Incidental Mutation 'R1138:Glra3'
| ID |
95294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glra3
|
| Ensembl Gene |
ENSMUSG00000038257 |
| Gene Name |
glycine receptor, alpha 3 subunit |
| Synonyms |
|
| MMRRC Submission |
039211-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1138 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
56393495-56583105 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 56542011 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 null
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: 99.0%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| 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 |
|---|
| Abca4 |
T |
A |
3: 121,967,497 (GRCm39) |
N974K |
probably benign |
Het |
| Brd8dc |
C |
T |
18: 34,713,297 (GRCm39) |
V258I |
probably benign |
Het |
| Bub1b |
C |
T |
2: 118,453,570 (GRCm39) |
T467I |
probably benign |
Het |
| Bzw1 |
T |
C |
1: 58,440,545 (GRCm39) |
Y173H |
probably damaging |
Het |
| Chl1 |
A |
G |
6: 103,670,140 (GRCm39) |
D526G |
probably benign |
Het |
| Dnajc22 |
AGACACT |
A |
15: 99,002,308 (GRCm39) |
|
probably benign |
Het |
| Dstyk |
A |
G |
1: 132,391,224 (GRCm39) |
N920S |
probably benign |
Het |
| Hpgd |
G |
A |
8: 56,760,712 (GRCm39) |
M136I |
probably benign |
Het |
| Igfbp2 |
A |
G |
1: 72,888,257 (GRCm39) |
D133G |
probably damaging |
Het |
| Lin54 |
A |
G |
5: 100,591,993 (GRCm39) |
M642T |
probably damaging |
Het |
| Map7d1 |
T |
C |
4: 126,135,912 (GRCm39) |
T99A |
possibly damaging |
Het |
| Mfsd4b5 |
C |
T |
10: 39,851,150 (GRCm39) |
C35Y |
probably damaging |
Het |
| Mycbp2 |
G |
T |
14: 103,412,262 (GRCm39) |
N2570K |
possibly damaging |
Het |
| Nr4a2 |
T |
C |
2: 57,002,391 (GRCm39) |
S21G |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,858,521 (GRCm39) |
L209Q |
probably damaging |
Het |
| Or4c125 |
T |
C |
2: 89,170,434 (GRCm39) |
I71V |
probably benign |
Het |
| Pkd1 |
C |
A |
17: 24,805,006 (GRCm39) |
N3218K |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,761,234 (GRCm39) |
N46S |
possibly damaging |
Het |
| Sh2d3c |
G |
T |
2: 32,639,417 (GRCm39) |
R349L |
probably benign |
Het |
| Siae |
G |
A |
9: 37,553,988 (GRCm39) |
R366H |
probably damaging |
Het |
| Tmem108 |
T |
C |
9: 103,376,168 (GRCm39) |
N427S |
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 |
|
|
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 |
|
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 |
PCR Primer
(F):5'- TCAGAAGACTCCATTCCCTTGGGAC -3'
(R):5'- CACGTCATTTTGCAATGTTTGGTGC -3'
Sequencing Primer
(F):5'- GGACATTGTTTCTAGATGCACAG -3'
(R):5'- TACCTTTGGTAAGGAGGCCC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation