Mutagenetix > Incidental Mutation

Incidental Mutation 'R4716:Slc6a3'

354068

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

041983-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4716 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73684866-73726791 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 73705195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 229 (I229L)

Ref Sequence

ENSEMBL: ENSMUSP00000022100 (fasta)

Gene Model

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

AlphaFold

Q61327

Predicted Effect

probably benign
Transcript: ENSMUST00000022100
AA Change: I229L

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000022100
Gene: ENSMUSG00000021609
AA Change: I229L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,471,088 (GRCm39)	R578*	probably null	Het
Adam8	T	A	7: 139,563,851 (GRCm39)	D717V	probably benign	Het
Aknad1	T	C	3: 108,682,417 (GRCm39)		probably null	Het
Alk	A	T	17: 72,512,937 (GRCm39)	W341R	probably damaging	Het
Ankdd1b	G	A	13: 96,591,091 (GRCm39)	Q101*	probably null	Het
Anpep	A	C	7: 79,476,380 (GRCm39)	S829A	probably benign	Het
Armh3	A	G	19: 45,948,781 (GRCm39)	S233P	probably damaging	Het
Ate1	A	T	7: 130,115,511 (GRCm39)	C72S	probably damaging	Het
Atp6v0a4	G	A	6: 38,037,999 (GRCm39)	L533F	probably damaging	Het
Bach1	T	C	16: 87,512,267 (GRCm39)		probably benign	Het
Baz2b	T	C	2: 59,799,599 (GRCm39)	D240G	probably benign	Het
Cdc14b	C	T	13: 64,357,014 (GRCm39)	S21N	probably damaging	Het
Cdh3	A	G	8: 107,270,520 (GRCm39)	I466V	probably benign	Het
Cog1	A	G	11: 113,547,923 (GRCm39)	E137G	probably damaging	Het
Col4a2	A	G	8: 11,452,224 (GRCm39)	D180G	probably damaging	Het
Cyp2c40	A	T	19: 39,791,105 (GRCm39)		probably null	Het
Dclk2	C	T	3: 86,827,188 (GRCm39)	R97H	probably damaging	Het
Ddx52	T	C	11: 83,846,031 (GRCm39)		probably null	Het
Dhx58	C	T	11: 100,587,797 (GRCm39)		probably null	Het
Dmp1	T	A	5: 104,360,427 (GRCm39)	S368T	probably damaging	Het
Dnah17	C	A	11: 117,964,474 (GRCm39)	V2435L	probably benign	Het
Dnajc7	A	G	11: 100,510,402 (GRCm39)	V10A	probably benign	Het
Dscam	G	T	16: 96,420,771 (GRCm39)	T1705K	possibly damaging	Het
Dscaml1	G	A	9: 45,361,890 (GRCm39)	V217M	probably damaging	Het
Dync2h1	A	G	9: 7,142,648 (GRCm39)		probably null	Het
F5	A	G	1: 164,021,488 (GRCm39)	D1321G	probably damaging	Het
Fam174a	C	T	1: 95,241,770 (GRCm39)	P77S	probably benign	Het
Fars2	G	A	13: 36,389,051 (GRCm39)	R180H	probably damaging	Het
Fnbp1	T	C	2: 30,945,532 (GRCm39)	T154A	probably benign	Het
Fsip2	T	A	2: 82,805,203 (GRCm39)	N507K	probably damaging	Het
Glg1	G	T	8: 111,887,407 (GRCm39)	Y449*	probably null	Het
Gm15130	A	T	2: 110,964,560 (GRCm39)	Y187*	probably null	Het
Gm973	A	T	1: 59,591,713 (GRCm39)	K366*	probably null	Het
H2bc11	T	A	13: 22,227,533 (GRCm39)	V45E	possibly damaging	Het
Hao1	A	G	2: 134,347,540 (GRCm39)	I255T	probably damaging	Het
Herc6	T	A	6: 57,575,423 (GRCm39)	V148E	probably damaging	Het
Insm2	T	A	12: 55,647,677 (GRCm39)	C474S	possibly damaging	Het
Itch	T	C	2: 155,052,502 (GRCm39)		probably null	Het
Itga2	A	G	13: 114,993,909 (GRCm39)	V748A	probably damaging	Het
Itga9	T	A	9: 118,510,826 (GRCm39)	S452T	probably damaging	Het
Kdm4b	C	A	17: 56,693,178 (GRCm39)	D338E	probably benign	Het
Krt40	G	A	11: 99,431,045 (GRCm39)	R155C	probably damaging	Het
Krtap16-1	A	G	11: 99,876,000 (GRCm39)	V468A	probably damaging	Het
Lactb2	G	A	1: 13,708,619 (GRCm39)	P143L	probably damaging	Het
Lrba	C	A	3: 86,550,021 (GRCm39)	T2330K	probably damaging	Het
Lrp2bp	A	T	8: 46,466,208 (GRCm39)	I106F	probably benign	Het
Luzp2	A	G	7: 54,485,710 (GRCm39)	K2E	probably damaging	Het
Lypd6	T	C	2: 50,078,855 (GRCm39)		probably null	Het
Maml1	A	T	11: 50,148,694 (GRCm39)	D1015E	probably benign	Het
Mdfi	T	G	17: 48,131,906 (GRCm39)	D106A	possibly damaging	Het
Olfm3	T	C	3: 114,874,755 (GRCm39)	M17T	probably benign	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or2o1	A	G	11: 49,051,717 (GRCm39)	Y292C	probably damaging	Het
Or8c16	T	A	9: 38,130,714 (GRCm39)	N198K	probably damaging	Het
Or8g30	A	G	9: 39,230,725 (GRCm39)	F62L	probably benign	Het
Otud7b	T	G	3: 96,058,227 (GRCm39)	L261V	probably damaging	Het
P2ry1	A	G	3: 60,910,893 (GRCm39)	N11D	probably damaging	Het
Pate2	T	C	9: 35,596,978 (GRCm39)		probably benign	Het
Pcdhb16	A	T	18: 37,612,458 (GRCm39)	T473S	probably benign	Het
Per1	A	G	11: 68,992,057 (GRCm39)	E137G	probably damaging	Het
Phf11d	T	C	14: 59,590,791 (GRCm39)	T189A	probably benign	Het
Pik3r5	C	A	11: 68,386,030 (GRCm39)	S738R	possibly damaging	Het
Pikfyve	A	G	1: 65,285,635 (GRCm39)	Y913C	possibly damaging	Het
Pkd1	T	G	17: 24,795,107 (GRCm39)	S2265A	probably damaging	Het
Pkhd1l1	C	A	15: 44,419,428 (GRCm39)	N2964K	probably damaging	Het
Plch1	T	G	3: 63,688,967 (GRCm39)	D79A	probably damaging	Het
Pnliprp1	A	C	19: 58,728,901 (GRCm39)	T363P	possibly damaging	Het
Ppp1r10	T	A	17: 36,240,352 (GRCm39)	D547E	probably benign	Het
Prkdc	T	A	16: 15,628,701 (GRCm39)	I3482K	probably benign	Het
Ptpn4	A	G	1: 119,649,598 (GRCm39)	Y333H	probably damaging	Het
Ptpru	T	A	4: 131,548,279 (GRCm39)	M73L	probably benign	Het
Rrp12	A	G	19: 41,865,867 (GRCm39)	Y698H	probably damaging	Het
Scaf8	T	C	17: 3,227,398 (GRCm39)	F338L	unknown	Het
Slc17a1	G	T	13: 24,064,576 (GRCm39)	V347L	probably benign	Het
Slc1a2	T	A	2: 102,578,883 (GRCm39)	V263E	probably damaging	Het
Slc29a4	T	C	5: 142,704,327 (GRCm39)	V327A	probably benign	Het
Sos2	T	C	12: 69,654,145 (GRCm39)	I703V	probably benign	Het
Srpk1	T	C	17: 28,840,982 (GRCm39)	T15A	probably benign	Het
St6gal2	A	T	17: 55,817,367 (GRCm39)	Q510L	probably benign	Het
Stk24	T	C	14: 121,532,130 (GRCm39)	D289G	possibly damaging	Het
Taf2	T	G	15: 54,929,364 (GRCm39)	K64T	probably benign	Het
Tbx3	A	G	5: 119,813,735 (GRCm39)	E257G	possibly damaging	Het
Tmem102	A	T	11: 69,695,022 (GRCm39)	F317I	probably damaging	Het
Trav10	A	G	14: 53,743,497 (GRCm39)	S33G	possibly damaging	Het
Ttn	T	A	2: 76,745,408 (GRCm39)	I5214F	probably damaging	Het
Ube2f	T	A	1: 91,182,002 (GRCm39)	L2Q	probably damaging	Het
Ube4b	A	G	4: 149,429,069 (GRCm39)	F857L	probably damaging	Het
Vmn2r18	T	A	5: 151,485,602 (GRCm39)	I631F	possibly damaging	Het
Zfp280d	T	A	9: 72,219,947 (GRCm39)	S241T	possibly damaging	Het
Zfp638	T	A	6: 83,956,544 (GRCm39)	L1717*	probably null	Het
Zfp719	A	G	7: 43,240,535 (GRCm39)	N708D	possibly damaging	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
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
R8979:Slc6a3	UTSW	13	73,715,720 (GRCm39)	missense	probably benign	0.20
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'- AAGGCACCTAGCTTCTCTGTC -3'
(R):5'- TATCTGCTCACACACCATGGC -3'

Sequencing Primer
(F):5'- TCTGTCCATCTTAACAGAGTTCAG -3'
(R):5'- ACACACCATGGCCATATGTTTATC -3'

Posted On

2015-10-21