Mutagenetix > Incidental Mutation

Incidental Mutation 'R0632:Slc6a2'

59717

Institutional Source

Beutler Lab

Gene Symbol

Slc6a2

Ensembl Gene

ENSMUSG00000055368

Gene Name

solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2

Synonyms

norepinephrine transporter, NE transporter, Slc6a5, NET

MMRRC Submission

038821-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.583) question?

Stock #

R0632 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

92960079-93001667 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 92992801 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072939] [ENSMUST00000165470]

AlphaFold

O55192

Predicted Effect

probably benign
Transcript: ENSMUST00000072939

SMART Domains

Protein: ENSMUSP00000072709
Gene: ENSMUSG00000055368

Domain	Start	End	E-Value	Type
Pfam:SNF	56	580	4.7e-242	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165470

SMART Domains

Protein: ENSMUSP00000129869
Gene: ENSMUSG00000055368

Domain	Start	End	E-Value	Type
Pfam:SNF	56	580	4.7e-242	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

95% (81/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the sodium:neurotransmitter symporter family. This member is a multi-pass membrane protein, which is responsible for reuptake of norepinephrine into presynaptic nerve terminals and is a regulator of norepinephrine homeostasis. Mutations in this gene cause orthostatic intolerance, a syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
PHENOTYPE: Norepinephrine homeostasis is abnormal in homozygous mutant mice. In addition to displaying altered behavior, mutant mice are hypersensitive to psychostimulants. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730559C18Rik	T	C	1: 136,227,618	D83G	probably benign	Het
Acaa1a	T	A	9: 119,347,818		probably benign	Het
Adgrg7	T	A	16: 56,742,589	T462S	possibly damaging	Het
Akap6	A	T	12: 52,937,148	N825I	probably damaging	Het
Ankib1	T	A	5: 3,772,529	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167	S633G	possibly damaging	Het
Ap4e1	C	A	2: 127,049,280	Y522*	probably null	Het
Art5	G	A	7: 102,097,957	T205I	probably damaging	Het
Ascc2	T	A	11: 4,649,855	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,298,208	D529G	probably benign	Het
C2cd4a	T	C	9: 67,831,563	E66G	probably benign	Het
C8a	T	C	4: 104,856,492	D147G	probably damaging	Het
Ccdc109b	T	C	3: 129,918,726	M167V	probably benign	Het
Ccdc14	T	C	16: 34,721,649	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,482,749		probably benign	Het
Cfap54	C	T	10: 92,885,096	E2543K	unknown	Het
Cldn13	C	T	5: 134,914,747	E195K	probably benign	Het
Cp	A	G	3: 19,971,082	S402G	probably null	Het
Cpa3	T	C	3: 20,225,194	T194A	probably benign	Het
Crygf	C	A	1: 65,927,997	Y93*	probably null	Het
Ctsh	A	G	9: 90,061,582	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 27,158,246	D428G	possibly damaging	Het
Dnah17	C	G	11: 118,067,682		probably benign	Het
Dnah3	A	G	7: 119,967,905	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,732,134	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,272,346		probably benign	Het
Dst	G	T	1: 34,271,413	R4098L	probably damaging	Het
Efhb	A	G	17: 53,413,459		probably benign	Het
Epha7	A	T	4: 28,821,104	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,437,881	D684V	probably damaging	Het
Fan1	A	G	7: 64,363,199	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,037,747	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,073,918	A2V	probably benign	Het
G6pd2	A	G	5: 61,810,171	N430D	probably benign	Het
Gm13119	G	A	4: 144,363,782	C464Y	probably damaging	Het
Gm13547	T	A	2: 29,761,584	D7E	possibly damaging	Het
Hdac5	A	T	11: 102,205,812	D260E	probably damaging	Het
Hist1h4i	G	T	13: 22,041,027	Y99*	probably null	Het
Hsf2bp	T	C	17: 32,013,346	E142G	probably damaging	Het
Igf1r	C	T	7: 68,165,155	T268I	probably damaging	Het
Kcne3	C	T	7: 100,184,439	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,979,372	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,853,581		probably benign	Het
Lama1	C	T	17: 67,752,368		probably benign	Het
Lcp2	C	T	11: 34,082,426	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,796,028	N2047K	probably damaging	Het
Mia2	T	C	12: 59,136,143	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077	I460F	possibly damaging	Het
Msh4	A	G	3: 153,896,895	I232T	probably damaging	Het
Msra	T	A	14: 64,210,532	M145L	probably benign	Het
Myo7a	A	T	7: 98,112,150		probably benign	Het
Nme8	A	T	13: 19,658,036	N422K	probably damaging	Het
Nol6	A	T	4: 41,121,115	F353I	probably damaging	Het
Nphp3	A	G	9: 104,018,274	K384E	probably damaging	Het
Olfr572	C	T	7: 102,928,604		probably null	Het
Olfr652	A	G	7: 104,564,337	I39V	probably benign	Het
Olfr672	A	G	7: 104,996,703	I67T	probably benign	Het
Phox2b	T	G	5: 67,096,214		probably benign	Het
Plec	A	T	15: 76,173,411	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,313,591		probably benign	Het
Prpf40b	A	G	15: 99,316,289	E810G	probably benign	Het
Ptprc	C	T	1: 138,073,610	V965I	probably benign	Het
Pum1	T	A	4: 130,728,104	M180K	probably benign	Het
Ranbp3	T	C	17: 56,702,896		probably benign	Het
Rasgrf2	A	G	13: 91,972,274	S787P	probably benign	Het
Rnf19b	T	A	4: 129,073,551	N294K	probably damaging	Het
Samd3	A	T	10: 26,244,495	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 33,880,031	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,125,080	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,129,641	F279Y	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Tab2	A	G	10: 7,919,801	S232P	probably benign	Het
Tacc2	A	T	7: 130,625,595	K1356*	probably null	Het
Tmem87a	A	G	2: 120,359,542	S544P	probably damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Usp38	A	T	8: 81,014,150	V96E	probably benign	Het
Vmn2r59	T	C	7: 42,058,884	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,464,137	V171G	probably damaging	Het
Zfp957	T	A	14: 79,212,920	I480F	probably damaging	Het

Other mutations in Slc6a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Slc6a2	APN	8	92997057	missense	possibly damaging	0.57
IGL00864:Slc6a2	APN	8	92995994	missense	probably benign	0.02
IGL00910:Slc6a2	APN	8	92996100	missense	probably damaging	1.00
IGL01531:Slc6a2	APN	8	92995682	missense	probably damaging	1.00
IGL02209:Slc6a2	APN	8	92994060	missense	probably benign	0.41
IGL02962:Slc6a2	APN	8	92972762	nonsense	probably null
IGL03391:Slc6a2	APN	8	92961452	missense	probably damaging	1.00
H8786:Slc6a2	UTSW	8	92994640	missense	probably benign	0.03
R0308:Slc6a2	UTSW	8	92961360	missense	possibly damaging	0.83
R0765:Slc6a2	UTSW	8	92989031	missense	probably damaging	0.96
R1250:Slc6a2	UTSW	8	92992863	missense	probably benign	0.12
R1444:Slc6a2	UTSW	8	92971254	missense	probably damaging	0.99
R1637:Slc6a2	UTSW	8	92981990	missense	probably benign	0.00
R1699:Slc6a2	UTSW	8	92972812	missense	possibly damaging	0.95
R1760:Slc6a2	UTSW	8	92961218	splice site	probably benign
R2046:Slc6a2	UTSW	8	92972926	nonsense	probably null
R2169:Slc6a2	UTSW	8	92994101	missense	probably benign	0.12
R2182:Slc6a2	UTSW	8	92961248	start codon destroyed	probably null	0.00
R3107:Slc6a2	UTSW	8	92961278	missense	probably benign	0.26
R3880:Slc6a2	UTSW	8	92990218	missense	probably damaging	1.00
R5092:Slc6a2	UTSW	8	92994719	missense	possibly damaging	0.87
R5684:Slc6a2	UTSW	8	92989053	missense	probably damaging	1.00
R6218:Slc6a2	UTSW	8	92981981	missense	probably benign
R6932:Slc6a2	UTSW	8	92996025	missense	probably benign	0.00
R7201:Slc6a2	UTSW	8	92995672	missense	probably damaging	1.00
R7910:Slc6a2	UTSW	8	92994138	missense	possibly damaging	0.53
R8320:Slc6a2	UTSW	8	92992848	missense	probably benign	0.31
R8920:Slc6a2	UTSW	8	92961362	missense	probably benign
R8963:Slc6a2	UTSW	8	92989074	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- CAGCTTGGGAAACAGAGATCCAGAC -3'
(R):5'- GCCCTTGGAAACAGATACCAGACAG -3'

Sequencing Primer
(F):5'- gggaaacagagatccagacaatag -3'
(R):5'- CTACAGGCTGAGTGCTGGAG -3'

Posted On

2013-07-11