Incidental Mutation 'R0710:Glra3'
| ID |
261998 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glra3
|
| Ensembl Gene |
ENSMUSG00000038257 |
| Gene Name |
glycine receptor, alpha 3 subunit |
| Synonyms |
|
| MMRRC Submission |
038893-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0710 (G1)
|
| Quality Score |
83 |
|
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: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Celsr2 |
A |
G |
3: 108,320,028 (GRCm39) |
V928A |
probably benign |
Het |
| Farp1 |
C |
T |
14: 121,474,555 (GRCm39) |
T256M |
probably damaging |
Het |
| Fbxl3 |
G |
T |
14: 103,326,751 (GRCm39) |
H162Q |
probably damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,372,759 (GRCm39) |
S260P |
unknown |
Het |
| Hectd4 |
G |
A |
5: 121,474,691 (GRCm39) |
V2771I |
probably benign |
Het |
| Hgf |
C |
A |
5: 16,771,761 (GRCm39) |
C129* |
probably null |
Het |
| Hmg20a |
G |
A |
9: 56,381,954 (GRCm39) |
D77N |
possibly damaging |
Het |
| Iqch |
A |
T |
9: 63,432,418 (GRCm39) |
S287T |
probably benign |
Het |
| Kcnj11 |
T |
C |
7: 45,748,549 (GRCm39) |
Y258C |
probably benign |
Het |
| Kif1c |
A |
G |
11: 70,617,323 (GRCm39) |
T874A |
probably benign |
Het |
| Mlc1 |
G |
T |
15: 88,862,067 (GRCm39) |
Q50K |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,548,848 (GRCm39) |
S544P |
possibly damaging |
Het |
| Mypop |
A |
T |
7: 18,734,485 (GRCm39) |
|
probably null |
Het |
| Poli |
A |
T |
18: 70,655,961 (GRCm39) |
|
probably null |
Het |
| Rasa3 |
C |
A |
8: 13,633,830 (GRCm39) |
V478L |
probably damaging |
Het |
| Scn3a |
A |
T |
2: 65,299,390 (GRCm39) |
M1372K |
probably damaging |
Het |
| Sinhcaf |
A |
G |
6: 148,834,498 (GRCm39) |
|
probably null |
Het |
| Sis |
T |
C |
3: 72,859,864 (GRCm39) |
Q297R |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,586,074 (GRCm39) |
D172G |
possibly damaging |
Het |
| Tulp2 |
T |
A |
7: 45,170,232 (GRCm39) |
V301D |
possibly damaging |
Het |
| Ubr2 |
G |
A |
17: 47,249,607 (GRCm39) |
R1582W |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,783,181 (GRCm39) |
S706P |
probably damaging |
Het |
| Vmn1r171 |
C |
A |
7: 23,332,426 (GRCm39) |
S205Y |
probably damaging |
Het |
| Wnk4 |
G |
A |
11: 101,164,932 (GRCm39) |
A754T |
probably benign |
Het |
| Zfp282 |
C |
T |
6: 47,857,318 (GRCm39) |
R184W |
probably 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 |
|
|
R0708: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 |
Incidental Mutation