Incidental Mutation 'R9743:Gria4'
| ID |
731927 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.627)
|
| Stock # |
R9743 (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 4464457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 502
(T502P)
|
| 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: T502P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: T502P
| 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: T502P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: T502P
| 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: T502P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.8%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
A |
G |
2: 31,687,716 (GRCm39) |
H571R |
probably benign |
Het |
| Adamts13 |
T |
C |
2: 26,886,812 (GRCm39) |
V983A |
probably benign |
Het |
| Adamts13 |
G |
A |
2: 26,895,491 (GRCm39) |
|
probably null |
Het |
| AI661453 |
T |
A |
17: 47,780,240 (GRCm39) |
N1181K |
unknown |
Het |
| Ank2 |
A |
T |
3: 126,733,794 (GRCm39) |
N605K |
possibly damaging |
Het |
| Armc2 |
T |
G |
10: 41,798,598 (GRCm39) |
K737T |
probably benign |
Het |
| Aspn |
A |
G |
13: 49,705,150 (GRCm39) |
Y4C |
probably benign |
Het |
| B3galt2 |
T |
C |
1: 143,522,847 (GRCm39) |
F328L |
probably benign |
Het |
| Brd10 |
A |
C |
19: 29,694,261 (GRCm39) |
I1744S |
probably benign |
Het |
| Ccl3 |
T |
C |
11: 83,539,428 (GRCm39) |
E52G |
probably damaging |
Het |
| Col5a1 |
C |
T |
2: 27,864,505 (GRCm39) |
A728V |
unknown |
Het |
| Cyp1b1 |
T |
A |
17: 80,017,808 (GRCm39) |
D449V |
probably benign |
Het |
| D130043K22Rik |
C |
T |
13: 25,056,299 (GRCm39) |
P544S |
probably damaging |
Het |
| Dgkd |
T |
A |
1: 87,861,850 (GRCm39) |
W28R |
|
Het |
| Emilin2 |
T |
C |
17: 71,580,867 (GRCm39) |
T620A |
probably benign |
Het |
| Ercc6 |
T |
G |
14: 32,298,943 (GRCm39) |
S1444A |
probably benign |
Het |
| Fam149b |
A |
G |
14: 20,413,411 (GRCm39) |
H264R |
probably benign |
Het |
| Fbxo7 |
T |
C |
10: 85,883,773 (GRCm39) |
V458A |
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,022,125 (GRCm39) |
T974A |
possibly damaging |
Het |
| Ifna16 |
T |
C |
4: 88,594,930 (GRCm39) |
D55G |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,809,323 (GRCm39) |
V331A |
possibly damaging |
Het |
| Mkks |
T |
C |
2: 136,722,992 (GRCm39) |
Y55C |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,601,194 (GRCm39) |
F1291L |
|
Het |
| Myo18a |
A |
G |
11: 77,723,304 (GRCm39) |
N1183S |
probably benign |
Het |
| Olfm2 |
T |
C |
9: 20,579,785 (GRCm39) |
D322G |
probably damaging |
Het |
| Or2a25 |
G |
A |
6: 42,888,835 (GRCm39) |
C126Y |
probably damaging |
Het |
| Or2a51 |
A |
G |
6: 43,179,229 (GRCm39) |
Y217C |
probably benign |
Het |
| Or5aq7 |
A |
G |
2: 86,937,840 (GRCm39) |
V297A |
probably damaging |
Het |
| Or7h8 |
A |
G |
9: 20,123,840 (GRCm39) |
N65S |
probably damaging |
Het |
| Pdik1l |
A |
T |
4: 134,011,815 (GRCm39) |
D9E |
probably benign |
Het |
| Pdzrn3 |
C |
A |
6: 101,354,678 (GRCm39) |
G58C |
probably damaging |
Het |
| Pex13 |
A |
T |
11: 23,606,119 (GRCm39) |
L37* |
probably null |
Het |
| Pigr |
G |
A |
1: 130,769,540 (GRCm39) |
R117Q |
possibly damaging |
Het |
| Ptprq |
T |
A |
10: 107,520,982 (GRCm39) |
Y730F |
probably damaging |
Het |
| Rnase11 |
T |
A |
14: 51,287,370 (GRCm39) |
K61N |
probably benign |
Het |
| Setdb2 |
T |
C |
14: 59,651,002 (GRCm39) |
D427G |
probably benign |
Het |
| Slc22a21 |
A |
G |
11: 53,842,575 (GRCm39) |
V518A |
probably benign |
Het |
| Slf2 |
T |
C |
19: 44,930,572 (GRCm39) |
S550P |
probably benign |
Het |
| Supt16 |
T |
C |
14: 52,408,939 (GRCm39) |
R812G |
probably damaging |
Het |
| Taf4 |
C |
T |
2: 179,581,592 (GRCm39) |
V464M |
possibly damaging |
Het |
| Tas1r3 |
G |
A |
4: 155,945,256 (GRCm39) |
T655I |
probably damaging |
Het |
| Tg |
G |
A |
15: 66,561,839 (GRCm39) |
V1108I |
probably benign |
Het |
| Tmc7 |
C |
A |
7: 118,150,452 (GRCm39) |
R360S |
probably damaging |
Het |
| Tor3a |
T |
C |
1: 156,501,103 (GRCm39) |
T112A |
probably benign |
Het |
| Tsr3 |
T |
C |
17: 25,460,674 (GRCm39) |
L180P |
possibly damaging |
Het |
| Unc5d |
T |
C |
8: 29,209,801 (GRCm39) |
T512A |
possibly damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,032,475 (GRCm39) |
Y750N |
probably damaging |
Het |
| Vmn2r20 |
A |
T |
6: 123,373,369 (GRCm39) |
V491D |
probably damaging |
Het |
| Vmn2r52 |
T |
C |
7: 9,904,606 (GRCm39) |
E411G |
possibly damaging |
Het |
| Zfp760 |
T |
A |
17: 21,942,338 (GRCm39) |
S504R |
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 |
4,424,351 (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 |
|
|
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'- CACGCTGACACCAATGTATGC -3'
(R):5'- GGAATTCTGTCTGTCTCCAAGAAATG -3'
Sequencing Primer
(F):5'- TGTATGCAAACACTATGCACATC -3'
(R):5'- TCTCATGAGACAAAACCACTACATG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation