Incidental Mutation 'IGL00323:Glrb'
| ID |
10974 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glrb
|
| Ensembl Gene |
ENSMUSG00000028020 |
| Gene Name |
glycine receptor, beta subunit |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00323
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
80750906-80820967 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80769262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 155
(D155G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029654]
[ENSMUST00000107743]
[ENSMUST00000132330]
[ENSMUST00000135043]
[ENSMUST00000194085]
|
| AlphaFold |
P48168 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029654
AA Change: D155G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029654
Gene: ENSMUSG00000028020
AA Change: D155G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
56 |
266 |
6.9e-55 |
PFAM |
|
Pfam:Neur_chan_memb
|
273 |
492 |
4.2e-37 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107743
AA Change: D155G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103372
Gene: ENSMUSG00000028020
AA Change: D155G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
56 |
266 |
5.7e-58 |
PFAM |
|
Pfam:Neur_chan_memb
|
273 |
302 |
9.7e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132330
|
| SMART Domains |
Protein: ENSMUSP00000115014
Gene: ENSMUSG00000028020
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135043
|
| SMART Domains |
Protein: ENSMUSP00000116604
Gene: ENSMUSG00000028020
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
55 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193031
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194085
AA Change: D155G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142306
Gene: ENSMUSG00000028020
AA Change: D155G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
56 |
264 |
6.9e-55 |
PFAM |
|
Pfam:Neur_chan_memb
|
248 |
441 |
1.1e-22 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes the beta subunit of the glycine receptor, which is a pentamer composed of alpha and beta subunits. The receptor functions as a neurotransmitter-gated ion channel, which produces hyperpolarization via increased chloride conductance due to the binding of glycine to the receptor. This gene is transcribed throughout the central nervous system of neonatal and adult mice. In humans, mutations in this gene cause startle disease, also known as hereditary hyperekplexia or congenital stiff-person syndrome, a disease characterized by muscular rigidity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
PHENOTYPE: Mutations in this gene result in a neurological disorder and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5m1 |
T |
C |
14: 49,311,247 (GRCm39) |
Y106H |
probably damaging |
Het |
| Atrnl1 |
C |
A |
19: 57,680,249 (GRCm39) |
N716K |
probably benign |
Het |
| Ccnq |
A |
G |
11: 78,641,782 (GRCm39) |
V236A |
probably benign |
Het |
| Cdk13 |
A |
T |
13: 17,895,683 (GRCm39) |
N1075K |
possibly damaging |
Het |
| Daam1 |
G |
A |
12: 72,005,517 (GRCm39) |
|
probably benign |
Het |
| Exd2 |
T |
C |
12: 80,522,940 (GRCm39) |
V133A |
probably damaging |
Het |
| Gm13941 |
T |
A |
2: 110,935,198 (GRCm39) |
M11L |
unknown |
Het |
| Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
| Inpp5d |
G |
T |
1: 87,611,537 (GRCm39) |
V329F |
probably benign |
Het |
| Lilrb4b |
A |
T |
10: 51,357,347 (GRCm39) |
D61V |
probably benign |
Het |
| Malt1 |
T |
A |
18: 65,582,034 (GRCm39) |
C299* |
probably null |
Het |
| Or10j27 |
G |
A |
1: 172,957,978 (GRCm39) |
Q269* |
probably null |
Het |
| Or4f14 |
A |
T |
2: 111,742,381 (GRCm39) |
M298K |
possibly damaging |
Het |
| Pigk |
C |
A |
3: 152,453,269 (GRCm39) |
S282* |
probably null |
Het |
| Pik3r1 |
T |
A |
13: 101,827,044 (GRCm39) |
M1L |
probably benign |
Het |
| Pnpla1 |
A |
G |
17: 29,096,416 (GRCm39) |
Y165C |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,524,702 (GRCm39) |
N631D |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,416,969 (GRCm39) |
D1381V |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,382,223 (GRCm39) |
|
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,210,745 (GRCm39) |
D1757E |
probably benign |
Het |
| Sec62 |
T |
C |
3: 30,864,591 (GRCm39) |
|
probably benign |
Het |
| Smarca5 |
G |
A |
8: 81,440,670 (GRCm39) |
T598M |
probably benign |
Het |
| Sptbn5 |
T |
C |
2: 119,884,948 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
C |
7: 127,141,885 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
T |
A |
14: 30,861,263 (GRCm39) |
E71D |
probably benign |
Het |
| Trhde |
A |
T |
10: 114,322,652 (GRCm39) |
S716R |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,726,859 (GRCm39) |
|
probably benign |
Het |
| Wscd2 |
A |
C |
5: 113,689,236 (GRCm39) |
T81P |
possibly damaging |
Het |
| Zfp335 |
G |
A |
2: 164,734,302 (GRCm39) |
T1295I |
probably damaging |
Het |
|
| Other mutations in Glrb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00850:Glrb
|
APN |
3 |
80,769,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01970:Glrb
|
APN |
3 |
80,769,232 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02023:Glrb
|
APN |
3 |
80,758,262 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02494:Glrb
|
APN |
3 |
80,752,539 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02703:Glrb
|
APN |
3 |
80,758,300 (GRCm39) |
missense |
probably benign |
0.19 |
|
I1329:Glrb
|
UTSW |
3 |
80,769,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0003:Glrb
|
UTSW |
3 |
80,763,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Glrb
|
UTSW |
3 |
80,767,622 (GRCm39) |
splice site |
probably benign |
|
|
R0010:Glrb
|
UTSW |
3 |
80,767,622 (GRCm39) |
splice site |
probably benign |
|
|
R0743:Glrb
|
UTSW |
3 |
80,786,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1367:Glrb
|
UTSW |
3 |
80,769,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1491:Glrb
|
UTSW |
3 |
80,819,282 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1699:Glrb
|
UTSW |
3 |
80,769,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Glrb
|
UTSW |
3 |
80,767,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1802:Glrb
|
UTSW |
3 |
80,769,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2420:Glrb
|
UTSW |
3 |
80,767,542 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2422:Glrb
|
UTSW |
3 |
80,767,542 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2517:Glrb
|
UTSW |
3 |
80,769,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3612:Glrb
|
UTSW |
3 |
80,769,337 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4287:Glrb
|
UTSW |
3 |
80,752,539 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4382:Glrb
|
UTSW |
3 |
80,786,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4546:Glrb
|
UTSW |
3 |
80,786,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4874:Glrb
|
UTSW |
3 |
80,758,349 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5816:Glrb
|
UTSW |
3 |
80,769,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5826:Glrb
|
UTSW |
3 |
80,752,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6711:Glrb
|
UTSW |
3 |
80,752,281 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7738:Glrb
|
UTSW |
3 |
80,767,491 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8206:Glrb
|
UTSW |
3 |
80,758,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Glrb
|
UTSW |
3 |
80,769,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8976:Glrb
|
UTSW |
3 |
80,758,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9077:Glrb
|
UTSW |
3 |
80,763,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9411:Glrb
|
UTSW |
3 |
80,767,610 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1088:Glrb
|
UTSW |
3 |
80,752,541 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Posted On |
2012-12-06 |
Incidental Mutation