Incidental Mutation 'R9801:Glra3'
ID |
735211 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glra3
|
Ensembl Gene |
ENSMUSG00000038257 |
Gene Name |
glycine receptor, alpha 3 subunit |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9801 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
56393495-56583105 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 56563563 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 353
(V353M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000275
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000275]
|
AlphaFold |
Q91XP5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000275
AA Change: V353M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000275 Gene: ENSMUSG00000038257 AA Change: V353M
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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
T |
12: 72,945,540 (GRCm39) |
N330K |
probably benign |
Het |
4933402J07Rik |
A |
G |
8: 88,290,717 (GRCm39) |
E25G |
probably damaging |
Het |
Acss3 |
T |
C |
10: 106,881,091 (GRCm39) |
T297A |
possibly damaging |
Het |
Anks1 |
A |
G |
17: 28,227,033 (GRCm39) |
E562G |
possibly damaging |
Het |
Atg12 |
T |
C |
18: 46,874,460 (GRCm39) |
T52A |
probably benign |
Het |
Bbox1 |
T |
A |
2: 110,100,418 (GRCm39) |
T260S |
probably benign |
Het |
Btbd3 |
C |
T |
2: 138,122,368 (GRCm39) |
R173* |
probably null |
Het |
Cbr1 |
A |
C |
16: 93,406,687 (GRCm39) |
R134S |
probably damaging |
Het |
Cdcp2 |
A |
T |
4: 106,964,262 (GRCm39) |
I371F |
possibly damaging |
Het |
Cntrob |
T |
C |
11: 69,212,233 (GRCm39) |
E124G |
possibly damaging |
Het |
Cstf3 |
T |
C |
2: 104,421,024 (GRCm39) |
S2P |
possibly damaging |
Het |
Ctbs |
T |
C |
3: 146,169,679 (GRCm39) |
V312A |
probably damaging |
Het |
Cylc2 |
T |
A |
4: 51,228,466 (GRCm39) |
V179E |
probably null |
Het |
Dip2c |
T |
C |
13: 9,626,936 (GRCm39) |
L658P |
probably damaging |
Het |
Dus4l |
A |
G |
12: 31,698,827 (GRCm39) |
I59T |
probably damaging |
Het |
Extl3 |
A |
T |
14: 65,314,782 (GRCm39) |
N133K |
probably benign |
Het |
Fam83d |
T |
A |
2: 158,610,310 (GRCm39) |
C93S |
probably damaging |
Het |
Galr1 |
T |
C |
18: 82,423,912 (GRCm39) |
S122G |
possibly damaging |
Het |
H2-M10.4 |
A |
T |
17: 36,771,511 (GRCm39) |
N222K |
probably damaging |
Het |
Klra7 |
C |
T |
6: 130,205,477 (GRCm39) |
|
probably null |
Het |
Lyst |
T |
A |
13: 13,809,290 (GRCm39) |
V320E |
probably damaging |
Het |
Me3 |
A |
C |
7: 89,435,657 (GRCm39) |
D164A |
probably damaging |
Het |
Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
Nbr1 |
C |
A |
11: 101,447,025 (GRCm39) |
Q4K |
probably damaging |
Het |
Nr1i3 |
T |
C |
1: 171,045,252 (GRCm39) |
L300P |
probably damaging |
Het |
Pemt |
T |
A |
11: 59,874,287 (GRCm39) |
N101I |
probably damaging |
Het |
Pkd1l1 |
C |
A |
11: 8,908,964 (GRCm39) |
E347* |
probably null |
Het |
Plxna4 |
C |
T |
6: 32,140,526 (GRCm39) |
|
probably null |
Het |
Polq |
C |
T |
16: 36,913,190 (GRCm39) |
R2420C |
probably damaging |
Het |
Psg22 |
T |
C |
7: 18,456,899 (GRCm39) |
Y261H |
probably benign |
Het |
Pum1 |
C |
T |
4: 130,481,328 (GRCm39) |
S722L |
probably benign |
Het |
Rbl2 |
T |
C |
8: 91,822,229 (GRCm39) |
Y464H |
probably benign |
Het |
Rnf145 |
T |
A |
11: 44,448,112 (GRCm39) |
I323N |
probably damaging |
Het |
Rxylt1 |
T |
A |
10: 121,926,608 (GRCm39) |
N168I |
probably damaging |
Het |
Scgb2b7 |
A |
T |
7: 31,404,580 (GRCm39) |
V40E |
probably damaging |
Het |
Slmap |
G |
A |
14: 26,143,595 (GRCm39) |
A764V |
probably damaging |
Het |
Smarca4 |
G |
T |
9: 21,586,397 (GRCm39) |
L1139F |
probably damaging |
Het |
Svil |
A |
G |
18: 5,049,062 (GRCm39) |
E113G |
probably damaging |
Het |
Taf4b |
T |
C |
18: 14,932,235 (GRCm39) |
S196P |
probably benign |
Het |
Tcp10b |
A |
G |
17: 13,281,867 (GRCm39) |
E79G |
possibly damaging |
Het |
Tet3 |
T |
A |
6: 83,346,436 (GRCm39) |
N1334Y |
possibly damaging |
Het |
Tll2 |
A |
G |
19: 41,194,993 (GRCm39) |
V31A |
probably benign |
Het |
Trappc10 |
A |
G |
10: 78,045,263 (GRCm39) |
I475T |
probably benign |
Het |
Uba3 |
T |
A |
6: 97,162,635 (GRCm39) |
D387V |
probably benign |
Het |
Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
Zfp260 |
T |
C |
7: 29,804,937 (GRCm39) |
I279T |
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 |
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 |
Z1176:Glra3
|
UTSW |
8 |
56,515,535 (GRCm39) |
missense |
probably benign |
0.12 |
|
Predicted Primers |
PCR Primer
(F):5'- AACGACCCCTTTGTTATTTGTG -3'
(R):5'- GGTTATTACTTCATTTAGTCCCTGG -3'
Sequencing Primer
(F):5'- TTGTGTCCCCTTAATAAAGTTTCAG -3'
(R):5'- AGTCCCTGGTCCAAATTTCC -3'
|
Posted On |
2022-11-14 |