Incidental Mutation 'R2084:Slc6a5'
| ID |
230202 |
| 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 |
040089-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2084 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
49559894-49613604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49598002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 622
(M622K)
|
| 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: M622K
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: M622K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107605
AA Change: M622K
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: M622K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207753
AA Change: M622K
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209172
|
| Meta Mutation Damage Score |
0.3133 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (53/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd36 |
C |
T |
11: 5,612,378 (GRCm39) |
Q1237* |
probably null |
Het |
| Aph1c |
T |
G |
9: 66,726,579 (GRCm39) |
R258S |
probably damaging |
Het |
| Arfgap3 |
T |
A |
15: 83,218,767 (GRCm39) |
N102I |
probably damaging |
Het |
| Astn1 |
T |
C |
1: 158,299,978 (GRCm39) |
V106A |
probably damaging |
Het |
| BC005537 |
G |
T |
13: 24,996,698 (GRCm39) |
|
probably null |
Het |
| Card10 |
G |
A |
15: 78,677,171 (GRCm39) |
T412M |
possibly damaging |
Het |
| Cars1 |
T |
C |
7: 143,140,919 (GRCm39) |
I126M |
probably benign |
Het |
| Cfap20dc |
T |
C |
14: 8,558,171 (GRCm38) |
D138G |
probably damaging |
Het |
| Col11a1 |
C |
T |
3: 113,951,791 (GRCm39) |
R1074C |
probably damaging |
Het |
| Cpped1 |
T |
C |
16: 11,646,365 (GRCm39) |
D153G |
probably damaging |
Het |
| Cyp2j11 |
T |
A |
4: 96,227,438 (GRCm39) |
I193F |
probably damaging |
Het |
| Dnm2 |
T |
C |
9: 21,411,667 (GRCm39) |
|
probably null |
Het |
| Efemp1 |
A |
G |
11: 28,865,763 (GRCm39) |
D288G |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,205,286 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
G |
A |
7: 27,856,960 (GRCm39) |
V2103M |
probably damaging |
Het |
| Fcrl5 |
T |
C |
3: 87,351,537 (GRCm39) |
F262L |
probably benign |
Het |
| Gh |
G |
A |
11: 106,191,958 (GRCm39) |
P84L |
probably damaging |
Het |
| Gm10267 |
T |
C |
18: 44,290,397 (GRCm39) |
R37G |
probably benign |
Het |
| Hmgxb3 |
C |
T |
18: 61,288,095 (GRCm39) |
|
probably benign |
Het |
| Ifit2 |
T |
C |
19: 34,550,750 (GRCm39) |
W97R |
probably damaging |
Het |
| Ift81 |
T |
G |
5: 122,705,410 (GRCm39) |
K491Q |
probably benign |
Het |
| Ints8 |
A |
G |
4: 11,230,377 (GRCm39) |
V488A |
probably benign |
Het |
| Krba1 |
T |
A |
6: 48,391,502 (GRCm39) |
L797Q |
probably damaging |
Het |
| Krr1 |
T |
C |
10: 111,812,690 (GRCm39) |
V100A |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,535,158 (GRCm39) |
|
probably benign |
Het |
| Nos1 |
C |
A |
5: 118,081,310 (GRCm39) |
Q1205K |
probably damaging |
Het |
| Nup85 |
A |
T |
11: 115,459,517 (GRCm39) |
D125V |
possibly damaging |
Het |
| Or5ak23 |
T |
C |
2: 85,244,959 (GRCm39) |
E88G |
probably benign |
Het |
| Pclo |
T |
G |
5: 14,732,162 (GRCm39) |
S3555A |
probably benign |
Het |
| Pdzrn3 |
T |
C |
6: 101,131,256 (GRCm39) |
I473V |
probably benign |
Het |
| Polr1a |
A |
G |
6: 71,927,793 (GRCm39) |
E848G |
possibly damaging |
Het |
| Pop1 |
T |
C |
15: 34,508,744 (GRCm39) |
|
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,425,920 (GRCm39) |
T8S |
probably damaging |
Het |
| Prpf3 |
C |
T |
3: 95,756,301 (GRCm39) |
E117K |
probably benign |
Het |
| Psmg3 |
C |
T |
5: 139,809,744 (GRCm39) |
V101M |
probably benign |
Het |
| Rexo1 |
G |
A |
10: 80,397,100 (GRCm39) |
S52L |
probably benign |
Het |
| Ryk |
C |
T |
9: 102,752,971 (GRCm39) |
T210M |
probably damaging |
Het |
| Sde2 |
A |
G |
1: 180,690,198 (GRCm39) |
E306G |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,741,347 (GRCm39) |
Q658R |
probably benign |
Het |
| Sgsm1 |
G |
A |
5: 113,433,266 (GRCm39) |
T183I |
probably damaging |
Het |
| Skint7 |
T |
A |
4: 111,837,375 (GRCm39) |
V51E |
probably damaging |
Het |
| Slco1a5 |
T |
C |
6: 142,180,437 (GRCm39) |
H655R |
probably benign |
Het |
| Slco1c1 |
T |
A |
6: 141,505,578 (GRCm39) |
Y452* |
probably null |
Het |
| Spn |
T |
C |
7: 126,736,210 (GRCm39) |
E99G |
probably benign |
Het |
| Ssc5d |
A |
G |
7: 4,940,011 (GRCm39) |
I789V |
probably benign |
Het |
| Taok2 |
G |
A |
7: 126,469,363 (GRCm39) |
T1155I |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,193,528 (GRCm39) |
Q302R |
possibly damaging |
Het |
| Trmt1l |
A |
G |
1: 151,316,605 (GRCm39) |
T189A |
probably damaging |
Het |
| Tubal3 |
T |
C |
13: 3,978,192 (GRCm39) |
I36T |
possibly damaging |
Het |
| Vmn2r71 |
A |
T |
7: 85,267,945 (GRCm39) |
Y133F |
probably benign |
Het |
| Vps11 |
G |
T |
9: 44,264,558 (GRCm39) |
H673N |
probably benign |
Het |
| Zc3h12a |
C |
T |
4: 125,013,802 (GRCm39) |
S354N |
probably benign |
Het |
| Zfp2 |
A |
G |
11: 50,791,789 (GRCm39) |
S85P |
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 |
|
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 |
|
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'- ACAAGTCTCCAGTTTACATGCC -3'
(R):5'- TCCTCACAGTGAATCTGAGGC -3'
Sequencing Primer
(F):5'- ACATGCCTTGTCCAGGTATAG -3'
(R):5'- TCACAGTGAATCTGAGGCAAGCTC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation