Mutagenetix > Incidental Mutation

Incidental Mutation 'R0437:Slc7a2'

39078

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

038638-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41315404-41375107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41357563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 277 (G277D)

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: G260D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596
AA Change: G260D

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 damaging
Transcript: ENSMUST00000098816
AA Change: G260D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: G260D

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 damaging
Transcript: ENSMUST00000117077
AA Change: G260D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: G260D

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: G277D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596
AA Change: G277D

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

Meta Mutation Damage Score

0.9649

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (104/104)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	A	13: 119,606,631 (GRCm39)	R291K	probably benign	Het
Abca2	T	C	2: 25,332,857 (GRCm39)	S1519P	probably damaging	Het
Abcb11	G	A	2: 69,087,639 (GRCm39)	A1042V	probably damaging	Het
Abcc10	A	T	17: 46,623,845 (GRCm39)		probably null	Het
Abcc10	G	T	17: 46,623,846 (GRCm39)		probably benign	Het
Alkbh3	A	C	2: 93,811,914 (GRCm39)	L240V	probably damaging	Het
Apol10b	T	C	15: 77,469,608 (GRCm39)	S190G	probably benign	Het
Atp1a3	C	A	7: 24,698,392 (GRCm39)	C135F	probably benign	Het
Atp4a	C	G	7: 30,419,526 (GRCm39)	R659G	probably benign	Het
Bicra	A	G	7: 15,722,687 (GRCm39)	S277P	possibly damaging	Het
Bltp1	A	T	3: 37,043,953 (GRCm39)	H2820L	possibly damaging	Het
Bmp8a	T	C	4: 123,210,690 (GRCm39)	E275G	probably benign	Het
Ccdc102a	T	C	8: 95,640,054 (GRCm39)	E80G	probably damaging	Het
Cdh23	T	C	10: 60,246,576 (GRCm39)	D954G	probably damaging	Het
Chrm4	A	G	2: 91,758,788 (GRCm39)	T399A	possibly damaging	Het
Clcn3	A	G	8: 61,387,571 (GRCm39)	V199A	possibly damaging	Het
Crlf1	T	C	8: 70,952,164 (GRCm39)		probably null	Het
Crx	G	T	7: 15,605,071 (GRCm39)	S57*	probably null	Het
Cstpp1	A	G	2: 91,252,298 (GRCm39)	L21P	probably damaging	Het
Cyp4f16	A	G	17: 32,756,072 (GRCm39)	I34V	possibly damaging	Het
Daxx	T	C	17: 34,132,598 (GRCm39)	V576A	probably benign	Het
Ddx17	C	T	15: 79,421,672 (GRCm39)	R351H	probably damaging	Het
Dhx38	T	C	8: 110,285,261 (GRCm39)		probably benign	Het
Dnd1	T	C	18: 36,897,552 (GRCm39)		probably benign	Het
Dync1i2	A	T	2: 71,058,169 (GRCm39)		probably null	Het
E2f6	T	C	12: 16,866,446 (GRCm39)	S52P	probably benign	Het
Epb41l4a	A	G	18: 34,013,326 (GRCm39)	F116S	probably damaging	Het
Ext1	T	C	15: 52,969,502 (GRCm39)	N362S	probably damaging	Het
Fam227a	C	A	15: 79,528,189 (GRCm39)	K79N	possibly damaging	Het
Fam228a	T	A	12: 4,782,759 (GRCm39)	L111F	probably damaging	Het
Fat2	T	C	11: 55,173,625 (GRCm39)	T2363A	probably benign	Het
Fat3	A	T	9: 15,908,228 (GRCm39)	N2591K	probably damaging	Het
Frem2	A	G	3: 53,560,436 (GRCm39)	M1357T	possibly damaging	Het
Frmd4b	A	T	6: 97,400,424 (GRCm39)	V29D	probably damaging	Het
G930045G22Rik	A	G	6: 50,823,918 (GRCm39)		noncoding transcript	Het
Galnt3	A	G	2: 65,937,573 (GRCm39)	S46P	possibly damaging	Het
Gmeb2	A	G	2: 180,895,766 (GRCm39)	V468A	possibly damaging	Het
Herc2	C	T	7: 55,869,563 (GRCm39)	R4271*	probably null	Het
Il5	C	A	11: 53,614,733 (GRCm39)		probably benign	Het
Ints9	G	A	14: 65,223,818 (GRCm39)		probably benign	Het
Itga10	T	C	3: 96,556,453 (GRCm39)	F196S	probably damaging	Het
Itgb3bp	T	C	4: 99,670,126 (GRCm39)	T138A	probably damaging	Het
Kcnd1	G	A	X: 7,690,922 (GRCm39)	V281M	probably benign	Het
Lcp2	T	C	11: 34,037,229 (GRCm39)	L391P	probably benign	Het
Lrrc66	T	C	5: 73,765,030 (GRCm39)	Y671C	probably benign	Het
Mettl23	T	C	11: 116,740,120 (GRCm39)	V197A	possibly damaging	Het
Mmp15	C	A	8: 96,097,400 (GRCm39)	D456E	probably benign	Het
Mospd4	T	C	18: 46,598,848 (GRCm39)		noncoding transcript	Het
Mov10l1	C	A	15: 88,889,515 (GRCm39)	H484N	probably damaging	Het
Mphosph9	T	C	5: 124,453,631 (GRCm39)	Q197R	probably benign	Het
Ms4a1	T	A	19: 11,233,933 (GRCm39)		probably null	Het
Mybbp1a	T	C	11: 72,339,674 (GRCm39)	V919A	possibly damaging	Het
Mycbpap	A	T	11: 94,404,338 (GRCm39)		probably benign	Het
Naip6	G	A	13: 100,433,432 (GRCm39)	S1135F	possibly damaging	Het
Ndufc2	T	A	7: 97,049,544 (GRCm39)	M50K	probably benign	Het
Npr2	T	C	4: 43,648,082 (GRCm39)	V842A	probably damaging	Het
Ntsr2	G	T	12: 16,703,696 (GRCm39)	G66W	probably damaging	Het
Obscn	T	C	11: 58,885,914 (GRCm39)		probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or4c11	T	A	2: 88,695,229 (GRCm39)	N93K	probably benign	Het
Or4c114	T	A	2: 88,904,956 (GRCm39)	I160F	probably benign	Het
Or6c33	T	C	10: 129,853,965 (GRCm39)	V245A	probably damaging	Het
Or6k14	G	A	1: 173,927,965 (GRCm39)	G314R	probably benign	Het
Otud4	T	A	8: 80,396,626 (GRCm39)	H628Q	probably benign	Het
Padi6	T	C	4: 140,456,240 (GRCm39)	T585A	probably benign	Het
Pex16	G	T	2: 92,205,937 (GRCm39)	R10L	probably damaging	Het
Pitpnm2	A	G	5: 124,269,152 (GRCm39)		probably benign	Het
Pom121l2	A	G	13: 22,167,375 (GRCm39)	T549A	possibly damaging	Het
Prdm15	A	T	16: 97,613,759 (GRCm39)	M470K	probably benign	Het
Prkag2	T	A	5: 25,233,503 (GRCm39)	D49V	possibly damaging	Het
Prl3c1	A	G	13: 27,383,447 (GRCm39)	M38V	probably benign	Het
Prpf18	T	A	2: 4,648,572 (GRCm39)	I85F	possibly damaging	Het
Psg27	A	G	7: 18,294,636 (GRCm39)		probably benign	Het
Relt	A	G	7: 100,497,991 (GRCm39)		probably benign	Het
Rskr	T	C	11: 78,182,362 (GRCm39)	L57P	probably benign	Het
Serpina3b	A	T	12: 104,096,929 (GRCm39)	N70I	probably damaging	Het
Slc19a3	T	C	1: 83,000,286 (GRCm39)	S244G	probably benign	Het
Slc39a5	T	C	10: 128,235,716 (GRCm39)	T81A	possibly damaging	Het
Slc9c1	C	T	16: 45,420,250 (GRCm39)		probably benign	Het
Slx1b	A	G	7: 126,291,753 (GRCm39)	F104L	probably benign	Het
Smg6	G	A	11: 74,820,527 (GRCm39)	S266N	probably damaging	Het
Spata9	T	C	13: 76,146,614 (GRCm39)	V162A	possibly damaging	Het
Szrd1	T	C	4: 140,846,055 (GRCm39)	I47V	probably benign	Het
Tha1	G	T	11: 117,759,401 (GRCm39)	L363M	probably benign	Het
Tmc6	G	A	11: 117,669,087 (GRCm39)	T89I	possibly damaging	Het
Tmem132d	C	T	5: 127,866,849 (GRCm39)	G684R	probably damaging	Het
Trim55	G	A	3: 19,725,142 (GRCm39)	G220S	probably benign	Het
Ttn	A	G	2: 76,600,874 (GRCm39)	L18836P	probably damaging	Het
Ubn1	G	T	16: 4,890,048 (GRCm39)		probably benign	Het
Ush2a	T	G	1: 188,643,228 (GRCm39)	W4197G	probably benign	Het
Vmn1r189	A	T	13: 22,286,231 (GRCm39)	V202E	probably damaging	Het
Vmn1r209	T	C	13: 22,990,526 (GRCm39)	I55V	probably benign	Het
Vmn2r86	A	T	10: 130,282,412 (GRCm39)	C735S	probably damaging	Het
Vwf	A	T	6: 125,543,281 (GRCm39)	D174V	probably damaging	Het
Zfp438	T	C	18: 5,214,910 (GRCm39)	N16S	probably damaging	Het
Zfp444	C	T	7: 6,192,408 (GRCm39)	T142I	probably benign	Het
Zfp804a	A	G	2: 81,884,135 (GRCm39)	M1V	probably null	Het
Zfp936	T	G	7: 42,838,734 (GRCm39)	I67S	probably benign	Het
Zfp948	A	T	17: 21,807,260 (GRCm39)	N151Y	unknown	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
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
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'- AGCTTCAAGGAGCCAATGAGCAAC -3'
(R):5'- GGTAGGTGCTGCTCTTGACCATAC -3'

Sequencing Primer
(F):5'- GAGCCAATGAGCAACACCAG -3'
(R):5'- GGTTGAGAAGTTAGCATCCTTCC -3'

Posted On

2013-05-23