Mutagenetix > Incidental Mutation

Incidental Mutation 'R0624:Slc7a2'

58816

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

038813-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41315404-41375107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41361568 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 414 (S414T)

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: S397T

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596
AA Change: S397T

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

SMART Domains

Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596

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

SMART Domains

Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596

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: S414T

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596
AA Change: S414T

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

0.1236

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.2%

Validation Efficiency

98% (88/90)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,030,446 (GRCm39)	D767V	probably damaging	Het
Add1	T	A	5: 34,763,197 (GRCm39)	N128K	probably damaging	Het
Ado	A	T	10: 67,384,058 (GRCm39)	D182E	probably benign	Het
Anapc4	T	A	5: 53,002,761 (GRCm39)		probably benign	Het
Ano10	A	G	9: 122,088,661 (GRCm39)		probably benign	Het
Apba2	A	G	7: 64,364,263 (GRCm39)		probably null	Het
Apc2	A	G	10: 80,150,417 (GRCm39)	T1795A	probably benign	Het
Atp4a	A	G	7: 30,418,424 (GRCm39)	N571D	probably benign	Het
Birc6	A	G	17: 74,887,344 (GRCm39)	N891D	probably benign	Het
Bltp2	G	A	11: 78,159,283 (GRCm39)	E494K	probably damaging	Het
Car3	G	T	3: 14,931,864 (GRCm39)	M78I	probably benign	Het
Cc2d2a	A	T	5: 43,887,371 (GRCm39)	H1267L	probably benign	Het
Cdk18	A	G	1: 132,046,610 (GRCm39)	L192P	probably damaging	Het
Cdk9	A	T	2: 32,599,836 (GRCm39)	Y134N	probably damaging	Het
Ceacam5	A	T	7: 17,448,888 (GRCm39)	T85S	probably benign	Het
Cenpe	A	G	3: 134,952,347 (GRCm39)	T1403A	probably benign	Het
Chd8	C	T	14: 52,457,214 (GRCm39)	G918D	possibly damaging	Het
Csnk1e	T	A	15: 79,304,098 (GRCm39)		probably benign	Het
Dctpp1	A	T	7: 126,856,365 (GRCm39)	I119N	probably damaging	Het
Defb34	T	A	8: 19,173,784 (GRCm39)	F6Y	unknown	Het
Dnai4	T	C	4: 102,930,054 (GRCm39)		probably benign	Het
Dvl1	C	G	4: 155,939,232 (GRCm39)	N248K	probably damaging	Het
Dync1h1	T	C	12: 110,618,181 (GRCm39)		probably benign	Het
Dync2i1	T	C	12: 116,211,910 (GRCm39)	D199G	probably damaging	Het
Eml5	T	A	12: 98,831,738 (GRCm39)	R407W	probably damaging	Het
Epb41l5	T	C	1: 119,551,688 (GRCm39)	D99G	probably damaging	Het
Fat1	A	T	8: 45,504,205 (GRCm39)	N4566I	possibly damaging	Het
Gm21834	T	C	17: 58,049,015 (GRCm39)	E67G	possibly damaging	Het
Gsap	T	A	5: 21,458,949 (GRCm39)		probably null	Het
Guf1	T	C	5: 69,715,923 (GRCm39)	I108T	probably damaging	Het
Hsd3b5	T	C	3: 98,526,720 (GRCm39)	D242G	probably damaging	Het
Kcna7	A	G	7: 45,059,114 (GRCm39)	D467G	probably null	Het
Lars1	A	G	18: 42,375,849 (GRCm39)		probably benign	Het
Lrrc56	A	T	7: 140,786,366 (GRCm39)	D248V	probably damaging	Het
Map3k14	T	A	11: 103,133,117 (GRCm39)	E27V	possibly damaging	Het
Med12l	G	A	3: 58,945,123 (GRCm39)	W116*	probably null	Het
Mgll	A	G	6: 88,702,799 (GRCm39)	R33G	probably damaging	Het
Mmp13	A	G	9: 7,280,221 (GRCm39)	S384G	possibly damaging	Het
Nalcn	C	T	14: 123,607,444 (GRCm39)	C675Y	probably benign	Het
Nrxn1	A	G	17: 91,396,117 (GRCm39)	L13P	unknown	Het
Ocstamp	A	G	2: 165,239,772 (GRCm39)	V138A	probably damaging	Het
Or12e8	T	G	2: 87,188,026 (GRCm39)	Y79*	probably null	Het
Or2z8	T	A	8: 72,812,006 (GRCm39)	S161T	possibly damaging	Het
Or4a68	A	G	2: 89,270,482 (GRCm39)	V47A	possibly damaging	Het
Or4f7	T	C	2: 111,645,056 (GRCm39)	N5S	probably damaging	Het
Or5p51	A	G	7: 107,444,323 (GRCm39)	S206P	possibly damaging	Het
Or9i1b	T	G	19: 13,896,808 (GRCm39)	C141W	probably damaging	Het
Patj	T	C	4: 98,569,472 (GRCm39)		probably benign	Het
Pcdhb22	A	G	18: 37,651,780 (GRCm39)	I83V	probably benign	Het
Pclo	A	G	5: 14,719,670 (GRCm39)	E1269G	unknown	Het
Plagl2	T	C	2: 153,077,973 (GRCm39)	T3A	probably benign	Het
Plcb1	C	T	2: 135,136,831 (GRCm39)	P309S	possibly damaging	Het
Pld3	A	T	7: 27,239,000 (GRCm39)	L175Q	possibly damaging	Het
Prrx1	A	G	1: 163,075,974 (GRCm39)		probably benign	Het
Psap	T	G	10: 60,135,345 (GRCm39)		probably benign	Het
Ptgfr	G	A	3: 151,540,839 (GRCm39)	T223M	probably damaging	Het
Reep2	A	T	18: 34,973,824 (GRCm39)	I6F	probably benign	Het
Rraga	A	G	4: 86,494,454 (GRCm39)	E100G	probably benign	Het
Rrm2b	T	C	15: 37,931,889 (GRCm39)	D37G	probably benign	Het
Rtl1	T	C	12: 109,559,153 (GRCm39)	I895M	probably damaging	Het
Ryr1	G	A	7: 28,774,034 (GRCm39)	A2445V	probably damaging	Het
Sbf1	C	T	15: 89,186,532 (GRCm39)	D898N	possibly damaging	Het
Sh3d19	G	A	3: 86,022,213 (GRCm39)	V548I	possibly damaging	Het
Shf	C	A	2: 122,199,116 (GRCm39)		probably benign	Het
Sipa1l3	T	C	7: 29,086,676 (GRCm39)	E638G	probably damaging	Het
Slc13a3	G	T	2: 165,253,807 (GRCm39)	P449T	probably damaging	Het
Slc2a13	C	T	15: 91,234,215 (GRCm39)	V374I	possibly damaging	Het
Slc4a7	T	C	14: 14,794,059 (GRCm38)		probably null	Het
Slc9c1	A	G	16: 45,393,719 (GRCm39)	E554G	probably benign	Het
Smad2	T	C	18: 76,433,064 (GRCm39)	I332T	probably damaging	Het
Snrnp40	C	T	4: 130,256,451 (GRCm39)	P59S	probably damaging	Het
Sorcs2	A	T	5: 36,222,777 (GRCm39)	I154N	probably damaging	Het
Sort1	G	A	3: 108,255,946 (GRCm39)	G631S	probably damaging	Het
Sox10	T	C	15: 79,043,586 (GRCm39)	D149G	possibly damaging	Het
Spn	C	T	7: 126,735,380 (GRCm39)	V376M	possibly damaging	Het
Tacc2	A	G	7: 130,179,239 (GRCm39)	D9G	probably damaging	Het
Tapt1	T	G	5: 44,334,448 (GRCm39)	L514F	possibly damaging	Het
Tcf3	A	G	10: 80,249,168 (GRCm39)	L480P	probably damaging	Het
Tenm4	G	C	7: 96,423,227 (GRCm39)	G637A	probably damaging	Het
Tex14	T	A	11: 87,411,525 (GRCm39)	N950K	probably benign	Het
Tgfbrap1	T	G	1: 43,098,289 (GRCm39)	H497P	probably benign	Het
Tnfrsf18	A	T	4: 156,110,986 (GRCm39)	Y48F	possibly damaging	Het
Tnxb	A	C	17: 34,902,522 (GRCm39)	H1002P	probably damaging	Het
Ttn	A	G	2: 76,593,571 (GRCm39)		probably benign	Het
Ugt2b34	C	G	5: 87,041,591 (GRCm39)		probably null	Het
Vldlr	A	G	19: 27,215,663 (GRCm39)	D220G	possibly damaging	Het
Vmn1r33	A	T	6: 66,589,121 (GRCm39)	Y144*	probably null	Het
Xrcc4	T	C	13: 90,140,594 (GRCm39)	E205G	possibly 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
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'- CCCAATGCCTCGTGTAATCTATGCT -3'
(R):5'- TGCACATTTGTTAGATGCCTGAATGGT -3'

Sequencing Primer
(F):5'- GGGGGATCATTTTTCATCAAGAACTC -3'
(R):5'- GAATTTAGTGTTTCACCATCACCG -3'

Posted On

2013-07-11