Incidental Mutation 'IGL01772:Glra3'
| ID |
153694 |
| 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 # |
IGL01772
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
56393495-56583105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56542090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 278
(I278V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000275]
|
| AlphaFold |
Q91XP5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000275
AA Change: I278V
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000000275
Gene: ENSMUSG00000038257
AA Change: I278V
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
C |
T |
11: 58,313,710 (GRCm39) |
P113S |
probably benign |
Het |
| Ano2 |
T |
C |
6: 126,013,821 (GRCm39) |
Y881H |
probably damaging |
Het |
| Coro2b |
G |
T |
9: 62,333,090 (GRCm39) |
P131T |
probably damaging |
Het |
| Grin2d |
T |
C |
7: 45,507,890 (GRCm39) |
D392G |
probably benign |
Het |
| Ifrd2 |
A |
G |
9: 107,469,331 (GRCm39) |
S360G |
probably benign |
Het |
| Kdelr3 |
A |
T |
15: 79,407,121 (GRCm39) |
|
probably benign |
Het |
| Mtdh |
T |
A |
15: 34,140,027 (GRCm39) |
S345R |
probably damaging |
Het |
| Mtrex |
A |
G |
13: 113,027,859 (GRCm39) |
F667S |
probably benign |
Het |
| Ncor1 |
G |
A |
11: 62,240,173 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,281,075 (GRCm39) |
V110D |
probably damaging |
Het |
| Nlk |
T |
A |
11: 78,480,201 (GRCm39) |
H256L |
probably damaging |
Het |
| Or52w1 |
A |
T |
7: 105,017,641 (GRCm39) |
D36V |
probably benign |
Het |
| Or52z13 |
T |
A |
7: 103,247,120 (GRCm39) |
I199N |
probably benign |
Het |
| Or8c16 |
A |
T |
9: 38,130,905 (GRCm39) |
Y262F |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,946,637 (GRCm39) |
|
probably benign |
Het |
| Ptprn |
A |
G |
1: 75,228,914 (GRCm39) |
Y834H |
probably damaging |
Het |
| Rbfox3 |
G |
T |
11: 118,387,797 (GRCm39) |
A241E |
probably damaging |
Het |
| Tarbp1 |
G |
A |
8: 127,173,970 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,598,055 (GRCm39) |
D19619E |
probably damaging |
Het |
| Unc13d |
C |
A |
11: 115,967,358 (GRCm39) |
E45D |
possibly damaging |
Het |
| Vil1 |
A |
G |
1: 74,454,278 (GRCm39) |
I14V |
probably benign |
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 |
|
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 |
2014-02-04 |
Incidental Mutation