Mutagenetix > Incidental Mutation

Incidental Mutation 'R6466:Slc3a2'

516611

Institutional Source

Beutler Lab

Gene Symbol

Slc3a2

Ensembl Gene

ENSMUSG00000010095

Gene Name

solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2

Synonyms

Ly-m10, Ly-10, Cd98, Mdu1, 4F2HC, Mgp-2hc

MMRRC Submission

044599-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6466 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8684931-8700733 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 8686683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 76 (L76M)

Ref Sequence

ENSEMBL: ENSMUSP00000146016 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010239] [ENSMUST00000170157] [ENSMUST00000205377] [ENSMUST00000205538] [ENSMUST00000206560] [ENSMUST00000206598] [ENSMUST00000206797]

AlphaFold

P10852

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010239
AA Change: L299M

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000010239
Gene: ENSMUSG00000010095
AA Change: L299M

Domain	Start	End	E-Value	Type
transmembrane domain	76	98	N/A	INTRINSIC
Pfam:Alpha-amylase	132	219	8.2e-15	PFAM
low complexity region	286	305	N/A	INTRINSIC
low complexity region	343	354	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170157
AA Change: L338M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000130194
Gene: ENSMUSG00000010095
AA Change: L338M

Domain	Start	End	E-Value	Type
Pfam:SLC3A2_N	79	157	9.3e-35	PFAM
Pfam:Alpha-amylase	171	258	1.7e-15	PFAM
low complexity region	325	344	N/A	INTRINSIC
low complexity region	382	393	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000205377
AA Change: L123M

Predicted Effect

probably benign
Transcript: ENSMUST00000205463

Predicted Effect

probably benign
Transcript: ENSMUST00000205538

Predicted Effect

probably benign
Transcript: ENSMUST00000206560

Predicted Effect

probably damaging
Transcript: ENSMUST00000206598
AA Change: L76M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206895

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.1%

Validation Efficiency

98% (56/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous mutant mice display embryonic lethality. Mice homozygous for a conditional allele activated in the intestinal epithelia exhibit resistance to decreased susceptibility to induced colitis and colitis-associated cancer. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190005I06Rik	A	T	8: 121,335,735 (GRCm39)	D69E	probably damaging	Het
AAdacl4fm3	T	A	4: 144,430,437 (GRCm39)	D184V	probably damaging	Het
Adgrv1	G	T	13: 81,723,220 (GRCm39)		probably null	Het
Ahr	A	T	12: 35,554,031 (GRCm39)	V696E	probably benign	Het
Akap13	A	G	7: 75,376,792 (GRCm39)	T2007A	probably benign	Het
Arid1b	T	C	17: 5,377,953 (GRCm39)	F753S	probably damaging	Het
Bpifb3	G	T	2: 153,764,108 (GRCm39)	K105N	probably damaging	Het
C2cd2	A	G	16: 97,680,822 (GRCm39)	C331R	probably benign	Het
Chrm1	T	A	19: 8,655,542 (GRCm39)	Y82*	probably null	Het
Clcn3	A	C	8: 61,382,595 (GRCm39)	V331G	probably damaging	Het
Dchs1	A	T	7: 105,413,748 (GRCm39)	D1022E	probably benign	Het
Dnah2	T	A	11: 69,430,241 (GRCm39)	T106S	probably benign	Het
Fam171a2	T	A	11: 102,330,711 (GRCm39)	D256V	probably damaging	Het
Firrm	G	T	1: 163,781,734 (GRCm39)	R898S	probably benign	Het
Fmn2	T	A	1: 174,437,149 (GRCm39)		probably benign	Het
Fut11	C	T	14: 20,745,377 (GRCm39)	R103W	probably damaging	Het
Gas2l2	A	C	11: 83,320,179 (GRCm39)	S26A	probably damaging	Het
Gramd1a	A	T	7: 30,843,221 (GRCm39)	I29N	probably benign	Het
Grem2	A	G	1: 174,664,450 (GRCm39)	V133A	probably damaging	Het
Hydin	T	A	8: 111,233,600 (GRCm39)	S1813T	possibly damaging	Het
Igkv3-2	T	C	6: 70,676,023 (GRCm39)	F111L	probably benign	Het
Ints8	T	C	4: 11,252,878 (GRCm39)	Q68R	probably damaging	Het
Irx5	A	G	8: 93,086,354 (GRCm39)	I146V	probably damaging	Het
Kcnh3	T	C	15: 99,136,124 (GRCm39)	L707P	probably damaging	Het
Kcnk4	T	A	19: 6,905,665 (GRCm39)	I101F	probably damaging	Het
Klhl9	A	G	4: 88,639,399 (GRCm39)	Y281H	probably benign	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Lmbr1	C	T	5: 29,583,166 (GRCm39)	A9T	probably benign	Het
Map10	G	T	8: 126,399,123 (GRCm39)	E839*	probably null	Het
Nectin4	C	A	1: 171,214,321 (GRCm39)	A492D	probably damaging	Het
Nfat5	T	A	8: 108,082,140 (GRCm39)		probably null	Het
Or5p5	A	G	7: 107,413,901 (GRCm39)	T37A	probably benign	Het
Plec	A	G	15: 76,062,084 (GRCm39)	Y2608H	probably benign	Het
Pold3	A	G	7: 99,749,839 (GRCm39)	S42P	probably benign	Het
Ppp2r1a	G	T	17: 21,180,893 (GRCm39)	G432*	probably null	Het
Qki	T	C	17: 10,434,394 (GRCm39)	E315G	probably benign	Het
Rfx2	C	T	17: 57,091,397 (GRCm39)	V354I	probably benign	Het
Rp1	T	C	1: 4,418,109 (GRCm39)	Y1001C	probably benign	Het
Sez6l	A	G	5: 112,609,007 (GRCm39)		probably null	Het
Slc39a14	A	G	14: 70,547,335 (GRCm39)	I337T	probably damaging	Het
Slco1a5	T	C	6: 142,183,260 (GRCm39)	T555A	probably benign	Het
Sprr2e	A	T	3: 92,260,341 (GRCm39)	K57N	unknown	Het
Syne2	A	G	12: 75,990,675 (GRCm39)	T1886A	probably damaging	Het
Tenm3	A	T	8: 48,689,098 (GRCm39)	I2147N	probably damaging	Het
Thbs1	G	T	2: 117,950,328 (GRCm39)	G654W	probably damaging	Het
Tigd5	A	G	15: 75,782,352 (GRCm39)	Y238C	possibly damaging	Het
Tmem221	A	G	8: 72,010,493 (GRCm39)	F126S	probably damaging	Het
Trp63	C	A	16: 25,582,108 (GRCm39)	P52Q	probably damaging	Het
Ugp2	A	T	11: 21,278,883 (GRCm39)	S434R	probably benign	Het
Vmn2r69	A	C	7: 85,056,378 (GRCm39)	F587V	probably benign	Het
Vps13d	T	A	4: 144,784,065 (GRCm39)	N3872I	possibly damaging	Het
Wdfy2	A	G	14: 63,186,115 (GRCm39)	Y250C	probably damaging	Het
Zbtb16	T	C	9: 48,576,619 (GRCm39)	D487G	possibly damaging	Het

Other mutations in Slc3a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01374:Slc3a2	APN	19	8,690,701 (GRCm39)	splice site	probably null
IGL02541:Slc3a2	APN	19	8,685,123 (GRCm39)	nonsense	probably null
Underdeveloped	UTSW	19	8,690,996 (GRCm39)	missense	probably damaging	1.00
R0145:Slc3a2	UTSW	19	8,685,437 (GRCm39)	missense	probably damaging	1.00
R1015:Slc3a2	UTSW	19	8,685,319 (GRCm39)	nonsense	probably null
R2135:Slc3a2	UTSW	19	8,685,608 (GRCm39)	missense	probably benign	0.04
R5406:Slc3a2	UTSW	19	8,685,406 (GRCm39)	missense	probably damaging	1.00
R5464:Slc3a2	UTSW	19	8,691,008 (GRCm39)	missense	probably damaging	1.00
R5603:Slc3a2	UTSW	19	8,691,092 (GRCm39)	missense	probably benign	0.43
R5715:Slc3a2	UTSW	19	8,685,594 (GRCm39)	missense	probably benign
R5949:Slc3a2	UTSW	19	8,690,759 (GRCm39)	missense	probably damaging	1.00
R6594:Slc3a2	UTSW	19	8,685,410 (GRCm39)	missense	probably damaging	1.00
R6860:Slc3a2	UTSW	19	8,690,996 (GRCm39)	missense	probably damaging	1.00
R6971:Slc3a2	UTSW	19	8,686,974 (GRCm39)	critical splice acceptor site	probably null
R7252:Slc3a2	UTSW	19	8,700,521 (GRCm39)	start gained	probably benign
R7915:Slc3a2	UTSW	19	8,685,182 (GRCm39)	missense	probably damaging	0.98
R9423:Slc3a2	UTSW	19	8,690,189 (GRCm39)	missense	possibly damaging	0.80
R9681:Slc3a2	UTSW	19	8,691,226 (GRCm39)	intron	probably benign
R9689:Slc3a2	UTSW	19	8,686,594 (GRCm39)	missense	probably damaging	0.97
R9729:Slc3a2	UTSW	19	8,685,370 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGATGGTCCGGTATAAAGTCTGC -3'
(R):5'- GAGGCGAGTTTCCTAGTCTC -3'

Sequencing Primer
(F):5'- TATAAAGTCTGCGAGGAGTCCTGC -3'
(R):5'- GCGAGTTTCCTAGTCTCGAGAAC -3'

Posted On

2018-05-21