Incidental Mutation 'R6575:Glra1'
| ID |
523407 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glra1
|
| Ensembl Gene |
ENSMUSG00000000263 |
| Gene Name |
glycine receptor, alpha 1 subunit |
| Synonyms |
nmf11, B230397M16Rik, ot, oscillator |
| MMRRC Submission |
044699-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.277)
|
| Stock # |
R6575 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
55405065-55499024 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55411822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 246
(Y246H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104481
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075603]
[ENSMUST00000102716]
[ENSMUST00000108853]
|
| AlphaFold |
Q64018 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075603
AA Change: Y329H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000075032
Gene: ENSMUSG00000000263
AA Change: Y329H
| 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 damaging
Transcript: ENSMUST00000102716
AA Change: Y329H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099777
Gene: ENSMUSG00000000263
AA Change: Y329H
| 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 damaging
Transcript: ENSMUST00000108853
AA Change: Y246H
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104481
Gene: ENSMUSG00000000263
AA Change: Y246H
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,330,683 (GRCm39) |
Y1177C |
probably damaging |
Het |
| Acnat1 |
A |
G |
4: 49,450,785 (GRCm39) |
Y109H |
possibly damaging |
Het |
| Adgrf3 |
T |
A |
5: 30,401,522 (GRCm39) |
K835N |
possibly damaging |
Het |
| Afg1l |
T |
C |
10: 42,194,712 (GRCm39) |
D360G |
probably damaging |
Het |
| Ap3s1 |
C |
T |
18: 46,887,448 (GRCm39) |
T27M |
probably benign |
Het |
| Atp8b4 |
A |
G |
2: 126,256,284 (GRCm39) |
L225P |
probably damaging |
Het |
| Bicra |
G |
A |
7: 15,713,056 (GRCm39) |
T997I |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,995,411 (GRCm39) |
R112G |
probably damaging |
Het |
| Cabin1 |
T |
C |
10: 75,561,535 (GRCm39) |
T989A |
possibly damaging |
Het |
| Cog1 |
C |
A |
11: 113,546,887 (GRCm39) |
Q494K |
probably benign |
Het |
| Cyb5rl |
T |
C |
4: 106,942,550 (GRCm39) |
Y160H |
probably benign |
Het |
| Dnajb8 |
A |
G |
6: 88,200,057 (GRCm39) |
N198D |
probably damaging |
Het |
| Eif1ad11 |
T |
C |
12: 87,994,117 (GRCm39) |
I115T |
probably damaging |
Het |
| Eif3l |
C |
A |
15: 78,970,778 (GRCm39) |
Q351K |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,916,301 (GRCm39) |
|
probably benign |
Het |
| Fam3c |
G |
T |
6: 22,329,607 (GRCm39) |
A40D |
probably damaging |
Het |
| Fcrla |
A |
G |
1: 170,749,797 (GRCm39) |
S87P |
probably damaging |
Het |
| Gm45871 |
T |
A |
18: 90,609,844 (GRCm39) |
C361S |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,547,347 (GRCm39) |
N1522D |
possibly damaging |
Het |
| Hcn4 |
T |
C |
9: 58,731,435 (GRCm39) |
M214T |
unknown |
Het |
| Heatr5b |
A |
T |
17: 79,070,418 (GRCm39) |
V1665E |
probably damaging |
Het |
| Hemgn |
C |
A |
4: 46,395,990 (GRCm39) |
M415I |
possibly damaging |
Het |
| Hibadh |
G |
A |
6: 52,524,013 (GRCm39) |
T295I |
probably damaging |
Het |
| Iars1 |
T |
C |
13: 49,878,745 (GRCm39) |
L947P |
probably damaging |
Het |
| Icam2 |
G |
A |
11: 106,269,585 (GRCm39) |
T178I |
probably damaging |
Het |
| Lbr |
A |
G |
1: 181,663,763 (GRCm39) |
S86P |
probably damaging |
Het |
| Lipe |
G |
A |
7: 25,082,749 (GRCm39) |
T801I |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,518,934 (GRCm39) |
T44A |
possibly damaging |
Het |
| Malrd1 |
A |
G |
2: 15,847,439 (GRCm39) |
H1193R |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Myh10 |
A |
G |
11: 68,699,676 (GRCm39) |
I1671V |
probably benign |
Het |
| Or2c1 |
A |
G |
16: 3,656,894 (GRCm39) |
D19G |
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,930,129 (GRCm39) |
D334G |
possibly damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,098,117 (GRCm39) |
D801G |
probably damaging |
Het |
| Pfdn4 |
C |
A |
2: 170,358,556 (GRCm39) |
D16E |
probably benign |
Het |
| Pmp22 |
C |
T |
11: 63,049,099 (GRCm39) |
A114V |
probably damaging |
Het |
| Rrp9 |
C |
T |
9: 106,360,778 (GRCm39) |
T253I |
probably damaging |
Het |
| Speer1m |
A |
T |
5: 11,970,612 (GRCm39) |
K62* |
probably null |
Het |
| Tnrc6a |
A |
G |
7: 122,769,133 (GRCm39) |
T308A |
probably damaging |
Het |
| Trgv4 |
T |
A |
13: 19,369,250 (GRCm39) |
C34S |
probably benign |
Het |
| Trhr |
A |
G |
15: 44,092,602 (GRCm39) |
M280V |
possibly damaging |
Het |
| Trp53bp1 |
G |
A |
2: 121,059,084 (GRCm39) |
H926Y |
probably damaging |
Het |
| Trpv5 |
A |
T |
6: 41,652,903 (GRCm39) |
I90K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,719,259 (GRCm39) |
|
probably benign |
Het |
| Vav1 |
A |
C |
17: 57,612,280 (GRCm39) |
R513S |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,741,671 (GRCm39) |
T128S |
probably benign |
Het |
| Zfp687 |
T |
C |
3: 94,915,700 (GRCm39) |
Y1024C |
probably damaging |
Het |
| Zfp938 |
C |
A |
10: 82,061,160 (GRCm39) |
G487* |
probably null |
Het |
| Znrf2 |
A |
G |
6: 54,855,430 (GRCm39) |
Y73C |
probably 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 |
|
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 |
|
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'- CAGTCCAGTGAAACACAGGTC -3'
(R):5'- AGTATCTGCTTCGGGGAAGG -3'
Sequencing Primer
(F):5'- ACAGGTCACCGATTGCTTAG -3'
(R):5'- TGTTCAGAACAGTGCGCAGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation