Mutagenetix > Incidental Mutation

Incidental Mutation 'R5426:Slc6a7'

426928

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

042992-MU

Accession Numbers

Essential gene?

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

Stock #

R5426 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

61128452-61147294 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 61136308 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025520 (fasta)

Gene Model

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

AlphaFold

Q6PGE7

Predicted Effect

probably null
Transcript: ENSMUST00000025520

SMART Domains

Protein: ENSMUSP00000025520
Gene: ENSMUSG00000052026

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

97% (85/88)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,633 (GRCm39)	H122L	probably damaging	Het
9330182O14Rik	G	A	15: 40,011,932 (GRCm39)	M90I	unknown	Het
9330182O14Rik	G	A	15: 40,011,933 (GRCm39)	D91N	unknown	Het
Abca13	T	A	11: 9,240,722 (GRCm39)	S862T	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adgb	C	A	10: 10,226,004 (GRCm39)	A1405S	probably benign	Het
Adpgk	T	A	9: 59,204,832 (GRCm39)	V86E	probably damaging	Het
Agfg2	G	C	5: 137,666,020 (GRCm39)	P80A	probably damaging	Het
Akap11	G	A	14: 78,736,304 (GRCm39)	Q1829*	probably null	Het
Aldh1l1	G	A	6: 90,536,281 (GRCm39)	R62Q	probably benign	Het
Amd1	G	T	10: 40,166,183 (GRCm39)	D265E	probably damaging	Het
Aox4	A	T	1: 58,259,253 (GRCm39)	Q106L	probably damaging	Het
Arap2	A	T	5: 62,800,159 (GRCm39)	N1289K	probably benign	Het
Arhgef12	T	C	9: 42,897,880 (GRCm39)	S874G	probably damaging	Het
Ccdc166	T	C	15: 75,853,945 (GRCm39)	Q45R	possibly damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdk14	A	G	5: 4,938,975 (GRCm39)	S388P	possibly damaging	Het
Chgb	A	T	2: 132,635,453 (GRCm39)	Q465L	possibly damaging	Het
Commd9	T	A	2: 101,729,220 (GRCm39)	W109R	probably damaging	Het
Cspg4b	G	A	13: 113,505,587 (GRCm39)	V2239I	probably benign	Het
Cyp2b9	T	C	7: 25,887,080 (GRCm39)	V163A	probably benign	Het
Dcpp2	T	A	17: 24,118,287 (GRCm39)	H27Q	possibly damaging	Het
Ddn	T	A	15: 98,704,347 (GRCm39)	E315V	possibly damaging	Het
Defb29	C	A	2: 152,380,868 (GRCm39)	C47F	probably damaging	Het
Dnah7b	T	C	1: 46,281,366 (GRCm39)	M2809T	possibly damaging	Het
Dock4	A	T	12: 40,795,744 (GRCm39)	I854F	probably damaging	Het
Dsg4	T	C	18: 20,591,541 (GRCm39)	Y427H	probably damaging	Het
E130114P18Rik	C	T	4: 97,578,907 (GRCm39)	A23T	unknown	Het
Flacc1	T	A	1: 58,706,045 (GRCm39)	K275*	probably null	Het
Gemin5	A	G	11: 58,016,113 (GRCm39)	S1297P	probably benign	Het
Gm10309	A	C	17: 86,806,161 (GRCm39)		probably benign	Het
Gpatch11	T	A	17: 79,148,663 (GRCm39)	S155R	possibly damaging	Het
Grin2b	C	A	6: 135,709,366 (GRCm39)	Q1393H	probably damaging	Het
Heatr5b	C	T	17: 79,081,142 (GRCm39)	C1370Y	probably damaging	Het
Hmcn2	C	T	2: 31,226,556 (GRCm39)	T177I	possibly damaging	Het
Ildr1	A	T	16: 36,529,981 (GRCm39)	I123F	probably damaging	Het
Kalrn	A	T	16: 34,083,023 (GRCm39)	V644D	probably damaging	Het
Kifap3	A	G	1: 163,607,440 (GRCm39)	M1V	probably null	Het
Klhl11	A	G	11: 100,354,942 (GRCm39)	L293P	probably damaging	Het
Klrc3	G	A	6: 129,618,513 (GRCm39)	S98L	probably benign	Het
Lrrc37	A	T	11: 103,511,586 (GRCm39)	H127Q	unknown	Het
Med12l	G	A	3: 59,156,143 (GRCm39)	M1220I	probably damaging	Het
Ms4a7	C	T	19: 11,303,166 (GRCm39)		probably null	Het
Mybpc2	A	G	7: 44,159,253 (GRCm39)	V599A	probably benign	Het
Naalad2	T	C	9: 18,258,815 (GRCm39)	N487D	probably benign	Het
Nat8f7	T	G	6: 85,684,805 (GRCm39)	S12R	probably benign	Het
Nefm	T	A	14: 68,357,515 (GRCm39)		probably benign	Het
Nlrp5	T	C	7: 23,117,626 (GRCm39)	V450A	probably damaging	Het
Nps	G	A	7: 134,870,376 (GRCm39)		probably null	Het
Or13c7d	A	G	4: 43,770,168 (GRCm39)	I281T	probably benign	Het
Or2ag16	C	A	7: 106,351,773 (GRCm39)	S274I	probably benign	Het
Or4a74	T	C	2: 89,440,083 (GRCm39)	Y121C	probably damaging	Het
Or4b13	T	A	2: 90,082,955 (GRCm39)	K126*	probably null	Het
Or5e1	T	C	7: 108,354,924 (GRCm39)	L287P	possibly damaging	Het
Or5h24	G	T	16: 58,918,665 (GRCm39)	P230Q	possibly damaging	Het
Or5p67	T	C	7: 107,922,017 (GRCm39)	N289D	probably damaging	Het
Oxct2a	C	A	4: 123,216,506 (GRCm39)	G292W	possibly damaging	Het
Pramel32	T	A	4: 88,547,647 (GRCm39)		probably benign	Het
Prr27	T	C	5: 87,998,744 (GRCm39)		probably benign	Het
Ptx3	T	C	3: 66,128,143 (GRCm39)	M68T	probably damaging	Het
Rufy1	A	G	11: 50,312,561 (GRCm39)	L131S	probably damaging	Het
Septin7	T	A	9: 25,197,986 (GRCm39)	I100N	possibly damaging	Het
Sgms2	T	C	3: 131,135,446 (GRCm39)	I143V	probably benign	Het
Slc25a34	A	G	4: 141,350,877 (GRCm39)	V44A	probably damaging	Het
Slc28a3	T	A	13: 58,710,968 (GRCm39)	D518V	probably damaging	Het
Slco4a1	C	A	2: 180,113,028 (GRCm39)	A420D	possibly damaging	Het
Smap1	T	C	1: 23,888,471 (GRCm39)	T180A	probably benign	Het
Specc1l	T	C	10: 75,103,384 (GRCm39)	S920P	probably benign	Het
Tgtp2	A	G	11: 48,950,083 (GRCm39)	M163T	probably benign	Het
Tiam1	G	T	16: 89,662,280 (GRCm39)	Q613K	possibly damaging	Het
Vsig10l	T	A	7: 43,114,247 (GRCm39)	S190T	probably damaging	Het
Vwa3b	A	G	1: 37,154,752 (GRCm39)	Y512C	probably damaging	Het
Wdfy3	T	A	5: 102,067,312 (GRCm39)	N1207Y	probably damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Wdr70	A	G	15: 7,951,586 (GRCm39)	L417S	possibly damaging	Het
Wdr81	A	C	11: 75,341,722 (GRCm39)	S1182A	possibly damaging	Het
Zfp458	A	T	13: 67,405,256 (GRCm39)	C391*	probably null	Het
Zfp638	A	G	6: 83,953,396 (GRCm39)	E1167G	probably damaging	Het
Zfp763	T	A	17: 33,238,569 (GRCm39)	D192V	probably benign	Het
Zfp853	T	G	5: 143,274,624 (GRCm39)	Q332P	unknown	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
R3970:Slc6a7	UTSW	18	61,136,417 (GRCm39)	missense	possibly damaging	0.94
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
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'- ATGCATTTACACGGATGTCCC -3'
(R):5'- AGGTCAGTGCCTGCTACTTC -3'

Sequencing Primer
(F):5'- TTTACACGGATGTCCCACAAAAGTG -3'
(R):5'- AGTGCCTGCTACTTCCGGTG -3'

Posted On

2016-09-01