Incidental Mutation 'R4593:Glra3'
| ID |
344216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glra3
|
| Ensembl Gene |
ENSMUSG00000038257 |
| Gene Name |
glycine receptor, alpha 3 subunit |
| Synonyms |
|
| MMRRC Submission |
041809-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4593 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
56393495-56583105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 56393916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 9
(G9V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000275]
|
| AlphaFold |
Q91XP5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000275
AA Change: G9V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000000275
Gene: ENSMUSG00000038257
AA Change: G9V
| 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
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (45/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Aopep |
T |
C |
13: 63,215,906 (GRCm39) |
S393P |
probably benign |
Het |
| Atm |
G |
T |
9: 53,364,894 (GRCm39) |
A8E |
possibly damaging |
Het |
| Atxn3 |
A |
T |
12: 101,889,436 (GRCm39) |
M333K |
probably benign |
Het |
| Cd86 |
A |
G |
16: 36,426,918 (GRCm39) |
*310R |
probably null |
Het |
| Cyp2s1 |
ACAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAG |
7: 25,515,867 (GRCm39) |
|
probably benign |
Het |
| Dgat1 |
C |
A |
15: 76,388,889 (GRCm39) |
R111S |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,673,449 (GRCm39) |
M1V |
probably null |
Het |
| Dnhd1 |
G |
A |
7: 105,364,653 (GRCm39) |
D4240N |
probably benign |
Het |
| Emp3 |
A |
G |
7: 45,568,777 (GRCm39) |
L27P |
probably damaging |
Het |
| Gpr149 |
A |
T |
3: 62,510,151 (GRCm39) |
|
probably benign |
Het |
| Ighv1-9 |
T |
C |
12: 114,547,224 (GRCm39) |
T105A |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Ldhd |
T |
C |
8: 112,355,996 (GRCm39) |
D129G |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,799,289 (GRCm39) |
V122A |
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,389,795 (GRCm39) |
Y1877H |
possibly damaging |
Het |
| Med13l |
T |
C |
5: 118,880,625 (GRCm39) |
L1239P |
probably damaging |
Het |
| Mib1 |
T |
C |
18: 10,768,191 (GRCm39) |
L480S |
possibly damaging |
Het |
| Mkrn3 |
C |
T |
7: 62,068,552 (GRCm39) |
W413* |
probably null |
Het |
| Myo7b |
A |
G |
18: 32,146,428 (GRCm39) |
V119A |
possibly damaging |
Het |
| Nexn |
T |
A |
3: 151,958,553 (GRCm39) |
R113S |
probably damaging |
Het |
| Npas3 |
A |
T |
12: 54,115,280 (GRCm39) |
Q703L |
probably benign |
Het |
| Npr2 |
A |
G |
4: 43,647,323 (GRCm39) |
|
probably benign |
Het |
| Nub1 |
A |
G |
5: 24,914,119 (GRCm39) |
Y624C |
probably damaging |
Het |
| Obscn |
A |
C |
11: 59,024,075 (GRCm39) |
S532A |
probably damaging |
Het |
| Or1e33 |
T |
A |
11: 73,738,140 (GRCm39) |
K270N |
probably benign |
Het |
| Or9g20 |
A |
G |
2: 85,630,008 (GRCm39) |
L202P |
probably damaging |
Het |
| Panx2 |
T |
C |
15: 88,952,118 (GRCm39) |
I195T |
probably damaging |
Het |
| Parp11 |
T |
C |
6: 127,451,262 (GRCm39) |
I104T |
probably benign |
Het |
| Pkd1l1 |
G |
T |
11: 8,851,253 (GRCm39) |
D726E |
probably damaging |
Het |
| Pom121l2 |
C |
T |
13: 22,168,623 (GRCm39) |
R965W |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,525,101 (GRCm39) |
K502E |
probably damaging |
Het |
| Rasa1 |
T |
C |
13: 85,386,340 (GRCm39) |
|
probably null |
Het |
| Sva |
T |
C |
6: 42,019,592 (GRCm39) |
S151P |
possibly damaging |
Het |
| Svep1 |
T |
C |
4: 58,091,944 (GRCm39) |
N1564D |
possibly damaging |
Het |
| Unk |
T |
C |
11: 115,939,882 (GRCm39) |
I129T |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,584,332 (GRCm39) |
D550G |
probably damaging |
Het |
| Vmn1r194 |
T |
A |
13: 22,428,461 (GRCm39) |
M26K |
possibly damaging |
Het |
| Vmn1r59 |
A |
T |
7: 5,457,686 (GRCm39) |
F25I |
possibly damaging |
Het |
| Vmn1r88 |
A |
G |
7: 12,911,769 (GRCm39) |
K42E |
probably damaging |
Het |
| Zbtb24 |
A |
G |
10: 41,327,953 (GRCm39) |
R280G |
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 |
|
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 |
|
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'- ATCACTCGCATATCTGTAGCCC -3'
(R):5'- AGCTTCCTCATTAACAAGTGGTTG -3'
Sequencing Primer
(F):5'- GCATATCTGTAGCCCTGTGAATC -3'
(R):5'- CAAGTGGTTGCAGATTAACACATTGG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation