Incidental Mutation 'IGL03094:Glra3'
| ID |
418493 |
| 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 # |
IGL03094
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
56393495-56583105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 56578207 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 421
(H421Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000275]
|
| AlphaFold |
Q91XP5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000275
AA Change: H421Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000000275
Gene: ENSMUSG00000038257
AA Change: H421Q
| 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 |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,074,938 (GRCm39) |
N1375S |
probably benign |
Het |
| Adamts15 |
A |
T |
9: 30,815,768 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
G |
A |
19: 8,980,911 (GRCm39) |
V732M |
possibly damaging |
Het |
| Akr1c19 |
G |
A |
13: 4,286,184 (GRCm39) |
V61I |
probably benign |
Het |
| BC025920 |
C |
A |
10: 81,444,906 (GRCm39) |
R10S |
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,385,035 (GRCm39) |
I347V |
probably benign |
Het |
| Cyp11b2 |
A |
G |
15: 74,724,886 (GRCm39) |
|
probably null |
Het |
| Cyp4a31 |
T |
A |
4: 115,435,305 (GRCm39) |
|
probably benign |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Gtf2f1 |
T |
C |
17: 57,314,049 (GRCm39) |
N145S |
probably damaging |
Het |
| Hsd17b12 |
A |
T |
2: 93,864,339 (GRCm39) |
V256E |
probably damaging |
Het |
| Ighv1-34 |
C |
T |
12: 114,814,958 (GRCm39) |
G68E |
probably damaging |
Het |
| Ipo5 |
T |
C |
14: 121,181,089 (GRCm39) |
|
probably benign |
Het |
| Knop1 |
T |
A |
7: 118,452,374 (GRCm39) |
D63V |
possibly damaging |
Het |
| Krt39 |
T |
C |
11: 99,411,628 (GRCm39) |
|
probably benign |
Het |
| Ldhb |
T |
C |
6: 142,451,253 (GRCm39) |
K5R |
probably benign |
Het |
| Loxhd1 |
A |
T |
18: 77,518,809 (GRCm39) |
I1872F |
possibly damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,886,532 (GRCm39) |
N107D |
probably benign |
Het |
| Mks1 |
A |
G |
11: 87,746,291 (GRCm39) |
|
probably benign |
Het |
| Nup93 |
C |
T |
8: 95,023,130 (GRCm39) |
T236I |
probably benign |
Het |
| Olig3 |
T |
C |
10: 19,232,878 (GRCm39) |
S168P |
probably benign |
Het |
| Or1i2 |
A |
G |
10: 78,447,953 (GRCm39) |
I174T |
possibly damaging |
Het |
| Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
| Per3 |
A |
C |
4: 151,093,755 (GRCm39) |
I1020R |
probably damaging |
Het |
| Plbd2 |
T |
C |
5: 120,624,845 (GRCm39) |
N441S |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,075,519 (GRCm39) |
S398P |
probably damaging |
Het |
| Ppm1m |
T |
G |
9: 106,073,610 (GRCm39) |
K314T |
probably damaging |
Het |
| Prmt2 |
T |
A |
10: 76,046,224 (GRCm39) |
|
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,261,023 (GRCm39) |
S216P |
probably damaging |
Het |
| Sart1 |
A |
G |
19: 5,434,109 (GRCm39) |
|
probably benign |
Het |
| Tmem225 |
A |
T |
9: 40,059,682 (GRCm39) |
I21L |
possibly damaging |
Het |
| Tnnt2 |
T |
C |
1: 135,777,200 (GRCm39) |
|
probably null |
Het |
| Trappc10 |
A |
T |
10: 78,064,754 (GRCm39) |
|
probably benign |
Het |
| Trip13 |
A |
G |
13: 74,081,075 (GRCm39) |
L97P |
probably benign |
Het |
| Zmat2 |
T |
G |
18: 36,929,119 (GRCm39) |
V89G |
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 |
|
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 |
2016-08-02 |
Incidental Mutation