Incidental Mutation 'R5202:Gria4'
| ID |
400903 |
| 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 |
042777-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.627)
|
| Stock # |
R5202 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
4417896-4796234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4424330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 845
(K845R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027020]
[ENSMUST00000063508]
[ENSMUST00000212533]
|
| AlphaFold |
Q9Z2W8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027020
AA Change: K845R
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: K845R
| 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: K845R
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: K845R
| 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
AA Change: K845R
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
T |
2: 68,562,308 (GRCm39) |
M312L |
probably benign |
Het |
| Adam7 |
C |
A |
14: 68,745,305 (GRCm39) |
D640Y |
possibly damaging |
Het |
| Alcam |
T |
C |
16: 52,094,599 (GRCm39) |
Y384C |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,063,737 (GRCm39) |
E289G |
probably damaging |
Het |
| Arhgap15 |
A |
T |
2: 43,953,869 (GRCm39) |
R198S |
probably benign |
Het |
| Bbs2 |
G |
T |
8: 94,819,042 (GRCm39) |
S109* |
probably null |
Het |
| Bfsp1 |
T |
C |
2: 143,668,891 (GRCm39) |
S569G |
probably benign |
Het |
| Chst9 |
A |
T |
18: 15,586,296 (GRCm39) |
I89N |
probably benign |
Het |
| Cntln |
A |
C |
4: 84,889,466 (GRCm39) |
E316D |
probably benign |
Het |
| Csde1 |
T |
G |
3: 102,947,250 (GRCm39) |
D67E |
probably damaging |
Het |
| Csf2rb |
T |
G |
15: 78,233,257 (GRCm39) |
S855A |
possibly damaging |
Het |
| Cyp4a10 |
T |
A |
4: 115,389,812 (GRCm39) |
D472E |
probably damaging |
Het |
| Cyp4f18 |
C |
A |
8: 72,762,940 (GRCm39) |
R49L |
probably benign |
Het |
| Daam1 |
G |
T |
12: 71,991,048 (GRCm39) |
V221L |
unknown |
Het |
| Dbr1 |
T |
G |
9: 99,465,944 (GRCm39) |
D507E |
probably benign |
Het |
| Dhrs7c |
A |
G |
11: 67,706,627 (GRCm39) |
M188V |
probably benign |
Het |
| Dicer1 |
A |
T |
12: 104,660,990 (GRCm39) |
L1688* |
probably null |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| E2f3 |
G |
A |
13: 30,102,619 (GRCm39) |
T91I |
probably damaging |
Het |
| Etaa1 |
A |
T |
11: 17,897,853 (GRCm39) |
V157E |
probably damaging |
Het |
| Foxp2 |
A |
T |
6: 15,394,770 (GRCm39) |
T157S |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,458,767 (GRCm39) |
V2034A |
probably benign |
Het |
| Fzd10 |
T |
C |
5: 128,679,180 (GRCm39) |
V300A |
possibly damaging |
Het |
| Gbf1 |
A |
T |
19: 46,256,893 (GRCm39) |
M778L |
probably benign |
Het |
| Gm17472 |
T |
A |
6: 42,958,068 (GRCm39) |
N112K |
probably benign |
Het |
| Hspa4l |
T |
A |
3: 40,736,001 (GRCm39) |
S541T |
probably benign |
Het |
| Igkv4-68 |
G |
A |
6: 69,281,926 (GRCm39) |
R82C |
probably damaging |
Het |
| Itgb1 |
A |
T |
8: 129,446,491 (GRCm39) |
I383F |
probably damaging |
Het |
| Kcnk12 |
T |
A |
17: 88,054,033 (GRCm39) |
K210* |
probably null |
Het |
| Limch1 |
C |
G |
5: 67,150,516 (GRCm39) |
D163E |
probably damaging |
Het |
| Mbd4 |
A |
T |
6: 115,826,363 (GRCm39) |
D188E |
probably damaging |
Het |
| Myh9 |
C |
T |
15: 77,665,310 (GRCm39) |
|
probably null |
Het |
| Nbeal2 |
T |
C |
9: 110,473,734 (GRCm39) |
E28G |
probably damaging |
Het |
| Nfatc4 |
A |
G |
14: 56,064,116 (GRCm39) |
E201G |
probably damaging |
Het |
| Nrap |
G |
A |
19: 56,323,583 (GRCm39) |
H1330Y |
probably damaging |
Het |
| Nudt14 |
A |
G |
12: 112,898,648 (GRCm39) |
S151P |
probably damaging |
Het |
| Or14c45 |
C |
A |
7: 86,176,324 (GRCm39) |
R120S |
probably damaging |
Het |
| Or2ag2 |
T |
A |
7: 106,485,803 (GRCm39) |
T74S |
possibly damaging |
Het |
| Or7e165 |
T |
A |
9: 19,694,514 (GRCm39) |
F28L |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Paqr9 |
A |
G |
9: 95,442,163 (GRCm39) |
D51G |
probably damaging |
Het |
| Pcgf5 |
T |
A |
19: 36,414,583 (GRCm39) |
F80I |
probably damaging |
Het |
| Pkhd1 |
T |
G |
1: 20,617,565 (GRCm39) |
S1007R |
probably benign |
Het |
| Rab30 |
T |
C |
7: 92,485,121 (GRCm39) |
Y196H |
probably benign |
Het |
| Setd2 |
A |
T |
9: 110,380,298 (GRCm39) |
D1371V |
probably damaging |
Het |
| Slc48a1 |
A |
T |
15: 97,688,581 (GRCm39) |
I140F |
possibly damaging |
Het |
| Sorl1 |
A |
G |
9: 41,944,879 (GRCm39) |
V882A |
probably benign |
Het |
| Sptbn2 |
G |
T |
19: 4,774,212 (GRCm39) |
G88W |
probably damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,189,455 (GRCm39) |
V427A |
possibly damaging |
Het |
| Tekt2 |
T |
C |
4: 126,218,463 (GRCm39) |
D69G |
probably benign |
Het |
| Tie1 |
C |
T |
4: 118,337,707 (GRCm39) |
V463I |
probably benign |
Het |
| Tmem150c |
G |
T |
5: 100,227,813 (GRCm39) |
H217N |
probably damaging |
Het |
| Tnks2 |
G |
A |
19: 36,866,252 (GRCm39) |
G1080R |
probably damaging |
Het |
| Ttll4 |
G |
A |
1: 74,727,011 (GRCm39) |
|
probably null |
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 |
|
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'- ACCGTGTTCACAGGATGCATC -3'
(R):5'- CCTGCATCAGCGACTTATACC -3'
Sequencing Primer
(F):5'- GATGCATCCCCCGCTCAC -3'
(R):5'- GGCTATTTGGATATTATGCATCCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation