Incidental Mutation 'R0708:Glra3'
ID |
262022 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glra3
|
Ensembl Gene |
ENSMUSG00000038257 |
Gene Name |
glycine receptor, alpha 3 subunit |
Synonyms |
|
MMRRC Submission |
038891-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0708 (G1)
|
Quality Score |
125 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
56393495-56583105 bp(+) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
C to T
at 56578399 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000275]
[ENSMUST00000000275]
|
AlphaFold |
Q91XP5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000275
|
SMART Domains |
Protein: ENSMUSP00000000275 Gene: ENSMUSG00000038257
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:Neur_chan_LBD
|
59 |
269 |
3.7e-55 |
PFAM |
Pfam:Neur_chan_memb
|
276 |
434 |
1.4e-35 |
PFAM |
PDB:2M6I|E
|
437 |
474 |
1e-12 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000000275
|
SMART Domains |
Protein: ENSMUSP00000000275 Gene: ENSMUSG00000038257
Domain | Start | End | E-Value | Type |
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
Pfam:Neur_chan_LBD
|
59 |
269 |
3.7e-55 |
PFAM |
Pfam:Neur_chan_memb
|
276 |
434 |
1.4e-35 |
PFAM |
PDB:2M6I|E
|
437 |
474 |
1e-12 |
PDB |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ligand-gated ion channel protein family. The encoded protein is a member of the glycine receptor subfamily. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013] PHENOTYPE: Homozygous null mice are fertile and display decreased inflammatory pain sensitization without any gross abnormalities in the brain or spinal cord. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Brdt |
A |
T |
5: 107,506,766 (GRCm39) |
K450* |
probably null |
Het |
Cand2 |
G |
A |
6: 115,780,766 (GRCm39) |
E1217K |
probably damaging |
Het |
Col9a1 |
A |
T |
1: 24,276,342 (GRCm39) |
Q750L |
possibly damaging |
Het |
Dnah6 |
A |
T |
6: 73,189,605 (GRCm39) |
S14R |
probably benign |
Het |
Enox1 |
A |
G |
14: 77,830,352 (GRCm39) |
N319S |
probably benign |
Het |
Frs2 |
G |
A |
10: 116,909,997 (GRCm39) |
T455M |
probably damaging |
Het |
Gmppa |
T |
C |
1: 75,419,218 (GRCm39) |
F375S |
probably damaging |
Het |
Hectd4 |
G |
A |
5: 121,424,526 (GRCm39) |
|
probably null |
Het |
Hgf |
C |
A |
5: 16,771,761 (GRCm39) |
C129* |
probably null |
Het |
Insc |
T |
A |
7: 114,444,381 (GRCm39) |
V456E |
probably damaging |
Het |
Ints14 |
G |
A |
9: 64,891,266 (GRCm39) |
V416I |
probably benign |
Het |
Klk1b11 |
T |
C |
7: 43,647,152 (GRCm39) |
F29L |
possibly damaging |
Het |
Ogfod1 |
C |
T |
8: 94,765,673 (GRCm39) |
L79F |
possibly damaging |
Het |
Or8d2b |
T |
A |
9: 38,788,571 (GRCm39) |
V33E |
probably damaging |
Het |
Orc3 |
A |
T |
4: 34,597,368 (GRCm39) |
I224N |
probably damaging |
Het |
Papss2 |
T |
C |
19: 32,614,616 (GRCm39) |
F111L |
probably damaging |
Het |
Poc1b |
A |
G |
10: 98,990,992 (GRCm39) |
D291G |
probably null |
Het |
Prl8a8 |
A |
T |
13: 27,695,528 (GRCm39) |
M72K |
possibly damaging |
Het |
Ptpn7 |
C |
A |
1: 135,062,285 (GRCm39) |
T77K |
probably damaging |
Het |
Ptpro |
T |
C |
6: 137,363,251 (GRCm39) |
S462P |
probably benign |
Het |
Rab3gap2 |
T |
A |
1: 184,982,123 (GRCm39) |
S392T |
probably damaging |
Het |
Sema4d |
A |
G |
13: 51,866,755 (GRCm39) |
V245A |
probably benign |
Het |
Sgcb |
A |
T |
5: 73,798,225 (GRCm39) |
|
probably null |
Het |
Slc24a1 |
T |
A |
9: 64,855,172 (GRCm39) |
K578N |
unknown |
Het |
Sptbn1 |
A |
T |
11: 30,064,739 (GRCm39) |
V1920E |
probably damaging |
Het |
Tecr |
A |
T |
8: 84,299,738 (GRCm39) |
I101N |
probably damaging |
Het |
Tectb |
T |
C |
19: 55,179,984 (GRCm39) |
F277L |
probably benign |
Het |
Tgs1 |
T |
A |
4: 3,586,152 (GRCm39) |
L343H |
probably benign |
Het |
Thbs4 |
C |
A |
13: 92,909,694 (GRCm39) |
G368W |
probably damaging |
Het |
Zfp558 |
T |
C |
9: 18,368,123 (GRCm39) |
S222G |
possibly damaging |
Het |
|
Other mutations in Glra3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00835:Glra3
|
APN |
8 |
56,394,012 (GRCm39) |
splice site |
probably benign |
|
IGL01301:Glra3
|
APN |
8 |
56,393,997 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01772:Glra3
|
APN |
8 |
56,542,090 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02280:Glra3
|
APN |
8 |
56,394,006 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02386:Glra3
|
APN |
8 |
56,542,063 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02508:Glra3
|
APN |
8 |
56,538,179 (GRCm39) |
missense |
probably benign |
0.10 |
IGL03094:Glra3
|
APN |
8 |
56,578,207 (GRCm39) |
missense |
probably benign |
|
ANU18:Glra3
|
UTSW |
8 |
56,393,997 (GRCm39) |
missense |
probably benign |
0.00 |
R0532:Glra3
|
UTSW |
8 |
56,578,111 (GRCm39) |
missense |
probably benign |
|
R0710:Glra3
|
UTSW |
8 |
56,578,399 (GRCm39) |
utr 3 prime |
probably benign |
|
R0927:Glra3
|
UTSW |
8 |
56,578,239 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1125:Glra3
|
UTSW |
8 |
56,492,789 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1138:Glra3
|
UTSW |
8 |
56,542,011 (GRCm39) |
splice site |
probably null |
|
R1717:Glra3
|
UTSW |
8 |
56,393,942 (GRCm39) |
missense |
probably benign |
0.07 |
R1718:Glra3
|
UTSW |
8 |
56,393,942 (GRCm39) |
missense |
probably benign |
0.07 |
R1848:Glra3
|
UTSW |
8 |
56,393,942 (GRCm39) |
missense |
probably benign |
0.07 |
R1933:Glra3
|
UTSW |
8 |
56,393,942 (GRCm39) |
missense |
probably benign |
0.07 |
R1934:Glra3
|
UTSW |
8 |
56,393,942 (GRCm39) |
missense |
probably benign |
0.07 |
R2042:Glra3
|
UTSW |
8 |
56,515,494 (GRCm39) |
missense |
probably benign |
0.36 |
R2571:Glra3
|
UTSW |
8 |
56,563,516 (GRCm39) |
missense |
probably benign |
0.41 |
R3123:Glra3
|
UTSW |
8 |
56,578,244 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3124:Glra3
|
UTSW |
8 |
56,578,244 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4585:Glra3
|
UTSW |
8 |
56,542,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R4593:Glra3
|
UTSW |
8 |
56,393,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R4981:Glra3
|
UTSW |
8 |
56,444,270 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5277:Glra3
|
UTSW |
8 |
56,444,242 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5356:Glra3
|
UTSW |
8 |
56,393,936 (GRCm39) |
missense |
probably benign |
0.00 |
R6214:Glra3
|
UTSW |
8 |
56,444,291 (GRCm39) |
splice site |
probably null |
|
R6941:Glra3
|
UTSW |
8 |
56,393,961 (GRCm39) |
missense |
probably benign |
0.00 |
R7976:Glra3
|
UTSW |
8 |
56,565,911 (GRCm39) |
critical splice donor site |
probably null |
|
R8354:Glra3
|
UTSW |
8 |
56,578,345 (GRCm39) |
nonsense |
probably null |
|
R8401:Glra3
|
UTSW |
8 |
56,542,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R8909:Glra3
|
UTSW |
8 |
56,444,159 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9399:Glra3
|
UTSW |
8 |
56,542,079 (GRCm39) |
missense |
probably damaging |
0.99 |
R9515:Glra3
|
UTSW |
8 |
56,578,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R9598:Glra3
|
UTSW |
8 |
56,393,718 (GRCm39) |
start gained |
probably benign |
|
R9731:Glra3
|
UTSW |
8 |
56,542,058 (GRCm39) |
missense |
probably damaging |
1.00 |
R9801:Glra3
|
UTSW |
8 |
56,563,563 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Glra3
|
UTSW |
8 |
56,515,535 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
|
Posted On |
2015-02-04 |