Mutagenetix > Incidental Mutation

Incidental Mutation 'R3970:Slc6a7'

310946

Institutional Source

Beutler Lab

Gene Symbol

Slc6a7

Ensembl Gene

ENSMUSG00000052026

Gene Name

solute carrier family 6 (neurotransmitter transporter, L-proline), member 7

Synonyms

Prot

MMRRC Submission

040938-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R3970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61128452-61147294 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 61136417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 328 (L328R)

Ref Sequence

ENSEMBL: ENSMUSP00000025520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025520]

AlphaFold

Q6PGE7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025520
AA Change: L328R

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025520
Gene: ENSMUSG00000052026
AA Change: L328R

Domain	Start	End	E-Value	Type
Pfam:SNF	37	561	1.2e-231	PFAM
low complexity region	623	634	N/A	INTRINSIC

Meta Mutation Damage Score

0.7118

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

96% (53/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 148,029,779 (GRCm39)	M583T	probably damaging	Het
Actn4	T	C	7: 28,661,457 (GRCm39)	K51R	probably benign	Het
Adamts15	T	C	9: 30,821,898 (GRCm39)	Y513C	probably benign	Het
Akap13	T	A	7: 75,219,699 (GRCm39)	L34*	probably null	Het
Akap6	A	T	12: 53,188,236 (GRCm39)	K1883N	probably damaging	Het
Ano1	T	C	7: 144,161,700 (GRCm39)	N749D	probably benign	Het
Armcx6	G	T	X: 133,650,505 (GRCm39)	H109N	possibly damaging	Het
Camk4	T	A	18: 33,312,634 (GRCm39)	I258N	possibly damaging	Het
Cdhr2	A	T	13: 54,874,271 (GRCm39)	N781I	probably damaging	Het
Cherp	T	C	8: 73,223,795 (GRCm39)	H196R	possibly damaging	Het
Chia1	T	G	3: 106,028,951 (GRCm39)		probably null	Het
Col11a1	A	T	3: 113,890,838 (GRCm39)	T392S	unknown	Het
Commd9	C	A	2: 101,727,486 (GRCm39)	N93K	probably benign	Het
Csf2rb	T	C	15: 78,225,667 (GRCm39)	V286A	probably benign	Het
Dnah17	G	A	11: 117,931,984 (GRCm39)		probably benign	Het
E2f1	C	G	2: 154,405,942 (GRCm39)	G144R	probably damaging	Het
Fcho2	A	T	13: 98,871,564 (GRCm39)	S551T	probably benign	Het
Flna	A	T	X: 73,279,273 (GRCm39)	V1253E	probably damaging	Het
Gm12185	A	T	11: 48,798,172 (GRCm39)	C774S	probably benign	Het
Gm14401	T	C	2: 176,778,789 (GRCm39)	Y292H	possibly damaging	Het
Insyn2b	A	T	11: 34,369,739 (GRCm39)	Q481L	probably damaging	Het
Kif5c	A	G	2: 49,578,756 (GRCm39)	E128G	probably damaging	Het
Lama3	A	T	18: 12,713,398 (GRCm39)	K3230M	probably damaging	Het
Myof	C	T	19: 37,889,711 (GRCm39)	V1287M	probably damaging	Het
Myof	T	G	19: 38,011,058 (GRCm39)	D60A	possibly damaging	Het
Myrf	A	G	19: 10,200,601 (GRCm39)	L332P	probably damaging	Het
Nampt	T	A	12: 32,883,095 (GRCm39)	D93E	probably benign	Het
Narf	A	T	11: 121,129,247 (GRCm39)	E10D	possibly damaging	Het
Nlrp6	C	A	7: 140,501,568 (GRCm39)	A45E	probably damaging	Het
Obscn	G	A	11: 58,942,488 (GRCm39)	P4898L	probably damaging	Het
Or8c11	T	C	9: 38,289,222 (GRCm39)	V15A	probably damaging	Het
Pabpc5	A	G	X: 118,838,321 (GRCm39)	E212G	probably benign	Het
Pcdh8	C	T	14: 80,007,706 (GRCm39)	G286S	possibly damaging	Het
Pcdha2	C	A	18: 37,073,750 (GRCm39)	Y460*	probably null	Het
Pcdhga4	G	T	18: 37,820,654 (GRCm39)	L734F	possibly damaging	Het
Pecr	G	A	1: 72,315,468 (GRCm39)	T94I	probably damaging	Het
Piezo2	A	T	18: 63,144,767 (GRCm39)	V2776E	probably damaging	Het
Pign	A	C	1: 105,583,728 (GRCm39)	S125A	probably damaging	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Pkd1l1	C	T	11: 8,824,218 (GRCm39)	E1566K	probably damaging	Het
Plcb2	A	G	2: 118,546,171 (GRCm39)		probably benign	Het
Ppl	T	C	16: 4,918,196 (GRCm39)		probably null	Het
Pramel4	A	T	4: 143,795,044 (GRCm39)	N477I	possibly damaging	Het
Psd	C	T	19: 46,312,845 (GRCm39)	R175H	probably benign	Het
Sema3g	T	C	14: 30,948,478 (GRCm39)		probably null	Het
Sf3b1	G	A	1: 55,051,341 (GRCm39)	R196*	probably null	Het
Slc26a4	G	T	12: 31,578,686 (GRCm39)	H656N	probably damaging	Het
Stab2	T	C	10: 86,714,750 (GRCm39)	T139A	probably damaging	Het
Tiam2	T	A	17: 3,479,106 (GRCm39)	I613N	probably damaging	Het
Tlk1	A	G	2: 70,546,996 (GRCm39)	V695A	probably damaging	Het
Trpc2	A	G	7: 101,733,531 (GRCm39)	D160G	probably damaging	Het
Uhrf2	T	C	19: 30,057,315 (GRCm39)	V491A	probably damaging	Het
Vwa7	G	A	17: 35,236,684 (GRCm39)	A84T	probably damaging	Het
Zfp219	T	A	14: 52,244,421 (GRCm39)	Q541L	probably benign	Het

Other mutations in Slc6a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Slc6a7	APN	18	61,134,681 (GRCm39)	missense	possibly damaging	0.88
IGL00433:Slc6a7	APN	18	61,134,363 (GRCm39)	critical splice donor site	probably null
IGL01391:Slc6a7	APN	18	61,136,382 (GRCm39)	missense	probably damaging	1.00
IGL01476:Slc6a7	APN	18	61,138,845 (GRCm39)	missense	probably damaging	1.00
IGL02705:Slc6a7	APN	18	61,142,500 (GRCm39)	missense	probably damaging	1.00
R0106:Slc6a7	UTSW	18	61,135,295 (GRCm39)	missense	probably benign	0.04
R0106:Slc6a7	UTSW	18	61,135,295 (GRCm39)	missense	probably benign	0.04
R0147:Slc6a7	UTSW	18	61,135,183 (GRCm39)	splice site	probably benign
R0267:Slc6a7	UTSW	18	61,129,783 (GRCm39)	missense	probably benign	0.00
R1349:Slc6a7	UTSW	18	61,133,615 (GRCm39)	missense	probably benign	0.03
R1498:Slc6a7	UTSW	18	61,129,764 (GRCm39)	missense	probably benign	0.02
R1874:Slc6a7	UTSW	18	61,134,470 (GRCm39)	splice site	probably benign
R2005:Slc6a7	UTSW	18	61,134,713 (GRCm39)	missense	possibly damaging	0.68
R3051:Slc6a7	UTSW	18	61,142,589 (GRCm39)	missense	probably damaging	0.96
R4573:Slc6a7	UTSW	18	61,135,253 (GRCm39)	missense	probably benign	0.20
R4835:Slc6a7	UTSW	18	61,135,277 (GRCm39)	missense	probably benign	0.04
R4942:Slc6a7	UTSW	18	61,137,589 (GRCm39)	missense	probably damaging	1.00
R5112:Slc6a7	UTSW	18	61,140,448 (GRCm39)	missense	probably null	0.04
R5426:Slc6a7	UTSW	18	61,136,308 (GRCm39)	splice site	probably null
R6168:Slc6a7	UTSW	18	61,134,734 (GRCm39)	missense	probably benign	0.18
R6312:Slc6a7	UTSW	18	61,135,457 (GRCm39)	missense	probably benign	0.12
R6489:Slc6a7	UTSW	18	61,140,615 (GRCm39)	missense	probably damaging	1.00
R7131:Slc6a7	UTSW	18	61,135,274 (GRCm39)	missense	probably damaging	1.00
R7460:Slc6a7	UTSW	18	61,134,674 (GRCm39)	missense	probably benign	0.02
R7556:Slc6a7	UTSW	18	61,140,514 (GRCm39)	nonsense	probably null
R7740:Slc6a7	UTSW	18	61,133,495 (GRCm39)	missense	possibly damaging	0.90
R7793:Slc6a7	UTSW	18	61,138,851 (GRCm39)	missense	probably damaging	1.00
R8183:Slc6a7	UTSW	18	61,140,448 (GRCm39)	missense	probably null	0.04
R9040:Slc6a7	UTSW	18	61,134,360 (GRCm39)	splice site	probably benign
R9192:Slc6a7	UTSW	18	61,133,649 (GRCm39)	missense	probably damaging	1.00
R9445:Slc6a7	UTSW	18	61,138,815 (GRCm39)	missense	probably damaging	1.00
R9792:Slc6a7	UTSW	18	61,138,866 (GRCm39)	missense	probably benign	0.33
R9793:Slc6a7	UTSW	18	61,138,866 (GRCm39)	missense	probably benign	0.33
R9795:Slc6a7	UTSW	18	61,138,866 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TGTGTTGCTAGCACACCCTG -3'
(R):5'- CAGGTGTGGATTGAAGCTGC -3'

Sequencing Primer
(F):5'- ACACCCTGTGACTCAGCTATC -3'
(R):5'- GGGGGTCTCCTCACCTTTG -3'

Posted On

2015-04-29