Mutagenetix > Incidental Mutation

Incidental Mutation 'R1908:Slc7a2'

210062

Institutional Source

Beutler Lab

Gene Symbol

Slc7a2

Ensembl Gene

ENSMUSG00000031596

Gene Name

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

Synonyms

Tea, Atrc2, Cat2

MMRRC Submission

039927-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1908 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41315404-41375107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41369534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 663 (L663S)

Ref Sequence

ENSEMBL: ENSMUSP00000112848 (fasta)

Gene Model

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

AlphaFold

P18581

Predicted Effect

probably benign
Transcript: ENSMUST00000057784
AA Change: L646S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596
AA Change: L646S

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: L647S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: L647S

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: L647S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: L647S

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: L663S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596
AA Change: L663S

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

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	C	A	11: 109,847,924 (GRCm39)	L852F	possibly damaging	Het
Abcc6	T	C	7: 45,669,558 (GRCm39)		probably null	Het
Alg11	T	G	8: 22,555,584 (GRCm39)	C240G	probably damaging	Het
Aox1	A	G	1: 58,141,783 (GRCm39)	I1190V	probably damaging	Het
Apc2	T	G	10: 80,150,678 (GRCm39)	S1911A	probably benign	Het
Arfgef3	T	C	10: 18,528,511 (GRCm39)	D292G	possibly damaging	Het
Arhgef4	C	A	1: 34,763,340 (GRCm39)	S865R	probably benign	Het
Ass1	T	A	2: 31,383,160 (GRCm39)	Y190*	probably null	Het
B4galnt3	A	T	6: 120,187,051 (GRCm39)		probably null	Het
Btnl10	C	A	11: 58,811,367 (GRCm39)	P230Q	possibly damaging	Het
C3	A	G	17: 57,516,489 (GRCm39)	Y1348H	probably damaging	Het
Ccdc198	G	T	14: 49,464,032 (GRCm39)	D292E	probably damaging	Het
Cebpz	A	T	17: 79,242,336 (GRCm39)	Y439*	probably null	Het
Cic	C	A	7: 24,986,265 (GRCm39)	T1229K	probably damaging	Het
Clip4	T	C	17: 72,144,744 (GRCm39)	S524P	probably damaging	Het
Col6a3	A	C	1: 90,739,421 (GRCm39)	I269R	probably damaging	Het
Dbh	C	T	2: 27,071,506 (GRCm39)	T533I	possibly damaging	Het
Dcaf17	A	T	2: 70,890,713 (GRCm39)	R83*	probably null	Het
Dennd2b	G	A	7: 109,124,533 (GRCm39)	Q686*	probably null	Het
Dnah1	A	G	14: 30,984,515 (GRCm39)	L3923P	probably damaging	Het
Dnah7a	A	T	1: 53,670,721 (GRCm39)	D510E	probably benign	Het
Dock6	A	G	9: 21,752,925 (GRCm39)	F296S	probably damaging	Het
Eif4enif1	T	C	11: 3,177,455 (GRCm39)	S341P	probably damaging	Het
Epb41l1	G	T	2: 156,352,737 (GRCm39)	G461V	possibly damaging	Het
Epg5	T	A	18: 78,002,247 (GRCm39)	D555E	probably benign	Het
Fes	T	C	7: 80,036,609 (GRCm39)	R113G	probably damaging	Het
Garre1	T	A	7: 33,957,461 (GRCm39)	I59L	probably benign	Het
Gm10684	A	G	9: 45,021,511 (GRCm39)		probably benign	Het
Gm12185	T	C	11: 48,806,231 (GRCm39)	E320G	probably benign	Het
Gm14412	G	T	2: 177,007,269 (GRCm39)	H209N	probably damaging	Het
Gm14412	A	C	2: 177,007,630 (GRCm39)	S88R	probably benign	Het
Grhl1	T	A	12: 24,658,555 (GRCm39)	L400Q	probably damaging	Het
Havcr1	T	A	11: 46,664,511 (GRCm39)	Y216*	probably null	Het
Hephl1	A	C	9: 14,985,420 (GRCm39)	Y745*	probably null	Het
Hmcn2	T	G	2: 31,301,922 (GRCm39)		probably null	Het
Hs3st6	A	G	17: 24,977,110 (GRCm39)	K197E	possibly damaging	Het
Ifi214	C	T	1: 173,357,077 (GRCm39)	V9I	probably benign	Het
Jakmip2	T	C	18: 43,700,209 (GRCm39)	T450A	probably benign	Het
Lrp4	T	A	2: 91,328,753 (GRCm39)	V1551D	possibly damaging	Het
Macf1	A	T	4: 123,351,634 (GRCm39)	H1634Q	possibly damaging	Het
Mcpt8	T	A	14: 56,321,291 (GRCm39)	I58F	probably benign	Het
Mga	T	A	2: 119,757,075 (GRCm39)	H1018Q	possibly damaging	Het
Myo10	T	A	15: 25,801,308 (GRCm39)	V1499E	probably damaging	Het
Myom2	G	T	8: 15,131,023 (GRCm39)	D320Y	probably damaging	Het
Or11g7	T	A	14: 50,691,295 (GRCm39)	M262K	probably damaging	Het
Or13a27	T	C	7: 139,925,378 (GRCm39)	I175V	probably benign	Het
Or2r11	C	T	6: 42,437,360 (GRCm39)	V198M	probably benign	Het
Or2t26	A	C	11: 49,039,101 (GRCm39)	N6H	possibly damaging	Het
Or4c115	G	A	2: 88,927,888 (GRCm39)	P128S	probably damaging	Het
Or5d47	A	T	2: 87,804,403 (GRCm39)	V202D	possibly damaging	Het
Pabpc4	G	T	4: 123,182,861 (GRCm39)	R166L	possibly damaging	Het
Pcdhb8	A	G	18: 37,489,015 (GRCm39)	E231G	possibly damaging	Het
Pomgnt2	A	T	9: 121,811,257 (GRCm39)	I508N	possibly damaging	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prdm15	G	T	16: 97,638,885 (GRCm39)	D58E	probably benign	Het
Rgl2	A	G	17: 34,151,122 (GRCm39)	T117A	probably benign	Het
Rp1	A	G	1: 4,418,943 (GRCm39)	I723T	probably damaging	Het
Serpina3g	A	G	12: 104,207,536 (GRCm39)	E233G	probably damaging	Het
Skint6	T	A	4: 112,749,187 (GRCm39)	S798C	probably benign	Het
Slc35f1	T	C	10: 52,898,000 (GRCm39)	L137P	possibly damaging	Het
Slc6a20a	T	C	9: 123,485,373 (GRCm39)	N246S	probably damaging	Het
Slco1a4	A	G	6: 141,761,173 (GRCm39)		probably null	Het
Slit2	A	G	5: 48,439,330 (GRCm39)	T41A	probably damaging	Het
Smc2	T	C	4: 52,450,863 (GRCm39)	I227T	probably damaging	Het
Smg1	A	G	7: 117,753,422 (GRCm39)		probably benign	Het
Ssu2	A	T	6: 112,361,388 (GRCm39)	L23M	probably benign	Het
Syne2	A	G	12: 76,141,053 (GRCm39)		probably null	Het
Tekt1	T	C	11: 72,242,761 (GRCm39)	T249A	probably benign	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Thsd7b	C	T	1: 129,605,846 (GRCm39)	P529L	probably damaging	Het
Tll1	C	T	8: 64,478,141 (GRCm39)	D871N	probably damaging	Het
Tlr11	A	C	14: 50,598,664 (GRCm39)	I217L	probably benign	Het
Tmem87b	T	A	2: 128,673,479 (GRCm39)	V241D	probably damaging	Het
Tshz2	T	A	2: 169,727,465 (GRCm39)	I218N	possibly damaging	Het
Vmn1r18	A	T	6: 57,367,026 (GRCm39)	I176N	possibly damaging	Het
Vmn2r68	T	A	7: 84,883,260 (GRCm39)	H164L	probably benign	Het
Vmn2r74	T	C	7: 85,601,650 (GRCm39)	T663A	probably benign	Het
Vmn2r8	T	C	5: 108,945,436 (GRCm39)	T724A	probably benign	Het
Wdr11	T	C	7: 129,206,954 (GRCm39)	V289A	possibly damaging	Het
Zfp62	T	A	11: 49,107,047 (GRCm39)	D379E	probably damaging	Het
Zfp78	C	T	7: 6,381,897 (GRCm39)	P316S	probably damaging	Het
Zfyve27	T	G	19: 42,159,987 (GRCm39)	M1R	probably null	Het
Zkscan8	G	A	13: 21,709,325 (GRCm39)	P191L	probably damaging	Het

