Incidental Mutation 'R8699:Gria4'
| ID |
668940 |
| 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 |
068553-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.690)
|
| Stock # |
R8699 (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 G
at 4424351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Serine
at position 838
(Y838S)
|
| 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: Y838S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: Y838S
| 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: Y838S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: Y838S
| 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: Y838S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
C |
4: 62,450,515 (GRCm39) |
W30R |
probably damaging |
Het |
| Abca3 |
A |
G |
17: 24,627,199 (GRCm39) |
D1555G |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,483,373 (GRCm39) |
T1241A |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,243,519 (GRCm39) |
V881I |
probably benign |
Het |
| Appl1 |
G |
A |
14: 26,662,212 (GRCm39) |
S490L |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,567,664 (GRCm39) |
T81A |
probably benign |
Het |
| Bclaf1 |
T |
C |
10: 20,209,184 (GRCm39) |
S754P |
possibly damaging |
Het |
| Bicra |
G |
T |
7: 15,723,113 (GRCm39) |
Q135K |
probably benign |
Het |
| Cad |
T |
C |
5: 31,233,605 (GRCm39) |
V1951A |
possibly damaging |
Het |
| Cadm3 |
T |
A |
1: 173,168,683 (GRCm39) |
Y295F |
probably damaging |
Het |
| Ccnt1 |
A |
G |
15: 98,462,995 (GRCm39) |
I59T |
probably damaging |
Het |
| Ccr6 |
C |
T |
17: 8,475,398 (GRCm39) |
T201M |
probably benign |
Het |
| Cd5 |
A |
G |
19: 10,702,556 (GRCm39) |
F209S |
possibly damaging |
Het |
| Cep126 |
A |
C |
9: 8,087,362 (GRCm39) |
D1017E |
probably damaging |
Het |
| Cfap298 |
T |
C |
16: 90,727,945 (GRCm39) |
K82E |
probably benign |
Het |
| Cntnap4 |
A |
T |
8: 113,484,228 (GRCm39) |
D427V |
probably damaging |
Het |
| Col4a4 |
T |
A |
1: 82,433,455 (GRCm39) |
N1496I |
unknown |
Het |
| Crybg3 |
A |
G |
16: 59,375,291 (GRCm39) |
Y274H |
probably damaging |
Het |
| Cubn |
C |
A |
2: 13,388,770 (GRCm39) |
S1479I |
probably damaging |
Het |
| Diras2 |
A |
T |
13: 52,662,143 (GRCm39) |
C55S |
probably damaging |
Het |
| Dleu7 |
G |
A |
14: 62,530,279 (GRCm39) |
R41C |
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,171,321 (GRCm39) |
T972A |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,672,072 (GRCm39) |
T1464A |
probably benign |
Het |
| Exo5 |
A |
G |
4: 120,779,193 (GRCm39) |
I224T |
probably damaging |
Het |
| Fcho1 |
T |
C |
8: 72,162,277 (GRCm39) |
I774V |
possibly damaging |
Het |
| Gclm |
T |
G |
3: 122,059,972 (GRCm39) |
S251A |
possibly damaging |
Het |
| Gm13889 |
T |
C |
2: 93,787,327 (GRCm39) |
Q49R |
unknown |
Het |
| Gm35315 |
T |
A |
5: 110,228,392 (GRCm39) |
H18L |
probably benign |
Het |
| Gm9949 |
G |
A |
18: 62,317,043 (GRCm39) |
G65R |
unknown |
Het |
| Gpr153 |
C |
T |
4: 152,363,558 (GRCm39) |
|
probably benign |
Het |
| Hrh3 |
A |
G |
2: 179,743,149 (GRCm39) |
W160R |
probably damaging |
Het |
| Htr4 |
G |
A |
18: 62,570,763 (GRCm39) |
A273T |
probably damaging |
Het |
| Lig3 |
G |
T |
11: 82,685,376 (GRCm39) |
C599F |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,172,207 (GRCm39) |
V1594E |
|
Het |
| Map3k10 |
A |
T |
7: 27,367,780 (GRCm39) |
V286D |
probably damaging |
Het |
| Map4k4 |
T |
A |
1: 40,015,910 (GRCm39) |
V117E |
unknown |
Het |
| Mdga1 |
C |
T |
17: 30,061,348 (GRCm39) |
V548M |
possibly damaging |
Het |
| Mms22l |
A |
T |
4: 24,507,363 (GRCm39) |
L248F |
possibly damaging |
Het |
| Ncaph |
T |
C |
2: 126,963,096 (GRCm39) |
D379G |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,037,246 (GRCm39) |
V7064A |
probably benign |
Het |
| Neb |
G |
A |
2: 52,102,563 (GRCm39) |
T4570M |
probably benign |
Het |
| Npy5r |
G |
T |
8: 67,134,274 (GRCm39) |
T173K |
probably damaging |
Het |
| Or52a33 |
A |
T |
7: 103,288,822 (GRCm39) |
I175N |
probably damaging |
Het |
| Or5b94 |
A |
G |
19: 12,652,246 (GRCm39) |
M226V |
probably benign |
Het |
| Or5b97 |
A |
T |
19: 12,878,828 (GRCm39) |
F105L |
possibly damaging |
Het |
| Or5g25 |
A |
T |
2: 85,478,330 (GRCm39) |
C112S |
possibly damaging |
Het |
| Or8u10 |
A |
T |
2: 85,915,518 (GRCm39) |
I201N |
probably damaging |
Het |
| Oxsm |
A |
G |
14: 16,242,631 (GRCm38) |
I46T |
possibly damaging |
Het |
| Pcdha1 |
A |
T |
18: 37,064,076 (GRCm39) |
I247F |
probably benign |
Het |
| Pcdhgb6 |
A |
T |
18: 37,875,975 (GRCm39) |
I228L |
probably benign |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,474 (GRCm39) |
S866G |
probably benign |
Het |
| Ppp6r3 |
T |
A |
19: 3,546,587 (GRCm39) |
S304C |
probably damaging |
Het |
| Pramel11 |
A |
T |
4: 143,623,762 (GRCm39) |
N137K |
probably benign |
Het |
| Ptprd |
A |
T |
4: 75,959,629 (GRCm39) |
F279I |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rest |
G |
A |
5: 77,429,389 (GRCm39) |
G603R |
probably benign |
Het |
| Rgs17 |
A |
T |
10: 5,868,194 (GRCm39) |
L9M |
probably benign |
Het |
| Rtp1 |
A |
G |
16: 23,250,133 (GRCm39) |
Y166C |
probably damaging |
Het |
| Sec24b |
C |
A |
3: 129,798,653 (GRCm39) |
R572I |
probably damaging |
Het |
| Setd1a |
G |
T |
7: 127,385,774 (GRCm39) |
R827L |
possibly damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,859,235 (GRCm39) |
Y1091C |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Stat4 |
T |
A |
1: 52,111,096 (GRCm39) |
M181K |
probably benign |
Het |
| Stk16 |
A |
G |
1: 75,188,682 (GRCm39) |
E67G |
probably benign |
Het |
| Supv3l1 |
A |
G |
10: 62,268,234 (GRCm39) |
V537A |
possibly damaging |
Het |
| Tmc8 |
A |
G |
11: 117,674,361 (GRCm39) |
E101G |
possibly damaging |
Het |
| Tmem106a |
A |
T |
11: 101,473,120 (GRCm39) |
|
probably benign |
Het |
| Tpr |
T |
A |
1: 150,293,772 (GRCm39) |
I922N |
probably damaging |
Het |
| Uaca |
G |
T |
9: 60,778,347 (GRCm39) |
L911F |
probably damaging |
Het |
| Ubn1 |
A |
T |
16: 4,881,567 (GRCm39) |
I200L |
possibly damaging |
Het |
| Ush2a |
A |
G |
1: 188,643,574 (GRCm39) |
D4312G |
probably damaging |
Het |
| Virma |
A |
T |
4: 11,528,678 (GRCm39) |
Y1255F |
probably benign |
Het |
| Vmn1r170 |
C |
T |
7: 23,306,080 (GRCm39) |
Q161* |
probably null |
Het |
| Vmn1r175 |
G |
T |
7: 23,508,234 (GRCm39) |
A131D |
probably benign |
Het |
| Vmn1r52 |
T |
A |
6: 90,155,742 (GRCm39) |
N15K |
probably benign |
Het |
| Wdr46 |
T |
A |
17: 34,167,826 (GRCm39) |
I513N |
probably damaging |
Het |
| Zfp788 |
A |
G |
7: 41,297,840 (GRCm39) |
N159D |
probably benign |
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 |
|
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 |
4,424,347 (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'- ACCGTGTTCACAGGATGCATC -3'
(R):5'- TGCATCAGCGACTTATACCTG -3'
Sequencing Primer
(F):5'- GATGCATCCCCCGCTCAC -3'
(R):5'- GGCTATTTGGATATTATGCATCCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation