Mutagenetix > Incidental Mutation

Incidental Mutation 'R1444:Slc6a2'

158716

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

039499-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.613) question?

Stock #

R1444 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93687100-93728295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93697882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 120 (N120S)

Ref Sequence

ENSEMBL: ENSMUSP00000129869 (fasta)

Gene Model

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

AlphaFold

O55192

Predicted Effect

probably damaging
Transcript: ENSMUST00000072939
AA Change: N120S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000072709
Gene: ENSMUSG00000055368
AA Change: N120S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165470
AA Change: N120S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129869
Gene: ENSMUSG00000055368
AA Change: N120S

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

Meta Mutation Damage Score

0.1201

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.4%
20x: 86.1%

Validation Efficiency

98% (59/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 73,205,230 (GRCm39)	D347V	probably damaging	Het
A630010A05Rik	T	A	16: 14,427,558 (GRCm39)	F82I	possibly damaging	Het
Acad9	T	A	3: 36,132,657 (GRCm39)	F297L	possibly damaging	Het
Adgrl3	A	T	5: 81,660,200 (GRCm39)	Y323F	probably damaging	Het
Brca2	T	A	5: 150,465,915 (GRCm39)	M1893K	probably benign	Het
Cactin	A	T	10: 81,158,270 (GRCm39)		probably null	Het
Cadm4	A	G	7: 24,203,046 (GRCm39)	*389W	probably null	Het
Calr4	A	G	4: 109,103,438 (GRCm39)	T183A	possibly damaging	Het
Card10	A	T	15: 78,672,041 (GRCm39)		probably benign	Het
Cdh6	C	A	15: 13,091,924 (GRCm39)	G14C	probably benign	Het
Cds1	A	G	5: 101,946,245 (GRCm39)	Y148C	probably damaging	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Cr1l	A	T	1: 194,813,510 (GRCm39)	L35Q	probably damaging	Het
Daam2	T	C	17: 49,787,779 (GRCm39)	R445G	possibly damaging	Het
Ddn	G	A	15: 98,704,485 (GRCm39)	T269M	probably damaging	Het
Epb41	G	A	4: 131,733,382 (GRCm39)	S176L	probably benign	Het
Ephx2	T	C	14: 66,344,769 (GRCm39)	D167G	probably damaging	Het
Erbb4	G	A	1: 68,293,759 (GRCm39)	R711C	probably damaging	Het
Flg2	T	A	3: 93,109,620 (GRCm39)	H549Q	unknown	Het
Gje1	A	G	10: 14,592,380 (GRCm39)		probably null	Het
Heatr5b	G	A	17: 79,060,622 (GRCm39)	H2018Y	probably benign	Het
Heatr5b	A	T	17: 79,062,856 (GRCm39)		probably benign	Het
Hectd3	G	T	4: 116,853,593 (GRCm39)	R189L	probably benign	Het
Hsd3b6	T	C	3: 98,715,237 (GRCm39)	T52A	probably benign	Het
Il10rb	T	G	16: 91,218,675 (GRCm39)		probably null	Het
Kcnc2	T	C	10: 112,291,506 (GRCm39)		probably benign	Het
Lpl	T	A	8: 69,345,399 (GRCm39)	D134E	probably damaging	Het
Lrit1	T	C	14: 36,783,928 (GRCm39)	F419L	probably benign	Het
Mmp8	T	C	9: 7,567,264 (GRCm39)	C422R	probably benign	Het
Myo18b	A	G	5: 112,923,117 (GRCm39)		probably null	Het
Ncor1	T	A	11: 62,294,632 (GRCm39)	I280F	probably damaging	Het
Obox2	A	C	7: 15,130,957 (GRCm39)	Q63P	possibly damaging	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or4d2b	T	A	11: 87,780,585 (GRCm39)	I46L	probably benign	Het
Phldb2	T	A	16: 45,577,616 (GRCm39)		probably benign	Het
Pkd1l1	A	G	11: 8,804,386 (GRCm39)	F1735S	probably damaging	Het
Pramel11	G	T	4: 143,623,461 (GRCm39)	L238I	probably benign	Het
Prss30	T	C	17: 24,192,712 (GRCm39)	Y156C	probably damaging	Het
Rnf213	T	C	11: 119,333,226 (GRCm39)	S2812P	probably damaging	Het
Rttn	A	G	18: 89,060,991 (GRCm39)	D1053G	probably benign	Het
Snrnp200	T	C	2: 127,070,158 (GRCm39)		probably benign	Het
Spindoc	G	T	19: 7,360,086 (GRCm39)	D27E	probably benign	Het
Svep1	T	C	4: 58,115,754 (GRCm39)	T980A	possibly damaging	Het
Tgfbr1	A	G	4: 47,393,259 (GRCm39)	E46G	probably benign	Het
Tmem183a	T	C	1: 134,289,284 (GRCm39)	I49V	probably benign	Het
Tmem212	C	T	3: 27,939,244 (GRCm39)	V81I	possibly damaging	Het
Toporsl	T	A	4: 52,610,254 (GRCm39)	I49N	probably benign	Het
Trim67	A	G	8: 125,549,932 (GRCm39)	T521A	probably benign	Het
Vsnl1	T	C	12: 11,382,219 (GRCm39)		probably null	Het
Wdr87-ps	T	C	7: 29,229,380 (GRCm39)		noncoding transcript	Het
Xrn2	C	T	2: 146,903,408 (GRCm39)	R803W	probably damaging	Het
Zfp131	A	T	13: 120,251,784 (GRCm39)	C9S	probably damaging	Het
Zfp750	C	T	11: 121,402,873 (GRCm39)	S625N	probably damaging	Het
Zfp871	G	T	17: 32,993,900 (GRCm39)	T406N	possibly 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
R0632:Slc6a2	UTSW	8	93,719,429 (GRCm39)	splice site	probably benign
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
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'- CGCCATGCTTACTGCTATGCCAATC -3'
(R):5'- GCAATCTTGACATCACCAGTGCCC -3'

Sequencing Primer
(F):5'- GCTTACTGCTATGCCAATCAAGTG -3'
(R):5'- CCATAGCCCCAGGTAAGAGTTG -3'

Posted On

2014-03-14