Other mutations in Slc7a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Slc7a2	APN	8	41,358,659 (GRCm39)	missense	possibly damaging	0.57
IGL00948:Slc7a2	APN	8	41,365,561 (GRCm39)	missense	probably benign	0.04
IGL01565:Slc7a2	APN	8	41,352,275 (GRCm39)	missense	possibly damaging	0.94
IGL01590:Slc7a2	APN	8	41,367,137 (GRCm39)	missense	probably damaging	1.00
IGL01939:Slc7a2	APN	8	41,367,120 (GRCm39)	missense	possibly damaging	0.93
IGL02043:Slc7a2	APN	8	41,364,095 (GRCm39)	missense	probably benign	0.35
IGL02101:Slc7a2	APN	8	41,355,631 (GRCm39)	missense	probably benign	0.07
IGL02238:Slc7a2	APN	8	41,361,193 (GRCm39)	missense	probably benign
IGL02385:Slc7a2	APN	8	41,352,048 (GRCm39)	missense	probably damaging	0.98
IGL02562:Slc7a2	APN	8	41,368,057 (GRCm39)	missense	probably damaging	1.00
IGL02962:Slc7a2	APN	8	41,358,621 (GRCm39)	missense	probably damaging	0.98
IGL03268:Slc7a2	APN	8	41,365,554 (GRCm39)	missense	probably benign	0.00
IGL03285:Slc7a2	APN	8	41,368,030 (GRCm39)	missense	possibly damaging	0.50
IGL03345:Slc7a2	APN	8	41,369,530 (GRCm39)	missense	probably benign	0.25
IGL03375:Slc7a2	APN	8	41,369,410 (GRCm39)	missense	probably damaging	1.00
R0014:Slc7a2	UTSW	8	41,364,065 (GRCm39)	missense	probably damaging	1.00
R0014:Slc7a2	UTSW	8	41,364,065 (GRCm39)	missense	probably damaging	1.00
R0437:Slc7a2	UTSW	8	41,357,563 (GRCm39)	missense	probably damaging	1.00
R0624:Slc7a2	UTSW	8	41,361,568 (GRCm39)	missense	probably benign	0.34
R1406:Slc7a2	UTSW	8	41,358,622 (GRCm39)	missense	probably damaging	1.00
R1406:Slc7a2	UTSW	8	41,358,622 (GRCm39)	missense	probably damaging	1.00
R1959:Slc7a2	UTSW	8	41,368,002 (GRCm39)	missense	probably damaging	0.97
R2251:Slc7a2	UTSW	8	41,358,658 (GRCm39)	missense	probably benign	0.19
R2252:Slc7a2	UTSW	8	41,358,658 (GRCm39)	missense	probably benign	0.19
R2253:Slc7a2	UTSW	8	41,358,658 (GRCm39)	missense	probably benign	0.19
R3498:Slc7a2	UTSW	8	41,365,567 (GRCm39)	missense	probably benign	0.11
R3899:Slc7a2	UTSW	8	41,358,590 (GRCm39)	missense	possibly damaging	0.93
R4440:Slc7a2	UTSW	8	41,355,686 (GRCm39)	missense	probably benign
R4785:Slc7a2	UTSW	8	41,364,095 (GRCm39)	missense	probably benign	0.18
R4788:Slc7a2	UTSW	8	41,367,023 (GRCm39)	missense	probably benign
R4826:Slc7a2	UTSW	8	41,364,083 (GRCm39)	missense	probably damaging	1.00
R4996:Slc7a2	UTSW	8	41,365,599 (GRCm39)	nonsense	probably null
R5249:Slc7a2	UTSW	8	41,361,130 (GRCm39)	missense	possibly damaging	0.77
R5314:Slc7a2	UTSW	8	41,368,067 (GRCm39)	critical splice donor site	probably null
R5408:Slc7a2	UTSW	8	41,368,042 (GRCm39)	missense	probably damaging	1.00
R5537:Slc7a2	UTSW	8	41,367,023 (GRCm39)	missense	probably benign	0.10
R6116:Slc7a2	UTSW	8	41,353,206 (GRCm39)	missense	probably damaging	0.98
R7139:Slc7a2	UTSW	8	41,368,050 (GRCm39)	missense	probably benign	0.01
R7389:Slc7a2	UTSW	8	41,365,552 (GRCm39)	missense	probably benign
R7451:Slc7a2	UTSW	8	41,365,686 (GRCm39)	missense	probably damaging	0.99
R7979:Slc7a2	UTSW	8	41,357,541 (GRCm39)	missense	probably damaging	1.00
R8415:Slc7a2	UTSW	8	41,369,396 (GRCm39)	missense	probably damaging	1.00
R8673:Slc7a2	UTSW	8	41,365,446 (GRCm39)	intron	probably benign
R8705:Slc7a2	UTSW	8	41,368,032 (GRCm39)	missense	probably damaging	1.00
R8770:Slc7a2	UTSW	8	41,352,267 (GRCm39)	missense	probably damaging	1.00
R8777:Slc7a2	UTSW	8	41,351,991 (GRCm39)	missense	probably damaging	1.00
R8777-TAIL:Slc7a2	UTSW	8	41,351,991 (GRCm39)	missense	probably damaging	1.00
R9118:Slc7a2	UTSW	8	41,351,994 (GRCm39)	missense	possibly damaging	0.49
R9139:Slc7a2	UTSW	8	41,358,709 (GRCm39)	missense	probably damaging	1.00
R9458:Slc7a2	UTSW	8	41,352,330 (GRCm39)	missense	probably damaging	1.00
R9776:Slc7a2	UTSW	8	41,358,641 (GRCm39)	missense	probably damaging	1.00
X0062:Slc7a2	UTSW	8	41,368,000 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACACACTTGATGCGCTTTC -3'
(R):5'- TAGCTGAGGAGTGCTCTCAG -3'

Sequencing Primer
(F):5'- GATGCGCTTTCTCTCCCCAAAG -3'
(R):5'- CACCATCTGAAGAGAAGCTGTCTG -3'

Posted On

2014-06-30