Mutagenetix > Incidental Mutation

Incidental Mutation 'R6489:Slc6a7'

522706

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

044621-MU

Accession Numbers

Essential gene?

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

Stock #

R6489 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61128452-61147294 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61140615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 139 (Y139C)

Ref Sequence

ENSEMBL: ENSMUSP00000025520 (fasta)

Gene Model

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

AlphaFold

Q6PGE7

Predicted Effect

probably damaging
Transcript: ENSMUST00000025520
AA Change: Y139C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025520
Gene: ENSMUSG00000052026
AA Change: Y139C

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

0.5337

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.3%
20x: 90.6%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	C	11: 69,901,145 (GRCm39)	T650A	probably benign	Het
Alkbh7	T	A	17: 57,305,979 (GRCm39)	S127T	probably damaging	Het
Ank3	G	A	10: 69,827,459 (GRCm39)	A565T	probably benign	Het
App	G	T	16: 84,853,408 (GRCm39)	D223E	unknown	Het
Arhgef2	C	A	3: 88,550,321 (GRCm39)	S675R	probably damaging	Het
Atg14	T	C	14: 47,786,480 (GRCm39)	D258G	probably damaging	Het
Calhm5	A	T	10: 33,968,502 (GRCm39)	W184R	probably damaging	Het
Cbr1b	A	T	16: 93,427,286 (GRCm39)		probably null	Het
Ckap2l	T	C	2: 129,111,034 (GRCm39)	D721G	possibly damaging	Het
Cog8	T	C	8: 107,776,933 (GRCm39)	T481A	probably benign	Het
Colec10	C	A	15: 54,325,609 (GRCm39)		probably null	Het
Cplx3	A	T	9: 57,521,009 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,332,389 (GRCm39)		probably benign	Het
Dock1	T	C	7: 134,592,270 (GRCm39)	M935T	probably damaging	Het
Dsg4	T	A	18: 20,604,420 (GRCm39)	N962K	possibly damaging	Het
Dym	T	C	18: 75,213,297 (GRCm39)	V173A	probably benign	Het
Exoc3l4	A	G	12: 111,395,131 (GRCm39)	Y583C	probably damaging	Het
Flnb	G	A	14: 7,867,551 (GRCm38)	V103M	probably damaging	Het
Fzd1	T	A	5: 4,807,336 (GRCm39)	Q82L	probably benign	Het
Gabrr1	A	G	4: 33,162,855 (GRCm39)	I474V	probably benign	Het
Galnt11	G	T	5: 25,469,964 (GRCm39)	W521L	probably damaging	Het
Glb1l3	A	G	9: 26,738,127 (GRCm39)	V420A	probably benign	Het
H1f7	A	T	15: 98,154,888 (GRCm39)	L87*	probably null	Het
Homer2	T	C	7: 81,274,026 (GRCm39)	T57A	probably benign	Het
Ihh	T	A	1: 74,985,670 (GRCm39)	T272S	probably damaging	Het
Il27ra	T	C	8: 84,758,179 (GRCm39)	M524V	probably benign	Het
Mdp1	C	A	14: 55,897,848 (GRCm39)		probably benign	Het
Med12l	A	G	3: 59,164,828 (GRCm39)	K1436R	probably damaging	Het
Megf10	C	T	18: 57,424,879 (GRCm39)	S1006F	probably benign	Het
Miga1	A	T	3: 151,984,645 (GRCm39)	I426N	probably damaging	Het
Mtmr6	C	T	14: 60,537,963 (GRCm39)	T654I	possibly damaging	Het
Nbeal1	A	G	1: 60,370,101 (GRCm39)	S2673G	possibly damaging	Het
Nup93	T	A	8: 95,028,716 (GRCm39)	H193Q	probably benign	Het
Or1e25	T	A	11: 73,494,265 (GRCm39)	N286K	probably damaging	Het
Or4f7	A	C	2: 111,644,405 (GRCm39)	L222W	probably damaging	Het
Or52ae9	T	C	7: 103,389,875 (GRCm39)	N191D	probably benign	Het
Pdcd11	C	T	19: 47,098,191 (GRCm39)	R826C	probably damaging	Het
Pde4dip	G	A	3: 97,662,907 (GRCm39)	R521*	probably null	Het
Phf2	T	C	13: 48,979,658 (GRCm39)	S158G	unknown	Het
Pla2g15	A	G	8: 106,889,826 (GRCm39)	E366G	probably benign	Het
Plekhm2	A	T	4: 141,359,344 (GRCm39)	H494Q	probably damaging	Het
Prpsap2	A	T	11: 61,639,890 (GRCm39)	M87K	probably damaging	Het
Rbm19	T	G	5: 120,258,195 (GRCm39)	S137A	probably benign	Het
Ryr2	T	A	13: 11,848,893 (GRCm39)	I363L	probably benign	Het
Samd9l	T	C	6: 3,376,896 (GRCm39)	T122A	probably benign	Het
Scn4a	G	C	11: 106,240,006 (GRCm39)	D70E	probably benign	Het
Slc12a3	T	A	8: 95,061,632 (GRCm39)	V293D	possibly damaging	Het
Slco2b1	A	T	7: 99,339,762 (GRCm39)	C9*	probably null	Het
Slitrk1	A	T	14: 109,148,735 (GRCm39)	S659T	possibly damaging	Het
Son	T	G	16: 91,452,044 (GRCm39)	S264A	possibly damaging	Het
Svep1	C	A	4: 58,100,066 (GRCm39)	G1326V	probably damaging	Het
Tcf12	A	G	9: 71,922,918 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,645,062 (GRCm39)	V11185A	probably damaging	Het
Ubap2	T	C	4: 41,203,574 (GRCm39)		probably null	Het
Utp15	G	T	13: 98,387,117 (GRCm39)	F434L	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vsnl1	T	G	12: 11,382,219 (GRCm39)		probably benign	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zbtb34	A	C	2: 33,301,558 (GRCm39)	S328A	probably damaging	Het
Zdbf2	T	C	1: 63,346,637 (GRCm39)	I1672T	possibly 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
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
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'- GGATCAGAATCCTTTGTTCCCTAC -3'
(R):5'- AAGGTAAGGCTCAGTGGTCC -3'

Sequencing Primer
(F):5'- CAGTCAGGCTGACCTCCAGTAC -3'
(R):5'- AAGGCTCAGTGGTCCTTGGC -3'

Posted On

2018-06-06