Mutagenetix > Incidental Mutation

Incidental Mutation 'R4942:Slc6a7'

383233

Institutional Source

Beutler Lab

Gene Symbol

Slc6a7

Ensembl Gene

ENSMUSG00000052026

Gene Name

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

Synonyms

Prot

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R4942 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61128452-61147294 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61137589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 244 (Y244H)

Ref Sequence

ENSEMBL: ENSMUSP00000025520 (fasta)

Gene Model

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

AlphaFold

Q6PGE7

Predicted Effect

probably damaging
Transcript: ENSMUST00000025520
AA Change: Y244H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025520
Gene: ENSMUSG00000052026
AA Change: Y244H

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.6%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,720,472 (GRCm39)		probably null	Het
Adamts7	T	C	9: 90,045,364 (GRCm39)	S23P	probably benign	Het
Adamtsl1	T	A	4: 86,259,451 (GRCm39)	C824*	probably null	Het
Adgre1	A	G	17: 57,713,903 (GRCm39)	Y196C	probably damaging	Het
Arap1	A	G	7: 101,051,009 (GRCm39)	D542G	possibly damaging	Het
B3gat1	A	G	9: 26,666,894 (GRCm39)	D42G	probably benign	Het
Birc6	G	A	17: 74,930,045 (GRCm39)	A2412T	probably damaging	Het
Bnip5	T	C	17: 29,122,232 (GRCm39)	R420G	probably benign	Het
Bsn	A	G	9: 107,983,678 (GRCm39)	Y3459H	unknown	Het
Cacnb1	T	C	11: 97,893,809 (GRCm39)	Y571C	probably damaging	Het
Cdk2ap2	G	A	19: 4,147,508 (GRCm39)		probably null	Het
Cep57	A	G	9: 13,724,723 (GRCm39)	S265P	probably damaging	Het
Clca3a1	A	G	3: 144,710,524 (GRCm39)	I893T	probably benign	Het
Clca3a2	T	A	3: 144,512,263 (GRCm39)	E491V	probably damaging	Het
Cldn10	G	A	14: 119,025,725 (GRCm39)	G53S	possibly damaging	Het
Cobl	A	T	11: 12,204,185 (GRCm39)	I832N	probably damaging	Het
Col9a2	T	C	4: 120,910,316 (GRCm39)	V487A	possibly damaging	Het
Cse1l	C	T	2: 166,771,714 (GRCm39)	T325I	probably damaging	Het
Dlx6	A	G	6: 6,863,468 (GRCm39)	Q30R	probably benign	Het
Dnah8	T	C	17: 30,948,116 (GRCm39)	V1902A	probably benign	Het
Dusp8	A	G	7: 141,635,965 (GRCm39)	F542L	possibly damaging	Het
Emid1	T	G	11: 5,079,430 (GRCm39)	M323L	probably benign	Het
Ercc5	A	G	1: 44,215,125 (GRCm39)	D886G	probably benign	Het
Fam184b	T	C	5: 45,730,649 (GRCm39)	E461G	probably damaging	Het
Fbn1	C	A	2: 125,225,536 (GRCm39)	C572F	possibly damaging	Het
Gigyf1	G	T	5: 137,523,952 (GRCm39)	V1041L	possibly damaging	Het
Grin3b	A	G	10: 79,811,556 (GRCm39)	H714R	probably damaging	Het
Heatr1	A	G	13: 12,428,391 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Llgl1	C	T	11: 60,600,394 (GRCm39)	P581L	probably benign	Het
Lypd6b	C	A	2: 49,836,132 (GRCm39)	H104Q	probably benign	Het
Man1a	A	T	10: 53,809,586 (GRCm39)		probably null	Het
Megf6	A	T	4: 154,338,277 (GRCm39)	D449V	probably damaging	Het
Mtor	T	C	4: 148,556,599 (GRCm39)	V1003A	probably benign	Het
Ncan	C	A	8: 70,552,944 (GRCm39)	W1096L	probably damaging	Het
Ndor1	C	T	2: 25,138,133 (GRCm39)		probably null	Het
Ndufaf1	T	C	2: 119,490,547 (GRCm39)	E171G	possibly damaging	Het
Nell1	T	C	7: 49,770,397 (GRCm39)	V152A	possibly damaging	Het
Nherf4	C	A	9: 44,159,915 (GRCm39)	G402*	probably null	Het
Nt5dc1	A	T	10: 34,198,673 (GRCm39)	V255E	probably damaging	Het
Or2a20	T	A	6: 43,193,928 (GRCm39)	F27Y	probably damaging	Het
Or2y1b	A	T	11: 49,208,375 (GRCm39)	M1L	probably null	Het
Or52h7	A	G	7: 104,214,212 (GRCm39)	I261M	probably benign	Het
Or52z14	G	A	7: 103,253,401 (GRCm39)	R180H	probably benign	Het
Otud7a	T	C	7: 63,407,171 (GRCm39)	I50T	probably damaging	Het
P2ry13	G	A	3: 59,116,983 (GRCm39)	T265I	probably benign	Het
Pde4d	A	G	13: 108,996,733 (GRCm39)	S12G	probably benign	Het
Pigk	C	A	3: 152,450,154 (GRCm39)	N219K	probably damaging	Het
Plcg1	T	A	2: 160,595,509 (GRCm39)		probably null	Het
Psd2	A	T	18: 36,111,717 (GRCm39)	D114V	probably damaging	Het
Ptch1	A	T	13: 63,672,884 (GRCm39)	I770N	probably benign	Het
Ptprq	A	T	10: 107,524,290 (GRCm39)	M481K	probably benign	Het
Rnf216	A	C	5: 143,078,814 (GRCm39)	M45R	probably damaging	Het
Rpsa	T	A	9: 119,960,129 (GRCm39)	W231R	probably benign	Het
Ryr1	G	T	7: 28,768,998 (GRCm39)	T2797N	probably damaging	Het
Ryr3	A	T	2: 112,666,602 (GRCm39)	M1468K	probably damaging	Het
Slco6c1	T	A	1: 97,009,049 (GRCm39)	D462V	probably damaging	Het
Spata31d1b	A	T	13: 59,864,917 (GRCm39)	E688D	possibly damaging	Het
Srpra	G	A	9: 35,126,766 (GRCm39)	R508H	probably benign	Het
Tnrc18	A	T	5: 142,773,737 (GRCm39)	I181N	unknown	Het
Tnrc6a	T	C	7: 122,791,836 (GRCm39)	F1785L	probably damaging	Het
Trio	A	T	15: 27,752,811 (GRCm39)	D2174E	probably benign	Het
Ttn	C	T	2: 76,623,600 (GRCm39)	V15326I	probably damaging	Het
Ubap2	T	A	4: 41,245,461 (GRCm39)		probably benign	Het
Vmn2r113	C	T	17: 23,177,321 (GRCm39)	P702S	probably damaging	Het
Vmn2r66	A	T	7: 84,656,980 (GRCm39)	W142R	probably damaging	Het
Vmn2r73	A	G	7: 85,519,582 (GRCm39)	Y459H	probably damaging	Het
Wsb2	C	T	5: 117,515,550 (GRCm39)	T385M	probably damaging	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
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'- TTGTCTGCTCCTGTCAAATGG -3'
(R):5'- TGTACCAGGGGAGTCAGTAG -3'

Sequencing Primer
(F):5'- CCTAGGATTTTAAGAATACACACGGG -3'
(R):5'- CCTTGGGAAGCAGGGTAGC -3'

Posted On

2016-04-27