Incidental Mutation 'R7536:Gria4'
ID |
583601 |
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 |
045608-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.690)
|
Stock # |
R7536 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
4417896-4796234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 4464298 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Aspartic acid
at position 555
(Y555D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066980
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027020]
[ENSMUST00000063508]
[ENSMUST00000212533]
|
AlphaFold |
Q9Z2W8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027020
AA Change: Y555D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027020 Gene: ENSMUSG00000025892 AA Change: Y555D
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 damaging
Transcript: ENSMUST00000063508
AA Change: Y555D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000066980 Gene: ENSMUSG00000025892 AA Change: Y555D
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 damaging
Transcript: ENSMUST00000212533
AA Change: Y555D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
AI597479 |
C |
G |
1: 43,150,505 (GRCm39) |
A205G |
possibly damaging |
Het |
Akr1c14 |
T |
A |
13: 4,113,690 (GRCm39) |
V74E |
probably damaging |
Het |
Armh4 |
G |
T |
14: 50,011,703 (GRCm39) |
|
probably null |
Het |
Bbs9 |
A |
T |
9: 22,582,096 (GRCm39) |
Q596L |
probably damaging |
Het |
Bub3 |
A |
G |
7: 131,170,432 (GRCm39) |
D318G |
probably damaging |
Het |
Cela1 |
A |
G |
15: 100,573,245 (GRCm39) |
V248A |
probably damaging |
Het |
Cer1 |
C |
A |
4: 82,803,205 (GRCm39) |
R39L |
probably benign |
Het |
Clec16a |
A |
G |
16: 10,456,708 (GRCm39) |
T624A |
possibly damaging |
Het |
Coro1c |
C |
A |
5: 113,983,350 (GRCm39) |
G393W |
probably damaging |
Het |
Crym |
A |
G |
7: 119,800,331 (GRCm39) |
L97P |
probably damaging |
Het |
Cyp2a5 |
T |
G |
7: 26,539,903 (GRCm39) |
L317R |
probably damaging |
Het |
Cyp2j6 |
C |
A |
4: 96,423,774 (GRCm39) |
G198V |
probably damaging |
Het |
Dnajb6 |
A |
G |
5: 29,962,804 (GRCm39) |
E238G |
possibly damaging |
Het |
Dnhd1 |
C |
A |
7: 105,358,768 (GRCm39) |
T3419K |
probably damaging |
Het |
Dpep3 |
A |
T |
8: 106,704,032 (GRCm39) |
I262K |
probably damaging |
Het |
Dscam |
T |
G |
16: 96,442,226 (GRCm39) |
|
probably null |
Het |
Farsb |
A |
G |
1: 78,420,391 (GRCm39) |
V500A |
possibly damaging |
Het |
Fbxl20 |
A |
T |
11: 97,986,209 (GRCm39) |
C136* |
probably null |
Het |
Fbxo43 |
G |
T |
15: 36,161,997 (GRCm39) |
D403E |
probably benign |
Het |
Frem1 |
A |
G |
4: 82,874,432 (GRCm39) |
S1397P |
probably damaging |
Het |
Fut8 |
A |
G |
12: 77,521,852 (GRCm39) |
Y497C |
probably damaging |
Het |
Gbp3 |
A |
T |
3: 142,272,156 (GRCm39) |
R219S |
probably damaging |
Het |
Gm14295 |
T |
A |
2: 176,502,722 (GRCm39) |
H737Q |
possibly damaging |
Het |
Gpr89 |
C |
A |
3: 96,798,209 (GRCm39) |
R149L |
probably damaging |
Het |
Greb1 |
A |
T |
12: 16,732,186 (GRCm39) |
Y1592N |
probably damaging |
Het |
Hspa1b |
T |
A |
17: 35,177,851 (GRCm39) |
T45S |
possibly damaging |
Het |
Kif5b |
A |
T |
18: 6,216,235 (GRCm39) |
N571K |
probably benign |
Het |
Mapkbp1 |
T |
A |
2: 119,849,066 (GRCm39) |
M694K |
probably damaging |
Het |
Med24 |
G |
A |
11: 98,603,447 (GRCm39) |
H439Y |
possibly damaging |
Het |
Mgl2 |
G |
T |
11: 70,027,833 (GRCm39) |
R347L |
probably benign |
Het |
Mms22l |
T |
A |
4: 24,581,240 (GRCm39) |
L850Q |
probably damaging |
Het |
Mrpl51 |
T |
C |
6: 125,169,530 (GRCm39) |
V44A |
possibly damaging |
Het |
Mylk3 |
T |
C |
8: 86,080,233 (GRCm39) |
I485V |
probably benign |
Het |
Or10ag54 |
C |
T |
2: 87,099,943 (GRCm39) |
Q273* |
probably null |
Het |
Or7e174 |
C |
A |
9: 20,012,826 (GRCm39) |
T257K |
probably damaging |
Het |
Pde4dip |
A |
G |
3: 97,664,560 (GRCm39) |
L434P |
probably damaging |
Het |
Pla2g4a |
T |
C |
1: 149,755,768 (GRCm39) |
Y223C |
probably damaging |
Het |
Plcl1 |
C |
T |
1: 55,752,640 (GRCm39) |
Q995* |
probably null |
Het |
Pls1 |
C |
T |
9: 95,644,110 (GRCm39) |
C462Y |
probably damaging |
Het |
Ppp6r3 |
T |
C |
19: 3,557,341 (GRCm39) |
E249G |
possibly damaging |
Het |
Prb1a |
T |
A |
6: 132,184,184 (GRCm39) |
N483I |
unknown |
Het |
R3hdm1 |
A |
G |
1: 128,109,948 (GRCm39) |
|
probably null |
Het |
Rasgrp3 |
T |
C |
17: 75,821,128 (GRCm39) |
F445S |
probably damaging |
Het |
Rnf39 |
G |
T |
17: 37,254,009 (GRCm39) |
L10F |
probably damaging |
Het |
Rnh1 |
T |
C |
7: 140,740,725 (GRCm39) |
D410G |
possibly damaging |
Het |
Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
Sh3bp2 |
A |
G |
5: 34,700,901 (GRCm39) |
T35A |
probably benign |
Het |
Skint6 |
T |
A |
4: 112,668,744 (GRCm39) |
|
probably null |
Het |
Slc13a1 |
A |
T |
6: 24,100,330 (GRCm39) |
D384E |
probably damaging |
Het |
Slc27a6 |
A |
G |
18: 58,689,698 (GRCm39) |
T55A |
probably damaging |
Het |
Slc46a2 |
G |
A |
4: 59,914,141 (GRCm39) |
Q261* |
probably null |
Het |
Spata31d1e |
C |
T |
13: 59,889,556 (GRCm39) |
V755M |
probably damaging |
Het |
St7 |
C |
G |
6: 17,886,019 (GRCm39) |
P327R |
probably damaging |
Het |
Stx1a |
T |
C |
5: 135,078,694 (GRCm39) |
I268T |
probably damaging |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Tgm7 |
T |
A |
2: 120,926,878 (GRCm39) |
R424* |
probably null |
Het |
Tmem144 |
A |
T |
3: 79,734,964 (GRCm39) |
N151K |
probably benign |
Het |
Tmem145 |
T |
C |
7: 25,007,294 (GRCm39) |
S171P |
probably damaging |
Het |
Traf2 |
A |
G |
2: 25,427,118 (GRCm39) |
Y78H |
possibly damaging |
Het |
Tsc22d1 |
A |
G |
14: 76,742,203 (GRCm39) |
Y16C |
probably benign |
Het |
Ttc39b |
A |
T |
4: 83,158,215 (GRCm39) |
Y503* |
probably null |
Het |
Ttn |
T |
C |
2: 76,547,681 (GRCm39) |
D32163G |
probably benign |
Het |
Uba6 |
A |
T |
5: 86,272,191 (GRCm39) |
S833T |
probably benign |
Het |
Wdtc1 |
A |
G |
4: 133,022,561 (GRCm39) |
L595P |
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 |
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 |
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'- ACATCCTTGTTGCATAAAGGCAC -3'
(R):5'- GAAATCCACTAACTTGTGTATTCCC -3'
Sequencing Primer
(F):5'- CTTGTTGCATAAAGGCACCCAGG -3'
(R):5'- TTCTCTTGTAGAAAGCAGAGATTGCC -3'
|
Posted On |
2019-10-17 |