Incidental Mutation 'R3124:Glra3'
ID |
264200 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glra3
|
Ensembl Gene |
ENSMUSG00000038257 |
Gene Name |
glycine receptor, alpha 3 subunit |
Synonyms |
|
MMRRC Submission |
040597-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3124 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
56393495-56583105 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 56578244 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 434
(R434G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000275]
|
AlphaFold |
Q91XP5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000275
AA Change: R434G
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000000275 Gene: ENSMUSG00000038257 AA Change: R434G
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 |
|
Meta Mutation Damage Score |
0.0869 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (40/40) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16b |
G |
A |
2: 181,136,319 (GRCm39) |
R407H |
possibly damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Cadm1 |
A |
G |
9: 47,710,775 (GRCm39) |
E226G |
possibly damaging |
Het |
Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
Cd80 |
T |
A |
16: 38,294,255 (GRCm39) |
V46E |
probably damaging |
Het |
Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
Drd3 |
T |
C |
16: 43,643,155 (GRCm39) |
F464L |
probably damaging |
Het |
Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
Fam91a1 |
A |
G |
15: 58,293,738 (GRCm39) |
I101V |
probably benign |
Het |
Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
Iglc3 |
T |
C |
16: 18,884,345 (GRCm39) |
|
probably benign |
Het |
Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,518,774 (GRCm39) |
D1860G |
probably damaging |
Het |
Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
Myo1h |
A |
G |
5: 114,466,860 (GRCm39) |
I303V |
probably benign |
Het |
Nipsnap2 |
G |
A |
5: 129,825,098 (GRCm39) |
|
probably null |
Het |
Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Skil |
A |
G |
3: 31,151,487 (GRCm39) |
N3S |
probably benign |
Het |
Tas2r129 |
A |
G |
6: 132,928,411 (GRCm39) |
N116S |
probably damaging |
Het |
Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trim12a |
G |
T |
7: 103,950,063 (GRCm39) |
T292K |
probably benign |
Het |
Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
Trmt13 |
T |
C |
3: 116,383,893 (GRCm39) |
I104V |
probably benign |
Het |
Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
Vmn1r87 |
A |
G |
7: 12,865,493 (GRCm39) |
Y265H |
probably damaging |
Het |
Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
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 |
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 |
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'- CTGAAATCCTGTATCGCTCGC -3'
(R):5'- CCCACTCCTTTGTCAGGGAATC -3'
Sequencing Primer
(F):5'- TGTATCGCTCGCCGTTG -3'
(R):5'- CAGGGAATCTTTCTTCTGAATGC -3'
|
Posted On |
2015-02-05 |