Incidental Mutation 'R0295:Gria4'
| ID |
37690 |
| 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 |
038512-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.627)
|
| Stock # |
R0295 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
4417896-4796234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4793840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 73
(T73A)
|
| 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: T73A
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: T73A
| 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: T73A
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: T73A
| 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 |
possibly damaging
Transcript: ENSMUST00000163309
AA Change: T73A
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000129316
Gene: ENSMUSG00000025892
AA Change: T73A
| 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: T73A
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| Meta Mutation Damage Score |
0.0923 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.9%
|
| Validation Efficiency |
100% (70/70) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
G |
A |
10: 76,290,642 (GRCm39) |
S127N |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,767,478 (GRCm39) |
R953G |
probably benign |
Het |
| Adamtsl3 |
T |
A |
7: 82,197,213 (GRCm39) |
|
probably null |
Het |
| Adh4 |
A |
G |
3: 138,134,837 (GRCm39) |
D337G |
probably damaging |
Het |
| Apob |
T |
A |
12: 8,052,181 (GRCm39) |
Y1207* |
probably null |
Het |
| Birc6 |
T |
C |
17: 74,920,357 (GRCm39) |
|
probably benign |
Het |
| Bms1 |
A |
G |
6: 118,366,298 (GRCm39) |
I1065T |
probably benign |
Het |
| Cacna1i |
T |
A |
15: 80,240,412 (GRCm39) |
L378Q |
probably damaging |
Het |
| Ccdc127 |
C |
A |
13: 74,504,989 (GRCm39) |
P179H |
probably damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,321,655 (GRCm39) |
K586N |
probably damaging |
Het |
| Cep290 |
A |
C |
10: 100,373,683 (GRCm39) |
E1321A |
probably damaging |
Het |
| Cstpp1 |
A |
T |
2: 91,112,939 (GRCm39) |
I173N |
probably damaging |
Het |
| Ctc1 |
A |
G |
11: 68,921,414 (GRCm39) |
K682E |
possibly damaging |
Het |
| Cux1 |
A |
C |
5: 136,342,066 (GRCm39) |
V442G |
probably benign |
Het |
| Dph2 |
A |
T |
4: 117,748,127 (GRCm39) |
V150E |
possibly damaging |
Het |
| Etv6 |
A |
G |
6: 134,243,238 (GRCm39) |
D331G |
probably benign |
Het |
| Fbxo42 |
A |
G |
4: 140,927,808 (GRCm39) |
D696G |
probably damaging |
Het |
| Fbxo8 |
G |
A |
8: 57,043,109 (GRCm39) |
D198N |
probably benign |
Het |
| H2aj |
C |
G |
6: 136,785,602 (GRCm39) |
R89G |
probably damaging |
Het |
| Ifng |
G |
T |
10: 118,277,154 (GRCm39) |
S32I |
possibly damaging |
Het |
| Ildr1 |
A |
G |
16: 36,529,839 (GRCm39) |
|
probably null |
Het |
| Knl1 |
A |
C |
2: 118,919,320 (GRCm39) |
D1824A |
probably damaging |
Het |
| Lamp3 |
A |
T |
16: 19,519,858 (GRCm39) |
Y108* |
probably null |
Het |
| Lcp1 |
A |
G |
14: 75,436,860 (GRCm39) |
I69V |
probably null |
Het |
| Lrp6 |
A |
T |
6: 134,434,656 (GRCm39) |
V1349E |
probably benign |
Het |
| Lrrcc1 |
A |
T |
3: 14,630,909 (GRCm39) |
E1009D |
probably benign |
Het |
| Marf1 |
C |
T |
16: 13,960,398 (GRCm39) |
A549T |
probably damaging |
Het |
| Med14 |
G |
C |
X: 12,551,987 (GRCm39) |
R1223G |
probably damaging |
Het |
| Mesd |
C |
T |
7: 83,547,073 (GRCm39) |
Q179* |
probably null |
Het |
| Myh7 |
A |
G |
14: 55,222,278 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,190,861 (GRCm39) |
I804T |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,174,297 (GRCm39) |
I1521V |
possibly damaging |
Het |
| Nosip |
T |
A |
7: 44,726,340 (GRCm39) |
I249N |
probably damaging |
Het |
| Nostrin |
A |
C |
2: 69,009,760 (GRCm39) |
E296A |
probably benign |
Het |
| Oprk1 |
T |
C |
1: 5,669,073 (GRCm39) |
L173S |
possibly damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,182 (GRCm39) |
I45F |
probably damaging |
Het |
| Or4k36 |
T |
A |
2: 111,146,499 (GRCm39) |
V225D |
probably damaging |
Het |
| Or51v8 |
T |
C |
7: 103,319,518 (GRCm39) |
H240R |
probably damaging |
Het |
| Or5p1 |
T |
G |
7: 107,916,892 (GRCm39) |
S264A |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,025,511 (GRCm39) |
V328A |
probably benign |
Het |
| Podxl2 |
A |
T |
6: 88,826,660 (GRCm39) |
S215R |
probably benign |
Het |
| Prss36 |
T |
G |
7: 127,535,027 (GRCm39) |
T418P |
possibly damaging |
Het |
| Ralgps2 |
T |
A |
1: 156,651,555 (GRCm39) |
|
probably benign |
Het |
| Rasa2 |
T |
C |
9: 96,427,863 (GRCm39) |
|
probably null |
Het |
| Rgs1 |
A |
T |
1: 144,121,224 (GRCm39) |
I149N |
probably damaging |
Het |
| Rgs16 |
A |
G |
1: 153,619,483 (GRCm39) |
E163G |
probably damaging |
Het |
| Rnf121 |
A |
G |
7: 101,684,553 (GRCm39) |
F120S |
possibly damaging |
Het |
| Slc17a3 |
C |
T |
13: 24,039,841 (GRCm39) |
S293F |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,169 (GRCm39) |
Y823* |
probably null |
Het |
| Spdl1 |
A |
T |
11: 34,704,170 (GRCm39) |
N554K |
possibly damaging |
Het |
| St6gal1 |
T |
A |
16: 23,174,953 (GRCm39) |
|
probably benign |
Het |
| Tet3 |
G |
A |
6: 83,346,121 (GRCm39) |
P1304S |
probably benign |
Het |
| Timm29 |
T |
C |
9: 21,504,372 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
T |
A |
5: 120,677,125 (GRCm39) |
I687F |
probably damaging |
Het |
| Trim46 |
A |
G |
3: 89,152,420 (GRCm39) |
|
probably benign |
Het |
| Ttc23 |
T |
A |
7: 67,319,600 (GRCm39) |
|
probably benign |
Het |
| Ttll6 |
G |
T |
11: 96,045,540 (GRCm39) |
V586L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,588,955 (GRCm39) |
|
probably benign |
Het |
| Uba3 |
A |
T |
6: 97,168,544 (GRCm39) |
H160Q |
possibly damaging |
Het |
| Usp32 |
A |
G |
11: 84,944,518 (GRCm39) |
S316P |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,860,310 (GRCm39) |
I352M |
probably benign |
Het |
| Zcwpw1 |
G |
T |
5: 137,815,734 (GRCm39) |
L412F |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,281 (GRCm39) |
N2254K |
probably damaging |
Het |
| Zscan4e |
A |
G |
7: 11,041,543 (GRCm39) |
S138P |
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 |
|
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 |
4,424,351 (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'- AAAGGAAGGCAGGCACTTACTTCAG -3'
(R):5'- GCAGCCCCTATGATATGGCAAAGAG -3'
Sequencing Primer
(F):5'- caaggaagggtggaaggaag -3'
(R):5'- TTGACAGTCATGGAACTAGGTGTAAC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation