Incidental Mutation 'R5025:Glra1'
| ID |
391304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glra1
|
| Ensembl Gene |
ENSMUSG00000000263 |
| Gene Name |
glycine receptor, alpha 1 subunit |
| Synonyms |
nmf11, B230397M16Rik, ot, oscillator |
| MMRRC Submission |
042616-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.277)
|
| Stock # |
R5025 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
55405065-55499024 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
C to T
at 55427331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075603]
[ENSMUST00000102716]
[ENSMUST00000108853]
|
| AlphaFold |
Q64018 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075603
|
| SMART Domains |
Protein: ENSMUSP00000075032
Gene: ENSMUSG00000000263
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
38 |
248 |
1.2e-55 |
PFAM |
|
Pfam:Neur_chan_memb
|
255 |
400 |
2.8e-35 |
PFAM |
|
PDB:2M6I|E
|
416 |
453 |
5e-17 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102716
|
| SMART Domains |
Protein: ENSMUSP00000099777
Gene: ENSMUSG00000000263
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
Pfam:Neur_chan_LBD
|
39 |
248 |
7e-58 |
PFAM |
|
Pfam:Neur_chan_memb
|
255 |
355 |
3.7e-38 |
PFAM |
|
Pfam:Neur_chan_memb
|
344 |
435 |
1.1e-8 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000108853
|
| SMART Domains |
Protein: ENSMUSP00000104481
Gene: ENSMUSG00000000263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neur_chan_LBD
|
1 |
165 |
1.6e-46 |
PFAM |
|
Pfam:Neur_chan_memb
|
172 |
270 |
3.9e-38 |
PFAM |
|
Pfam:Neur_chan_memb
|
254 |
352 |
7.9e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.9493 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of a pentameric inhibitory glycine receptor, which mediates postsynaptic inhibition in the central nervous system. Defects in this gene are a cause of startle disease (STHE), also known as hereditary hyperekplexia or congenital stiff-person syndrome. Multiple transcript variants encoding different isoforms have been found. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mutations in this gene result in neurological defects for all alleles reported. Specific alleles also show affects on viability, reproductive performance, and/or eye and respiratory physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
A |
7: 119,153,719 (GRCm39) |
F10I |
unknown |
Het |
| Adad1 |
G |
T |
3: 37,119,359 (GRCm39) |
A147S |
probably damaging |
Het |
| Atg14 |
T |
G |
14: 47,783,273 (GRCm39) |
N354T |
probably damaging |
Het |
| Brip1 |
T |
A |
11: 85,955,806 (GRCm39) |
E902D |
probably benign |
Het |
| Brwd1 |
A |
G |
16: 95,855,172 (GRCm39) |
S419P |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,654,244 (GRCm39) |
K638R |
probably damaging |
Het |
| Dennd4c |
T |
A |
4: 86,713,536 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
C |
7: 119,671,128 (GRCm39) |
N585S |
probably benign |
Het |
| Eef1akmt2 |
C |
A |
7: 132,453,218 (GRCm39) |
W38L |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,702,734 (GRCm39) |
D1709E |
probably benign |
Het |
| Fbrsl1 |
T |
C |
5: 110,565,767 (GRCm39) |
D179G |
probably damaging |
Het |
| Fbxl18 |
A |
T |
5: 142,872,068 (GRCm39) |
I389N |
probably damaging |
Het |
| Fuca1 |
G |
T |
4: 135,660,237 (GRCm39) |
G252C |
probably damaging |
Het |
| Fut9 |
T |
A |
4: 25,620,502 (GRCm39) |
H104L |
probably damaging |
Het |
| Gpsm1 |
T |
C |
2: 26,210,008 (GRCm39) |
V45A |
possibly damaging |
Het |
| Hadha |
A |
G |
5: 30,359,959 (GRCm39) |
|
probably benign |
Het |
| Hddc2 |
C |
T |
10: 31,203,949 (GRCm39) |
T192I |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,377,608 (GRCm39) |
K3458M |
possibly damaging |
Het |
| Igkv14-100 |
A |
G |
6: 68,496,383 (GRCm39) |
D92G |
probably damaging |
Het |
| Il17rc |
T |
C |
6: 113,449,327 (GRCm39) |
V88A |
possibly damaging |
Het |
| Inpp5j |
T |
C |
11: 3,450,664 (GRCm39) |
D563G |
probably damaging |
Het |
| Lamc3 |
T |
A |
2: 31,798,681 (GRCm39) |
N462K |
probably benign |
Het |
| Mrpl15 |
T |
C |
1: 4,854,368 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Obi1 |
C |
T |
14: 104,745,466 (GRCm39) |
G70E |
probably damaging |
Het |
| Or2n1c |
T |
C |
17: 38,519,334 (GRCm39) |
L66P |
probably damaging |
Het |
| Or5b122 |
G |
T |
19: 13,562,886 (GRCm39) |
A30S |
probably benign |
Het |
| Psg20 |
T |
C |
7: 18,408,291 (GRCm39) |
*473W |
probably null |
Het |
| Rimbp3 |
A |
G |
16: 17,027,671 (GRCm39) |
E365G |
probably damaging |
Het |
| Snai2 |
A |
G |
16: 14,526,053 (GRCm39) |
T235A |
possibly damaging |
Het |
| Tg |
A |
T |
15: 66,579,779 (GRCm39) |
Y1528F |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,856,075 (GRCm39) |
V35A |
probably benign |
Het |
| Tnfsf15 |
T |
C |
4: 63,648,125 (GRCm39) |
I172V |
probably benign |
Het |
| Tns1 |
G |
A |
1: 73,964,641 (GRCm39) |
T1330I |
probably damaging |
Het |
| Zc3h6 |
T |
A |
2: 128,852,353 (GRCm39) |
F330I |
possibly damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,342,809 (GRCm39) |
E396G |
possibly damaging |
Het |
|
| Other mutations in Glra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01357:Glra1
|
APN |
11 |
55,405,715 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02792:Glra1
|
APN |
11 |
55,427,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03151:Glra1
|
APN |
11 |
55,418,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Adagio
|
UTSW |
11 |
55,418,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1331:Glra1
|
UTSW |
11 |
55,405,896 (GRCm39) |
missense |
probably benign |
|
|
R1666:Glra1
|
UTSW |
11 |
55,465,225 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4734:Glra1
|
UTSW |
11 |
55,427,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4749:Glra1
|
UTSW |
11 |
55,427,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4957:Glra1
|
UTSW |
11 |
55,418,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5496:Glra1
|
UTSW |
11 |
55,418,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5533:Glra1
|
UTSW |
11 |
55,423,208 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5837:Glra1
|
UTSW |
11 |
55,427,333 (GRCm39) |
splice site |
probably null |
|
|
R6023:Glra1
|
UTSW |
11 |
55,424,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Glra1
|
UTSW |
11 |
55,418,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Glra1
|
UTSW |
11 |
55,418,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6575:Glra1
|
UTSW |
11 |
55,411,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6971:Glra1
|
UTSW |
11 |
55,427,325 (GRCm39) |
nonsense |
probably null |
|
|
R7166:Glra1
|
UTSW |
11 |
55,405,904 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7912:Glra1
|
UTSW |
11 |
55,411,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7953:Glra1
|
UTSW |
11 |
55,424,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8043:Glra1
|
UTSW |
11 |
55,424,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8046:Glra1
|
UTSW |
11 |
55,427,225 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8758:Glra1
|
UTSW |
11 |
55,418,191 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9520:Glra1
|
UTSW |
11 |
55,405,897 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGCTGTAGAGGACATTGC -3'
(R):5'- TTGCATATACTTAGCTGAGGATGG -3'
Sequencing Primer
(F):5'- TAGAGGACATTGCCATTCCG -3'
(R):5'- CATATACTTAGCTGAGGATGGGGAGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation