Mutagenetix > Incidental Mutation

Incidental Mutation 'R5249:Slc7a2'

398816

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

042820-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5249 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41315404-41375107 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41361130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 365 (Y365H)

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

SMART Domains

Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596

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: Y365H

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: Y365H

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: Y365H

PolyPhen 2 Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: Y365H

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

SMART Domains

Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596

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

0.2439

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (93/95)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,502,284 (GRCm39)	H148R	probably damaging	Het
Acrbp	A	G	6: 125,037,885 (GRCm39)	D394G	probably damaging	Het
Adam18	T	C	8: 25,115,868 (GRCm39)	T609A	probably benign	Het
Adam25	T	A	8: 41,208,991 (GRCm39)	N752K	probably benign	Het
Ano6	A	C	15: 95,811,469 (GRCm39)	S176R	probably benign	Het
Ano7	T	C	1: 93,302,918 (GRCm39)	S19P	probably benign	Het
Ap1b1	A	G	11: 4,976,364 (GRCm39)	E437G	probably damaging	Het
Arfgap2	T	A	2: 91,095,982 (GRCm39)	C46*	probably null	Het
Arhgef26	T	A	3: 62,247,981 (GRCm39)	L355Q	probably damaging	Het
B4galnt4	C	T	7: 140,644,983 (GRCm39)	T219I	probably damaging	Het
Bap1	C	T	14: 30,979,243 (GRCm39)		probably benign	Het
Catip	T	G	1: 74,401,954 (GRCm39)	L43R	probably damaging	Het
Ccdc177	G	A	12: 80,805,282 (GRCm39)	R331C	unknown	Het
Cep85l	T	C	10: 53,195,690 (GRCm39)		probably null	Het
Cfap206	T	A	4: 34,714,502 (GRCm39)	Q398L	probably benign	Het
Clec18a	A	G	8: 111,800,368 (GRCm39)	C352R	probably damaging	Het
Clic6	A	T	16: 92,336,339 (GRCm39)	Y549F	probably damaging	Het
Cpne9	C	T	6: 113,270,034 (GRCm39)		probably benign	Het
Cyb5r3	A	C	15: 83,042,836 (GRCm39)		probably benign	Het
Dnah6	C	T	6: 73,090,471 (GRCm39)	R2293K	probably damaging	Het
Dnmbp	C	A	19: 43,890,879 (GRCm39)	R296L	probably damaging	Het
Dtwd1	C	A	2: 125,996,694 (GRCm39)	Q60K	probably benign	Het
Esyt1	C	A	10: 128,352,443 (GRCm39)	V723L	probably benign	Het
Fbxo42	T	C	4: 140,926,335 (GRCm39)	L339P	probably damaging	Het
Furin	A	T	7: 80,043,169 (GRCm39)	N347K	probably damaging	Het
Fzd7	T	C	1: 59,522,522 (GRCm39)	M135T	probably damaging	Het
Garin1b	A	G	6: 29,323,896 (GRCm39)	D207G	probably damaging	Het
Hlf	A	G	11: 90,278,632 (GRCm39)	M144T	probably benign	Het
Hyal5	C	T	6: 24,876,648 (GRCm39)	Q174*	probably null	Het
Kcnb1	T	A	2: 166,947,103 (GRCm39)	M582L	possibly damaging	Het
Kdm5d	T	C	Y: 916,692 (GRCm39)	Y391H	probably damaging	Het
Khdc4	T	A	3: 88,604,032 (GRCm39)	I283N	probably damaging	Het
Kif21b	C	T	1: 136,096,966 (GRCm39)	T1297M	probably damaging	Het
Krt8	T	G	15: 101,906,875 (GRCm39)	N317T	possibly damaging	Het
Lctl	G	T	9: 64,045,196 (GRCm39)	V372L	probably benign	Het
Lig1	C	T	7: 13,042,432 (GRCm39)	H822Y	possibly damaging	Het
Lrrc4b	A	G	7: 44,111,988 (GRCm39)	D620G	possibly damaging	Het
Mboat4	C	T	8: 34,582,275 (GRCm39)	H10Y	probably benign	Het
Med1	A	T	11: 98,048,066 (GRCm39)	M910K	probably benign	Het
Mia2	A	T	12: 59,154,911 (GRCm39)	D209V	probably damaging	Het
Mpp4	C	T	1: 59,184,017 (GRCm39)		probably benign	Het
Mrgprb1	A	T	7: 48,097,225 (GRCm39)	V229E	possibly damaging	Het
Mtor	T	A	4: 148,548,189 (GRCm39)	C485S	probably damaging	Het
Mx1	T	C	16: 97,258,628 (GRCm39)	D23G	probably damaging	Het
Myrfl	T	C	10: 116,619,138 (GRCm39)	D740G	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nav2	G	A	7: 49,185,661 (GRCm39)	V874I	probably damaging	Het
Ntrk3	A	T	7: 78,110,914 (GRCm39)	N262K	possibly damaging	Het
Opa1	A	T	16: 29,437,077 (GRCm39)	D699V	probably damaging	Het
Or10u4	C	T	10: 129,802,078 (GRCm39)	A164T	probably benign	Het
Or8b51	A	G	9: 38,569,374 (GRCm39)	C105R	possibly damaging	Het
Otud7a	A	G	7: 63,407,181 (GRCm39)	N495D	possibly damaging	Het
Pcsk9	T	C	4: 106,320,950 (GRCm39)	D53G	probably benign	Het
Pdcd5	A	G	7: 35,346,421 (GRCm39)		probably benign	Het
Phf21a	C	T	2: 92,058,822 (GRCm39)	P28L	probably damaging	Het
Pitpnm1	T	A	19: 4,158,130 (GRCm39)	D573E	probably damaging	Het
Ppp1r35	C	T	5: 137,777,406 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,535,496 (GRCm39)	Q423R	probably damaging	Het
Pum1	A	T	4: 130,490,125 (GRCm39)	Y699F	probably benign	Het
Rabgef1	A	G	5: 130,241,841 (GRCm39)	D415G	probably benign	Het
Rapgef6	A	G	11: 54,413,943 (GRCm39)	E23G	probably benign	Het
Rpia	G	T	6: 70,760,563 (GRCm39)	C121*	probably null	Het
Sanbr	A	G	11: 23,525,483 (GRCm39)	*719Q	probably null	Het
Serpinb13	T	A	1: 106,926,427 (GRCm39)	W201R	probably damaging	Het
Sh3bp4	T	C	1: 89,065,456 (GRCm39)	C17R	probably damaging	Het
Sh3d21	A	G	4: 126,055,858 (GRCm39)		probably benign	Het
Slamf6	A	C	1: 171,764,249 (GRCm39)	N214T	probably damaging	Het
Sox18	T	C	2: 181,312,971 (GRCm39)		probably null	Het
Spink7	A	T	18: 62,725,507 (GRCm39)	F79I	possibly damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Sspo	A	T	6: 48,470,244 (GRCm39)	H4561L	probably damaging	Het
Tcaf1	T	C	6: 42,653,793 (GRCm39)	K700R	probably benign	Het
Tcf25	G	T	8: 124,115,372 (GRCm39)	R203L	probably damaging	Het
Tcp11	T	C	17: 28,290,757 (GRCm39)	I201V	possibly damaging	Het
Tex2	T	C	11: 106,437,615 (GRCm39)	D685G	unknown	Het
Themis	G	T	10: 28,637,195 (GRCm39)	E100*	probably null	Het
Tmem52b	G	A	6: 129,491,221 (GRCm39)		probably null	Het
Tnr	C	T	1: 159,512,226 (GRCm39)		probably benign	Het
Tox3	T	C	8: 90,975,444 (GRCm39)	I396V	probably benign	Het
Tpm2	T	A	4: 43,514,828 (GRCm39)	E269V	probably benign	Het
Tulp1	C	T	17: 28,581,651 (GRCm39)		probably benign	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Ube2j2	A	C	4: 156,033,515 (GRCm39)	K30Q	possibly damaging	Het
Usp19	T	A	9: 108,369,807 (GRCm39)	M1K	probably null	Het
Vmn2r52	C	A	7: 9,910,197 (GRCm39)	R6L	probably benign	Het
Zbed4	G	A	15: 88,665,290 (GRCm39)	V453M	probably benign	Het
Zfp319	T	C	8: 96,055,099 (GRCm39)	E368G	probably benign	Het
Zfp366	A	C	13: 99,366,117 (GRCm39)	E426A	probably damaging	Het
Zfp687	A	T	3: 94,916,777 (GRCm39)	I783N	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
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
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'- TTTGGTTGGGCAAGTAAAGAGTAAC -3'
(R):5'- ACACCTGTCCACATTTCCAGAG -3'

Sequencing Primer
(F):5'- TAACACGTGGCCATTACTGG -3'
(R):5'- GAGTTCTTGATGAAAAATGATCCCCC -3'

Posted On

2016-07-06