Mutagenetix > Incidental Mutation

Incidental Mutation 'R1498:Slc6a7'

169088

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

039549-MU

Accession Numbers

Essential gene?

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

Stock #

R1498 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

61128452-61147294 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61129764 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 614 (I614T)

Ref Sequence

ENSEMBL: ENSMUSP00000025520 (fasta)

Gene Model

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

AlphaFold

Q6PGE7

Predicted Effect

probably benign
Transcript: ENSMUST00000025520
AA Change: I614T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000025520
Gene: ENSMUSG00000052026
AA Change: I614T

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

0.0783

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

97% (83/86)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,374,627 (GRCm39)	S799P	probably benign	Het
Acvr1b	T	C	15: 101,091,891 (GRCm39)	F57S	probably benign	Het
Adamts5	T	A	16: 85,696,990 (GRCm39)	T56S	possibly damaging	Het
Adrb2	T	C	18: 62,312,004 (GRCm39)	T274A	probably damaging	Het
Agr3	A	T	12: 35,984,379 (GRCm39)		probably null	Het
Ankrd6	A	G	4: 32,810,289 (GRCm39)	M405T	probably benign	Het
Aoc1l2	A	G	6: 48,908,305 (GRCm39)	H435R	probably benign	Het
Aqp5	T	C	15: 99,491,128 (GRCm39)	I60T	probably damaging	Het
Arf5	G	T	6: 28,426,153 (GRCm39)	R180L	probably benign	Het
Asap3	A	G	4: 135,966,505 (GRCm39)	N528D	probably benign	Het
Atmin	G	A	8: 117,681,540 (GRCm39)	E180K	probably benign	Het
Bcl11a	A	T	11: 24,114,005 (GRCm39)	E449D	probably damaging	Het
Cep128	A	T	12: 91,333,191 (GRCm39)	F25I	probably benign	Het
Cfp	GCAC	GC	X: 20,795,905 (GRCm39)		probably null	Het
Chpt1	T	A	10: 88,312,966 (GRCm39)	Y282F	possibly damaging	Het
Cul7	A	G	17: 46,966,636 (GRCm39)	D355G	probably benign	Het
Daxx	T	C	17: 34,131,227 (GRCm39)	Y385H	probably damaging	Het
Dnah2	A	C	11: 69,411,493 (GRCm39)		probably null	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Erc2	T	A	14: 28,024,855 (GRCm39)	M578K	probably benign	Het
Evc	T	A	5: 37,481,044 (GRCm39)	H267L	possibly damaging	Het
Exosc10	A	C	4: 148,666,243 (GRCm39)	Q837P	possibly damaging	Het
Fasn	G	A	11: 120,706,245 (GRCm39)	T1033I	probably damaging	Het
Fat1	C	A	8: 45,478,521 (GRCm39)	Y2522*	probably null	Het
Fbxw8	G	A	5: 118,203,850 (GRCm39)		probably benign	Het
Fyn	A	G	10: 39,408,120 (GRCm39)	D321G	possibly damaging	Het
Grm6	G	A	11: 50,748,083 (GRCm39)	V398M	probably damaging	Het
Gtpbp1	T	A	15: 79,603,222 (GRCm39)		probably null	Het
Hnf1a	A	G	5: 115,108,596 (GRCm39)	V103A	probably damaging	Het
Hsp90aa1	A	T	12: 110,662,122 (GRCm39)		probably null	Het
Iqgap2	C	T	13: 95,783,313 (GRCm39)	V1288I	probably benign	Het
Irx5	A	G	8: 93,086,514 (GRCm39)	D199G	probably damaging	Het
Klrh1	A	G	6: 129,748,703 (GRCm39)	S105P	probably damaging	Het
Krt9	G	T	11: 100,079,195 (GRCm39)	C732*	probably null	Het
Lifr	T	C	15: 7,220,099 (GRCm39)	S910P	probably damaging	Het
Lrig1	G	A	6: 94,604,968 (GRCm39)	A209V	possibly damaging	Het
Lrrk1	T	A	7: 65,952,419 (GRCm39)	R506*	probably null	Het
Lyst	T	A	13: 13,824,960 (GRCm39)	I1525K	possibly damaging	Het
Mad2l1	C	T	6: 66,516,826 (GRCm39)	Q173*	probably null	Het
Mcoln1	T	A	8: 3,562,861 (GRCm39)	I524N	probably damaging	Het
Mmp3	A	T	9: 7,446,967 (GRCm39)	D49V	possibly damaging	Het
Morc3	A	T	16: 93,650,743 (GRCm39)	N321I	probably damaging	Het
Mrpl48	T	C	7: 100,195,695 (GRCm39)		probably benign	Het
Myo6	T	A	9: 80,214,961 (GRCm39)	D1231E	probably damaging	Het
Nlrc4	A	G	17: 74,753,408 (GRCm39)	I325T	probably benign	Het
Or1j19	A	T	2: 36,677,358 (GRCm39)	I274F	probably damaging	Het
Or2ag17	T	C	7: 106,389,623 (GRCm39)	Y195C	possibly damaging	Het
Or4f61	A	T	2: 111,922,938 (GRCm39)	M36K	probably benign	Het
Or8c16	C	G	9: 38,130,676 (GRCm39)	P183A	probably damaging	Het
Or8k32	A	G	2: 86,368,902 (GRCm39)	V117A	probably benign	Het
Parvg	T	A	15: 84,218,832 (GRCm39)	S230T	possibly damaging	Het
Pcca	T	C	14: 122,854,230 (GRCm39)	I118T	probably damaging	Het
Pde6a	A	G	18: 61,365,932 (GRCm39)	N219S	possibly damaging	Het
Phldb1	G	T	9: 44,612,915 (GRCm39)	P935Q	possibly damaging	Het
Plppr5	T	C	3: 117,456,261 (GRCm39)	S261P	probably damaging	Het
Ppl	T	C	16: 4,922,629 (GRCm39)	N260S	probably benign	Het
Ppp1r3e	A	T	14: 55,113,882 (GRCm39)	H263Q	probably benign	Het
Ppp3cb	T	C	14: 20,559,567 (GRCm39)		probably null	Het
Ppt2	A	T	17: 34,842,075 (GRCm39)	D185E	probably benign	Het
Prr27	A	T	5: 87,998,600 (GRCm39)		probably benign	Het
Ptcd3	A	T	6: 71,870,479 (GRCm39)	V327E	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rtp1	A	T	16: 23,249,970 (GRCm39)	M112L	probably benign	Het
Slc22a5	A	T	11: 53,760,140 (GRCm39)	L392Q	probably damaging	Het
Slu7	C	A	11: 43,329,044 (GRCm39)	P89T	possibly damaging	Het
Smarcc2	T	C	10: 128,318,061 (GRCm39)	V618A	probably benign	Het
Sorl1	C	T	9: 41,952,369 (GRCm39)	R729Q	probably damaging	Het
Sptbn2	T	C	19: 4,794,274 (GRCm39)	F1493L	possibly damaging	Het
Sulf1	C	T	1: 12,918,574 (GRCm39)	T66I	probably damaging	Het
Tgtp2	A	G	11: 48,950,165 (GRCm39)	Y136H	probably damaging	Het
Tmem117	T	C	15: 94,536,242 (GRCm39)	F92S	probably damaging	Het
Tmprss9	T	A	10: 80,730,934 (GRCm39)	V820E	probably benign	Het
Tpcn2	A	G	7: 144,822,648 (GRCm39)	Y266H	probably damaging	Het
Trat1	A	G	16: 48,555,304 (GRCm39)	S143P	probably benign	Het
Vmn1r49	T	A	6: 90,049,298 (GRCm39)	R235W	probably damaging	Het
Vmn1r71	A	T	7: 10,482,575 (GRCm39)	C38S	probably benign	Het
Vmn2r6	T	A	3: 64,463,890 (GRCm39)	T315S	probably damaging	Het
Wdr36	A	G	18: 32,986,021 (GRCm39)	D575G	possibly damaging	Het
Zfp292	G	T	4: 34,805,397 (GRCm39)	A2549E	possibly damaging	Het
Zfp354a	A	T	11: 50,961,073 (GRCm39)	H426L	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp648	T	A	1: 154,081,119 (GRCm39)	I426N	probably damaging	Het
Zfp87	T	C	13: 74,520,736 (GRCm39)	N114S	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
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
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'- ACTAAGAGGGACTTATGCTGGGGAC -3'
(R):5'- TCCCAAAGTGGCAGAGCAGATTC -3'

Sequencing Primer
(F):5'- GGGACTGTCGTTGCCAC -3'
(R):5'- GCCATGATAAATGCTCAGTGTCC -3'

Posted On

2014-04-13