	G	3: 67,339,053 (GRCm39)	I52S	probably damaging	Het
Gm6729	A	T	10: 86,376,483 (GRCm39)		noncoding transcript	Het
Gpr152	T	G	19: 4,192,906 (GRCm39)	L149R	probably damaging	Het
H2bc27	T	A	11: 58,840,067 (GRCm39)	L101Q	probably damaging	Het
Ifnar2	A	T	16: 91,201,232 (GRCm39)	D491V	probably damaging	Het
Igkv14-126	T	C	6: 67,873,367 (GRCm39)	S32P	possibly damaging	Het
Il1rl2	A	G	1: 40,404,208 (GRCm39)	E443G	probably damaging	Het
Impg2	A	G	16: 56,088,774 (GRCm39)	D1100G	probably benign	Het
Itga2	G	A	13: 115,023,185 (GRCm39)	R56*	probably null	Het
Itga2b	A	G	11: 102,360,511 (GRCm39)	S10P	probably benign	Het
Jmjd1c	C	T	10: 66,932,460 (GRCm39)		probably benign	Het
Kdm7a	T	G	6: 39,146,030 (GRCm39)	K299T	probably damaging	Het
Large2	T	A	2: 92,195,704 (GRCm39)	D632V	probably damaging	Het
Lrp2	C	T	2: 69,297,487 (GRCm39)	C3158Y	probably damaging	Het
Malt1	T	A	18: 65,580,746 (GRCm39)	D213E	probably benign	Het
Nkapl	T	C	13: 21,651,512 (GRCm39)	Q367R	probably benign	Het
Nwd2	T	C	5: 63,964,808 (GRCm39)	L1464P	probably damaging	Het
Or1e25	C	G	11: 73,494,243 (GRCm39)	T279R	probably damaging	Het
Or2y1	A	C	11: 49,386,134 (GRCm39)	Y258S	probably damaging	Het
Or7a40	A	T	16: 16,491,511 (GRCm39)	D111E	possibly damaging	Het
Or8u10	T	A	2: 85,916,044 (GRCm39)	I26F	probably benign	Het
Or9g20	C	T	2: 85,630,362 (GRCm39)	C84Y	probably benign	Het
P2ry2	A	G	7: 100,647,657 (GRCm39)	V216A	probably benign	Het
Pcdhb1	A	G	18: 37,400,199 (GRCm39)	K717E	probably damaging	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Pcsk6	T	C	7: 65,675,056 (GRCm39)	S476P	probably damaging	Het
Phactr3	T	A	2: 177,924,945 (GRCm39)	H293Q	probably damaging	Het
Pias1	T	C	9: 62,859,286 (GRCm39)	D74G	possibly damaging	Het
Plekhg6	T	C	6: 125,350,081 (GRCm39)	T286A	probably benign	Het
Pramel23	A	T	4: 143,424,903 (GRCm39)	L180Q	probably damaging	Het
Prkag2	A	C	5: 25,083,758 (GRCm39)	M75R	probably damaging	Het
Prl7c1	T	A	13: 27,960,261 (GRCm39)	M94L	probably benign	Het
Prodh	C	T	16: 17,891,504 (GRCm39)	V480I	probably benign	Het
Ptprn2	A	G	12: 116,864,628 (GRCm39)	I548V	probably benign	Het
Ptprr	T	C	10: 116,088,769 (GRCm39)	W307R	probably damaging	Het
Rab29	T	C	1: 131,797,700 (GRCm39)	S52P	possibly damaging	Het
Ralgapa2	A	G	2: 146,184,493 (GRCm39)	F1505L	probably damaging	Het
Scn8a	C	T	15: 100,869,484 (GRCm39)	A209V	probably damaging	Het
Senp2	G	T	16: 21,865,417 (GRCm39)	W580L	probably damaging	Het
Septin4	A	T	11: 87,474,142 (GRCm39)		probably null	Het
Slc17a5	C	A	9: 78,466,388 (GRCm39)	V269L	possibly damaging	Het
Slc41a2	T	A	10: 83,137,085 (GRCm39)	H274L	probably damaging	Het
Suco	A	T	1: 161,691,528 (GRCm39)	D43E	probably benign	Het
Tacr2	T	A	10: 62,088,958 (GRCm39)	I121N	probably damaging	Het
Tanc2	G	A	11: 105,804,888 (GRCm39)		probably benign	Het
Tbl1xr1	T	C	3: 22,254,522 (GRCm39)	F322L	possibly damaging	Het
Tdrd1	T	A	19: 56,839,773 (GRCm39)	L611*	probably null	Het
Tgfbr2	T	C	9: 115,939,009 (GRCm39)	T298A	probably damaging	Het
Tmprss12	T	C	15: 100,187,185 (GRCm39)	V217A	probably damaging	Het
Ttbk1	A	T	17: 46,790,173 (GRCm39)	C91S	probably damaging	Het
Vit	A	G	17: 78,894,255 (GRCm39)	H219R	probably benign	Het
Vmn1r71	A	T	7: 10,482,175 (GRCm39)	I105K	possibly damaging	Het
Vmn2r57	A	G	7: 41,077,663 (GRCm39)	F168L	probably benign	Het
Zfp945	C	T	17: 23,070,144 (GRCm39)		probably benign	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
R0395:Slc2a9	UTSW	5	38,610,512 (GRCm39)	missense	probably damaging	1.00
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
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'- CCATTCTACAGATCTGGGGACTG -3'
(R):5'- AGCCTTCCAAACATTTCTGGG -3'

Sequencing Primer
(F):5'- TGAGGACAAGCCACGTTC -3'
(R):5'- GCCTTCCAAACATTTCTGGGGAAAG -3'

Posted On

2015-06-10