Mutagenetix > Incidental Mutation

Incidental Mutation 'R8979:Slc6a3'

683659

Institutional Source

Beutler Lab

Gene Symbol

Slc6a3

Ensembl Gene

ENSMUSG00000021609

Gene Name

solute carrier family 6 (neurotransmitter transporter, dopamine), member 3

Synonyms

DAT, Dat1

MMRRC Submission

068812-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8979 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73684866-73726791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 73715720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 452 (V452I)

Ref Sequence

ENSEMBL: ENSMUSP00000022100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022100]

AlphaFold

Q61327

Predicted Effect

probably benign
Transcript: ENSMUST00000022100
AA Change: V452I

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609
AA Change: V452I

Domain	Start	End	E-Value	Type
Pfam:SNF	60	582	8.1e-237	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit dwarfism, hyperactivity (especially in a novel environment), 5-fold higher extracellular dopamine levels, impaired spatial cognitive function, anterior pituitary hypoplasia, and failure to lactate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	C	3: 59,932,545 (GRCm39)	R353S	probably damaging	Het
Ablim3	C	T	18: 61,982,397 (GRCm39)	V183I	probably benign	Het
Adgrb3	T	A	1: 25,527,115 (GRCm39)	Q607L	probably benign	Het
Adgrl1	A	G	8: 84,665,015 (GRCm39)	D1234G	probably benign	Het
Alms1	A	G	6: 85,598,009 (GRCm39)	Y945C	probably damaging	Het
Arhgef26	T	A	3: 62,246,969 (GRCm39)	W18R	possibly damaging	Het
Caskin1	G	T	17: 24,717,899 (GRCm39)	A229S	possibly damaging	Het
Celsr1	A	T	15: 85,847,340 (GRCm39)	S1466T	probably damaging	Het
Cftr	T	C	6: 18,227,947 (GRCm39)	Y380H	probably benign	Het
Ciapin1	A	T	8: 95,549,753 (GRCm39)	L301Q	probably damaging	Het
Clec1b	A	G	6: 129,380,537 (GRCm39)	E151G	probably benign	Het
Cngb1	G	A	8: 96,004,913 (GRCm39)		probably benign	Het
Cntln	T	A	4: 85,048,910 (GRCm39)	V240E	probably damaging	Het
Cog5	A	G	12: 31,840,894 (GRCm39)	T240A	probably benign	Het
Col5a3	G	A	9: 20,686,597 (GRCm39)	P1343S	unknown	Het
Cspp1	T	A	1: 10,134,630 (GRCm39)	S127T	probably benign	Het
Dnah9	T	G	11: 65,895,978 (GRCm39)	M2466L	probably benign	Het
Fbn2	C	T	18: 58,286,928 (GRCm39)	G244R	probably damaging	Het
Fbxw13	A	T	9: 109,013,197 (GRCm39)	W247R	probably damaging	Het
Gbp4	G	A	5: 105,267,248 (GRCm39)	T557M	probably benign	Het
Ide	G	A	19: 37,302,711 (GRCm39)	A133V		Het
Il2rb	C	A	15: 78,376,052 (GRCm39)		probably benign	Het
Itgb1	A	G	8: 129,448,951 (GRCm39)	E519G	probably benign	Het
Kifc1	A	G	17: 34,102,228 (GRCm39)	Y462H	possibly damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Llgl1	C	T	11: 60,601,129 (GRCm39)	A689V	probably benign	Het
Lrrc37a	C	A	11: 103,393,833 (GRCm39)	V531L	possibly damaging	Het
Mid1	C	G	X: 168,768,003 (GRCm39)	P384A	probably benign	Het
Mid1	G	A	X: 168,768,009 (GRCm39)	A386T	probably benign	Het
Mms22l	C	T	4: 24,580,070 (GRCm39)	L760F	probably benign	Het
Mplkipl1	A	G	19: 61,164,169 (GRCm39)	Y89H	probably damaging	Het
Mst1r	C	T	9: 107,792,478 (GRCm39)	R951C	probably damaging	Het
Naalad2	G	A	9: 18,242,146 (GRCm39)	T586M	probably damaging	Het
Or4c108	C	T	2: 88,804,173 (GRCm39)	V21I	probably benign	Het
Oxct2b	A	G	4: 123,011,169 (GRCm39)	N363S	probably benign	Het
Padi6	T	G	4: 140,466,474 (GRCm39)	N145T	probably benign	Het
Plcl2	T	A	17: 50,947,145 (GRCm39)	M1008K	possibly damaging	Het
Plekha5	T	C	6: 140,496,818 (GRCm39)	S435P	probably damaging	Het
Prkacb	C	A	3: 146,518,411 (GRCm39)	G10C	probably benign	Het
Psg29	A	T	7: 16,937,544 (GRCm39)		probably benign	Het
Ptpn4	T	C	1: 119,671,120 (GRCm39)	T213A	probably damaging	Het
Ptpro	A	G	6: 137,345,140 (GRCm39)	I49V	probably benign	Het
Rassf1	A	G	9: 107,429,004 (GRCm39)	D70G	probably benign	Het
Rbm24	A	T	13: 46,572,531 (GRCm39)	T9S	probably damaging	Het
Rp1	T	C	1: 4,218,937 (GRCm39)	T948A	unknown	Het
Ryr2	A	T	13: 11,609,924 (GRCm39)	C4301S	probably benign	Het
S100pbp	T	C	4: 129,076,133 (GRCm39)	D64G	probably damaging	Het
Samd3	A	G	10: 26,120,428 (GRCm39)	K141E	possibly damaging	Het
Scgb1b29	A	T	7: 32,141,277 (GRCm39)	K65*	probably null	Het
Shoc1	T	C	4: 59,047,276 (GRCm39)	T1448A	possibly damaging	Het
Slc51b	T	C	9: 65,320,210 (GRCm39)	N86D	probably benign	Het
Sobp	A	G	10: 42,896,976 (GRCm39)		probably null	Het
Spats2	T	C	15: 99,110,123 (GRCm39)	S507P	possibly damaging	Het
Spns3	C	T	11: 72,420,416 (GRCm39)	A357T	probably damaging	Het
Suox	A	T	10: 128,507,367 (GRCm39)	H220Q	probably damaging	Het
Tbc1d9b	A	T	11: 50,061,809 (GRCm39)	S1106C	probably benign	Het
Tbx1	T	C	16: 18,406,745 (GRCm39)	D9G	unknown	Het
Tcaf2	A	T	6: 42,601,404 (GRCm39)	F885Y	probably damaging	Het
Tgoln1	T	C	6: 72,593,262 (GRCm39)	T73A	probably benign	Het
Tigd3	G	A	19: 5,941,853 (GRCm39)	P426S	probably benign	Het
Tmem233	T	A	5: 116,221,260 (GRCm39)		probably benign	Het
Tnfrsf11a	A	G	1: 105,754,825 (GRCm39)	D299G	possibly damaging	Het
Trim32	T	C	4: 65,531,692 (GRCm39)	V83A	possibly damaging	Het
Unc13a	A	T	8: 72,113,125 (GRCm39)	M242K	probably benign	Het
Vat1	C	T	11: 101,353,041 (GRCm39)	G293D	probably damaging	Het
Vmn1r174	T	A	7: 23,453,892 (GRCm39)	V186D	possibly damaging	Het
Wdfy3	A	G	5: 102,096,764 (GRCm39)	Y345H	probably damaging	Het
Zzef1	C	T	11: 72,766,003 (GRCm39)	T1510I	probably benign	Het

Other mutations in Slc6a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00773:Slc6a3	APN	13	73,692,860 (GRCm39)	missense	probably damaging	1.00
IGL01524:Slc6a3	APN	13	73,686,668 (GRCm39)	missense	probably benign	0.01
IGL02015:Slc6a3	APN	13	73,692,833 (GRCm39)	missense	possibly damaging	0.60
IGL03008:Slc6a3	APN	13	73,706,404 (GRCm39)	critical splice donor site	probably null
IGL03029:Slc6a3	APN	13	73,686,816 (GRCm39)	missense	probably damaging	1.00
IGL03064:Slc6a3	APN	13	73,719,585 (GRCm39)	missense	probably damaging	0.99
IGL03272:Slc6a3	APN	13	73,689,048 (GRCm39)	missense	probably damaging	0.98
IGL03294:Slc6a3	APN	13	73,705,300 (GRCm39)	critical splice donor site	probably null
IGL03345:Slc6a3	APN	13	73,719,633 (GRCm39)	missense	probably benign
IGL03410:Slc6a3	APN	13	73,686,776 (GRCm39)	missense	probably benign	0.03
disney	UTSW	13	73,693,003 (GRCm39)	missense	probably benign
dopey	UTSW	13	73,709,078 (GRCm39)	missense	probably damaging	1.00
Dopey2	UTSW	13	73,692,936 (GRCm39)	missense	probably damaging	1.00
Stiff	UTSW	13	73,705,169 (GRCm39)	missense	possibly damaging	0.85
PIT4382001:Slc6a3	UTSW	13	73,719,642 (GRCm39)	missense	probably benign	0.35
R0024:Slc6a3	UTSW	13	73,688,956 (GRCm39)	splice site	probably benign
R0125:Slc6a3	UTSW	13	73,718,098 (GRCm39)	splice site	probably benign
R0180:Slc6a3	UTSW	13	73,710,455 (GRCm39)	missense	probably damaging	1.00
R0288:Slc6a3	UTSW	13	73,709,047 (GRCm39)	missense	probably damaging	1.00
R0322:Slc6a3	UTSW	13	73,709,045 (GRCm39)	missense	possibly damaging	0.61
R0349:Slc6a3	UTSW	13	73,715,676 (GRCm39)	missense	probably damaging	1.00
R0411:Slc6a3	UTSW	13	73,705,169 (GRCm39)	missense	possibly damaging	0.85
R0594:Slc6a3	UTSW	13	73,686,761 (GRCm39)	missense	probably damaging	0.99
R0680:Slc6a3	UTSW	13	73,686,846 (GRCm39)	missense	probably damaging	1.00
R1099:Slc6a3	UTSW	13	73,715,760 (GRCm39)	missense	probably benign	0.21
R1109:Slc6a3	UTSW	13	73,705,199 (GRCm39)	missense	probably benign	0.00
R1791:Slc6a3	UTSW	13	73,714,411 (GRCm39)	missense	possibly damaging	0.82
R3916:Slc6a3	UTSW	13	73,710,427 (GRCm39)	missense	probably benign	0.00
R4279:Slc6a3	UTSW	13	73,692,953 (GRCm39)	missense	possibly damaging	0.90
R4368:Slc6a3	UTSW	13	73,709,031 (GRCm39)	nonsense	probably null
R4520:Slc6a3	UTSW	13	73,688,975 (GRCm39)	missense	possibly damaging	0.95
R4666:Slc6a3	UTSW	13	73,686,700 (GRCm39)	missense	possibly damaging	0.47
R4675:Slc6a3	UTSW	13	73,692,936 (GRCm39)	missense	probably damaging	1.00
R4716:Slc6a3	UTSW	13	73,705,195 (GRCm39)	missense	probably benign	0.04
R5243:Slc6a3	UTSW	13	73,719,570 (GRCm39)	missense	possibly damaging	0.61
R5355:Slc6a3	UTSW	13	73,709,078 (GRCm39)	missense	probably damaging	1.00
R5681:Slc6a3	UTSW	13	73,686,854 (GRCm39)	missense	probably damaging	0.99
R5737:Slc6a3	UTSW	13	73,692,923 (GRCm39)	missense	probably damaging	0.99
R6142:Slc6a3	UTSW	13	73,692,902 (GRCm39)	missense	probably benign	0.00
R6471:Slc6a3	UTSW	13	73,693,003 (GRCm39)	missense	probably benign
R7168:Slc6a3	UTSW	13	73,719,591 (GRCm39)	missense	probably benign	0.00
R7403:Slc6a3	UTSW	13	73,710,546 (GRCm39)	critical splice donor site	probably null
R8282:Slc6a3	UTSW	13	73,705,200 (GRCm39)	missense	probably benign	0.01
R8359:Slc6a3	UTSW	13	73,693,002 (GRCm39)	missense	probably benign
R8446:Slc6a3	UTSW	13	73,719,674 (GRCm39)	missense	possibly damaging	0.67
R9051:Slc6a3	UTSW	13	73,718,031 (GRCm39)	nonsense	probably null
R9377:Slc6a3	UTSW	13	73,692,966 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- ATTTCACCCCAAGTCTGCTG -3'
(R):5'- CTGCGTGCTGAATTATCTCCAG -3'

Sequencing Primer
(F):5'- GTCTGCTGTACACTCACTAAATG -3'
(R):5'- GTGCTGAATTATCTCCAGGACCAG -3'

Posted On

2021-10-11