Incidental Mutation 'R3917:Slc6a5'
| ID |
307345 |
| 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 |
040914-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3917 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
49559894-49613604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 49561617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 50
(S50P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146430
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056442]
[ENSMUST00000107605]
[ENSMUST00000207753]
[ENSMUST00000209172]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056442
AA Change: S50P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: S50P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107605
AA Change: S50P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: S50P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207753
AA Change: S50P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209172
AA Change: S50P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1030 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
97% (74/76) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
A |
G |
5: 121,737,277 (GRCm39) |
V498A |
probably damaging |
Het |
| Adam19 |
A |
G |
11: 45,951,762 (GRCm39) |
E37G |
probably benign |
Het |
| Apol11b |
A |
G |
15: 77,519,504 (GRCm39) |
I192T |
probably benign |
Het |
| Appl1 |
A |
T |
14: 26,650,561 (GRCm39) |
F537Y |
probably damaging |
Het |
| Atad5 |
A |
C |
11: 79,994,120 (GRCm39) |
K785N |
probably null |
Het |
| Atp1b2 |
A |
G |
11: 69,493,901 (GRCm39) |
V93A |
probably damaging |
Het |
| Bcam |
T |
C |
7: 19,499,375 (GRCm39) |
Y216C |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,464,292 (GRCm39) |
E1352G |
probably damaging |
Het |
| C030005K15Rik |
A |
C |
10: 97,561,453 (GRCm39) |
S93A |
unknown |
Het |
| Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
| Ccdc88c |
A |
G |
12: 100,907,366 (GRCm39) |
|
probably null |
Het |
| Ccdc89 |
A |
G |
7: 90,076,033 (GRCm39) |
D81G |
probably damaging |
Het |
| Ccnt1 |
A |
G |
15: 98,441,940 (GRCm39) |
S443P |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 179,933,719 (GRCm39) |
|
probably null |
Het |
| Cdk11b |
T |
C |
4: 155,711,258 (GRCm39) |
S47P |
probably damaging |
Het |
| Cfap43 |
T |
C |
19: 47,886,189 (GRCm39) |
D142G |
probably benign |
Het |
| Cntnap4 |
C |
G |
8: 113,602,165 (GRCm39) |
P1190A |
probably benign |
Het |
| Colgalt2 |
T |
A |
1: 152,384,362 (GRCm39) |
Y567* |
probably null |
Het |
| Dner |
CGCTGCTGCTGCTGCTGCTGCTGCTGC |
CGCTGCTGCTGCTGCTGCTGCTGC |
1: 84,563,270 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,904,922 (GRCm39) |
Y651C |
probably damaging |
Het |
| Fzd3 |
A |
T |
14: 65,473,379 (GRCm39) |
F130I |
probably damaging |
Het |
| Gabarapl2 |
T |
A |
8: 112,679,028 (GRCm39) |
F115L |
probably benign |
Het |
| Gm1043 |
G |
A |
5: 37,350,285 (GRCm39) |
|
probably benign |
Het |
| Gm12185 |
A |
G |
11: 48,806,760 (GRCm39) |
F144L |
probably benign |
Het |
| Gm21961 |
A |
T |
15: 64,886,733 (GRCm39) |
D7E |
unknown |
Het |
| Gtf3a |
A |
G |
5: 146,892,244 (GRCm39) |
K332E |
probably benign |
Het |
| Haao |
A |
G |
17: 84,146,228 (GRCm39) |
|
probably null |
Het |
| Habp2 |
T |
A |
19: 56,299,611 (GRCm39) |
C170S |
probably damaging |
Het |
| Heatr3 |
T |
G |
8: 88,876,999 (GRCm39) |
|
probably null |
Het |
| Herc1 |
T |
G |
9: 66,341,748 (GRCm39) |
C1846G |
possibly damaging |
Het |
| Hivep3 |
T |
C |
4: 119,956,624 (GRCm39) |
S1647P |
probably benign |
Het |
| Hnrnpul1 |
C |
T |
7: 25,426,300 (GRCm39) |
R517Q |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,286,625 (GRCm39) |
E3648G |
probably damaging |
Het |
| Jaml |
T |
C |
9: 45,012,449 (GRCm39) |
|
probably benign |
Het |
| Jund |
C |
T |
8: 71,151,673 (GRCm39) |
|
probably benign |
Het |
| Klra14-ps |
T |
C |
6: 130,134,595 (GRCm39) |
|
noncoding transcript |
Het |
| Krt88 |
G |
A |
15: 101,350,809 (GRCm39) |
|
probably null |
Het |
| Lrp5 |
G |
A |
19: 3,662,330 (GRCm39) |
R173C |
probably damaging |
Het |
| Lyzl4 |
T |
A |
9: 121,412,101 (GRCm39) |
D105V |
probably damaging |
Het |
| Mst1 |
A |
G |
9: 107,961,494 (GRCm39) |
I575V |
probably benign |
Het |
| Myd88 |
T |
C |
9: 119,170,464 (GRCm39) |
|
probably benign |
Het |
| Myo1d |
A |
T |
11: 80,557,404 (GRCm39) |
V512E |
probably damaging |
Het |
| Ndufv1 |
A |
G |
19: 4,060,002 (GRCm39) |
Y33H |
probably damaging |
Het |
| Nwd1 |
T |
A |
8: 73,394,439 (GRCm39) |
C608* |
probably null |
Het |
| Or10al2 |
T |
A |
17: 37,983,684 (GRCm39) |
F257I |
probably damaging |
Het |
| Or8b37 |
A |
T |
9: 37,958,841 (GRCm39) |
I108F |
probably damaging |
Het |
| Patj |
A |
T |
4: 98,480,245 (GRCm39) |
K1317* |
probably null |
Het |
| Pld5 |
A |
G |
1: 175,791,504 (GRCm39) |
S501P |
probably benign |
Het |
| Pnpo |
A |
G |
11: 96,830,583 (GRCm39) |
V146A |
probably damaging |
Het |
| Ppdpf |
A |
G |
2: 180,829,521 (GRCm39) |
Y16C |
probably benign |
Het |
| Ppp1r27 |
A |
G |
11: 120,441,785 (GRCm39) |
V32A |
possibly damaging |
Het |
| Rbm28 |
T |
C |
6: 29,154,788 (GRCm39) |
D294G |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,036,999 (GRCm39) |
D817E |
probably damaging |
Het |
| Shank3 |
A |
G |
15: 89,387,587 (GRCm39) |
D252G |
possibly damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,899,899 (GRCm39) |
|
probably null |
Het |
| Slc35a5 |
G |
C |
16: 44,978,521 (GRCm39) |
|
probably benign |
Het |
| Slfn8 |
A |
T |
11: 82,907,819 (GRCm39) |
Y241* |
probably null |
Het |
| Slu7 |
G |
T |
11: 43,331,511 (GRCm39) |
|
probably null |
Het |
| Smad2 |
T |
A |
18: 76,421,008 (GRCm39) |
D82E |
probably benign |
Het |
| Spx |
A |
C |
6: 142,359,757 (GRCm39) |
E33A |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,860,976 (GRCm39) |
Y205C |
probably damaging |
Het |
| Tekt1 |
A |
G |
11: 72,236,574 (GRCm39) |
I296T |
possibly damaging |
Het |
| Tgm1 |
G |
A |
14: 55,950,214 (GRCm39) |
|
probably benign |
Het |
| Tnks |
A |
G |
8: 35,320,515 (GRCm39) |
S719P |
probably damaging |
Het |
| Trip6 |
A |
G |
5: 137,311,941 (GRCm39) |
C47R |
probably benign |
Het |
| Trpv3 |
A |
G |
11: 73,174,560 (GRCm39) |
D309G |
possibly damaging |
Het |
| Tti2 |
A |
G |
8: 31,643,547 (GRCm39) |
K221E |
possibly damaging |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn1r57 |
A |
T |
7: 5,223,630 (GRCm39) |
N52Y |
probably damaging |
Het |
| Vmn2r94 |
A |
G |
17: 18,464,620 (GRCm39) |
F557L |
probably benign |
Het |
| Zbed5 |
T |
C |
5: 129,931,118 (GRCm39) |
Y356H |
possibly damaging |
Het |
| Zfp1005 |
T |
A |
2: 150,108,039 (GRCm39) |
|
probably benign |
Het |
| Zic4 |
C |
A |
9: 91,266,394 (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 |
|
|
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 |
|
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'- AACTTGACATTGTGTTTGCAGG -3'
(R):5'- ACGCAGAGCTGGAATCTTG -3'
Sequencing Primer
(F):5'- AGGATTGCAGTGCTCCCAAG -3'
(R):5'- CTGGAATCTTGCAGTGCAGAGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation