Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02043:Slc7a2'

184829

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc7a2

Ensembl Gene

ENSMUSG00000031596

Gene Name

solute carrier family 7 (cationic amino acid transporter, y+ system), member 2

Synonyms

Tea, Cat2, Atrc2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02043

Quality Score

Status

Chromosome

Chromosomal Location

40862396-40922308 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 40911058 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 436 (M436R)

Ref Sequence

ENSEMBL: ENSMUSP00000112848 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057784] [ENSMUST00000098816] [ENSMUST00000117077] [ENSMUST00000118432]

Predicted Effect

probably benign
Transcript: ENSMUST00000057784
AA Change: M419R

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596
AA Change: M419R

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	34	450	1.4e-55	PFAM
Pfam:AA_permease	38	442	9.7e-38	PFAM
transmembrane domain	492	514	N/A	INTRINSIC
transmembrane domain	524	543	N/A	INTRINSIC
Pfam:AA_permease_C	555	605	4.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098816
AA Change: M420R

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: M420R

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	34	451	8.9e-54	PFAM
Pfam:AA_permease	38	443	5.8e-35	PFAM
transmembrane domain	493	515	N/A	INTRINSIC
transmembrane domain	525	544	N/A	INTRINSIC
Pfam:AA_permease_C	556	606	4.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117077
AA Change: M420R

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: M420R

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	34	454	2e-52	PFAM
Pfam:AA_permease	38	440	4.8e-33	PFAM
transmembrane domain	493	515	N/A	INTRINSIC
transmembrane domain	525	544	N/A	INTRINSIC
Pfam:AA_permease_C	556	606	3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118432
AA Change: M436R

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596
AA Change: M436R

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:AA_permease_2	51	469	5.1e-54	PFAM
Pfam:AA_permease	55	456	5.1e-36	PFAM
transmembrane domain	509	531	N/A	INTRINSIC
transmembrane domain	541	560	N/A	INTRINSIC
Pfam:AA_permease_C	572	622	2.5e-28	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygotes for a targeted null allele exhibit a marked reduction of nitric oxide production by cytokine-activated macrophages. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610037L13Rik	T	G	4: 107,894,868		probably benign	Het
Atp1b2	T	C	11: 69,605,276	T33A	probably benign	Het
Brd2	A	T	17: 34,112,616		probably benign	Het
Carmil1	T	C	13: 24,024,316		probably benign	Het
Cdh9	A	T	15: 16,856,232	D786V	probably damaging	Het
Cep128	A	C	12: 91,266,730		probably benign	Het
Cep85	T	C	4: 134,155,727	T284A	probably benign	Het
Chrna1	C	T	2: 73,568,106	E330K	probably benign	Het
Clec2l	T	C	6: 38,676,850	Y104H	probably damaging	Het
Clybl	G	T	14: 122,379,252	K226N	probably damaging	Het
Cmip	T	A	8: 117,445,328	D467E	probably benign	Het
Cpne3	A	T	4: 19,543,340		probably null	Het
Crisp4	A	G	1: 18,134,100	V46A	probably damaging	Het
Csnk2a1	T	C	2: 152,274,150	Y261H	probably damaging	Het
Cul5	C	A	9: 53,658,673	G86V	probably benign	Het
Depdc7	T	C	2: 104,730,281	T123A	probably benign	Het
Edem2	T	C	2: 155,705,741	T384A	probably damaging	Het
F8	C	T	X: 75,332,641	M377I	probably benign	Het
Fan1	T	A	7: 64,371,619		probably null	Het
Fez2	T	C	17: 78,381,622	D366G	probably damaging	Het
Gm4841	A	C	18: 60,270,965	S19A	probably benign	Het
Gm4862	T	A	3: 139,128,635		noncoding transcript	Het
Hk3	T	A	13: 55,015,095	Q44L	probably damaging	Het
Irgm1	C	A	11: 48,866,815	L56F	probably damaging	Het
Ldlr	A	G	9: 21,733,499	T108A	probably benign	Het
Lgr4	T	A	2: 110,011,290	M516K	probably damaging	Het
Lrp1b	T	C	2: 40,697,525	N3906S	probably null	Het
Lrrtm4	A	G	6: 80,021,862	N86D	possibly damaging	Het
Map3k2	A	G	18: 32,207,534	D198G	probably damaging	Het
Mapkapk3	C	T	9: 107,262,422		probably null	Het
Mvp	A	T	7: 126,993,618	Y374N	probably damaging	Het
Myo3a	T	C	2: 22,399,965	S711P	probably benign	Het
Myom3	A	G	4: 135,770,675	K189E	probably damaging	Het
Naip1	T	A	13: 100,426,796	K620N	probably benign	Het
Nlrp10	T	C	7: 108,925,502	E257G	probably damaging	Het
Nptn	T	G	9: 58,640,729	M139R	possibly damaging	Het
Nrk	T	G	X: 138,988,795	M1105R	possibly damaging	Het
Olfr357	T	A	2: 36,997,465	Y218*	probably null	Het
Olfr519	A	T	7: 108,893,839	C189*	probably null	Het
Olfr963	T	G	9: 39,669,078	V7G	probably damaging	Het
Pcdhb16	A	G	18: 37,479,195	T403A	probably benign	Het
Pcyt1b	A	G	X: 93,702,116	E50G	possibly damaging	Het
Pigg	C	T	5: 108,344,324	T892I	probably damaging	Het
Ppig	T	G	2: 69,735,983		probably null	Het
Prr12	A	G	7: 45,050,005		probably benign	Het
Slc5a5	G	T	8: 70,892,429	A78E	possibly damaging	Het
Sp7	T	A	15: 102,359,255	M39L	probably benign	Het
Spag8	T	A	4: 43,653,134		probably benign	Het
Svep1	A	G	4: 58,068,556	S3077P	probably benign	Het
Tmem30a	A	T	9: 79,774,089		probably benign	Het
Tmem63a	C	T	1: 180,972,788	T714I	probably benign	Het
Trank1	T	C	9: 111,363,960	L535P	probably damaging	Het
Tuba8	A	C	6: 121,220,511	N44T	probably benign	Het
Wnk1	A	G	6: 119,949,078		probably benign	Het
Zfp654	A	T	16: 64,785,028	I396K	probably benign	Het

Other mutations in Slc7a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Slc7a2	APN	8	40905622	missense	possibly damaging	0.57
IGL00948:Slc7a2	APN	8	40912524	missense	probably benign	0.04
IGL01565:Slc7a2	APN	8	40899238	missense	possibly damaging	0.94
IGL01590:Slc7a2	APN	8	40914100	missense	probably damaging	1.00
IGL01939:Slc7a2	APN	8	40914083	missense	possibly damaging	0.93
IGL02101:Slc7a2	APN	8	40902594	missense	probably benign	0.07
IGL02238:Slc7a2	APN	8	40908156	missense	probably benign
IGL02385:Slc7a2	APN	8	40899011	missense	probably damaging	0.98
IGL02562:Slc7a2	APN	8	40915020	missense	probably damaging	1.00
IGL02962:Slc7a2	APN	8	40905584	missense	probably damaging	0.98
IGL03268:Slc7a2	APN	8	40912517	missense	probably benign	0.00
IGL03285:Slc7a2	APN	8	40914993	missense	possibly damaging	0.50
IGL03345:Slc7a2	APN	8	40916493	missense	probably benign	0.25
IGL03375:Slc7a2	APN	8	40916373	missense	probably damaging	1.00
R0014:Slc7a2	UTSW	8	40911028	missense	probably damaging	1.00
R0014:Slc7a2	UTSW	8	40911028	missense	probably damaging	1.00
R0437:Slc7a2	UTSW	8	40904526	missense	probably damaging	1.00
R0624:Slc7a2	UTSW	8	40908531	missense	probably benign	0.34
R1406:Slc7a2	UTSW	8	40905585	missense	probably damaging	1.00
R1406:Slc7a2	UTSW	8	40905585	missense	probably damaging	1.00
R1908:Slc7a2	UTSW	8	40916497	missense	probably benign
R1959:Slc7a2	UTSW	8	40914965	missense	probably damaging	0.97
R2251:Slc7a2	UTSW	8	40905621	missense	probably benign	0.19
R2252:Slc7a2	UTSW	8	40905621	missense	probably benign	0.19
R2253:Slc7a2	UTSW	8	40905621	missense	probably benign	0.19
R3498:Slc7a2	UTSW	8	40912530	missense	probably benign	0.11
R3899:Slc7a2	UTSW	8	40905553	missense	possibly damaging	0.93
R4440:Slc7a2	UTSW	8	40902649	missense	probably benign
R4785:Slc7a2	UTSW	8	40911058	missense	probably benign	0.18
R4788:Slc7a2	UTSW	8	40913986	missense	probably benign
R4826:Slc7a2	UTSW	8	40911046	missense	probably damaging	1.00
R4996:Slc7a2	UTSW	8	40912562	nonsense	probably null
R5249:Slc7a2	UTSW	8	40908093	missense	possibly damaging	0.77
R5314:Slc7a2	UTSW	8	40915030	critical splice donor site	probably null
R5408:Slc7a2	UTSW	8	40915005	missense	probably damaging	1.00
R5537:Slc7a2	UTSW	8	40913986	missense	probably benign	0.10
R6116:Slc7a2	UTSW	8	40900169	missense	probably damaging	0.98
R7139:Slc7a2	UTSW	8	40915013	missense	probably benign	0.01
R7389:Slc7a2	UTSW	8	40912515	missense	probably benign
R7451:Slc7a2	UTSW	8	40912649	missense	probably damaging	0.99
X0062:Slc7a2	UTSW	8	40914963	missense	probably damaging	1.00

Posted On

2014-05-07