Incidental Mutation 'IGL00835:Glra3'
| ID |
12633 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glra3
|
| Ensembl Gene |
ENSMUSG00000038257 |
| Gene Name |
glycine receptor, alpha 3 subunit |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00835
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
56393495-56583105 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 56394012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[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 |
noncoding transcript
Transcript: ENSMUST00000164020
|
| Coding Region Coverage |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,341,892 (GRCm39) |
D1023G |
probably damaging |
Het |
| Agbl3 |
A |
G |
6: 34,776,667 (GRCm39) |
D391G |
probably damaging |
Het |
| Aggf1 |
C |
A |
13: 95,498,985 (GRCm39) |
V450F |
probably damaging |
Het |
| Alms1 |
A |
G |
6: 85,599,116 (GRCm39) |
Y1314C |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,537,106 (GRCm39) |
F192L |
probably benign |
Het |
| Arnt |
A |
G |
3: 95,397,651 (GRCm39) |
D541G |
probably damaging |
Het |
| AU040320 |
A |
G |
4: 126,650,864 (GRCm39) |
|
probably null |
Het |
| Cep290 |
A |
T |
10: 100,399,242 (GRCm39) |
R2255* |
probably null |
Het |
| Creb3l4 |
T |
A |
3: 90,149,294 (GRCm39) |
H138L |
possibly damaging |
Het |
| Crispld2 |
G |
A |
8: 120,737,387 (GRCm39) |
R46H |
probably damaging |
Het |
| Crlf3 |
T |
C |
11: 79,938,501 (GRCm39) |
T379A |
probably benign |
Het |
| Ctsb |
T |
A |
14: 63,373,099 (GRCm39) |
D85E |
probably damaging |
Het |
| Etv2 |
A |
T |
7: 30,333,092 (GRCm39) |
D325E |
probably benign |
Het |
| Fggy |
T |
A |
4: 95,725,865 (GRCm39) |
I335N |
possibly damaging |
Het |
| Fkbp1b |
C |
T |
12: 4,883,726 (GRCm39) |
G90S |
probably damaging |
Het |
| Gpatch8 |
C |
A |
11: 102,369,375 (GRCm39) |
A1388S |
probably damaging |
Het |
| Grin2b |
T |
A |
6: 135,710,568 (GRCm39) |
S993C |
probably damaging |
Het |
| Gsg1 |
A |
T |
6: 135,221,090 (GRCm39) |
M103K |
possibly damaging |
Het |
| Il12rb2 |
A |
T |
6: 67,337,551 (GRCm39) |
V110D |
probably damaging |
Het |
| Kat8 |
A |
G |
7: 127,519,676 (GRCm39) |
D174G |
probably damaging |
Het |
| Krt82 |
A |
T |
15: 101,451,813 (GRCm39) |
I334N |
probably damaging |
Het |
| Lrrfip1 |
C |
T |
1: 91,043,140 (GRCm39) |
T515I |
possibly damaging |
Het |
| Lrrtm2 |
T |
A |
18: 35,347,292 (GRCm39) |
L3F |
probably benign |
Het |
| Man1c1 |
T |
A |
4: 134,291,843 (GRCm39) |
Q575L |
probably damaging |
Het |
| Panx1 |
A |
G |
9: 14,919,140 (GRCm39) |
S240P |
probably damaging |
Het |
| Phldb2 |
G |
A |
16: 45,571,819 (GRCm39) |
T1191I |
probably damaging |
Het |
| Plb1 |
G |
A |
5: 32,521,516 (GRCm39) |
E1456K |
unknown |
Het |
| Prtn3 |
A |
G |
10: 79,716,886 (GRCm39) |
T84A |
probably benign |
Het |
| R3hdm1 |
T |
C |
1: 128,163,369 (GRCm39) |
|
probably benign |
Het |
| Sirpa |
G |
A |
2: 129,451,103 (GRCm39) |
C121Y |
probably damaging |
Het |
| Slc9a3 |
C |
A |
13: 74,308,421 (GRCm39) |
H475N |
probably benign |
Het |
| Smgc |
A |
T |
15: 91,728,623 (GRCm39) |
D121V |
probably damaging |
Het |
| Spata16 |
A |
T |
3: 26,978,411 (GRCm39) |
E459V |
probably damaging |
Het |
| Sult2a4 |
T |
A |
7: 13,643,714 (GRCm39) |
E284D |
probably benign |
Het |
| Tbc1d32 |
A |
G |
10: 55,965,942 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
A |
C |
6: 12,554,933 (GRCm39) |
V317G |
probably damaging |
Het |
| Trh |
T |
C |
6: 92,219,770 (GRCm39) |
E182G |
probably benign |
Het |
| Tsc1 |
A |
G |
2: 28,562,478 (GRCm39) |
D368G |
possibly damaging |
Het |
| Ttc39d |
T |
G |
17: 80,523,955 (GRCm39) |
C205G |
probably damaging |
Het |
| Unc79 |
T |
G |
12: 103,108,149 (GRCm39) |
|
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,887,222 (GRCm39) |
D724E |
probably damaging |
Het |
| Zc3h14 |
T |
A |
12: 98,713,783 (GRCm39) |
|
probably null |
Het |
| Zfp507 |
G |
T |
7: 35,475,463 (GRCm39) |
H917N |
probably damaging |
Het |
|
| Other mutations in Glra3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation