Incidental Mutation 'R6971:Glra1'
ID |
542261 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glra1
|
Ensembl Gene |
ENSMUSG00000000263 |
Gene Name |
glycine receptor, alpha 1 subunit |
Synonyms |
nmf11, B230397M16Rik, ot, oscillator |
MMRRC Submission |
045081-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.277)
|
Stock # |
R6971 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
55405065-55499024 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 55427325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 3
(Y3*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075603]
[ENSMUST00000102716]
[ENSMUST00000108853]
|
AlphaFold |
Q64018 |
Predicted Effect |
probably null
Transcript: ENSMUST00000075603
AA Change: Y86*
|
SMART Domains |
Protein: ENSMUSP00000075032 Gene: ENSMUSG00000000263 AA Change: Y86*
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
AA Change: Y86*
|
SMART Domains |
Protein: ENSMUSP00000099777 Gene: ENSMUSG00000000263 AA Change: Y86*
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
AA Change: Y3*
|
SMART Domains |
Protein: ENSMUSP00000104481 Gene: ENSMUSG00000000263 AA Change: Y3*
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.1%
|
Validation Efficiency |
96% (47/49) |
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 |
1700113H08Rik |
A |
T |
10: 87,000,903 (GRCm39) |
T32S |
possibly damaging |
Het |
2210408I21Rik |
A |
G |
13: 77,341,306 (GRCm39) |
S52G |
possibly damaging |
Het |
Aadacl4 |
G |
A |
4: 144,349,303 (GRCm39) |
V187M |
probably damaging |
Het |
Adprhl1 |
T |
A |
8: 13,273,476 (GRCm39) |
Q1094L |
probably benign |
Het |
Amigo1 |
C |
T |
3: 108,095,452 (GRCm39) |
S317L |
probably benign |
Het |
Brca1 |
A |
G |
11: 101,424,831 (GRCm39) |
F32L |
probably benign |
Het |
C1qtnf7 |
T |
A |
5: 43,766,392 (GRCm39) |
|
probably null |
Het |
Ccdc88c |
A |
T |
12: 100,920,486 (GRCm39) |
D378E |
probably damaging |
Het |
Ccdc97 |
G |
T |
7: 25,414,384 (GRCm39) |
Y123* |
probably null |
Het |
Cdk10 |
T |
A |
8: 123,954,413 (GRCm39) |
M46K |
probably damaging |
Het |
Dsc3 |
A |
G |
18: 20,099,275 (GRCm39) |
|
probably null |
Het |
Ephx3 |
T |
A |
17: 32,407,177 (GRCm39) |
N254Y |
possibly damaging |
Het |
Fnip2 |
G |
A |
3: 79,388,428 (GRCm39) |
R768* |
probably null |
Het |
Gltpd2 |
A |
G |
11: 70,411,290 (GRCm39) |
T194A |
probably damaging |
Het |
Hectd1 |
A |
T |
12: 51,795,526 (GRCm39) |
L2301* |
probably null |
Het |
Hmcn1 |
T |
A |
1: 150,868,802 (GRCm39) |
M1L |
probably benign |
Het |
Hmcn2 |
G |
A |
2: 31,322,333 (GRCm39) |
E4133K |
probably benign |
Het |
Hps3 |
A |
T |
3: 20,065,699 (GRCm39) |
L714I |
probably damaging |
Het |
Igfbpl1 |
A |
G |
4: 45,816,333 (GRCm39) |
V164A |
possibly damaging |
Het |
Ip6k2 |
T |
C |
9: 108,674,510 (GRCm39) |
|
probably benign |
Het |
Itgb8 |
A |
T |
12: 119,154,366 (GRCm39) |
Y224N |
probably damaging |
Het |
Kcnt2 |
T |
C |
1: 140,440,646 (GRCm39) |
L624S |
probably benign |
Het |
Mdga2 |
A |
G |
12: 66,597,335 (GRCm39) |
Y720H |
probably damaging |
Het |
Mier2 |
G |
A |
10: 79,378,263 (GRCm39) |
H385Y |
possibly damaging |
Het |
Msl2 |
T |
C |
9: 100,978,042 (GRCm39) |
F139L |
probably benign |
Het |
Nuggc |
T |
C |
14: 65,846,305 (GRCm39) |
V72A |
probably benign |
Het |
Or9k2b |
A |
T |
10: 130,016,638 (GRCm39) |
V37E |
possibly damaging |
Het |
Pde2a |
T |
A |
7: 101,159,520 (GRCm39) |
Y783* |
probably null |
Het |
Pfkfb2 |
A |
G |
1: 130,628,533 (GRCm39) |
Y358H |
probably damaging |
Het |
Pou2f1 |
A |
G |
1: 165,759,258 (GRCm39) |
S23P |
probably damaging |
Het |
Prrc2a |
T |
C |
17: 35,378,477 (GRCm39) |
|
probably null |
Het |
Prss36 |
T |
C |
7: 127,544,410 (GRCm39) |
T92A |
probably benign |
Het |
Rnft2 |
A |
G |
5: 118,332,635 (GRCm39) |
|
probably benign |
Het |
Sbno2 |
A |
G |
10: 79,895,868 (GRCm39) |
V971A |
possibly damaging |
Het |
Sec63 |
A |
G |
10: 42,659,438 (GRCm39) |
E42G |
probably damaging |
Het |
Setdb2 |
A |
T |
14: 59,653,189 (GRCm39) |
L371Q |
probably damaging |
Het |
Shprh |
A |
T |
10: 11,042,437 (GRCm39) |
I807F |
probably damaging |
Het |
Slc3a2 |
T |
C |
19: 8,686,974 (GRCm39) |
|
probably null |
Het |
Srbd1 |
T |
C |
17: 86,406,718 (GRCm39) |
I556V |
possibly damaging |
Het |
Stim2 |
T |
A |
5: 54,275,641 (GRCm39) |
C605* |
probably null |
Het |
Tecrl |
T |
C |
5: 83,502,649 (GRCm39) |
T67A |
possibly damaging |
Het |
Ttc33 |
C |
A |
15: 5,241,523 (GRCm39) |
A116E |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,772,393 (GRCm39) |
T2503I |
possibly damaging |
Het |
Ubp1 |
T |
C |
9: 113,801,831 (GRCm39) |
I468T |
probably damaging |
Het |
Urgcp |
A |
T |
11: 5,668,115 (GRCm39) |
H74Q |
probably benign |
Het |
Vcan |
A |
G |
13: 89,826,252 (GRCm39) |
I2224T |
probably damaging |
Het |
Vmn1r8 |
T |
A |
6: 57,013,400 (GRCm39) |
N150K |
probably damaging |
Het |
Vmn2r3 |
A |
G |
3: 64,166,668 (GRCm39) |
M821T |
probably damaging |
Het |
Zfp777 |
C |
A |
6: 48,001,625 (GRCm39) |
A866S |
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 |
R6575:Glra1
|
UTSW |
11 |
55,411,822 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- ACCTGATGCTGTAGAGGACATTG -3'
(R):5'- CATATACTTAGCTGAGGATGGGG -3'
Sequencing Primer
(F):5'- TAGAGGACATTGCCATTCCG -3'
(R):5'- GAGGGGTGATACTGGTCCC -3'
|
Posted On |
2018-11-28 |