Incidental Mutation 'R5817:Slc6a5'
| ID |
449099 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc6a5
|
| Ensembl Gene |
ENSMUSG00000039728 |
| Gene Name |
solute carrier family 6 (neurotransmitter transporter, glycine), member 5 |
| Synonyms |
Glyt2 |
| MMRRC Submission |
043397-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5817 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
49559894-49613604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 49606239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 716
(L716I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056442]
[ENSMUST00000107605]
[ENSMUST00000207753]
[ENSMUST00000209172]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056442
AA Change: L716I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: L716I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107605
AA Change: L716I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: L716I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207753
AA Change: L716I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209172
|
| Meta Mutation Damage Score |
0.0960 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (71/71) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a sodium- and chloride-dependent glycine neurotransmitter transporter. This integral membrane glycoprotein is responsible for the clearance of extracellular glycine during glycine-mediated neurotransmission. This protein is found in glycinergic axons and maintains a high presynaptic pool of neurotransmitter at glycinergic synapses. Mutations in this gene cause hyperekplexia; a heterogenous neurological disorder characterized by exaggerated startle responses and neonatal apnea. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous mutant mice appear normal at birth but develop a complex neuromotor phenotype involving tremors, rigidity, and an impaired righting ability. Mutant mice die approximately 2 weeks after birth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
G |
4: 144,349,497 (GRCm39) |
I251M |
probably benign |
Het |
| Abcf3 |
T |
C |
16: 20,367,833 (GRCm39) |
V63A |
possibly damaging |
Het |
| Agpat4 |
C |
T |
17: 12,434,097 (GRCm39) |
|
probably benign |
Het |
| Ahcyl2 |
G |
A |
6: 29,890,720 (GRCm39) |
V292M |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,740,437 (GRCm39) |
F406I |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgef5 |
G |
A |
6: 43,252,038 (GRCm39) |
D930N |
probably benign |
Het |
| Cc2d2a |
G |
A |
5: 43,869,760 (GRCm39) |
R887Q |
probably damaging |
Het |
| Ceacam18 |
A |
G |
7: 43,291,265 (GRCm39) |
T236A |
probably benign |
Het |
| Chst15 |
A |
T |
7: 131,870,873 (GRCm39) |
Y221N |
probably damaging |
Het |
| Chst15 |
G |
A |
7: 131,870,876 (GRCm39) |
L220F |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,446,486 (GRCm39) |
T784I |
probably benign |
Het |
| D630003M21Rik |
A |
G |
2: 158,038,413 (GRCm39) |
L1011P |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 6,996,905 (GRCm39) |
D3894V |
probably damaging |
Het |
| Eif1ad19 |
G |
T |
12: 87,740,201 (GRCm39) |
D119E |
probably benign |
Het |
| Fam13b |
T |
C |
18: 34,590,850 (GRCm39) |
M443V |
possibly damaging |
Het |
| Fam20a |
T |
A |
11: 109,564,244 (GRCm39) |
Q503L |
possibly damaging |
Het |
| Ftdc2 |
T |
C |
16: 58,457,156 (GRCm39) |
I89V |
probably benign |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5454 |
T |
A |
13: 103,493,140 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5581 |
A |
G |
6: 131,144,132 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6619 |
A |
G |
6: 131,463,400 (GRCm39) |
I6V |
unknown |
Het |
| Gmcl1 |
A |
G |
6: 86,691,230 (GRCm39) |
M255T |
probably damaging |
Het |
| Golm2 |
T |
A |
2: 121,736,525 (GRCm39) |
S231T |
probably benign |
Het |
| Gprc5c |
T |
A |
11: 114,754,450 (GRCm39) |
C42* |
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,613,275 (GRCm39) |
E1384V |
possibly damaging |
Het |
| Il6 |
A |
G |
5: 30,223,006 (GRCm39) |
I91V |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,760,244 (GRCm39) |
S1005T |
unknown |
Het |
| Map1a |
A |
T |
2: 121,129,391 (GRCm39) |
H143L |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 111,922,866 (GRCm39) |
T624S |
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,422,508 (GRCm39) |
N549K |
possibly damaging |
Het |
| Ncr1 |
T |
A |
7: 4,343,894 (GRCm39) |
I164N |
possibly damaging |
Het |
| Or10ak11 |
T |
G |
4: 118,687,296 (GRCm39) |
T115P |
probably damaging |
Het |
| Or51a5 |
A |
T |
7: 102,771,115 (GRCm39) |
M292K |
possibly damaging |
Het |
| Or52m1 |
A |
G |
7: 102,289,585 (GRCm39) |
N44S |
probably damaging |
Het |
| Or8d2b |
A |
G |
9: 38,788,673 (GRCm39) |
D67G |
probably damaging |
Het |
| Palmd |
T |
C |
3: 116,712,272 (GRCm39) |
I541M |
probably benign |
Het |
| Pcsk7 |
A |
T |
9: 45,837,331 (GRCm39) |
M552L |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,879,154 (GRCm39) |
E626G |
possibly damaging |
Het |
| Pole |
G |
A |
5: 110,460,838 (GRCm39) |
D1176N |
probably damaging |
Het |
| Polr2f |
T |
C |
15: 79,035,869 (GRCm39) |
I110T |
probably damaging |
Het |
| Pomt1 |
A |
T |
2: 32,138,691 (GRCm39) |
I436F |
probably damaging |
Het |
| Prag1 |
A |
C |
8: 36,570,857 (GRCm39) |
Q480P |
probably damaging |
Het |
| Qars1 |
C |
T |
9: 108,387,441 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,175,406 (GRCm39) |
S1797L |
probably damaging |
Het |
| Rbm26 |
T |
C |
14: 105,366,039 (GRCm39) |
T832A |
probably damaging |
Het |
| Rnf169 |
A |
G |
7: 99,574,976 (GRCm39) |
S540P |
probably benign |
Het |
| Serpini1 |
T |
A |
3: 75,520,631 (GRCm39) |
M76K |
probably benign |
Het |
| Shq1 |
A |
G |
6: 100,550,681 (GRCm39) |
L419S |
probably damaging |
Het |
| Slc25a17 |
G |
A |
15: 81,211,261 (GRCm39) |
T225M |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 84,951,984 (GRCm39) |
V1149A |
probably damaging |
Het |
| Trappc1 |
A |
T |
11: 69,215,060 (GRCm39) |
Q26L |
possibly damaging |
Het |
| Trpm2 |
C |
A |
10: 77,801,814 (GRCm39) |
G84W |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,573,010 (GRCm39) |
T24215M |
probably damaging |
Het |
| Ubn2 |
C |
A |
6: 38,456,088 (GRCm39) |
T337K |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,196,158 (GRCm39) |
K1265E |
probably damaging |
Het |
| Vmn1r214 |
T |
G |
13: 23,219,491 (GRCm39) |
I328M |
probably damaging |
Het |
| Xcr1 |
C |
T |
9: 123,684,922 (GRCm39) |
C280Y |
possibly damaging |
Het |
| Zc3h13 |
A |
G |
14: 75,565,572 (GRCm39) |
E895G |
probably damaging |
Het |
|
| Other mutations in Slc6a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01373:Slc6a5
|
APN |
7 |
49,567,481 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01821:Slc6a5
|
APN |
7 |
49,564,601 (GRCm39) |
intron |
probably benign |
|
|
R0084:Slc6a5
|
UTSW |
7 |
49,579,761 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0266:Slc6a5
|
UTSW |
7 |
49,588,156 (GRCm39) |
splice site |
probably benign |
|
|
R0411:Slc6a5
|
UTSW |
7 |
49,561,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0621:Slc6a5
|
UTSW |
7 |
49,567,113 (GRCm39) |
splice site |
probably null |
|
|
R1649:Slc6a5
|
UTSW |
7 |
49,586,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Slc6a5
|
UTSW |
7 |
49,606,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1889:Slc6a5
|
UTSW |
7 |
49,601,182 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2084:Slc6a5
|
UTSW |
7 |
49,598,002 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2098:Slc6a5
|
UTSW |
7 |
49,595,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2365:Slc6a5
|
UTSW |
7 |
49,596,284 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2516:Slc6a5
|
UTSW |
7 |
49,606,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3622:Slc6a5
|
UTSW |
7 |
49,567,371 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3752:Slc6a5
|
UTSW |
7 |
49,586,062 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3848:Slc6a5
|
UTSW |
7 |
49,577,306 (GRCm39) |
splice site |
probably benign |
|
|
R3917:Slc6a5
|
UTSW |
7 |
49,561,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4617:Slc6a5
|
UTSW |
7 |
49,561,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4663:Slc6a5
|
UTSW |
7 |
49,588,146 (GRCm39) |
nonsense |
probably null |
|
|
R4757:Slc6a5
|
UTSW |
7 |
49,609,030 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4916:Slc6a5
|
UTSW |
7 |
49,598,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5183:Slc6a5
|
UTSW |
7 |
49,585,957 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5257:Slc6a5
|
UTSW |
7 |
49,579,740 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5512:Slc6a5
|
UTSW |
7 |
49,591,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5537:Slc6a5
|
UTSW |
7 |
49,609,059 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5558:Slc6a5
|
UTSW |
7 |
49,577,321 (GRCm39) |
missense |
probably benign |
|
|
R5627:Slc6a5
|
UTSW |
7 |
49,561,522 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5655:Slc6a5
|
UTSW |
7 |
49,606,218 (GRCm39) |
missense |
probably benign |
|
|
R5720:Slc6a5
|
UTSW |
7 |
49,606,264 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5736:Slc6a5
|
UTSW |
7 |
49,609,102 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5879:Slc6a5
|
UTSW |
7 |
49,595,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Slc6a5
|
UTSW |
7 |
49,609,099 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6033:Slc6a5
|
UTSW |
7 |
49,609,099 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6072:Slc6a5
|
UTSW |
7 |
49,561,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6157:Slc6a5
|
UTSW |
7 |
49,601,250 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6172:Slc6a5
|
UTSW |
7 |
49,598,081 (GRCm39) |
nonsense |
probably null |
|
|
R6414:Slc6a5
|
UTSW |
7 |
49,559,991 (GRCm39) |
unclassified |
probably benign |
|
|
R7348:Slc6a5
|
UTSW |
7 |
49,559,915 (GRCm39) |
unclassified |
probably benign |
|
|
R7381:Slc6a5
|
UTSW |
7 |
49,579,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7486:Slc6a5
|
UTSW |
7 |
49,567,078 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7624:Slc6a5
|
UTSW |
7 |
49,591,614 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7735:Slc6a5
|
UTSW |
7 |
49,598,090 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7760:Slc6a5
|
UTSW |
7 |
49,596,365 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8174:Slc6a5
|
UTSW |
7 |
49,598,057 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8219:Slc6a5
|
UTSW |
7 |
49,561,911 (GRCm39) |
missense |
probably benign |
|
|
R8496:Slc6a5
|
UTSW |
7 |
49,585,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8786:Slc6a5
|
UTSW |
7 |
49,561,843 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9300:Slc6a5
|
UTSW |
7 |
49,601,175 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9400:Slc6a5
|
UTSW |
7 |
49,595,267 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9401:Slc6a5
|
UTSW |
7 |
49,601,185 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9557:Slc6a5
|
UTSW |
7 |
49,561,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9646:Slc6a5
|
UTSW |
7 |
49,567,496 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Slc6a5
|
UTSW |
7 |
49,561,605 (GRCm39) |
missense |
probably benign |
0.40 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCCTTTCAGAGAGATGAGAGTG -3'
(R):5'- AGTGGCAACTGGGATGACTTAC -3'
Sequencing Primer
(F):5'- CCTTTCAGAGAGATGAGAGTGTACAC -3'
(R):5'- TGGGATGACTTACTCACCCAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation