Incidental Mutation 'R7703:Gria4'
| ID |
594125 |
| 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 |
045764-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.627)
|
| Stock # |
R7703 (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 C
at 4503588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 343
(I343V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027020]
[ENSMUST00000063508]
[ENSMUST00000163309]
[ENSMUST00000212533]
|
| AlphaFold |
Q9Z2W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027020
AA Change: I343V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: I343V
| 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: I343V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: I343V
| 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: I343V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129316
Gene: ENSMUSG00000025892
AA Change: I343V
| 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: I343V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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 |
|---|
| 1810065E05Rik |
T |
C |
11: 58,316,593 (GRCm39) |
I191T |
probably damaging |
Het |
| 2310003L06Rik |
T |
C |
5: 88,120,671 (GRCm39) |
L476P |
possibly damaging |
Het |
| Aasdh |
T |
C |
5: 77,035,924 (GRCm39) |
D387G |
probably damaging |
Het |
| Ahsa2 |
T |
A |
11: 23,440,415 (GRCm39) |
T327S |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,553,678 (GRCm39) |
V523E |
probably damaging |
Het |
| Baz2b |
C |
A |
2: 59,747,769 (GRCm39) |
R1298L |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,765,503 (GRCm39) |
T802A |
possibly damaging |
Het |
| Cdh23 |
G |
T |
10: 60,173,043 (GRCm39) |
T1714K |
probably damaging |
Het |
| Chrna3 |
A |
T |
9: 54,923,408 (GRCm39) |
D133E |
probably benign |
Het |
| Cnot1 |
C |
T |
8: 96,486,726 (GRCm39) |
|
probably null |
Het |
| Col16a1 |
A |
T |
4: 129,990,295 (GRCm39) |
N1396Y |
unknown |
Het |
| Cox11 |
A |
G |
11: 90,529,245 (GRCm39) |
N77S |
probably benign |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cytip |
A |
G |
2: 58,037,920 (GRCm39) |
V148A |
probably damaging |
Het |
| Diaph1 |
T |
C |
18: 38,023,862 (GRCm39) |
I659V |
unknown |
Het |
| Dmxl2 |
A |
T |
9: 54,368,370 (GRCm39) |
M26K |
probably benign |
Het |
| Erp44 |
T |
A |
4: 48,196,904 (GRCm39) |
I340F |
probably benign |
Het |
| Fam186a |
A |
G |
15: 99,852,678 (GRCm39) |
M180T |
unknown |
Het |
| Frem2 |
C |
T |
3: 53,429,589 (GRCm39) |
V2793I |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,266,539 (GRCm39) |
E1064G |
probably damaging |
Het |
| Grsf1 |
T |
A |
5: 88,819,150 (GRCm39) |
N228Y |
probably damaging |
Het |
| H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
| Ighv1-18 |
A |
T |
12: 114,646,381 (GRCm39) |
N74K |
probably benign |
Het |
| Kcnh6 |
A |
T |
11: 105,914,703 (GRCm39) |
T703S |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,000,798 (GRCm39) |
D2256V |
|
Het |
| Lrrc63 |
T |
C |
14: 75,360,447 (GRCm39) |
T352A |
possibly damaging |
Het |
| Lztfl1 |
T |
C |
9: 123,531,194 (GRCm39) |
E258G |
probably damaging |
Het |
| Mcph1 |
T |
C |
8: 18,721,122 (GRCm39) |
I650T |
possibly damaging |
Het |
| Mep1a |
T |
C |
17: 43,788,997 (GRCm39) |
D606G |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,516,578 (GRCm39) |
I313M |
|
Het |
| Myh7b |
A |
G |
2: 155,462,356 (GRCm39) |
Y353C |
probably null |
Het |
| Nfatc1 |
A |
G |
18: 80,725,504 (GRCm39) |
L420P |
probably damaging |
Het |
| Olfml1 |
A |
G |
7: 107,170,392 (GRCm39) |
E93G |
probably damaging |
Het |
| Or6b1 |
A |
T |
6: 42,814,938 (GRCm39) |
E41V |
probably damaging |
Het |
| Or8c11 |
A |
G |
9: 38,289,357 (GRCm39) |
H54R |
probably benign |
Het |
| Pax1 |
A |
T |
2: 147,208,034 (GRCm39) |
N214I |
probably damaging |
Het |
| Pcdhb17 |
C |
A |
18: 37,619,801 (GRCm39) |
H530Q |
probably benign |
Het |
| Pcdhgb7 |
A |
T |
18: 37,885,321 (GRCm39) |
M164L |
probably benign |
Het |
| Pcolce |
T |
C |
5: 137,603,474 (GRCm39) |
N453S |
probably benign |
Het |
| Prr36 |
T |
C |
8: 4,262,982 (GRCm39) |
T895A |
probably benign |
Het |
| Ptprq |
C |
T |
10: 107,480,007 (GRCm39) |
V1088I |
probably benign |
Het |
| Rab5a |
T |
A |
17: 53,807,485 (GRCm39) |
F174I |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,010,315 (GRCm39) |
D291G |
probably benign |
Het |
| Rbm25 |
A |
T |
12: 83,721,864 (GRCm39) |
K683N |
possibly damaging |
Het |
| Rbpj |
T |
C |
5: 53,803,240 (GRCm39) |
I156T |
probably damaging |
Het |
| Rgsl1 |
A |
G |
1: 153,669,610 (GRCm39) |
S259P |
possibly damaging |
Het |
| Ring1 |
T |
C |
17: 34,242,109 (GRCm39) |
D100G |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,690,110 (GRCm39) |
D1166E |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,443,539 (GRCm39) |
K1862E |
possibly damaging |
Het |
| Scamp5 |
A |
G |
9: 57,354,465 (GRCm39) |
I63T |
possibly damaging |
Het |
| Septin14 |
C |
T |
5: 129,763,092 (GRCm39) |
A334T |
possibly damaging |
Het |
| Sh3rf2 |
A |
T |
18: 42,289,201 (GRCm39) |
Q706L |
probably benign |
Het |
| Skap2 |
A |
T |
6: 51,884,934 (GRCm39) |
H242Q |
probably benign |
Het |
| Spmap2l |
T |
C |
5: 77,164,444 (GRCm39) |
I149T |
probably benign |
Het |
| Tfpt |
A |
G |
7: 3,623,744 (GRCm39) |
|
probably null |
Het |
| Thg1l |
T |
G |
11: 45,846,120 (GRCm39) |
D58A |
probably damaging |
Het |
| Thyn1 |
A |
G |
9: 26,918,143 (GRCm39) |
E177G |
probably benign |
Het |
| Tmem151b |
C |
T |
17: 45,856,724 (GRCm39) |
A239T |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,788,095 (GRCm39) |
V840A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,968,153 (GRCm39) |
V170E |
probably damaging |
Het |
| Vmn2r29 |
A |
G |
7: 7,234,864 (GRCm39) |
V674A |
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,263,513 (GRCm39) |
N781S |
probably damaging |
Het |
| Zbtb7c |
C |
A |
18: 76,270,433 (GRCm39) |
Q174K |
probably benign |
Het |
| Zeb1 |
T |
C |
18: 5,766,917 (GRCm39) |
I476T |
probably benign |
Het |
| Zfp91 |
A |
T |
19: 12,754,241 (GRCm39) |
D282E |
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 |
|
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'- TGGAATACTGGACTCTTGATAACC -3'
(R):5'- GTCATAAGCCCACAGAGCTC -3'
Sequencing Primer
(F):5'- ATGCATATACAGAATAACCACTGC -3'
(R):5'- ACAGAGCTCCAAGATTTCTCTTTGTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation