Incidental Mutation 'R1673:Gria4'
ID |
187815 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gria4
|
Ensembl Gene |
ENSMUSG00000025892 |
Gene Name |
glutamate receptor, ionotropic, AMPA4 (alpha 4) |
Synonyms |
Glur-4, spkw1, Gluralpha4, Glur4 |
MMRRC Submission |
039709-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.690)
|
Stock # |
R1673 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
4417896-4796234 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 4537637 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 224
(Q224*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148533
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027020]
[ENSMUST00000063508]
[ENSMUST00000163309]
[ENSMUST00000212533]
|
AlphaFold |
Q9Z2W8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027020
AA Change: Q224*
|
SMART Domains |
Protein: ENSMUSP00000027020 Gene: ENSMUSG00000025892 AA Change: Q224*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
39 |
380 |
3e-61 |
PFAM |
PBPe
|
416 |
791 |
8.23e-129 |
SMART |
Lig_chan-Glu_bd
|
426 |
491 |
3.4e-31 |
SMART |
low complexity region
|
821 |
833 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000063508
AA Change: Q224*
|
SMART Domains |
Protein: ENSMUSP00000066980 Gene: ENSMUSG00000025892 AA Change: Q224*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
39 |
380 |
2.5e-71 |
PFAM |
PBPe
|
416 |
791 |
2.06e-129 |
SMART |
Lig_chan-Glu_bd
|
426 |
491 |
3.4e-31 |
SMART |
low complexity region
|
821 |
833 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000163309
AA Change: Q224*
|
SMART Domains |
Protein: ENSMUSP00000129316 Gene: ENSMUSG00000025892 AA Change: Q224*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
39 |
380 |
3.2e-62 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000212533
AA Change: Q224*
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a targeted mutation display hyperactivity, decreased thermal nociception, and abnormal sensitivity to pharmacologically induced seizures. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca6 |
T |
C |
11: 110,103,165 (GRCm39) |
S809G |
probably benign |
Het |
Ap4b1 |
T |
A |
3: 103,725,161 (GRCm39) |
|
probably null |
Het |
Aqp12 |
A |
G |
1: 92,934,606 (GRCm39) |
Q161R |
possibly damaging |
Het |
Atp8a2 |
A |
G |
14: 60,028,689 (GRCm39) |
I926T |
probably benign |
Het |
Cacna2d1 |
A |
T |
5: 16,504,988 (GRCm39) |
N314I |
probably damaging |
Het |
Cd209d |
A |
G |
8: 3,927,113 (GRCm39) |
S81P |
probably damaging |
Het |
Cdcp1 |
T |
A |
9: 123,007,086 (GRCm39) |
K554* |
probably null |
Het |
Celsr1 |
A |
G |
15: 85,816,658 (GRCm39) |
Y1762H |
probably benign |
Het |
Cklf |
A |
G |
8: 104,983,983 (GRCm39) |
T49A |
possibly damaging |
Het |
Col12a1 |
T |
G |
9: 79,600,820 (GRCm39) |
I755L |
probably benign |
Het |
Cts3 |
G |
A |
13: 61,715,368 (GRCm39) |
Q140* |
probably null |
Het |
Ddx1 |
A |
T |
12: 13,294,967 (GRCm39) |
|
probably null |
Het |
Dnah3 |
C |
A |
7: 119,570,402 (GRCm39) |
E2262* |
probably null |
Het |
Dnah5 |
A |
G |
15: 28,290,294 (GRCm39) |
N1228S |
probably benign |
Het |
Dsg1a |
G |
A |
18: 20,464,561 (GRCm39) |
R352Q |
probably damaging |
Het |
Efcab5 |
A |
G |
11: 77,042,679 (GRCm39) |
F25L |
probably damaging |
Het |
Efhd1 |
T |
A |
1: 87,192,404 (GRCm39) |
V78D |
probably damaging |
Het |
Eif5a2 |
T |
C |
3: 28,847,967 (GRCm39) |
|
probably null |
Het |
Elp2 |
T |
A |
18: 24,744,983 (GRCm39) |
V101D |
possibly damaging |
Het |
Enpp2 |
A |
T |
15: 54,773,592 (GRCm39) |
|
probably null |
Het |
F5 |
A |
G |
1: 164,007,089 (GRCm39) |
T298A |
probably damaging |
Het |
Fbxo21 |
G |
T |
5: 118,146,129 (GRCm39) |
R584L |
probably benign |
Het |
Fbxw22 |
G |
T |
9: 109,211,196 (GRCm39) |
F368L |
possibly damaging |
Het |
Gcn1 |
T |
C |
5: 115,720,356 (GRCm39) |
I409T |
probably benign |
Het |
Gm12887 |
T |
C |
4: 121,473,655 (GRCm39) |
Y65C |
probably damaging |
Het |
Hdac5 |
C |
T |
11: 102,089,631 (GRCm39) |
V860M |
probably damaging |
Het |
Ino80 |
G |
A |
2: 119,212,417 (GRCm39) |
R1302C |
probably damaging |
Het |
Kcns2 |
A |
T |
15: 34,838,966 (GRCm39) |
I110F |
probably damaging |
Het |
Lrig3 |
A |
G |
10: 125,846,036 (GRCm39) |
T822A |
probably damaging |
Het |
Mapk6 |
T |
C |
9: 75,302,851 (GRCm39) |
D214G |
probably damaging |
Het |
Mcm2 |
A |
T |
6: 88,869,060 (GRCm39) |
L264Q |
probably benign |
Het |
Mpnd |
A |
T |
17: 56,317,455 (GRCm39) |
Y64F |
probably damaging |
Het |
Muc1 |
T |
A |
3: 89,139,079 (GRCm39) |
M520K |
possibly damaging |
Het |
Muc4 |
T |
A |
16: 32,577,276 (GRCm39) |
S189T |
probably benign |
Het |
Myh13 |
T |
C |
11: 67,242,945 (GRCm39) |
S953P |
possibly damaging |
Het |
Ncf2 |
A |
T |
1: 152,706,230 (GRCm39) |
M281L |
probably benign |
Het |
Nipal2 |
A |
G |
15: 34,648,841 (GRCm39) |
I116T |
probably damaging |
Het |
Nptn |
T |
C |
9: 58,531,015 (GRCm39) |
L46P |
probably benign |
Het |
Or2b6 |
A |
T |
13: 21,823,214 (GRCm39) |
S160T |
probably damaging |
Het |
Or4k77 |
A |
G |
2: 111,199,552 (GRCm39) |
T192A |
probably benign |
Het |
Or51ag1 |
C |
A |
7: 103,155,896 (GRCm39) |
V86F |
probably damaging |
Het |
Or5ae1 |
T |
A |
7: 84,565,325 (GRCm39) |
F113I |
probably damaging |
Het |
Pgr |
A |
T |
9: 8,902,069 (GRCm39) |
Y534F |
possibly damaging |
Het |
Pip4k2a |
A |
T |
2: 18,877,093 (GRCm39) |
|
probably null |
Het |
Pkd1l2 |
C |
G |
8: 117,767,514 (GRCm39) |
V1259L |
probably benign |
Het |
Ppp1r12a |
A |
G |
10: 108,085,426 (GRCm39) |
E457G |
probably damaging |
Het |
Rasa4 |
T |
A |
5: 136,133,491 (GRCm39) |
V650D |
probably benign |
Het |
Rem2 |
C |
T |
14: 54,713,766 (GRCm39) |
|
probably benign |
Het |
Rps18-ps6 |
A |
T |
13: 97,896,868 (GRCm39) |
Y77N |
possibly damaging |
Het |
Sdc1 |
G |
A |
12: 8,840,409 (GRCm39) |
R62Q |
possibly damaging |
Het |
Sdk1 |
A |
G |
5: 141,934,261 (GRCm39) |
E366G |
possibly damaging |
Het |
Setd2 |
T |
A |
9: 110,433,248 (GRCm39) |
H2406Q |
probably damaging |
Het |
Slc30a5 |
A |
G |
13: 100,949,891 (GRCm39) |
V397A |
probably benign |
Het |
Slc36a2 |
A |
T |
11: 55,075,739 (GRCm39) |
L16H |
possibly damaging |
Het |
Slc44a1 |
T |
C |
4: 53,542,468 (GRCm39) |
V334A |
probably benign |
Het |
Sox8 |
A |
T |
17: 25,786,456 (GRCm39) |
Y416N |
possibly damaging |
Het |
Speg |
T |
C |
1: 75,387,807 (GRCm39) |
V1416A |
possibly damaging |
Het |
Stimate |
T |
C |
14: 30,586,391 (GRCm39) |
L72S |
possibly damaging |
Het |
Stk24 |
T |
A |
14: 121,574,983 (GRCm39) |
I42F |
probably damaging |
Het |
Tasor2 |
A |
G |
13: 3,634,498 (GRCm39) |
|
probably null |
Het |
Tcerg1 |
T |
A |
18: 42,685,646 (GRCm39) |
L661Q |
possibly damaging |
Het |
Tpp1 |
G |
A |
7: 105,396,880 (GRCm39) |
R417W |
probably damaging |
Het |
Trim12a |
T |
A |
7: 103,955,264 (GRCm39) |
D153V |
possibly damaging |
Het |
Trpm2 |
T |
C |
10: 77,778,778 (GRCm39) |
N396S |
probably benign |
Het |
Ttn |
T |
C |
2: 76,637,427 (GRCm39) |
K5695R |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,640,631 (GRCm39) |
R11960C |
probably damaging |
Het |
Tulp3 |
A |
C |
6: 128,310,906 (GRCm39) |
|
probably null |
Het |
Uaca |
T |
A |
9: 60,779,438 (GRCm39) |
L1273H |
probably damaging |
Het |
Usp33 |
A |
G |
3: 152,073,919 (GRCm39) |
E255G |
probably damaging |
Het |
Vmn2r54 |
T |
G |
7: 12,350,138 (GRCm39) |
|
probably null |
Het |
Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
Wnt5b |
A |
T |
6: 119,423,315 (GRCm39) |
F116L |
probably benign |
Het |
Zbtb12 |
CTTCAT |
CTTCATTCAT |
17: 35,115,284 (GRCm39) |
|
probably null |
Het |
Zbtb12 |
TCATC |
TCATCCATC |
17: 35,115,286 (GRCm39) |
|
probably null |
Het |
Zfp408 |
G |
A |
2: 91,476,353 (GRCm39) |
T367I |
probably damaging |
Het |
Zfp512b |
G |
A |
2: 181,230,286 (GRCm39) |
A480V |
possibly damaging |
Het |
Zfp560 |
T |
C |
9: 20,258,949 (GRCm39) |
T638A |
probably benign |
Het |
Zfp932 |
G |
T |
5: 110,156,854 (GRCm39) |
G151V |
probably damaging |
Het |
Zpbp |
T |
C |
11: 11,302,696 (GRCm39) |
K320E |
probably damaging |
Het |
Zranb2 |
C |
T |
3: 157,243,277 (GRCm39) |
P91L |
probably damaging |
Het |
|
Other mutations in Gria4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00814:Gria4
|
APN |
9 |
4,472,202 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01451:Gria4
|
APN |
9 |
4,503,652 (GRCm39) |
missense |
probably benign |
0.04 |
IGL01533:Gria4
|
APN |
9 |
4,502,395 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01994:Gria4
|
APN |
9 |
4,537,726 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02078:Gria4
|
APN |
9 |
4,793,878 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02183:Gria4
|
APN |
9 |
4,502,460 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02351:Gria4
|
APN |
9 |
4,456,206 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02358:Gria4
|
APN |
9 |
4,456,206 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL03118:Gria4
|
APN |
9 |
4,793,804 (GRCm39) |
splice site |
probably benign |
|
IGL03131:Gria4
|
APN |
9 |
4,432,876 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03148:Gria4
|
APN |
9 |
4,464,295 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03264:Gria4
|
APN |
9 |
4,513,288 (GRCm39) |
missense |
probably benign |
|
PIT4812001:Gria4
|
UTSW |
9 |
4,427,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R0018:Gria4
|
UTSW |
9 |
4,432,843 (GRCm39) |
missense |
possibly damaging |
0.71 |
R0295:Gria4
|
UTSW |
9 |
4,793,840 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0654:Gria4
|
UTSW |
9 |
4,464,372 (GRCm39) |
missense |
probably benign |
0.32 |
R0690:Gria4
|
UTSW |
9 |
4,427,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R0992:Gria4
|
UTSW |
9 |
4,795,238 (GRCm39) |
missense |
probably benign |
|
R1517:Gria4
|
UTSW |
9 |
4,793,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R1713:Gria4
|
UTSW |
9 |
4,424,448 (GRCm39) |
missense |
probably benign |
0.20 |
R1961:Gria4
|
UTSW |
9 |
4,519,546 (GRCm39) |
splice site |
probably benign |
|
R2137:Gria4
|
UTSW |
9 |
4,427,026 (GRCm39) |
intron |
probably benign |
|
R2397:Gria4
|
UTSW |
9 |
4,537,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R2870:Gria4
|
UTSW |
9 |
4,503,614 (GRCm39) |
missense |
probably damaging |
0.96 |
R2870:Gria4
|
UTSW |
9 |
4,503,614 (GRCm39) |
missense |
probably damaging |
0.96 |
R3014:Gria4
|
UTSW |
9 |
4,464,294 (GRCm39) |
missense |
probably damaging |
0.97 |
R3412:Gria4
|
UTSW |
9 |
4,513,278 (GRCm39) |
missense |
probably benign |
0.00 |
R3732:Gria4
|
UTSW |
9 |
4,513,295 (GRCm39) |
missense |
probably benign |
|
R3732:Gria4
|
UTSW |
9 |
4,513,295 (GRCm39) |
missense |
probably benign |
|
R3733:Gria4
|
UTSW |
9 |
4,513,295 (GRCm39) |
missense |
probably benign |
|
R3897:Gria4
|
UTSW |
9 |
4,513,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R4404:Gria4
|
UTSW |
9 |
4,464,489 (GRCm39) |
splice site |
probably null |
|
R4457:Gria4
|
UTSW |
9 |
4,427,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R4672:Gria4
|
UTSW |
9 |
4,664,981 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4865:Gria4
|
UTSW |
9 |
4,464,295 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5092:Gria4
|
UTSW |
9 |
4,472,176 (GRCm39) |
missense |
probably benign |
0.01 |
R5109:Gria4
|
UTSW |
9 |
4,472,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R5202:Gria4
|
UTSW |
9 |
4,424,330 (GRCm39) |
missense |
probably benign |
0.10 |
R5828:Gria4
|
UTSW |
9 |
4,432,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R5945:Gria4
|
UTSW |
9 |
4,456,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R5985:Gria4
|
UTSW |
9 |
4,503,593 (GRCm39) |
missense |
probably damaging |
0.99 |
R6036:Gria4
|
UTSW |
9 |
4,537,646 (GRCm39) |
missense |
probably benign |
0.00 |
R6036:Gria4
|
UTSW |
9 |
4,537,646 (GRCm39) |
missense |
probably benign |
0.00 |
R6111:Gria4
|
UTSW |
9 |
4,502,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R6190:Gria4
|
UTSW |
9 |
4,420,199 (GRCm39) |
missense |
probably benign |
|
R6280:Gria4
|
UTSW |
9 |
4,456,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R6406:Gria4
|
UTSW |
9 |
4,427,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R6470:Gria4
|
UTSW |
9 |
4,503,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R6485:Gria4
|
UTSW |
9 |
4,464,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R6612:Gria4
|
UTSW |
9 |
4,472,206 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6848:Gria4
|
UTSW |
9 |
4,793,822 (GRCm39) |
missense |
probably damaging |
1.00 |
R7046:Gria4
|
UTSW |
9 |
4,420,278 (GRCm39) |
missense |
probably damaging |
0.97 |
R7210:Gria4
|
UTSW |
9 |
4,464,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R7284:Gria4
|
UTSW |
9 |
4,472,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R7475:Gria4
|
UTSW |
9 |
4,513,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R7501:Gria4
|
UTSW |
9 |
4,502,436 (GRCm39) |
missense |
probably benign |
0.01 |
R7536:Gria4
|
UTSW |
9 |
4,464,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R7604:Gria4
|
UTSW |
9 |
4,464,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R7643:Gria4
|
UTSW |
9 |
4,793,950 (GRCm39) |
missense |
probably benign |
0.00 |
R7669:Gria4
|
UTSW |
9 |
4,462,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R7703:Gria4
|
UTSW |
9 |
4,503,588 (GRCm39) |
missense |
probably benign |
|
R7720:Gria4
|
UTSW |
9 |
4,464,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R7724:Gria4
|
UTSW |
9 |
4,472,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R7909:Gria4
|
UTSW |
9 |
4,464,450 (GRCm39) |
missense |
probably damaging |
1.00 |
R8007:Gria4
|
UTSW |
9 |
4,503,740 (GRCm39) |
splice site |
probably benign |
|
R8044:Gria4
|
UTSW |
9 |
4,456,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R8062:Gria4
|
UTSW |
9 |
4,480,273 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8131:Gria4
|
UTSW |
9 |
4,502,429 (GRCm39) |
missense |
probably benign |
0.16 |
R8212:Gria4
|
UTSW |
9 |
4,480,242 (GRCm39) |
missense |
probably benign |
|
R8478:Gria4
|
UTSW |
9 |
4,793,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R8699:Gria4
|
UTSW |
9 |
4,424,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R8699:Gria4
|
UTSW |
9 |
4,424,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R8785:Gria4
|
UTSW |
9 |
4,795,189 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8785:Gria4
|
UTSW |
9 |
4,456,106 (GRCm39) |
missense |
probably damaging |
1.00 |
R8888:Gria4
|
UTSW |
9 |
4,664,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R8895:Gria4
|
UTSW |
9 |
4,664,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R9160:Gria4
|
UTSW |
9 |
4,424,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R9498:Gria4
|
UTSW |
9 |
4,503,560 (GRCm39) |
critical splice donor site |
probably null |
|
R9743:Gria4
|
UTSW |
9 |
4,464,457 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Gria4
|
UTSW |
9 |
4,427,067 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Gria4
|
UTSW |
9 |
4,464,340 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGGTGACTAAGCAAATGCTCTTC -3'
(R):5'- ATTGACCACAGGTAGTGATGCAGTG -3'
Sequencing Primer
(F):5'- GACTAAGCAAATGCTCTTCTACTGC -3'
(R):5'- GTGACAGCTTCATCCAATAAGTAGC -3'
|
Posted On |
2014-05-09 |