Incidental Mutation 'R7501:Gria4'
ID |
581481 |
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 |
045574-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.627)
|
Stock # |
R7501 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
4417896-4796234 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 4502436 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 366
(Y366N)
|
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: Y366N
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000027020 Gene: ENSMUSG00000025892 AA Change: Y366N
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: Y366N
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000066980 Gene: ENSMUSG00000025892 AA Change: Y366N
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: ENSMUST00000163309
AA Change: Y366N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129316 Gene: ENSMUSG00000025892 AA Change: Y366N
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: Y366N
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (61/61) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
A |
G |
3: 36,142,974 (GRCm39) |
N503S |
probably benign |
Het |
Adam1a |
C |
T |
5: 121,657,011 (GRCm39) |
A761T |
possibly damaging |
Het |
Amn1 |
C |
T |
6: 149,086,529 (GRCm39) |
M44I |
probably benign |
Het |
Ankrd44 |
T |
C |
1: 54,688,522 (GRCm39) |
E238G |
|
Het |
Ap3b2 |
A |
T |
7: 81,123,194 (GRCm39) |
I440K |
probably damaging |
Het |
Atp2a1 |
G |
A |
7: 126,049,344 (GRCm39) |
T566I |
probably benign |
Het |
B3galnt1 |
T |
C |
3: 69,482,632 (GRCm39) |
I210V |
probably benign |
Het |
Bag5 |
T |
C |
12: 111,676,722 (GRCm39) |
K367R |
probably benign |
Het |
Cdc25b |
T |
C |
2: 131,036,080 (GRCm39) |
Y410H |
probably damaging |
Het |
Cgref1 |
G |
T |
5: 31,102,800 (GRCm39) |
P7Q |
probably damaging |
Het |
Cnot6 |
T |
C |
11: 49,576,159 (GRCm39) |
I136V |
probably benign |
Het |
Comp |
A |
G |
8: 70,832,059 (GRCm39) |
D500G |
possibly damaging |
Het |
Dnah7b |
T |
C |
1: 46,395,714 (GRCm39) |
L3872P |
probably damaging |
Het |
Dync2h1 |
A |
T |
9: 7,175,336 (GRCm39) |
L91Q |
possibly damaging |
Het |
Fancd2 |
T |
C |
6: 113,525,364 (GRCm39) |
V280A |
possibly damaging |
Het |
Fat4 |
T |
A |
3: 39,012,597 (GRCm39) |
Y2297* |
probably null |
Het |
Fem1c |
A |
T |
18: 46,638,868 (GRCm39) |
M378K |
probably damaging |
Het |
Gata6 |
A |
G |
18: 11,054,082 (GRCm39) |
T4A |
probably damaging |
Het |
Gatb |
G |
C |
3: 85,544,297 (GRCm39) |
V422L |
probably damaging |
Het |
Gfpt1 |
T |
A |
6: 87,059,508 (GRCm39) |
D510E |
probably benign |
Het |
Gucy1b1 |
T |
C |
3: 81,942,666 (GRCm39) |
H492R |
probably damaging |
Het |
H2bc6 |
A |
G |
13: 23,769,776 (GRCm39) |
I55T |
possibly damaging |
Het |
Hecw2 |
T |
C |
1: 53,953,031 (GRCm39) |
|
probably null |
Het |
Hnrnph1 |
A |
C |
11: 50,270,383 (GRCm39) |
E62D |
probably benign |
Het |
Itga2 |
A |
G |
13: 115,012,095 (GRCm39) |
V274A |
probably damaging |
Het |
Kdm5d |
T |
A |
Y: 941,488 (GRCm39) |
W1230R |
probably damaging |
Het |
Lctl |
A |
T |
9: 64,038,861 (GRCm39) |
M317L |
probably benign |
Het |
Lrp6 |
T |
C |
6: 134,463,471 (GRCm39) |
D570G |
probably damaging |
Het |
Lrrc9 |
G |
T |
12: 72,496,490 (GRCm39) |
M39I |
probably damaging |
Het |
Ltbp2 |
A |
T |
12: 84,877,419 (GRCm39) |
I402N |
probably damaging |
Het |
Mst1 |
G |
A |
9: 107,959,748 (GRCm39) |
G297D |
probably damaging |
Het |
Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
Nbr1 |
G |
A |
11: 101,457,026 (GRCm39) |
R163Q |
probably damaging |
Het |
Nlrp4f |
A |
G |
13: 65,342,143 (GRCm39) |
F501L |
probably damaging |
Het |
Nup133 |
A |
C |
8: 124,649,153 (GRCm39) |
I563S |
probably benign |
Het |
Oacyl |
T |
G |
18: 65,858,369 (GRCm39) |
|
probably null |
Het |
Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
Plxna2 |
C |
T |
1: 194,326,203 (GRCm39) |
R46C |
possibly damaging |
Het |
Ppp1r26 |
T |
A |
2: 28,340,749 (GRCm39) |
D126E |
probably damaging |
Het |
Prl6a1 |
A |
T |
13: 27,500,282 (GRCm39) |
R84S |
possibly damaging |
Het |
Ptprz1 |
C |
T |
6: 23,001,746 (GRCm39) |
Q1279* |
probably null |
Het |
Ptx4 |
C |
T |
17: 25,344,166 (GRCm39) |
T472I |
possibly damaging |
Het |
Rabgap1l |
A |
G |
1: 160,528,358 (GRCm39) |
V416A |
probably damaging |
Het |
Rbfox2 |
A |
T |
15: 76,989,834 (GRCm39) |
D231E |
probably benign |
Het |
Reln |
A |
T |
5: 22,432,636 (GRCm39) |
F121L |
possibly damaging |
Het |
Rfx7 |
G |
A |
9: 72,524,054 (GRCm39) |
V415I |
probably benign |
Het |
Scaf4 |
A |
T |
16: 90,026,964 (GRCm39) |
M951K |
unknown |
Het |
Sdf4 |
T |
C |
4: 156,080,977 (GRCm39) |
|
probably null |
Het |
Sec16a |
T |
C |
2: 26,331,863 (GRCm39) |
T51A |
probably damaging |
Het |
Sema3a |
A |
G |
5: 13,607,008 (GRCm39) |
N281S |
probably damaging |
Het |
Snai2 |
G |
A |
16: 14,524,754 (GRCm39) |
V87I |
possibly damaging |
Het |
Spata31f1e |
T |
C |
4: 42,791,357 (GRCm39) |
E925G |
probably damaging |
Het |
Synj2 |
T |
A |
17: 6,040,514 (GRCm39) |
S197T |
possibly damaging |
Het |
Syt6 |
A |
T |
3: 103,495,018 (GRCm39) |
M328L |
probably benign |
Het |
Tdrd12 |
A |
G |
7: 35,177,516 (GRCm39) |
V946A |
unknown |
Het |
Trat1 |
A |
T |
16: 48,574,657 (GRCm39) |
|
probably null |
Het |
Vmn1r75 |
T |
A |
7: 11,614,997 (GRCm39) |
I243K |
possibly damaging |
Het |
Vmn2r83 |
G |
A |
10: 79,327,771 (GRCm39) |
C793Y |
probably damaging |
Het |
Wnt9a |
G |
A |
11: 59,219,583 (GRCm39) |
G203D |
probably damaging |
Het |
Xrn2 |
T |
C |
2: 146,871,676 (GRCm39) |
I366T |
probably damaging |
Het |
Zfp280d |
A |
G |
9: 72,269,224 (GRCm39) |
D787G |
possibly damaging |
Het |
Zfp706 |
T |
C |
15: 37,002,169 (GRCm39) |
T53A |
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 |
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 |
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'- GCCACATTACTCCCACTGTG -3'
(R):5'- AATGACATTCCAGAGAGCTGAG -3'
Sequencing Primer
(F):5'- CATTACTCCCACTGTGAATTATAGGG -3'
(R):5'- CATTCCAGAGAGCTGAGTGTAAC -3'
|
Posted On |
2019-10-17 |