Incidental Mutation 'PIT4812001:Gria4'
| ID |
556914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gria4
|
| Ensembl Gene |
ENSMUSG00000025892 |
| Gene Name |
glutamate receptor, ionotropic, AMPA4 (alpha 4) |
| Synonyms |
Glur-4, spkw1, Gluralpha4, Glur4 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.690)
|
| Stock # |
PIT4812001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
4417896-4796234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 4427128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 771
(A771S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027020]
[ENSMUST00000063508]
[ENSMUST00000212533]
|
| AlphaFold |
Q9Z2W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027020
|
| SMART Domains |
Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
| 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: A771S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: A771S
| 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: ENSMUST00000212533
|
| Coding Region Coverage |
- 1x: 93.8%
- 3x: 91.0%
- 10x: 85.3%
- 20x: 73.0%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
C |
18: 6,630,053 (GRCm39) |
S252P |
possibly damaging |
Het |
| 4933409G03Rik |
G |
A |
2: 68,419,292 (GRCm39) |
V14I |
probably benign |
Het |
| Adgrf5 |
T |
G |
17: 43,761,260 (GRCm39) |
V985G |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,762,197 (GRCm39) |
Y542* |
probably null |
Het |
| Atp13a3 |
T |
C |
16: 30,181,396 (GRCm39) |
T75A |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,792,702 (GRCm39) |
F1675L |
probably benign |
Het |
| Atrnl1 |
A |
G |
19: 57,720,055 (GRCm39) |
I1082V |
probably benign |
Het |
| Clip1 |
T |
A |
5: 123,768,738 (GRCm39) |
R620S |
probably benign |
Het |
| Cped1 |
T |
C |
6: 22,122,293 (GRCm39) |
F391S |
probably benign |
Het |
| Cracr2a |
T |
C |
6: 127,602,833 (GRCm39) |
L230P |
probably damaging |
Het |
| Dctn1 |
T |
A |
6: 83,176,744 (GRCm39) |
V1266E |
possibly damaging |
Het |
| Dlg1 |
T |
A |
16: 31,665,703 (GRCm39) |
F687I |
probably benign |
Het |
| Dnah8 |
C |
A |
17: 30,927,419 (GRCm39) |
D1358E |
probably benign |
Het |
| Dnajc11 |
A |
G |
4: 152,037,346 (GRCm39) |
R84G |
probably benign |
Het |
| Dnajc14 |
C |
A |
10: 128,642,552 (GRCm39) |
T158N |
probably damaging |
Het |
| Dscc1 |
A |
G |
15: 54,945,657 (GRCm39) |
L346P |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,990,805 (GRCm39) |
I71V |
probably null |
Het |
| Erbb3 |
T |
A |
10: 128,410,248 (GRCm39) |
Q670L |
possibly damaging |
Het |
| Ercc4 |
G |
A |
16: 12,962,311 (GRCm39) |
E652K |
probably benign |
Het |
| Ercc6l2 |
T |
A |
13: 64,006,071 (GRCm39) |
V591D |
possibly damaging |
Het |
| Fam3c |
C |
T |
6: 22,321,369 (GRCm39) |
G134E |
probably damaging |
Het |
| Frmd5 |
A |
G |
2: 121,416,927 (GRCm39) |
V70A |
probably benign |
Het |
| Gjd3 |
A |
T |
11: 102,691,807 (GRCm39) |
Y65* |
probably null |
Het |
| Gm3033 |
A |
C |
14: 3,848,891 (GRCm38) |
L137F |
|
Het |
| Hc |
A |
G |
2: 34,919,464 (GRCm39) |
L674P |
probably benign |
Het |
| Hjurp |
CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT |
C |
1: 88,193,999 (GRCm39) |
|
probably benign |
Het |
| Hycc2 |
T |
G |
1: 58,587,862 (GRCm39) |
D117A |
possibly damaging |
Het |
| Inpp5f |
A |
T |
7: 128,294,032 (GRCm39) |
Y696F |
probably benign |
Het |
| Itga11 |
C |
A |
9: 62,639,475 (GRCm39) |
Q157K |
probably damaging |
Het |
| Itgb5 |
G |
T |
16: 33,740,357 (GRCm39) |
C489F |
probably damaging |
Het |
| Klhl38 |
C |
T |
15: 58,185,938 (GRCm39) |
G264S |
probably benign |
Het |
| Krt78 |
C |
T |
15: 101,856,504 (GRCm39) |
V436M |
probably damaging |
Het |
| Mia2 |
A |
T |
12: 59,148,365 (GRCm39) |
D75V |
possibly damaging |
Het |
| Mphosph6 |
T |
A |
8: 118,525,888 (GRCm39) |
Q20L |
probably damaging |
Het |
| Ogfr |
C |
T |
2: 180,237,304 (GRCm39) |
P630S |
possibly damaging |
Het |
| Or2c1 |
A |
T |
16: 3,657,394 (GRCm39) |
K186* |
probably null |
Het |
| Or4c11 |
G |
A |
2: 88,695,314 (GRCm39) |
V122M |
probably benign |
Het |
| Or5an9 |
T |
G |
19: 12,187,617 (GRCm39) |
I229S |
probably damaging |
Het |
| Pbx3 |
T |
C |
2: 34,114,631 (GRCm39) |
E101G |
probably damaging |
Het |
| Pcca |
T |
A |
14: 123,027,794 (GRCm39) |
N587K |
probably benign |
Het |
| Pdia3 |
G |
T |
2: 121,264,011 (GRCm39) |
A287S |
probably damaging |
Het |
| Pfas |
T |
A |
11: 68,880,862 (GRCm39) |
D209V |
|
Het |
| Pramel29 |
A |
G |
4: 143,936,086 (GRCm39) |
I56T |
probably benign |
Het |
| Pter |
A |
T |
2: 12,985,179 (GRCm39) |
I170F |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,502,428 (GRCm39) |
V830E |
probably damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,318,540 (GRCm39) |
D783G |
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,266,315 (GRCm39) |
V446A |
possibly damaging |
Het |
| Selp |
A |
G |
1: 163,959,832 (GRCm39) |
N363D |
probably benign |
Het |
| Six2 |
C |
A |
17: 85,992,729 (GRCm39) |
S258I |
possibly damaging |
Het |
| Smc1b |
A |
G |
15: 84,953,852 (GRCm39) |
V1139A |
possibly damaging |
Het |
| Sp1 |
A |
G |
15: 102,316,843 (GRCm39) |
T121A |
possibly damaging |
Het |
| Sucla2 |
A |
T |
14: 73,816,889 (GRCm39) |
I210L |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,176,980 (GRCm39) |
L339P |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,973,635 (GRCm39) |
D794E |
probably benign |
Het |
| Usp32 |
C |
T |
11: 84,900,900 (GRCm39) |
V1107I |
probably damaging |
Het |
| Vmn1r195 |
T |
C |
13: 22,463,033 (GRCm39) |
Y168H |
probably benign |
Het |
| Vmn1r223 |
A |
G |
13: 23,434,060 (GRCm39) |
N218S |
probably damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,800,447 (GRCm39) |
S632C |
probably damaging |
Het |
| Vwa3a |
A |
T |
7: 120,375,356 (GRCm39) |
K390I |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,251,661 (GRCm39) |
C80* |
probably null |
Het |
| Zic1 |
A |
T |
9: 91,246,394 (GRCm39) |
I226N |
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 |
|
|
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 |
|
|
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'- TAAGTTAGGTAATGGCTAGGTAGAC -3'
(R):5'- GCAAGCCCCAGTTTTATGTCTG -3'
Sequencing Primer
(F):5'- TGGCTAGGTAGACAGAAAAGTTC -3'
(R):5'- GTCTGATTCTAAACCTGAGCCTACAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation