Incidental Mutation 'R8786:Slc6a5'
| ID |
670634 |
| 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 |
068632-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8786 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
49559894-49613604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 49561843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 125
(D125V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056442]
[ENSMUST00000107605]
[ENSMUST00000207753]
[ENSMUST00000209172]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056442
AA Change: D125V
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: D125V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107605
AA Change: D125V
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: D125V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207753
AA Change: D125V
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209172
AA Change: D125V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (72/72) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
A |
T |
3: 95,592,784 (GRCm39) |
M1K |
probably null |
Het |
| Atg2a |
G |
T |
19: 6,294,460 (GRCm39) |
V59L |
probably damaging |
Het |
| Atxn7 |
C |
A |
14: 14,103,316 (GRCm38) |
T888K |
possibly damaging |
Het |
| Btbd9 |
T |
C |
17: 30,749,144 (GRCm39) |
R57G |
probably damaging |
Het |
| Catspere2 |
T |
A |
1: 177,843,362 (GRCm39) |
|
probably benign |
Het |
| Catspere2 |
G |
A |
1: 177,843,555 (GRCm39) |
|
probably benign |
Het |
| Ccdc9b |
C |
A |
2: 118,587,732 (GRCm39) |
S534I |
unknown |
Het |
| Crp |
T |
C |
1: 172,526,293 (GRCm39) |
V126A |
probably benign |
Het |
| Csf1r |
A |
T |
18: 61,247,942 (GRCm39) |
T337S |
probably damaging |
Het |
| Dcaf12 |
T |
C |
4: 41,296,439 (GRCm39) |
N299S |
probably damaging |
Het |
| Dcaf17 |
T |
C |
2: 70,917,744 (GRCm39) |
|
probably null |
Het |
| Dip2c |
A |
G |
13: 9,665,830 (GRCm39) |
D985G |
probably damaging |
Het |
| Dtna |
A |
G |
18: 23,716,190 (GRCm39) |
T138A |
probably benign |
Het |
| Emid1 |
T |
C |
11: 5,081,517 (GRCm39) |
D212G |
probably benign |
Het |
| Epyc |
G |
A |
10: 97,511,525 (GRCm39) |
D173N |
probably damaging |
Het |
| Fanci |
A |
G |
7: 79,052,298 (GRCm39) |
D162G |
probably benign |
Het |
| Firrm |
A |
T |
1: 163,792,040 (GRCm39) |
L626Q |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,317,501 (GRCm39) |
V827A |
probably benign |
Het |
| Ggps1 |
T |
C |
13: 14,228,505 (GRCm39) |
E226G |
probably benign |
Het |
| Gopc |
G |
A |
10: 52,230,750 (GRCm39) |
R183* |
probably null |
Het |
| Grik4 |
C |
T |
9: 42,453,130 (GRCm39) |
G752S |
probably damaging |
Het |
| H2-D1 |
T |
A |
17: 35,482,844 (GRCm39) |
C125S |
probably damaging |
Het |
| H2-Q1 |
T |
A |
17: 35,539,869 (GRCm39) |
V46D |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,219,862 (GRCm39) |
N126S |
probably damaging |
Het |
| Igsf10 |
G |
A |
3: 59,238,063 (GRCm39) |
T706I |
probably benign |
Het |
| Kmt2e |
A |
G |
5: 23,669,864 (GRCm39) |
D117G |
probably damaging |
Het |
| Kmt5a |
C |
T |
5: 124,584,074 (GRCm39) |
A18V |
probably benign |
Het |
| Krtap29-1 |
C |
T |
11: 99,869,465 (GRCm39) |
G139R |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,838,100 (GRCm39) |
Y872C |
probably damaging |
Het |
| Lrriq4 |
T |
A |
3: 30,704,752 (GRCm39) |
M260K |
probably benign |
Het |
| Map2 |
G |
A |
1: 66,472,755 (GRCm39) |
|
probably benign |
Het |
| Mrpl51 |
C |
T |
6: 125,169,340 (GRCm39) |
A8V |
probably benign |
Het |
| Ndufs3 |
T |
C |
2: 90,732,778 (GRCm39) |
T103A |
probably benign |
Het |
| Numa1 |
T |
G |
7: 101,647,616 (GRCm39) |
L449R |
probably benign |
Het |
| Or10g3b |
C |
T |
14: 52,587,021 (GRCm39) |
A161T |
possibly damaging |
Het |
| Pan3 |
C |
T |
5: 147,424,951 (GRCm39) |
P295S |
possibly damaging |
Het |
| Pds5b |
T |
C |
5: 150,704,134 (GRCm39) |
S846P |
probably damaging |
Het |
| Phf2 |
A |
T |
13: 48,967,219 (GRCm39) |
M712K |
unknown |
Het |
| Phlda2 |
A |
T |
7: 143,056,211 (GRCm39) |
V6E |
probably benign |
Het |
| Pkdrej |
C |
A |
15: 85,704,044 (GRCm39) |
A631S |
probably benign |
Het |
| Plcd3 |
G |
T |
11: 102,962,569 (GRCm39) |
N627K |
probably damaging |
Het |
| Prpf6 |
T |
C |
2: 181,262,415 (GRCm39) |
I138T |
possibly damaging |
Het |
| Psd4 |
G |
A |
2: 24,295,444 (GRCm39) |
S866N |
probably benign |
Het |
| Ptprb |
A |
C |
10: 116,155,306 (GRCm39) |
T400P |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,570,677 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
A |
G |
7: 110,063,793 (GRCm39) |
|
probably null |
Het |
| Serpinb9h |
G |
A |
13: 33,588,204 (GRCm39) |
R263H |
probably benign |
Het |
| Setd4 |
C |
T |
16: 93,390,162 (GRCm39) |
R89Q |
probably benign |
Het |
| Sgpp1 |
A |
G |
12: 75,763,152 (GRCm39) |
I343T |
probably benign |
Het |
| Sh2b2 |
T |
C |
5: 136,260,658 (GRCm39) |
D186G |
probably benign |
Het |
| Slc12a4 |
A |
T |
8: 106,680,549 (GRCm39) |
I191N |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,232,549 (GRCm39) |
D251V |
probably benign |
Het |
| Slf1 |
T |
A |
13: 77,274,806 (GRCm39) |
I16F |
possibly damaging |
Het |
| Sncaip |
T |
C |
18: 53,031,334 (GRCm39) |
V521A |
probably damaging |
Het |
| Spmip10 |
T |
C |
18: 56,727,568 (GRCm39) |
F89L |
probably damaging |
Het |
| Stx19 |
T |
C |
16: 62,642,775 (GRCm39) |
L197P |
probably damaging |
Het |
| Sucla2 |
A |
G |
14: 73,797,905 (GRCm39) |
N39D |
probably benign |
Het |
| Sult1d1 |
T |
A |
5: 87,712,575 (GRCm39) |
T90S |
probably benign |
Het |
| Syna |
C |
T |
5: 134,588,723 (GRCm39) |
M75I |
probably benign |
Het |
| Tas2r138 |
A |
G |
6: 40,589,611 (GRCm39) |
S212P |
probably damaging |
Het |
| Tdrd3 |
T |
A |
14: 87,709,637 (GRCm39) |
C106* |
probably null |
Het |
| Tlk2 |
C |
T |
11: 105,172,059 (GRCm39) |
A743V |
unknown |
Het |
| Tlr3 |
T |
C |
8: 45,851,286 (GRCm39) |
D537G |
possibly damaging |
Het |
| Tmc1 |
A |
G |
19: 20,803,953 (GRCm39) |
Y375H |
probably damaging |
Het |
| Tsen54 |
T |
A |
11: 115,711,498 (GRCm39) |
M305K |
probably damaging |
Het |
| Umod |
C |
T |
7: 119,076,581 (GRCm39) |
V62M |
possibly damaging |
Het |
| Vmn1r10 |
A |
G |
6: 57,091,010 (GRCm39) |
T201A |
probably benign |
Het |
| Vmn1r103 |
T |
C |
7: 20,243,676 (GRCm39) |
T262A |
probably benign |
Het |
| Vmn2r100 |
T |
C |
17: 19,742,838 (GRCm39) |
V404A |
probably damaging |
Het |
| Vmn2r56 |
A |
G |
7: 12,449,393 (GRCm39) |
F282L |
probably damaging |
Het |
| Wdr64 |
A |
T |
1: 175,636,327 (GRCm39) |
K982* |
probably null |
Het |
| Xpo6 |
A |
T |
7: 125,712,127 (GRCm39) |
|
probably benign |
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 |
|
R5817:Slc6a5
|
UTSW |
7 |
49,606,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- CAGTCCGGAGTAGGGTTTTGTAATC -3'
(R):5'- CCCGTTTCAACATCAGCATACG -3'
Sequencing Primer
(F):5'- TAGGGTTTTGTAATCTCAGCAGCCC -3'
(R):5'- ATACGTGCACCCGCCAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation