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

NE transporter, Slc6a5, NET, norepinephrine transporter

MMRRC Submission

038821-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R0632 (G1)

Quality Score

142

Status

Validated

Chromosome

Chromosomal Location

93687100-93728295 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 93719429 bp (GRCm39)

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
Acaa1a	T	A	9: 119,176,884 (GRCm39)		probably benign	Het
Adgrg7	T	A	16: 56,562,952 (GRCm39)	T462S	possibly damaging	Het
Akap6	A	T	12: 52,983,931 (GRCm39)	N825I	probably damaging	Het
Ankib1	T	A	5: 3,822,529 (GRCm39)	N59I	probably benign	Het
Anks6	T	C	4: 47,033,167 (GRCm39)	S633G	possibly damaging	Het
Ap4e1	C	A	2: 126,891,200 (GRCm39)	Y522*	probably null	Het
Art5	G	A	7: 101,747,164 (GRCm39)	T205I	probably damaging	Het
Ascc2	T	A	11: 4,599,855 (GRCm39)	L176H	probably damaging	Het
Atp13a5	T	C	16: 29,117,026 (GRCm39)	D529G	probably benign	Het
C2cd4a	T	C	9: 67,738,845 (GRCm39)	E66G	probably benign	Het
C8a	T	C	4: 104,713,689 (GRCm39)	D147G	probably damaging	Het
Ccdc14	T	C	16: 34,542,019 (GRCm39)	V532A	possibly damaging	Het
Ccdc88a	T	A	11: 29,432,749 (GRCm39)		probably benign	Het
Cfap54	C	T	10: 92,720,958 (GRCm39)	E2543K	unknown	Het
Cldn13	C	T	5: 134,943,601 (GRCm39)	E195K	probably benign	Het
Cp	A	G	3: 20,025,246 (GRCm39)	S402G	probably null	Het
Cpa3	T	C	3: 20,279,358 (GRCm39)	T194A	probably benign	Het
Crygf	C	A	1: 65,967,156 (GRCm39)	Y93*	probably null	Het
Ctsh	A	G	9: 89,943,635 (GRCm39)	R87G	possibly damaging	Het
Cyp2t4	A	G	7: 26,857,671 (GRCm39)	D428G	possibly damaging	Het
Dnah17	C	G	11: 117,958,508 (GRCm39)		probably benign	Het
Dnah3	A	G	7: 119,567,128 (GRCm39)	V2366A	probably benign	Het
Dscaml1	A	T	9: 45,643,432 (GRCm39)	I1284F	probably benign	Het
Dsg1c	T	C	18: 20,405,403 (GRCm39)		probably benign	Het
Dst	G	T	1: 34,310,494 (GRCm39)	R4098L	probably damaging	Het
Efhb	A	G	17: 53,720,487 (GRCm39)		probably benign	Het
Epha7	A	T	4: 28,821,104 (GRCm39)	I90F	probably damaging	Het
Fam171a2	T	A	11: 102,328,707 (GRCm39)	D684V	probably damaging	Het
Fan1	A	G	7: 64,012,947 (GRCm39)	V665A	possibly damaging	Het
Fbn2	A	G	18: 58,170,819 (GRCm39)	C2191R	probably damaging	Het
Fkbp3	G	A	12: 65,120,692 (GRCm39)	A2V	probably benign	Het
G6pd2	A	G	5: 61,967,514 (GRCm39)	N430D	probably benign	Het
Gm13547	T	A	2: 29,651,596 (GRCm39)	D7E	possibly damaging	Het
H4c9	G	T	13: 22,225,197 (GRCm39)	Y99*	probably null	Het
Hdac5	A	T	11: 102,096,638 (GRCm39)	D260E	probably damaging	Het
Hsf2bp	T	C	17: 32,232,320 (GRCm39)	E142G	probably damaging	Het
Igf1r	C	T	7: 67,814,903 (GRCm39)	T268I	probably damaging	Het
Inava	T	C	1: 136,155,356 (GRCm39)	D83G	probably benign	Het
Kcne3	C	T	7: 99,833,646 (GRCm39)	R88C	probably damaging	Het
Klk1b9	G	T	7: 43,628,796 (GRCm39)	G100V	possibly damaging	Het
Kmt2d	G	A	15: 98,751,462 (GRCm39)		probably benign	Het
Lama1	C	T	17: 68,059,363 (GRCm39)		probably benign	Het
Lcp2	C	T	11: 34,032,426 (GRCm39)	P335S	possibly damaging	Het
Lrrk2	T	A	15: 91,680,231 (GRCm39)	N2047K	probably damaging	Het
Mcub	T	C	3: 129,712,375 (GRCm39)	M167V	probably benign	Het
Mia2	T	C	12: 59,182,929 (GRCm39)	L36P	probably damaging	Het
Mmp13	G	A	9: 7,274,032 (GRCm39)	G169R	probably damaging	Het
Mmp13	A	T	9: 7,282,077 (GRCm39)	I460F	possibly damaging	Het
Msh4	A	G	3: 153,602,532 (GRCm39)	I232T	probably damaging	Het
Msra	T	A	14: 64,447,981 (GRCm39)	M145L	probably benign	Het
Myo7a	A	T	7: 97,761,357 (GRCm39)		probably benign	Het
Nme8	A	T	13: 19,842,206 (GRCm39)	N422K	probably damaging	Het
Nol6	A	T	4: 41,121,115 (GRCm39)	F353I	probably damaging	Het
Nphp3	A	G	9: 103,895,473 (GRCm39)	K384E	probably damaging	Het
Or51h5	C	T	7: 102,577,811 (GRCm39)		probably null	Het
Or52e15	A	G	7: 104,645,910 (GRCm39)	I67T	probably benign	Het
Or52h7	A	G	7: 104,213,544 (GRCm39)	I39V	probably benign	Het
Phox2b	T	G	5: 67,253,557 (GRCm39)		probably benign	Het
Plec	A	T	15: 76,057,611 (GRCm39)	S4131T	probably damaging	Het
Pptc7	G	A	5: 122,451,654 (GRCm39)		probably benign	Het
Pramel31	G	A	4: 144,090,352 (GRCm39)	C464Y	probably damaging	Het
Prpf40b	A	G	15: 99,214,170 (GRCm39)	E810G	probably benign	Het
Ptprc	C	T	1: 138,001,348 (GRCm39)	V965I	probably benign	Het
Pum1	T	A	4: 130,455,415 (GRCm39)	M180K	probably benign	Het
Ranbp3	T	C	17: 57,009,896 (GRCm39)		probably benign	Het
Rasgrf2	A	G	13: 92,120,393 (GRCm39)	S787P	probably benign	Het
Rnf19b	T	A	4: 128,967,344 (GRCm39)	N294K	probably damaging	Het
Samd3	A	T	10: 26,120,393 (GRCm39)	H156L	possibly damaging	Het
Serpinb6c	C	T	13: 34,064,014 (GRCm39)	R347Q	possibly damaging	Het
Slc36a3	A	G	11: 55,015,906 (GRCm39)	I416T	probably damaging	Het
Slc4a4	T	A	5: 89,277,500 (GRCm39)	F279Y	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tab2	A	G	10: 7,795,565 (GRCm39)	S232P	probably benign	Het
Tacc2	A	T	7: 130,227,325 (GRCm39)	K1356*	probably null	Het
Tmem87a	A	G	2: 120,190,023 (GRCm39)	S544P	probably damaging	Het
Trim52	T	A	14: 106,344,401 (GRCm39)	C20S	probably damaging	Het
Usp38	A	T	8: 81,740,779 (GRCm39)	V96E	probably benign	Het
Vmn2r59	T	C	7: 41,708,308 (GRCm39)	Y33C	probably damaging	Het
Vsig10l	T	G	7: 43,113,561 (GRCm39)	V171G	probably damaging	Het
Zfp957	T	A	14: 79,450,360 (GRCm39)	I480F	probably damaging	Het

Other mutations in Slc6a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Slc6a2	APN	8	93,723,685 (GRCm39)	missense	possibly damaging	0.57
IGL00864:Slc6a2	APN	8	93,722,622 (GRCm39)	missense	probably benign	0.02
IGL00910:Slc6a2	APN	8	93,722,728 (GRCm39)	missense	probably damaging	1.00
IGL01531:Slc6a2	APN	8	93,722,310 (GRCm39)	missense	probably damaging	1.00
IGL02209:Slc6a2	APN	8	93,720,688 (GRCm39)	missense	probably benign	0.41
IGL02962:Slc6a2	APN	8	93,699,390 (GRCm39)	nonsense	probably null
IGL03391:Slc6a2	APN	8	93,688,080 (GRCm39)	missense	probably damaging	1.00
H8786:Slc6a2	UTSW	8	93,721,268 (GRCm39)	missense	probably benign	0.03
R0308:Slc6a2	UTSW	8	93,687,988 (GRCm39)	missense	possibly damaging	0.83
R0765:Slc6a2	UTSW	8	93,715,659 (GRCm39)	missense	probably damaging	0.96
R1250:Slc6a2	UTSW	8	93,719,491 (GRCm39)	missense	probably benign	0.12
R1444:Slc6a2	UTSW	8	93,697,882 (GRCm39)	missense	probably damaging	0.99
R1637:Slc6a2	UTSW	8	93,708,618 (GRCm39)	missense	probably benign	0.00
R1699:Slc6a2	UTSW	8	93,699,440 (GRCm39)	missense	possibly damaging	0.95
R1760:Slc6a2	UTSW	8	93,687,846 (GRCm39)	splice site	probably benign
R2046:Slc6a2	UTSW	8	93,699,554 (GRCm39)	nonsense	probably null
R2169:Slc6a2	UTSW	8	93,720,729 (GRCm39)	missense	probably benign	0.12
R2182:Slc6a2	UTSW	8	93,687,876 (GRCm39)	start codon destroyed	probably null	0.00
R3107:Slc6a2	UTSW	8	93,687,906 (GRCm39)	missense	probably benign	0.26
R3880:Slc6a2	UTSW	8	93,716,846 (GRCm39)	missense	probably damaging	1.00
R5092:Slc6a2	UTSW	8	93,721,347 (GRCm39)	missense	possibly damaging	0.87
R5684:Slc6a2	UTSW	8	93,715,681 (GRCm39)	missense	probably damaging	1.00
R6218:Slc6a2	UTSW	8	93,708,609 (GRCm39)	missense	probably benign
R6932:Slc6a2	UTSW	8	93,722,653 (GRCm39)	missense	probably benign	0.00
R7201:Slc6a2	UTSW	8	93,722,300 (GRCm39)	missense	probably damaging	1.00
R7910:Slc6a2	UTSW	8	93,720,766 (GRCm39)	missense	possibly damaging	0.53
R8320:Slc6a2	UTSW	8	93,719,476 (GRCm39)	missense	probably benign	0.31
R8920:Slc6a2	UTSW	8	93,687,990 (GRCm39)	missense	probably benign
R8963:Slc6a2	UTSW	8	93,715,702 (GRCm39)	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