Mutagenetix > Incidental Mutation

Incidental Mutation 'R1959:Slc7a2'

218163

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

039973-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41315404-41375107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41368002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 589 (I589F)

Ref Sequence

ENSEMBL: ENSMUSP00000112848 (fasta)

Gene Model

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

AlphaFold

P18581

Predicted Effect

probably damaging
Transcript: ENSMUST00000057784
AA Change: I572F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596
AA Change: I572F

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

possibly damaging
Transcript: ENSMUST00000098816
AA Change: I573F

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: I573F

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

possibly damaging
Transcript: ENSMUST00000117077
AA Change: I573F

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: I573F

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 damaging
Transcript: ENSMUST00000118432
AA Change: I589F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596
AA Change: I589F

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Aco1	T	C	4: 40,167,193 (GRCm39)		probably null	Het
Adap1	A	G	5: 139,259,096 (GRCm39)	Y364H	probably benign	Het
Add2	T	C	6: 86,073,738 (GRCm39)	F209S	probably damaging	Het
Adgb	A	T	10: 10,270,993 (GRCm39)	D883E	probably benign	Het
Anapc1	C	A	2: 128,475,335 (GRCm39)	R1381S	probably benign	Het
Aoah	A	G	13: 20,978,564 (GRCm39)	M1V	probably null	Het
Arap1	C	A	7: 101,022,222 (GRCm39)	A8E	probably damaging	Het
Arhgap10	A	G	8: 78,136,255 (GRCm39)	F319S	possibly damaging	Het
Btrc	T	G	19: 45,515,782 (GRCm39)	I480S	probably damaging	Het
Cabin1	A	T	10: 75,570,924 (GRCm39)	V784E	possibly damaging	Het
Card9	T	A	2: 26,244,885 (GRCm39)		probably null	Het
Cdk18	A	G	1: 132,045,559 (GRCm39)	I238T	possibly damaging	Het
Clec12a	A	C	6: 129,327,444 (GRCm39)	T21P	possibly damaging	Het
Commd3	A	T	2: 18,678,774 (GRCm39)	I70F	probably benign	Het
Cspg5	G	A	9: 110,080,094 (GRCm39)	V340M	probably damaging	Het
Cyb5r4	G	A	9: 86,937,902 (GRCm39)	S307N	possibly damaging	Het
Cyp26c1	T	A	19: 37,675,825 (GRCm39)	F230I	probably damaging	Het
Ddx11	A	G	17: 66,437,723 (GRCm39)	M150V	probably benign	Het
Dennd4b	A	G	3: 90,176,080 (GRCm39)	Y190C	probably damaging	Het
Det1	A	G	7: 78,493,191 (GRCm39)	V271A	probably benign	Het
Dgkd	C	A	1: 87,857,549 (GRCm39)	P754T	possibly damaging	Het
Dhx36	T	C	3: 62,386,806 (GRCm39)	S649G	probably benign	Het
Dlgap5	A	G	14: 47,653,843 (GRCm39)	I62T	possibly damaging	Het
Dmgdh	A	G	13: 93,857,067 (GRCm39)	M724V	probably benign	Het
Dnah7a	A	G	1: 53,724,142 (GRCm39)	S108P	probably benign	Het
Dock4	A	T	12: 40,760,797 (GRCm39)	K495M	probably damaging	Het
Dse	A	G	10: 34,036,202 (GRCm39)	Y225H	probably damaging	Het
Emx1	G	A	6: 85,180,916 (GRCm39)	R211K	probably damaging	Het
Ergic2	A	G	6: 148,100,852 (GRCm39)		probably null	Het
Fbxo27	G	A	7: 28,397,797 (GRCm39)	C277Y	possibly damaging	Het
Fcrl1	T	C	3: 87,283,827 (GRCm39)	I9T	possibly damaging	Het
Fjx1	T	C	2: 102,281,152 (GRCm39)	E261G	probably benign	Het
Flacc1	A	T	1: 58,698,437 (GRCm39)	V327D	possibly damaging	Het
Flnb	C	T	14: 7,884,735 (GRCm38)	Q445*	probably null	Het
Flrt2	G	A	12: 95,747,074 (GRCm39)	V471I	probably benign	Het
Frmd4a	G	A	2: 4,539,997 (GRCm39)	V210M	probably damaging	Het
Fsip2	A	G	2: 82,821,894 (GRCm39)	K5876E	probably benign	Het
Galnt10	T	C	11: 57,656,443 (GRCm39)	L209P	probably damaging	Het
Gata5	A	T	2: 179,968,729 (GRCm39)	S382T	possibly damaging	Het
Glt6d1	C	A	2: 25,684,425 (GRCm39)	V194L	probably damaging	Het
Gm10803	T	G	2: 93,394,288 (GRCm39)	V20G	unknown	Het
Gm44511	T	G	6: 128,797,234 (GRCm39)	T52P	probably damaging	Het
Gpat4	A	T	8: 23,672,952 (GRCm39)	L88Q	possibly damaging	Het
Gpr15	T	A	16: 58,538,370 (GRCm39)	I240L	probably benign	Het
Hivep2	A	T	10: 14,008,453 (GRCm39)	I1684F	probably benign	Het
Hmcn1	T	C	1: 150,525,427 (GRCm39)	T3366A	probably benign	Het
Hnmt	A	G	2: 23,893,894 (GRCm39)	V200A	possibly damaging	Het
Hps6	A	T	19: 45,992,774 (GRCm39)	H237L	probably benign	Het
Hspg2	C	T	4: 137,292,206 (GRCm39)	P4033S	probably damaging	Het
Ift70b	C	T	2: 75,767,443 (GRCm39)	E437K	probably benign	Het
Irf9	T	A	14: 55,845,174 (GRCm39)	S297T	possibly damaging	Het
Kdm3b	T	C	18: 34,945,448 (GRCm39)	V753A	possibly damaging	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kif27	T	G	13: 58,440,937 (GRCm39)	R1159S	probably benign	Het
Krtap4-16	A	G	11: 99,742,373 (GRCm39)	V9A	unknown	Het
Lama2	G	T	10: 27,298,614 (GRCm39)	P161T	probably damaging	Het
Ltbp4	G	A	7: 27,028,443 (GRCm39)	P273L	unknown	Het
Lvrn	T	A	18: 47,027,784 (GRCm39)	S866R	probably damaging	Het
Med13	A	G	11: 86,189,805 (GRCm39)	Y1035H	probably damaging	Het
Mertk	T	A	2: 128,601,010 (GRCm39)	N331K	probably damaging	Het
Mios	T	A	6: 8,215,437 (GRCm39)	F211Y	probably benign	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Mphosph9	A	T	5: 124,453,764 (GRCm39)	S183T	possibly damaging	Het
Mrto4	A	T	4: 139,076,949 (GRCm39)	I56N	probably damaging	Het
Muc5b	T	C	7: 141,416,374 (GRCm39)	C3107R	possibly damaging	Het
Ncoa2	A	G	1: 13,230,476 (GRCm39)	Y1023H	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Nlrp6	GAGAAGAAGAAGAAGAAGAAGA	GAGAAGAAGAAGAAGAAGA	7: 140,504,026 (GRCm39)		probably benign	Het
Nr2f1	T	C	13: 78,337,935 (GRCm39)	T237A	probably damaging	Het
Nup205	C	A	6: 35,210,301 (GRCm39)	Q1621K	probably benign	Het
Nup50l	A	G	6: 96,142,250 (GRCm39)	S265P	possibly damaging	Het
Nxpe2	T	A	9: 48,231,026 (GRCm39)	S448C	probably benign	Het
Ogdh	T	A	11: 6,296,638 (GRCm39)	C498S	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or14a256	A	T	7: 86,265,639 (GRCm39)	F71L	probably benign	Het
Or2ag15	T	C	7: 106,340,601 (GRCm39)	E180G	probably damaging	Het
Or2d2	A	T	7: 106,727,717 (GRCm39)	D294E	possibly damaging	Het
Or5ak24	T	C	2: 85,260,963 (GRCm39)	D70G	probably damaging	Het
Or5d46	T	C	2: 88,170,545 (GRCm39)	L212P	probably damaging	Het
Or6p1	A	T	1: 174,258,471 (GRCm39)	K159M	probably damaging	Het
Or8s8	T	C	15: 98,354,634 (GRCm39)	S148P	probably damaging	Het
Pcdhb9	T	A	18: 37,536,369 (GRCm39)	Y788N	probably damaging	Het
Pcsk5	T	C	19: 17,410,782 (GRCm39)	D1870G	unknown	Het
Pde6g	A	G	11: 120,338,962 (GRCm39)	L76P	probably damaging	Het
Peak1	A	T	9: 56,114,073 (GRCm39)	Y593N	probably damaging	Het
Pfas	C	T	11: 68,885,110 (GRCm39)	G16R	probably damaging	Het
Pkd1l2	A	T	8: 117,769,970 (GRCm39)		probably null	Het
Pla2g3	C	T	11: 3,440,983 (GRCm39)	T316I	probably benign	Het
Ptpru	T	A	4: 131,530,788 (GRCm39)	I489F	probably damaging	Het
Rere	T	G	4: 150,553,247 (GRCm39)	H146Q	probably benign	Het
Rundc1	A	T	11: 101,322,322 (GRCm39)	Q272L	probably damaging	Het
Scml4	T	C	10: 42,832,017 (GRCm39)	L305P	probably damaging	Het
Sec16a	A	T	2: 26,320,144 (GRCm39)	H1431Q	probably benign	Het
Serpina1a	G	A	12: 103,820,059 (GRCm39)	Q373*	probably null	Het
Shank1	A	T	7: 43,974,801 (GRCm39)	N377I	unknown	Het
Shc2	T	C	10: 79,462,625 (GRCm39)		probably null	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Smim8	C	T	4: 34,771,316 (GRCm39)	R26Q	probably damaging	Het
Smox	C	A	2: 131,362,384 (GRCm39)	A221D	probably damaging	Het
Sox5	A	G	6: 143,819,831 (GRCm39)	S62P	possibly damaging	Het
Spg21	A	C	9: 65,391,774 (GRCm39)	K240N	probably damaging	Het
Sv2c	C	T	13: 96,113,153 (GRCm39)	V599M	probably damaging	Het
Tanc2	T	A	11: 105,801,121 (GRCm39)	H1112Q	probably damaging	Het
Tbata	T	C	10: 61,011,623 (GRCm39)	I58T	possibly damaging	Het
Tbc1d2	T	G	4: 46,606,419 (GRCm39)	Y842S	probably benign	Het
Tctn1	A	T	5: 122,379,903 (GRCm39)		probably null	Het
Tenm1	T	C	X: 41,916,078 (GRCm39)	D402G	probably benign	Het
Tfcp2l1	T	C	1: 118,597,119 (GRCm39)	V400A	probably benign	Het
Tm9sf2	T	A	14: 122,363,576 (GRCm39)	L99I	probably benign	Het
Top2a	T	C	11: 98,886,803 (GRCm39)		probably null	Het
Traf7	C	A	17: 24,732,255 (GRCm39)	G191C	probably damaging	Het
Trpm1	T	A	7: 63,879,978 (GRCm39)	L661Q	probably damaging	Het
Ttn	T	C	2: 76,580,967 (GRCm39)	I23309V	probably benign	Het
Usp50	T	C	2: 126,619,881 (GRCm39)	K199E	possibly damaging	Het
Vmn1r218	T	C	13: 23,320,683 (GRCm39)	F10S	probably damaging	Het
Vmn2r89	C	A	14: 51,694,897 (GRCm39)	T459K	probably benign	Het
Vps13a	T	G	19: 16,655,302 (GRCm39)	S1909R	possibly damaging	Het
Vwa5b2	T	C	16: 20,420,941 (GRCm39)		probably null	Het
Vwa8	A	G	14: 79,219,800 (GRCm39)	H516R	possibly damaging	Het
Wnk1	T	C	6: 119,946,208 (GRCm39)	I648M	probably damaging	Het
Zfat	G	C	15: 68,018,392 (GRCm39)	P974R	probably benign	Het
Zfc3h1	T	A	10: 115,259,158 (GRCm39)	I1601K	probably benign	Het
Zfp239	A	G	6: 117,848,778 (GRCm39)	K172R	probably benign	Het
Zfp335	C	T	2: 164,736,722 (GRCm39)	G971D	probably damaging	Het
Zfp532	A	T	18: 65,757,563 (GRCm39)	I499F	probably damaging	Het
Zfp647	T	C	15: 76,795,314 (GRCm39)	T449A	possibly damaging	Het
Zfp938	C	T	10: 82,061,465 (GRCm39)	G385D	probably damaging	Het
Zfp959	T	G	17: 56,204,404 (GRCm39)	V147G	probably damaging	Het
Znfx1	A	T	2: 166,892,270 (GRCm39)	C649S	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
R1908:Slc7a2	UTSW	8	41,369,534 (GRCm39)	missense	probably benign
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'- GCAAGTAATGTGAAAGTGACTTTCC -3'
(R):5'- AATGCTGAGATGTTCTTGGAAGTC -3'

Sequencing Primer
(F):5'- CTTTCACTACTTCCTACAGAACTGG -3'
(R):5'- TGGAAGGAAATTAACAGAGCTTTTAG -3'

Posted On

2014-08-01