Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00948:Slc7a2'

28038

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00948

Quality Score

Status

Chromosome

Chromosomal Location

40862396-40922308 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40912524 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 448 (E448G)

Ref Sequence

ENSEMBL: ENSMUSP00000113729 (fasta)

Gene Model

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

AlphaFold

P18581

Predicted Effect

probably benign
Transcript: ENSMUST00000057784
AA Change: E447G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596
AA Change: E447G

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: E448G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: E448G

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: E448G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: E448G

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: E464G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596
AA Change: E464G

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccl2	A	T	11: 82,035,732	Q24L	possibly damaging	Het
Cd33	G	A	7: 43,529,558		probably benign	Het
Cmya5	T	C	13: 93,091,036	I2515V	probably benign	Het
Cntnap5b	A	G	1: 100,141,357	T101A	probably benign	Het
Cyp4a12a	T	A	4: 115,301,962	M143K	probably damaging	Het
Ephb4	C	A	5: 137,366,659	S663R	probably damaging	Het
Gm4847	T	C	1: 166,630,338	D482G	probably benign	Het
Gskip	C	A	12: 105,698,844	N47K	probably damaging	Het
Kmt2c	T	C	5: 25,377,161	Y473C	probably benign	Het
Lrrc7	T	A	3: 158,161,557	N849I	probably damaging	Het
Magel2	T	A	7: 62,379,322	V658E	unknown	Het
Nmral1	C	T	16: 4,716,406	G57E	probably damaging	Het
Olfr801	A	T	10: 129,669,887	L211I	probably damaging	Het
Olfr921	C	T	9: 38,775,812	Q186*	probably null	Het
Padi3	C	A	4: 140,788,943	R542L	possibly damaging	Het
Plrg1	T	C	3: 83,068,119	V260A	probably damaging	Het
Prex2	A	G	1: 11,170,614	H982R	probably damaging	Het
Rbm26	T	A	14: 105,150,343	T448S	probably damaging	Het
Ryr1	C	T	7: 29,020,195	M4262I	possibly damaging	Het
Slc41a3	A	T	6: 90,645,714	D441V	probably damaging	Het
Smtnl2	C	A	11: 72,411,241		probably null	Het
Tox3	G	A	8: 90,270,434	P66L	probably damaging	Het
Vmn1r19	T	C	6: 57,405,262	F267L	probably benign	Het
Vmn2r12	A	G	5: 109,097,675	S64P	possibly damaging	Het
Zfp764	T	C	7: 127,405,204	S252G	possibly damaging	Het

Other mutations in Slc7a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Slc7a2	APN	8	40905622	missense	possibly damaging	0.57
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
IGL02043:Slc7a2	APN	8	40911058	missense	probably benign	0.35
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
R7979:Slc7a2	UTSW	8	40904504	missense	probably damaging	1.00
R8415:Slc7a2	UTSW	8	40916359	missense	probably damaging	1.00
R8673:Slc7a2	UTSW	8	40912409	intron	probably benign
R8705:Slc7a2	UTSW	8	40914995	missense	probably damaging	1.00
R8770:Slc7a2	UTSW	8	40899230	missense	probably damaging	1.00
R8777:Slc7a2	UTSW	8	40898954	missense	probably damaging	1.00
R8777-TAIL:Slc7a2	UTSW	8	40898954	missense	probably damaging	1.00
R9118:Slc7a2	UTSW	8	40898957	missense	possibly damaging	0.49
R9139:Slc7a2	UTSW	8	40905672	missense	probably damaging	1.00
R9458:Slc7a2	UTSW	8	40899293	missense	probably damaging	1.00
R9776:Slc7a2	UTSW	8	40905604	missense	probably damaging	1.00
X0062:Slc7a2	UTSW	8	40914963	missense	probably damaging	1.00

Posted On

2013-04-17