Incidental Mutation 'IGL01357:Glra1'
| ID |
75570 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glra1
|
| Ensembl Gene |
ENSMUSG00000000263 |
| Gene Name |
glycine receptor, alpha 1 subunit |
| Synonyms |
nmf11, B230397M16Rik, ot, oscillator |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.277)
|
| Stock # |
IGL01357
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
55405065-55499024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55405715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 425
(M425K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075603]
[ENSMUST00000102716]
[ENSMUST00000108853]
|
| AlphaFold |
Q64018 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075603
AA Change: M433K
PolyPhen 2
Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000075032
Gene: ENSMUSG00000000263
AA Change: M433K
| 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 |
possibly damaging
Transcript: ENSMUST00000102716
AA Change: M425K
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099777
Gene: ENSMUSG00000000263
AA Change: M425K
| 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 benign
Transcript: ENSMUST00000108853
AA Change: M342K
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000104481
Gene: ENSMUSG00000000263
AA Change: M342K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152968
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
C |
A |
8: 125,366,072 (GRCm39) |
V224F |
probably damaging |
Het |
| Abca4 |
T |
A |
3: 121,897,232 (GRCm39) |
M637K |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,922,398 (GRCm39) |
V1395A |
probably benign |
Het |
| Adam20 |
A |
C |
8: 41,249,597 (GRCm39) |
D569A |
probably benign |
Het |
| Axl |
A |
G |
7: 25,473,594 (GRCm39) |
L344P |
probably benign |
Het |
| B3gat1 |
T |
C |
9: 26,668,283 (GRCm39) |
L291P |
probably damaging |
Het |
| Cdc25c |
A |
T |
18: 34,867,910 (GRCm39) |
|
probably null |
Het |
| Crat |
A |
T |
2: 30,297,736 (GRCm39) |
Y263N |
probably damaging |
Het |
| Crb2 |
A |
G |
2: 37,685,523 (GRCm39) |
|
probably benign |
Het |
| Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
| Dnah7a |
A |
T |
1: 53,701,540 (GRCm39) |
V205D |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,240,077 (GRCm39) |
Y1011* |
probably null |
Het |
| Fbln5 |
C |
T |
12: 101,717,146 (GRCm39) |
S414N |
probably damaging |
Het |
| Fev |
T |
C |
1: 74,921,683 (GRCm39) |
E89G |
possibly damaging |
Het |
| Fgg |
A |
G |
3: 82,921,535 (GRCm39) |
E406G |
possibly damaging |
Het |
| Gm8214 |
C |
T |
1: 183,414,129 (GRCm39) |
|
noncoding transcript |
Het |
| Kdm3b |
A |
G |
18: 34,926,067 (GRCm39) |
E69G |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,895,877 (GRCm39) |
V89E |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,206,083 (GRCm39) |
N361I |
unknown |
Het |
| Macrod2 |
A |
G |
2: 142,226,250 (GRCm39) |
N457S |
probably damaging |
Het |
| Mal |
C |
A |
2: 127,482,234 (GRCm39) |
M56I |
probably damaging |
Het |
| Mfsd5 |
C |
T |
15: 102,189,882 (GRCm39) |
T418M |
probably benign |
Het |
| Mmaa |
C |
A |
8: 79,994,600 (GRCm39) |
R402L |
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,393,115 (GRCm39) |
|
probably benign |
Het |
| Nme1 |
A |
G |
11: 93,850,317 (GRCm39) |
S122P |
possibly damaging |
Het |
| Nxt1 |
A |
G |
2: 148,517,316 (GRCm39) |
E19G |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,107,874 (GRCm39) |
T994S |
probably benign |
Het |
| Orc2 |
T |
G |
1: 58,536,551 (GRCm39) |
E56D |
probably benign |
Het |
| Orc2 |
T |
C |
1: 58,536,552 (GRCm39) |
E56G |
probably benign |
Het |
| Pid1 |
G |
A |
1: 84,016,026 (GRCm39) |
T113I |
probably damaging |
Het |
| Plcg2 |
G |
A |
8: 118,340,900 (GRCm39) |
|
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,597,848 (GRCm39) |
V12A |
probably damaging |
Het |
| Serpinb9c |
C |
T |
13: 33,335,862 (GRCm39) |
V197I |
probably benign |
Het |
| Sfxn2 |
A |
T |
19: 46,574,212 (GRCm39) |
N134I |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,244,424 (GRCm39) |
R204G |
unknown |
Het |
| Strip2 |
A |
G |
6: 29,939,166 (GRCm39) |
|
probably benign |
Het |
| Tas2r135 |
A |
T |
6: 42,383,078 (GRCm39) |
I206L |
probably benign |
Het |
| Tmem243 |
A |
G |
5: 9,151,348 (GRCm39) |
T11A |
probably damaging |
Het |
| Tmprss11c |
A |
G |
5: 86,379,666 (GRCm39) |
V401A |
probably damaging |
Het |
| Trim50 |
T |
A |
5: 135,392,808 (GRCm39) |
I241N |
probably damaging |
Het |
| Ttn |
A |
C |
2: 76,781,864 (GRCm39) |
S1015A |
possibly damaging |
Het |
| Wee1 |
T |
C |
7: 109,741,242 (GRCm39) |
S622P |
probably benign |
Het |
|
| Other mutations in Glra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R5025:Glra1
|
UTSW |
11 |
55,427,331 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation