Mutagenetix > Incidental Mutation

Incidental Mutation 'R0267:Slc6a7'

35027

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

038493-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R0267 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

60995381-61014199 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60996711 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 608 (M608L)

Ref Sequence

ENSEMBL: ENSMUSP00000025520 (fasta)

Gene Model

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

AlphaFold

Q6PGE7

Predicted Effect

probably benign
Transcript: ENSMUST00000025520
AA Change: M608L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000025520
Gene: ENSMUSG00000052026
AA Change: M608L

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

0.0728

Coding Region Coverage

1x: 98.6%
3x: 97.7%
10x: 96.2%
20x: 94.0%

Validation Efficiency

97% (64/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	G	4: 53,046,105	F1721S	probably damaging	Het
Adgrb1	G	A	15: 74,529,389	R78H	probably damaging	Het
Adgrd1	G	A	5: 129,139,594	A342T	probably benign	Het
Adrb1	A	T	19: 56,723,491	K374*	probably null	Het
Aldh18a1	C	A	19: 40,573,789	V264F	probably benign	Het
Aldh1l2	C	T	10: 83,522,687		probably benign	Het
Alox15	T	A	11: 70,346,153	H393L	probably damaging	Het
Aox2	A	G	1: 58,339,446		probably benign	Het
Appbp2	T	C	11: 85,201,462	Y297C	probably damaging	Het
Atxn2l	T	G	7: 126,493,207	Q950P	probably damaging	Het
Bicd1	A	T	6: 149,517,042	D737V	probably damaging	Het
C9	T	C	15: 6,467,458	I212T	probably benign	Het
Ccdc63	A	T	5: 122,117,044		probably benign	Het
Chst1	C	A	2: 92,613,606	P141Q	probably damaging	Het
Cped1	T	A	6: 22,119,476	F311L	probably damaging	Het
D6Wsu163e	T	A	6: 126,946,491	H113Q	probably benign	Het
Dcn	A	T	10: 97,506,483		probably benign	Het
Dmbx1	C	T	4: 115,918,112	A324T	probably benign	Het
Dock10	G	T	1: 80,512,454	Q1618K	probably damaging	Het
Dpyd	A	G	3: 118,917,272	E443G	probably benign	Het
Espl1	T	C	15: 102,313,017	V953A	possibly damaging	Het
Exosc10	T	C	4: 148,562,756	L174P	probably damaging	Het
Foxg1	A	G	12: 49,385,582	Y366C	probably damaging	Het
Fxyd3	T	C	7: 31,070,734		probably benign	Het
Gbp2	T	C	3: 142,630,106	V189A	probably benign	Het
Gins4	T	C	8: 23,229,410		probably benign	Het
Gm12789	A	G	4: 101,988,122	T3A	probably benign	Het
Gnb1l	T	C	16: 18,548,089		probably benign	Het
Gtpbp3	T	C	8: 71,491,497	L295S	probably damaging	Het
Hrh4	C	A	18: 13,022,398	Y331*	probably null	Het
Hsd11b1	A	T	1: 193,241,397	Y52N	probably damaging	Het
Jam3	A	G	9: 27,106,405	I29T	probably benign	Het
Kctd16	T	A	18: 40,530,877	I353N	probably benign	Het
Lama4	G	T	10: 39,028,639	G246C	probably damaging	Het
Lhx3	T	A	2: 26,203,028	M137L	probably benign	Het
Morc2a	T	C	11: 3,678,567	I340T	probably benign	Het
Myo7a	A	C	7: 98,054,624	I1969S	probably benign	Het
Olfr1471	T	A	19: 13,445,428	C139S	probably damaging	Het
Olfr304	T	C	7: 86,386,267	E131G	possibly damaging	Het
Olfr429	A	G	1: 174,089,166	N42S	probably damaging	Het
Pclo	T	C	5: 14,681,180	L3232P	unknown	Het
Polr1a	T	G	6: 71,974,139	I1407M	probably damaging	Het
Ppip5k2	A	G	1: 97,728,997	V817A	probably damaging	Het
Rbfox3	T	C	11: 118,495,240	T280A	probably benign	Het
Rfx3	T	C	19: 27,793,788	D521G	probably benign	Het
Scn5a	C	T	9: 119,543,135	V223I	probably damaging	Het
Sgsm3	T	G	15: 81,006,602	M119R	probably damaging	Het
Slit2	A	G	5: 48,182,331		probably benign	Het
Steap2	T	A	5: 5,673,561	I440F	probably benign	Het
Syn2	T	G	6: 115,254,150		probably benign	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Tfb2m	G	A	1: 179,533,638	H262Y	probably benign	Het
Trmt1l	A	G	1: 151,457,675		probably benign	Het
Trpm6	C	A	19: 18,823,378	P819T	probably benign	Het
Ttn	G	A	2: 76,743,689	A25620V	probably damaging	Het
Ubn2	T	C	6: 38,482,618		probably null	Het
Vars	T	C	17: 35,011,596		probably benign	Het
Vip	A	T	10: 5,644,004	D119V	possibly damaging	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps33b	T	C	7: 80,286,054	I405T	possibly damaging	Het
Zbtb21	T	A	16: 97,952,100	S356C	probably damaging	Het
Zdhhc6	A	T	19: 55,308,930	S237T	probably benign	Het
Zfp142	G	A	1: 74,576,064	A427V	probably benign	Het
Zfp692	T	A	11: 58,314,314	V463E	possibly damaging	Het
Zmynd8	A	T	2: 165,828,402	I384N	probably damaging	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
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
R3970:Slc6a7	UTSW	18	61003345	missense	possibly damaging	0.94
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
R8183:Slc6a7	UTSW	18	61007376	missense	probably null	0.04
R9040:Slc6a7	UTSW	18	61001288	splice site	probably benign
R9192:Slc6a7	UTSW	18	61000577	missense	probably damaging	1.00
R9445:Slc6a7	UTSW	18	61005743	missense	probably damaging	1.00
R9792:Slc6a7	UTSW	18	61005794	missense	probably benign	0.33
R9793:Slc6a7	UTSW	18	61005794	missense	probably benign	0.33
R9795:Slc6a7	UTSW	18	61005794	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- ACTAAGAGGGACTTATGCTGGGGAC -3'
(R):5'- TCCCAAAGTGGCAGAGCAGATTC -3'

Sequencing Primer
(F):5'- ACGGCAACCTCCCATTG -3'
(R):5'- GCAGATTCTCACTGGGCATAG -3'

Posted On

2013-05-09