Incidental Mutation 'R2517:Glrb'
| ID |
253897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glrb
|
| Ensembl Gene |
ENSMUSG00000028020 |
| Gene Name |
glycine receptor, beta subunit |
| Synonyms |
|
| MMRRC Submission |
040421-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2517 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
80750906-80820967 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80769054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 189
(L189Q)
|
| 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: L189Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029654
Gene: ENSMUSG00000028020
AA Change: L189Q
| 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: L189Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103372
Gene: ENSMUSG00000028020
AA Change: L189Q
| 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: L189Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142306
Gene: ENSMUSG00000028020
AA Change: L189Q
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.2%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
C |
A |
14: 56,019,403 (GRCm39) |
E82D |
probably damaging |
Het |
| Ago1 |
G |
A |
4: 126,333,732 (GRCm39) |
R486* |
probably null |
Het |
| Ago2 |
T |
A |
15: 72,996,091 (GRCm39) |
N346I |
possibly damaging |
Het |
| Apol11a |
A |
T |
15: 77,401,395 (GRCm39) |
D294V |
probably benign |
Het |
| Atp13a5 |
A |
G |
16: 29,116,215 (GRCm39) |
F634L |
possibly damaging |
Het |
| Atp2a2 |
G |
A |
5: 122,595,576 (GRCm39) |
P953L |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,463,137 (GRCm39) |
D967G |
probably benign |
Het |
| Bud13 |
A |
T |
9: 46,199,446 (GRCm39) |
H269L |
probably benign |
Het |
| Cachd1 |
A |
T |
4: 100,838,079 (GRCm39) |
|
probably null |
Het |
| Cog3 |
T |
C |
14: 75,979,182 (GRCm39) |
D188G |
probably benign |
Het |
| Col15a1 |
T |
C |
4: 47,208,492 (GRCm39) |
S20P |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,658,431 (GRCm39) |
D838G |
unknown |
Het |
| Cwh43 |
A |
T |
5: 73,578,886 (GRCm39) |
T298S |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,659,041 (GRCm39) |
R847G |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,407,470 (GRCm39) |
D438N |
probably damaging |
Het |
| Drg2 |
T |
C |
11: 60,358,954 (GRCm39) |
V358A |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,171,168 (GRCm39) |
W220R |
probably damaging |
Het |
| Enpp2 |
A |
T |
15: 54,783,090 (GRCm39) |
I75K |
probably damaging |
Het |
| Fam110c |
T |
C |
12: 31,125,238 (GRCm39) |
I400T |
probably damaging |
Het |
| Fam193b |
C |
A |
13: 55,690,629 (GRCm39) |
R711L |
probably damaging |
Het |
| Fgfr1 |
T |
C |
8: 26,053,462 (GRCm39) |
Y246H |
probably damaging |
Het |
| Frs3 |
G |
A |
17: 48,013,997 (GRCm39) |
R230Q |
probably benign |
Het |
| Galnt5 |
A |
G |
2: 57,889,425 (GRCm39) |
K342E |
probably benign |
Het |
| Gmeb2 |
T |
C |
2: 180,900,819 (GRCm39) |
T193A |
probably benign |
Het |
| Gnl3 |
A |
G |
14: 30,736,120 (GRCm39) |
S307P |
probably damaging |
Het |
| Golim4 |
A |
T |
3: 75,800,166 (GRCm39) |
F443I |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Klf10 |
A |
C |
15: 38,297,357 (GRCm39) |
Y228D |
probably benign |
Het |
| Klrc3 |
A |
T |
6: 129,616,520 (GRCm39) |
W166R |
probably damaging |
Het |
| Kng2 |
A |
T |
16: 22,807,065 (GRCm39) |
I378N |
probably benign |
Het |
| Map3k10 |
T |
C |
7: 27,362,688 (GRCm39) |
K466R |
possibly damaging |
Het |
| Mrrf |
C |
T |
2: 36,079,109 (GRCm39) |
T245M |
probably benign |
Het |
| Msi1 |
A |
G |
5: 115,583,517 (GRCm39) |
Y239C |
probably damaging |
Het |
| Nfasc |
A |
G |
1: 132,525,501 (GRCm39) |
|
probably null |
Het |
| Or1x6 |
T |
A |
11: 50,939,300 (GRCm39) |
L122Q |
probably damaging |
Het |
| Or7g25 |
A |
T |
9: 19,160,357 (GRCm39) |
C113S |
probably benign |
Het |
| P3r3urf |
A |
G |
4: 116,030,791 (GRCm39) |
D65G |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,908,900 (GRCm39) |
E368G |
unknown |
Het |
| Polq |
G |
A |
16: 36,909,687 (GRCm39) |
G2078D |
probably damaging |
Het |
| Ppfibp1 |
A |
C |
6: 146,893,942 (GRCm39) |
I134L |
probably damaging |
Het |
| Rasip1 |
A |
T |
7: 45,284,247 (GRCm39) |
I608F |
probably damaging |
Het |
| Ripk3 |
A |
T |
14: 56,025,492 (GRCm39) |
V24E |
probably damaging |
Het |
| Rtkn |
T |
A |
6: 83,124,526 (GRCm39) |
I110N |
probably damaging |
Het |
| Scn1a |
C |
T |
2: 66,104,176 (GRCm39) |
V1695I |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,606,042 (GRCm39) |
N75S |
possibly damaging |
Het |
| Snu13 |
C |
A |
15: 81,928,182 (GRCm39) |
A14S |
probably benign |
Het |
| Snx27 |
A |
C |
3: 94,438,541 (GRCm39) |
D231E |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,725,283 (GRCm39) |
I158T |
possibly damaging |
Het |
| Sptb |
A |
G |
12: 76,696,643 (GRCm39) |
I19T |
possibly damaging |
Het |
| Ssu72 |
T |
C |
4: 155,817,970 (GRCm39) |
L175P |
probably damaging |
Het |
| Tcstv2a |
T |
A |
13: 120,725,475 (GRCm39) |
C46* |
probably null |
Het |
| Tecr |
C |
T |
8: 84,299,204 (GRCm39) |
V248I |
probably benign |
Het |
| Tnfrsf13b |
T |
G |
11: 61,032,302 (GRCm39) |
S59A |
probably benign |
Het |
| Tom1l1 |
T |
C |
11: 90,561,951 (GRCm39) |
T150A |
possibly damaging |
Het |
| Ubr3 |
A |
T |
2: 69,766,362 (GRCm39) |
Y410F |
probably damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,692,577 (GRCm39) |
I93T |
probably damaging |
Het |
| Vmn2r19 |
A |
G |
6: 123,306,937 (GRCm39) |
T482A |
probably benign |
Het |
| Vstm4 |
T |
A |
14: 32,585,664 (GRCm39) |
M77K |
probably benign |
Het |
| Zbtb17 |
C |
T |
4: 141,191,896 (GRCm39) |
T309I |
probably damaging |
Het |
| Zfp957 |
T |
C |
14: 79,451,494 (GRCm39) |
T102A |
probably damaging |
Het |
|
| Other mutations in Glrb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Glrb
|
APN |
3 |
80,769,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAAGTTAGTCCAGTCTTCAG -3'
(R):5'- GAGACGTCCTTGTGAGCATG -3'
Sequencing Primer
(F):5'- TGGAAAGCTCTGTCTTCTTCAAG -3'
(R):5'- TCCTTGTGAGCATGAGGTACCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation