Incidental Mutation 'R6036:Gria4'
ID |
479216 |
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 |
043257-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.690)
|
Stock # |
R6036 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
4417896-4796234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4537646 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 221
(I221L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129316
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027020]
[ENSMUST00000063508]
[ENSMUST00000163309]
[ENSMUST00000212533]
|
AlphaFold |
Q9Z2W8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027020
AA Change: I221L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027020 Gene: ENSMUSG00000025892 AA Change: I221L
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 benign
Transcript: ENSMUST00000063508
AA Change: I221L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000066980 Gene: ENSMUSG00000025892 AA Change: I221L
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 benign
Transcript: ENSMUST00000163309
AA Change: I221L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000129316 Gene: ENSMUSG00000025892 AA Change: I221L
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 benign
Transcript: ENSMUST00000212533
AA Change: I221L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.0%
- 10x: 92.6%
- 20x: 72.9%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3 |
T |
C |
11: 95,723,684 (GRCm39) |
|
probably benign |
Het |
Ago1 |
C |
T |
4: 126,337,021 (GRCm39) |
R228H |
probably damaging |
Het |
Alpk3 |
G |
A |
7: 80,743,005 (GRCm39) |
V941M |
probably benign |
Het |
Ano4 |
A |
G |
10: 88,818,127 (GRCm39) |
W588R |
possibly damaging |
Het |
Atp6v1a |
A |
G |
16: 43,919,194 (GRCm39) |
Y464H |
probably benign |
Het |
Barx2 |
A |
T |
9: 31,824,304 (GRCm39) |
D28E |
probably damaging |
Het |
Cabp5 |
A |
T |
7: 13,135,260 (GRCm39) |
M67L |
probably damaging |
Het |
Col10a1 |
A |
G |
10: 34,271,278 (GRCm39) |
T417A |
probably benign |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Eif4enif1 |
T |
C |
11: 3,189,420 (GRCm39) |
S227P |
probably damaging |
Het |
Erv3 |
G |
A |
2: 131,697,925 (GRCm39) |
H145Y |
possibly damaging |
Het |
Exoc5 |
T |
C |
14: 49,251,779 (GRCm39) |
T591A |
possibly damaging |
Het |
F5 |
A |
T |
1: 164,012,565 (GRCm39) |
E493V |
probably damaging |
Het |
Gm8444 |
G |
T |
15: 81,727,794 (GRCm39) |
|
probably benign |
Het |
H2bc13 |
A |
T |
13: 21,900,148 (GRCm39) |
S56T |
probably damaging |
Het |
Hc |
T |
C |
2: 34,929,696 (GRCm39) |
T249A |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,717,801 (GRCm39) |
T48A |
probably benign |
Het |
Hp |
A |
G |
8: 110,303,406 (GRCm39) |
|
probably null |
Het |
Ifna15 |
T |
G |
4: 88,476,310 (GRCm39) |
D58A |
possibly damaging |
Het |
Kcnj1 |
A |
T |
9: 32,308,421 (GRCm39) |
M262L |
probably benign |
Het |
Krt87 |
A |
C |
15: 101,385,412 (GRCm39) |
I320S |
possibly damaging |
Het |
Megf10 |
A |
G |
18: 57,375,799 (GRCm39) |
N242D |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,157,895 (GRCm39) |
T451A |
probably benign |
Het |
Or2ag2b |
A |
T |
7: 106,417,667 (GRCm39) |
I126F |
probably damaging |
Het |
Or4g7 |
T |
C |
2: 111,309,333 (GRCm39) |
L68P |
probably damaging |
Het |
Or4k35 |
C |
T |
2: 111,099,957 (GRCm39) |
G252R |
probably damaging |
Het |
Or51a25 |
T |
A |
7: 102,373,692 (GRCm39) |
I2F |
probably benign |
Het |
Or8d23 |
A |
G |
9: 38,842,216 (GRCm39) |
I250V |
probably damaging |
Het |
Pdzd8 |
G |
A |
19: 59,293,641 (GRCm39) |
P403S |
probably damaging |
Het |
Piezo2 |
G |
A |
18: 63,248,019 (GRCm39) |
Q494* |
probably null |
Het |
Plag1 |
T |
C |
4: 3,904,618 (GRCm39) |
E191G |
possibly damaging |
Het |
Pou4f2 |
A |
T |
8: 79,162,103 (GRCm39) |
S167T |
probably damaging |
Het |
Scd4 |
G |
A |
19: 44,333,231 (GRCm39) |
D319N |
probably damaging |
Het |
Senp2 |
A |
T |
16: 21,847,308 (GRCm39) |
R279* |
probably null |
Het |
Sh3rf3 |
G |
A |
10: 58,649,806 (GRCm39) |
G137D |
probably benign |
Het |
Simc1 |
C |
T |
13: 54,672,434 (GRCm39) |
P261S |
probably benign |
Het |
Slc26a1 |
T |
A |
5: 108,821,436 (GRCm39) |
D151V |
probably damaging |
Het |
Snx29 |
A |
G |
16: 11,556,301 (GRCm39) |
|
probably null |
Het |
Stard9 |
C |
T |
2: 120,530,556 (GRCm39) |
A2271V |
probably benign |
Het |
Stat6 |
A |
G |
10: 127,491,313 (GRCm39) |
N485D |
possibly damaging |
Het |
Tpcn2 |
T |
C |
7: 144,822,606 (GRCm39) |
T280A |
possibly damaging |
Het |
Ttc23 |
A |
G |
7: 67,361,114 (GRCm39) |
I378V |
possibly damaging |
Het |
Ttc29 |
A |
G |
8: 79,052,205 (GRCm39) |
D362G |
probably benign |
Het |
Ttll7 |
A |
G |
3: 146,645,917 (GRCm39) |
I592V |
probably benign |
Het |
Ugt3a1 |
A |
T |
15: 9,306,172 (GRCm39) |
H107L |
probably benign |
Het |
Vmn1r70 |
A |
G |
7: 10,367,830 (GRCm39) |
Q87R |
probably damaging |
Het |
Wdfy4 |
G |
T |
14: 32,868,947 (GRCm39) |
S360R |
probably damaging |
Het |
Zfp780b |
A |
G |
7: 27,662,993 (GRCm39) |
Y521H |
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 |
R1673:Gria4
|
UTSW |
9 |
4,537,637 (GRCm39) |
nonsense |
probably null |
|
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 |
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 |
|
Posted On |
2017-06-26 |