Incidental Mutation 'R6280:Gria4'
| ID |
507906 |
| 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 |
044450-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.690)
|
| Stock # |
R6280 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
4417896-4796234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4456072 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 743
(M743V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027020]
[ENSMUST00000063508]
[ENSMUST00000212533]
|
| AlphaFold |
Q9Z2W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027020
AA Change: M743V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: M743V
| 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: M743V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: M743V
| 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 |
noncoding transcript
Transcript: ENSMUST00000175155
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212533
AA Change: M743V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.2148 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (75/75) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
C |
T |
1: 71,311,619 (GRCm39) |
D1930N |
probably benign |
Het |
| Adam8 |
A |
G |
7: 139,564,720 (GRCm39) |
L667S |
probably damaging |
Het |
| Adcy4 |
A |
T |
14: 56,016,500 (GRCm39) |
I317N |
probably damaging |
Het |
| Agpat3 |
A |
G |
10: 78,120,872 (GRCm39) |
F102S |
probably damaging |
Het |
| Apbb2 |
A |
T |
5: 66,522,325 (GRCm39) |
W443R |
probably damaging |
Het |
| BC049715 |
T |
A |
6: 136,817,229 (GRCm39) |
Y156* |
probably null |
Het |
| Bpifc |
C |
T |
10: 85,813,576 (GRCm39) |
V323I |
probably benign |
Het |
| Camp |
T |
G |
9: 109,676,577 (GRCm39) |
I149L |
probably benign |
Het |
| Cfap20dc |
T |
G |
14: 8,473,414 (GRCm38) |
|
probably null |
Het |
| Cibar2 |
A |
G |
8: 120,898,858 (GRCm39) |
I94T |
possibly damaging |
Het |
| Cnih1 |
A |
G |
14: 47,025,634 (GRCm39) |
|
probably null |
Het |
| Col18a1 |
A |
T |
10: 76,948,323 (GRCm39) |
|
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,599,724 (GRCm39) |
D780V |
probably damaging |
Het |
| Dync1i1 |
G |
A |
6: 5,972,084 (GRCm39) |
V442I |
probably benign |
Het |
| Fam83g |
G |
T |
11: 61,594,008 (GRCm39) |
S514I |
probably benign |
Het |
| Fbxo7 |
A |
G |
10: 85,864,969 (GRCm39) |
N93D |
probably benign |
Het |
| Fgf20 |
G |
T |
8: 40,734,153 (GRCm39) |
S76* |
probably null |
Het |
| Foxi1 |
A |
G |
11: 34,157,972 (GRCm39) |
F18L |
probably damaging |
Het |
| Fxr1 |
G |
A |
3: 34,100,401 (GRCm39) |
|
probably benign |
Het |
| Gon4l |
T |
A |
3: 88,798,195 (GRCm39) |
L800H |
probably damaging |
Het |
| Gpn3 |
T |
A |
5: 122,512,022 (GRCm39) |
S33T |
probably benign |
Het |
| Hira |
A |
G |
16: 18,729,457 (GRCm39) |
N109D |
probably damaging |
Het |
| Hsd3b3 |
A |
G |
3: 98,660,621 (GRCm39) |
|
probably null |
Het |
| Hsf2 |
T |
G |
10: 57,387,591 (GRCm39) |
S370A |
probably benign |
Het |
| Htt |
T |
A |
5: 35,028,103 (GRCm39) |
D1786E |
probably benign |
Het |
| Ifit1bl2 |
T |
A |
19: 34,597,534 (GRCm39) |
R27S |
possibly damaging |
Het |
| Il17rb |
G |
A |
14: 29,724,928 (GRCm39) |
A186V |
probably benign |
Het |
| Irak4 |
G |
T |
15: 94,449,691 (GRCm39) |
E57* |
probably null |
Het |
| Kcnh2 |
T |
A |
5: 24,536,921 (GRCm39) |
H221L |
probably benign |
Het |
| Kdm2b |
T |
C |
5: 123,016,687 (GRCm39) |
N1149D |
probably damaging |
Het |
| Kif26a |
A |
G |
12: 112,141,303 (GRCm39) |
H702R |
probably damaging |
Het |
| Kmt2e |
T |
C |
5: 23,704,514 (GRCm39) |
S1236P |
possibly damaging |
Het |
| Krt77 |
T |
A |
15: 101,773,910 (GRCm39) |
D248V |
probably damaging |
Het |
| Lgals3bp |
T |
C |
11: 118,284,106 (GRCm39) |
N52S |
possibly damaging |
Het |
| Lhfpl6 |
T |
C |
3: 53,167,935 (GRCm39) |
Y170H |
probably damaging |
Het |
| Lpin2 |
A |
G |
17: 71,539,243 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,846,848 (GRCm39) |
I872T |
probably benign |
Het |
| Lrit3 |
T |
C |
3: 129,582,412 (GRCm39) |
E525G |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,425,453 (GRCm39) |
T726A |
probably benign |
Het |
| Mep1a |
A |
T |
17: 43,813,283 (GRCm39) |
N46K |
probably damaging |
Het |
| Muc16 |
C |
A |
9: 18,490,613 (GRCm39) |
|
probably null |
Het |
| N4bp1 |
A |
C |
8: 87,579,794 (GRCm39) |
N669K |
possibly damaging |
Het |
| Nelfcd |
A |
G |
2: 174,257,739 (GRCm39) |
D26G |
probably benign |
Het |
| Neu4 |
G |
A |
1: 93,952,873 (GRCm39) |
S414N |
probably damaging |
Het |
| Nudt9 |
A |
G |
5: 104,212,935 (GRCm39) |
D336G |
probably benign |
Het |
| Obscn |
C |
A |
11: 58,954,509 (GRCm39) |
G3691V |
possibly damaging |
Het |
| Or4c52 |
A |
C |
2: 89,845,393 (GRCm39) |
I40L |
possibly damaging |
Het |
| Or5t17 |
A |
G |
2: 86,832,364 (GRCm39) |
N17S |
probably damaging |
Het |
| Pdgfd |
T |
A |
9: 6,288,627 (GRCm39) |
S94T |
probably benign |
Het |
| Picalm |
A |
G |
7: 89,826,770 (GRCm39) |
H290R |
probably benign |
Het |
| Pou2f3 |
A |
T |
9: 43,050,634 (GRCm39) |
L242Q |
probably damaging |
Het |
| Pou2f3 |
G |
T |
9: 43,050,635 (GRCm39) |
L242M |
probably damaging |
Het |
| Prkd3 |
C |
T |
17: 79,289,360 (GRCm39) |
G187D |
probably damaging |
Het |
| Pwp1 |
A |
G |
10: 85,710,326 (GRCm39) |
S49G |
probably damaging |
Het |
| Ralgapa2 |
A |
G |
2: 146,184,129 (GRCm39) |
L1626P |
probably damaging |
Het |
| Resf1 |
T |
C |
6: 149,228,555 (GRCm39) |
S534P |
probably damaging |
Het |
| Rin2 |
A |
G |
2: 145,702,939 (GRCm39) |
Y545C |
probably damaging |
Het |
| Rwdd4a |
A |
G |
8: 47,995,832 (GRCm39) |
T71A |
probably benign |
Het |
| Senp7 |
T |
C |
16: 55,982,738 (GRCm39) |
F504L |
possibly damaging |
Het |
| Slc12a6 |
A |
G |
2: 112,167,703 (GRCm39) |
T231A |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc34a1 |
A |
G |
13: 24,006,377 (GRCm39) |
S468G |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,112,310 (GRCm39) |
N697S |
probably benign |
Het |
| Spint1 |
T |
A |
2: 119,075,759 (GRCm39) |
V194E |
possibly damaging |
Het |
| Sptlc2 |
A |
T |
12: 87,434,905 (GRCm39) |
M14K |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,531,608 (GRCm39) |
K2622E |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,089,338 (GRCm39) |
N614S |
probably benign |
Het |
| Tdpoz2 |
A |
T |
3: 93,559,190 (GRCm39) |
C261S |
probably benign |
Het |
| Tmem150b |
A |
T |
7: 4,727,373 (GRCm39) |
I44N |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,608,502 (GRCm39) |
L17807P |
probably damaging |
Het |
| Vcan |
G |
A |
13: 89,873,492 (GRCm39) |
R121W |
probably damaging |
Het |
| Vmn2r15 |
T |
A |
5: 109,441,291 (GRCm39) |
H189L |
possibly damaging |
Het |
| Vmn2r19 |
A |
G |
6: 123,313,212 (GRCm39) |
S761G |
probably benign |
Het |
| Wdr11 |
A |
T |
7: 129,200,830 (GRCm39) |
K34* |
probably null |
Het |
| Zfp120 |
A |
T |
2: 149,959,964 (GRCm39) |
S141R |
possibly damaging |
Het |
| Zfp462 |
C |
G |
4: 55,010,253 (GRCm39) |
P740A |
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 |
|
|
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'- GCAGGGAGCTAGTGTTCAAC -3'
(R):5'- AAGACTTACCGTAACCTCACTTCTG -3'
Sequencing Primer
(F):5'- AGCTAGTGTTCAACCACTTTGG -3'
(R):5'- TCACTTCTGTCTATATTAACATGCTG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation