Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R3970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60995381-61014199 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 61003345 bp

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]

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: 147,945,322	M583T	probably damaging	Het
Actn4	T	C	7: 28,962,032	K51R	probably benign	Het
Adamts15	T	C	9: 30,910,602	Y513C	probably benign	Het
Akap13	T	A	7: 75,569,951	L34*	probably null	Het
Akap6	A	T	12: 53,141,453	K1883N	probably damaging	Het
Ano1	T	C	7: 144,607,963	N749D	probably benign	Het
Armcx6	G	T	X: 134,749,756	H109N	possibly damaging	Het
Camk4	T	A	18: 33,179,581	I258N	possibly damaging	Het
Cdhr2	A	T	13: 54,726,458	N781I	probably damaging	Het
Cherp	T	C	8: 72,469,951	H196R	possibly damaging	Het
Chia1	T	G	3: 106,121,635		probably null	Het
Col11a1	A	T	3: 114,097,189	T392S	unknown	Het
Commd9	C	A	2: 101,897,141	N93K	probably benign	Het
Csf2rb	T	C	15: 78,341,467	V286A	probably benign	Het
Dnah17	G	A	11: 118,041,158		probably benign	Het
E2f1	C	G	2: 154,564,022	G144R	probably damaging	Het
Fam196b	A	T	11: 34,419,739	Q481L	probably damaging	Het
Fcho2	A	T	13: 98,735,056	S551T	probably benign	Het
Flna	A	T	X: 74,235,667	V1253E	probably damaging	Het
Gm12185	A	T	11: 48,907,345	C774S	probably benign	Het
Gm14401	T	C	2: 177,086,996	Y292H	possibly damaging	Het
Kif5c	A	G	2: 49,688,744	E128G	probably damaging	Het
Lama3	A	T	18: 12,580,341	K3230M	probably damaging	Het
Myof	C	T	19: 37,901,263	V1287M	probably damaging	Het
Myof	T	G	19: 38,022,610	D60A	possibly damaging	Het
Myrf	A	G	19: 10,223,237	L332P	probably damaging	Het
Nampt	T	A	12: 32,833,096	D93E	probably benign	Het
Narf	A	T	11: 121,238,421	E10D	possibly damaging	Het
Nlrp6	C	A	7: 140,921,655	A45E	probably damaging	Het
Obscn	G	A	11: 59,051,662	P4898L	probably damaging	Het
Olfr251	T	C	9: 38,377,926	V15A	probably damaging	Het
Pabpc5	A	G	X: 119,928,624	E212G	probably benign	Het
Pcdh8	C	T	14: 79,770,266	G286S	possibly damaging	Het
Pcdha2	C	A	18: 36,940,697	Y460*	probably null	Het
Pcdhga4	G	T	18: 37,687,601	L734F	possibly damaging	Het
Pecr	G	A	1: 72,276,309	T94I	probably damaging	Het
Piezo2	A	T	18: 63,011,696	V2776E	probably damaging	Het
Pign	A	C	1: 105,656,003	S125A	probably damaging	Het
Pik3r2	G	A	8: 70,770,421	R452C	probably benign	Het
Pkd1l1	C	T	11: 8,874,218	E1566K	probably damaging	Het
Plcb2	A	G	2: 118,715,690		probably benign	Het
Ppl	T	C	16: 5,100,332		probably null	Het
Pramel4	A	T	4: 144,068,474	N477I	possibly damaging	Het
Psd	C	T	19: 46,324,406	R175H	probably benign	Het
Sema3g	T	C	14: 31,226,521		probably null	Het
Sf3b1	G	A	1: 55,012,182	R196*	probably null	Het
Slc26a4	G	T	12: 31,528,687	H656N	probably damaging	Het
Stab2	T	C	10: 86,878,886	T139A	probably damaging	Het
Tiam2	T	A	17: 3,428,831	I613N	probably damaging	Het
Tlk1	A	G	2: 70,716,652	V695A	probably damaging	Het
Trpc2	A	G	7: 102,084,324	D160G	probably damaging	Het
Uhrf2	T	C	19: 30,079,915	V491A	probably damaging	Het
Vwa7	G	A	17: 35,017,708	A84T	probably damaging	Het
Zfp219	T	A	14: 52,006,964	Q541L	probably benign	Het

Other mutations in Slc6a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Slc6a7	APN	18	61001609	missense	possibly damaging	0.88
IGL00433:Slc6a7	APN	18	61001291	critical splice donor site	probably null
IGL01391:Slc6a7	APN	18	61003310	missense	probably damaging	1.00
IGL01476:Slc6a7	APN	18	61005773	missense	probably damaging	1.00
IGL02705:Slc6a7	APN	18	61009428	missense	probably damaging	1.00
R0106:Slc6a7	UTSW	18	61002223	missense	probably benign	0.04
R0106:Slc6a7	UTSW	18	61002223	missense	probably benign	0.04
R0147:Slc6a7	UTSW	18	61002111	splice site	probably benign
R0267:Slc6a7	UTSW	18	60996711	missense	probably benign	0.00
R1349:Slc6a7	UTSW	18	61000543	missense	probably benign	0.03
R1498:Slc6a7	UTSW	18	60996692	missense	probably benign	0.02
R1874:Slc6a7	UTSW	18	61001398	splice site	probably benign
R2005:Slc6a7	UTSW	18	61001641	missense	possibly damaging	0.68
R3051:Slc6a7	UTSW	18	61009517	missense	probably damaging	0.96
R4573:Slc6a7	UTSW	18	61002181	missense	probably benign	0.20
R4835:Slc6a7	UTSW	18	61002205	missense	probably benign	0.04
R4942:Slc6a7	UTSW	18	61004517	missense	probably damaging	1.00
R5112:Slc6a7	UTSW	18	61007376	missense	probably null	0.04
R5426:Slc6a7	UTSW	18	61003236	splice site	probably null
R6168:Slc6a7	UTSW	18	61001662	missense	probably benign	0.18
R6312:Slc6a7	UTSW	18	61002385	missense	probably benign	0.12
R6489:Slc6a7	UTSW	18	61007543	missense	probably damaging	1.00
R7131:Slc6a7	UTSW	18	61002202	missense	probably damaging	1.00
R7460:Slc6a7	UTSW	18	61001602	missense	probably benign	0.02
R7556:Slc6a7	UTSW	18	61007442	nonsense	probably null
R7740:Slc6a7	UTSW	18	61000423	missense	possibly damaging	0.90
R7793:Slc6a7	UTSW	18	61005779	missense	probably damaging	1.00

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