Incidental Mutation 'R8496:Slc6a5'
| ID |
658272 |
| 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 |
067938-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8496 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
49559894-49613604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 49585960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 426
(V426D)
|
| 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 damaging
Transcript: ENSMUST00000056442
AA Change: V426D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058699
Gene: ENSMUSG00000039728
AA Change: V426D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107605
AA Change: V426D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103230
Gene: ENSMUSG00000039728
AA Change: V426D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SNF
|
185 |
734 |
1.6e-218 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207753
AA Change: V426D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209172
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
G |
5: 138,645,120 (GRCm39) |
E335G |
probably benign |
Het |
| Afp |
C |
T |
5: 90,639,572 (GRCm39) |
S34F |
probably damaging |
Het |
| Ano6 |
T |
A |
15: 95,847,807 (GRCm39) |
I639N |
probably damaging |
Het |
| Atp13a1 |
T |
G |
8: 70,250,618 (GRCm39) |
V411G |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,461,309 (GRCm39) |
C383S |
probably damaging |
Het |
| Capn2 |
T |
C |
1: 182,304,840 (GRCm39) |
I556V |
probably benign |
Het |
| Cd34 |
A |
G |
1: 194,642,089 (GRCm39) |
E322G |
probably benign |
Het |
| Cel |
T |
C |
2: 28,446,200 (GRCm39) |
D557G |
probably benign |
Het |
| Cemip |
T |
C |
7: 83,600,634 (GRCm39) |
I996V |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,453,182 (GRCm39) |
*514R |
probably null |
Het |
| Cry2 |
C |
G |
2: 92,257,284 (GRCm39) |
R95P |
probably damaging |
Het |
| Ctse |
T |
A |
1: 131,592,118 (GRCm39) |
I148N |
probably damaging |
Het |
| Cyp4f13 |
G |
C |
17: 33,143,833 (GRCm39) |
P497R |
probably damaging |
Het |
| Dsn1 |
C |
T |
2: 156,839,640 (GRCm39) |
V254M |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,843,377 (GRCm39) |
D755G |
possibly damaging |
Het |
| Gm4847 |
T |
A |
1: 166,469,761 (GRCm39) |
H104L |
possibly damaging |
Het |
| Gpr88 |
T |
C |
3: 116,046,117 (GRCm39) |
T65A |
possibly damaging |
Het |
| Gtse1 |
A |
G |
15: 85,746,283 (GRCm39) |
D33G |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,943,325 (GRCm39) |
Y455H |
probably benign |
Het |
| Kctd1 |
A |
T |
18: 15,107,228 (GRCm39) |
C150S |
probably damaging |
Het |
| Kctd11 |
T |
G |
11: 69,770,877 (GRCm39) |
T54P |
probably damaging |
Het |
| Kif1b |
C |
A |
4: 149,277,068 (GRCm39) |
G56* |
probably null |
Het |
| Kifap3 |
T |
A |
1: 163,656,866 (GRCm39) |
|
probably null |
Het |
| Naip5 |
G |
T |
13: 100,349,247 (GRCm39) |
H1360Q |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,147,127 (GRCm39) |
E1198G |
probably damaging |
Het |
| Nova1 |
T |
A |
12: 46,760,325 (GRCm39) |
K90* |
probably null |
Het |
| Odc1 |
T |
A |
12: 17,598,396 (GRCm39) |
L179H |
probably damaging |
Het |
| Or10w1 |
T |
A |
19: 13,632,388 (GRCm39) |
H193Q |
probably damaging |
Het |
| Or1ad8 |
T |
C |
11: 50,897,877 (GRCm39) |
V26A |
probably benign |
Het |
| Or1s2 |
A |
G |
19: 13,758,384 (GRCm39) |
N136S |
probably benign |
Het |
| Palm |
C |
T |
10: 79,642,485 (GRCm39) |
T6I |
probably benign |
Het |
| Parp10 |
T |
A |
15: 76,117,749 (GRCm39) |
D879V |
probably damaging |
Het |
| Phf2 |
A |
G |
13: 48,971,181 (GRCm39) |
V497A |
unknown |
Het |
| Pparg |
A |
G |
6: 115,440,112 (GRCm39) |
I199V |
probably benign |
Het |
| Ppm1b |
T |
A |
17: 85,301,660 (GRCm39) |
I180N |
probably damaging |
Het |
| Prdx5 |
A |
T |
19: 6,885,542 (GRCm39) |
C37* |
probably null |
Het |
| Ptprz1 |
A |
T |
6: 22,972,797 (GRCm39) |
T236S |
probably damaging |
Het |
| Rab5b |
G |
A |
10: 128,518,776 (GRCm39) |
Q119* |
probably null |
Het |
| Rdh19 |
T |
A |
10: 127,695,469 (GRCm39) |
W228R |
probably damaging |
Het |
| Schip1 |
G |
T |
3: 68,401,946 (GRCm39) |
G36C |
probably damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,819,383 (GRCm39) |
V321A |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,178,896 (GRCm39) |
E4526V |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,268,441 (GRCm39) |
K2083E |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,241,547 (GRCm39) |
I2143F |
probably benign |
Het |
| Tfap4 |
T |
C |
16: 4,369,170 (GRCm39) |
D90G |
probably damaging |
Het |
| Ttll12 |
T |
C |
15: 83,462,010 (GRCm39) |
Y569C |
probably damaging |
Het |
| Zfp326 |
T |
G |
5: 106,036,451 (GRCm39) |
S121A |
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 |
|
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 |
|
|
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'- TCCAGTGTTGTCAGAGCTTG -3'
(R):5'- AGAGTGGTCTACCCTGAGAATG -3'
Sequencing Primer
(F):5'- TCAGAGCTTGGGAAGACCTCAC -3'
(R):5'- GTGGTCTACCCTGAGAATGTCACAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation