Mutagenetix > Incidental Mutation

Incidental Mutation 'R9681:Slc3a2'

728593

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9681 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8684931-8700733 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 8691226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145892 (fasta)

Gene Model

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

AlphaFold

P10852

Predicted Effect

probably benign
Transcript: ENSMUST00000010239

SMART Domains

Protein: ENSMUSP00000010239
Gene: ENSMUSG00000010095

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 benign
Transcript: ENSMUST00000170157

SMART Domains

Protein: ENSMUSP00000130194
Gene: ENSMUSG00000010095

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

probably benign
Transcript: ENSMUST00000205377

Predicted Effect

probably benign
Transcript: ENSMUST00000205463

Predicted Effect

probably benign
Transcript: ENSMUST00000205538

Predicted Effect

probably benign
Transcript: ENSMUST00000206560

Predicted Effect

probably benign
Transcript: ENSMUST00000206598

Predicted Effect

probably benign
Transcript: ENSMUST00000206797

Coding Region Coverage

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

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	A	G	6: 72,324,450 (GRCm39)	D20G	probably damaging	Het
Acbd3	T	A	1: 180,566,082 (GRCm39)	Y258*	probably null	Het
Adamts1	T	A	16: 85,599,498 (GRCm39)	H34L		Het
Ankmy1	G	T	1: 92,813,882 (GRCm39)	N432K	possibly damaging	Het
Ano1	A	G	7: 144,143,893 (GRCm39)	M966T	possibly damaging	Het
Ark2n	A	T	18: 77,722,989 (GRCm39)	V349D	possibly damaging	Het
C2cd3	A	G	7: 100,023,662 (GRCm39)	T83A	probably benign	Het
Cdk1	T	A	10: 69,178,449 (GRCm39)	D137V	possibly damaging	Het
Cfap299	T	A	5: 98,477,214 (GRCm39)	M1K	probably null	Het
Chia1	A	G	3: 106,037,996 (GRCm39)	Y326C	probably damaging	Het
Ciz1	A	G	2: 32,260,974 (GRCm39)	D295G	possibly damaging	Het
Clrn1	C	T	3: 58,792,251 (GRCm39)	V71I	probably benign	Het
Cr1l	T	C	1: 194,800,149 (GRCm39)	D175G	probably damaging	Het
Crem	A	T	18: 3,268,067 (GRCm39)	V87E	probably damaging	Het
Cyp2b19	T	A	7: 26,466,328 (GRCm39)	L377Q	probably benign	Het
Ddx42	T	A	11: 106,125,679 (GRCm39)	V243D	probably damaging	Het
Dnah14	T	C	1: 181,562,414 (GRCm39)	V2658A	possibly damaging	Het
Dnah3	T	G	7: 119,677,611 (GRCm39)	M437L	probably benign	Het
Flrt2	T	A	12: 95,745,425 (GRCm39)		probably benign	Het
Gm10142	T	A	10: 77,551,880 (GRCm39)	C80*	probably null	Het
Gpr158	A	G	2: 21,831,315 (GRCm39)	E805G	probably damaging	Het
Grwd1	T	C	7: 45,479,473 (GRCm39)	E134G	probably benign	Het
Hdac11	T	A	6: 91,150,068 (GRCm39)	V289D	probably benign	Het
Hsdl1	T	C	8: 120,293,081 (GRCm39)	E118G	possibly damaging	Het
Igdcc4	T	A	9: 65,041,858 (GRCm39)	L1095Q	possibly damaging	Het
Ildr1	T	A	16: 36,528,749 (GRCm39)	C65S	probably damaging	Het
Itgal	T	C	7: 126,929,422 (GRCm39)	F1113S	probably damaging	Het
Itsn2	G	T	12: 4,683,499 (GRCm39)	V341F	unknown	Het
Jak1	G	A	4: 101,019,085 (GRCm39)	R723C	probably damaging	Het
Limch1	A	G	5: 67,126,422 (GRCm39)	T8A	probably damaging	Het
Limd1	T	A	9: 123,345,903 (GRCm39)	C561S	possibly damaging	Het
Map3k19	A	G	1: 127,750,097 (GRCm39)	F1085L	possibly damaging	Het
Mcm7	A	T	5: 138,164,220 (GRCm39)	Y600*	probably null	Het
Mecom	A	T	3: 30,033,803 (GRCm39)	D300E	probably benign	Het
Mfap4	T	A	11: 61,376,925 (GRCm39)	Y51*	probably null	Het
Mug1	T	A	6: 121,833,254 (GRCm39)	N286K	probably benign	Het
Myl2	A	T	5: 122,240,783 (GRCm39)	R40*	probably null	Het
Nom1	A	G	5: 29,642,623 (GRCm39)	S375G	probably damaging	Het
Nrcam	C	A	12: 44,598,133 (GRCm39)	P368Q	probably null	Het
Oca2	G	C	7: 55,943,623 (GRCm39)	Q265H	probably null	Het
Or52a20	T	A	7: 103,366,475 (GRCm39)	F225I	probably damaging	Het
Or52n2c	T	C	7: 104,574,075 (GRCm39)	T299A	probably damaging	Het
Or5k8	T	A	16: 58,644,176 (GRCm39)	N299Y	possibly damaging	Het
Or6c88	A	T	10: 129,406,664 (GRCm39)	T47S	probably damaging	Het
Or7a41	G	A	10: 78,871,577 (GRCm39)	D316N	probably benign	Het
Palmd	T	C	3: 116,717,120 (GRCm39)	E459G	probably benign	Het
Pde1a	G	T	2: 79,695,465 (GRCm39)	A494D	probably benign	Het
Pds5a	T	C	5: 65,808,587 (GRCm39)	Y428C	probably damaging	Het
Pgm2	T	C	5: 64,254,391 (GRCm39)	F59L	probably benign	Het
Plekhm1	A	G	11: 103,258,950 (GRCm39)	V980A	possibly damaging	Het
Polb	T	C	8: 23,118,346 (GRCm39)	D318G	possibly damaging	Het
Rasgef1c	T	A	11: 49,861,040 (GRCm39)	M335K	probably damaging	Het
Rasgrp4	T	C	7: 28,849,687 (GRCm39)	S651P	probably benign	Het
Robo3	A	C	9: 37,334,558 (GRCm39)	I624S	possibly damaging	Het
Robo3	T	A	9: 37,339,087 (GRCm39)	H290L	probably benign	Het
Rps6kl1	T	C	12: 85,183,599 (GRCm39)	H482R	probably damaging	Het
Slc26a9	A	T	1: 131,681,691 (GRCm39)	E168V	probably benign	Het
Slc4a4	A	T	5: 89,102,723 (GRCm39)	K54*	probably null	Het
Slitrk6	A	G	14: 110,988,258 (GRCm39)	L483P	probably damaging	Het
Svep1	T	A	4: 58,084,959 (GRCm39)	N1793I	probably damaging	Het
Ttn	T	C	2: 76,612,723 (GRCm39)	I17119V	possibly damaging	Het
Tulp4	T	C	17: 6,274,500 (GRCm39)	L617P	possibly damaging	Het
Uhrf1	A	G	17: 56,625,083 (GRCm39)	N542S	possibly damaging	Het
Vmn1r151	T	A	7: 22,198,368 (GRCm39)	T246S	probably damaging	Het
Vmn1r57	T	A	7: 5,224,069 (GRCm39)	V198E	probably damaging	Het
Vmn2r99	A	T	17: 19,598,889 (GRCm39)	Q191L	probably damaging	Het
Vrk3	C	T	7: 44,403,356 (GRCm39)	T39M	possibly damaging	Het
Zc3h3	C	A	15: 75,681,470 (GRCm39)	R537L	probably damaging	Het
Zfp64	A	T	2: 168,793,680 (GRCm39)	V22E	probably damaging	Het
Zwint	T	C	10: 72,493,112 (GRCm39)	L218P	probably 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
R6466:Slc3a2	UTSW	19	8,686,683 (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
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'- GCATTCATGGGCTGCTTCTC -3'
(R):5'- CCTGGTCAAGACAAATTCACG -3'

Sequencing Primer
(F):5'- CCGGTTCTAGCTCGTTCAG -3'
(R):5'- CAAATTCACGTTTGTTATTCTAAGGG -3'

Posted On

2022-10-06