Incidental Mutation 'R8888:Gria4'
ID |
677494 |
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 |
068692-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.690)
|
Stock # |
R8888 (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 G
at 4664951 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 102
(S102P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066980
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027020]
[ENSMUST00000063508]
[ENSMUST00000163309]
[ENSMUST00000212533]
|
AlphaFold |
Q9Z2W8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027020
AA Change: S102P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027020 Gene: ENSMUSG00000025892 AA Change: S102P
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: S102P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000066980 Gene: ENSMUSG00000025892 AA Change: S102P
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: S102P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129316 Gene: ENSMUSG00000025892 AA Change: S102P
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 damaging
Transcript: ENSMUST00000212533
AA Change: S102P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (78/78) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1a1 |
A |
G |
4: 116,498,260 (GRCm39) |
L95P |
probably damaging |
Het |
Amigo2 |
G |
T |
15: 97,143,389 (GRCm39) |
N344K |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,621,014 (GRCm39) |
D946G |
possibly damaging |
Het |
Ankrd12 |
T |
C |
17: 66,338,568 (GRCm39) |
|
probably null |
Het |
Atp8b5 |
A |
G |
4: 43,304,687 (GRCm39) |
N66S |
|
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Birc6 |
G |
A |
17: 74,835,533 (GRCm39) |
S24N |
probably null |
Het |
Bzw2 |
A |
T |
12: 36,173,982 (GRCm39) |
C97* |
probably null |
Het |
Capn12 |
T |
A |
7: 28,585,949 (GRCm39) |
|
probably benign |
Het |
Cdh1 |
T |
A |
8: 107,330,971 (GRCm39) |
F34Y |
probably damaging |
Het |
Cdh5 |
T |
C |
8: 104,852,092 (GRCm39) |
I69T |
possibly damaging |
Het |
Celsr2 |
G |
A |
3: 108,320,880 (GRCm39) |
T644I |
possibly damaging |
Het |
Cep85l |
A |
T |
10: 53,224,911 (GRCm39) |
L226Q |
possibly damaging |
Het |
Clasp2 |
T |
A |
9: 113,732,936 (GRCm39) |
M924K |
possibly damaging |
Het |
Col3a1 |
G |
A |
1: 45,379,139 (GRCm39) |
A850T |
unknown |
Het |
Cped1 |
C |
T |
6: 22,016,962 (GRCm39) |
P104S |
possibly damaging |
Het |
Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
Cyp2c69 |
T |
C |
19: 39,869,910 (GRCm39) |
D104G |
possibly damaging |
Het |
Daw1 |
T |
A |
1: 83,187,011 (GRCm39) |
C274S |
probably damaging |
Het |
Dmtn |
T |
C |
14: 70,850,144 (GRCm39) |
T267A |
probably benign |
Het |
Dock5 |
A |
G |
14: 68,055,112 (GRCm39) |
Y585H |
possibly damaging |
Het |
Dop1a |
A |
G |
9: 86,403,587 (GRCm39) |
I132V |
probably benign |
Het |
Dpysl5 |
C |
T |
5: 30,902,687 (GRCm39) |
R40C |
probably benign |
Het |
Dsg2 |
T |
G |
18: 20,723,126 (GRCm39) |
V384G |
probably damaging |
Het |
Elmo1 |
C |
T |
13: 20,748,630 (GRCm39) |
L492F |
probably damaging |
Het |
Epg5 |
C |
A |
18: 78,056,086 (GRCm39) |
D1753E |
possibly damaging |
Het |
Ext1 |
T |
C |
15: 52,955,723 (GRCm39) |
Y458C |
probably damaging |
Het |
Folr2 |
C |
T |
7: 101,489,408 (GRCm39) |
V244M |
unknown |
Het |
Frmd6 |
C |
A |
12: 70,940,646 (GRCm39) |
H430Q |
possibly damaging |
Het |
Galnt18 |
T |
C |
7: 111,378,709 (GRCm39) |
I16V |
possibly damaging |
Het |
Gm10036 |
C |
A |
18: 15,966,207 (GRCm39) |
Y119* |
probably null |
Het |
Hc |
A |
T |
2: 34,890,861 (GRCm39) |
N1318K |
probably benign |
Het |
Htr2a |
C |
T |
14: 74,882,617 (GRCm39) |
T201I |
possibly damaging |
Het |
Ifitm1 |
T |
C |
7: 140,549,499 (GRCm39) |
L94P |
probably damaging |
Het |
Iqca1l |
T |
C |
5: 24,755,628 (GRCm39) |
D298G |
probably benign |
Het |
Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
Kank4 |
C |
T |
4: 98,653,747 (GRCm39) |
V894I |
possibly damaging |
Het |
Kcnip2 |
T |
A |
19: 45,785,100 (GRCm39) |
|
probably benign |
Het |
Klhl29 |
A |
T |
12: 5,187,542 (GRCm39) |
L274H |
possibly damaging |
Het |
Lamb1 |
A |
G |
12: 31,352,953 (GRCm39) |
T885A |
possibly damaging |
Het |
Ldc1 |
T |
C |
4: 130,105,223 (GRCm39) |
K316E |
probably benign |
Het |
Lipi |
A |
T |
16: 75,352,710 (GRCm39) |
L376I |
probably benign |
Het |
Lrrc37 |
T |
A |
11: 103,509,656 (GRCm39) |
T771S |
unknown |
Het |
Malrd1 |
A |
T |
2: 15,850,038 (GRCm39) |
N1219I |
unknown |
Het |
Mrc1 |
A |
C |
2: 14,312,760 (GRCm39) |
N894T |
probably damaging |
Het |
Mrpl35 |
C |
T |
6: 71,793,271 (GRCm39) |
A127T |
possibly damaging |
Het |
Naip2 |
T |
C |
13: 100,325,644 (GRCm39) |
H88R |
probably benign |
Het |
Nek5 |
C |
T |
8: 22,580,495 (GRCm39) |
|
probably null |
Het |
Nlrc5 |
G |
A |
8: 95,252,118 (GRCm39) |
V1880I |
probably benign |
Het |
Noc3l |
T |
A |
19: 38,798,751 (GRCm39) |
K282N |
probably damaging |
Het |
Nwd2 |
T |
C |
5: 63,963,241 (GRCm39) |
Y942H |
probably damaging |
Het |
Or10ag2 |
T |
C |
2: 87,248,659 (GRCm39) |
V87A |
probably benign |
Het |
Or4f62 |
G |
A |
2: 111,986,974 (GRCm39) |
R226H |
probably benign |
Het |
Or52d1 |
T |
A |
7: 103,756,302 (GRCm39) |
I272N |
probably damaging |
Het |
Osbpl9 |
C |
A |
4: 108,930,333 (GRCm39) |
A221S |
probably benign |
Het |
Paip1 |
T |
C |
13: 119,566,801 (GRCm39) |
L45S |
probably benign |
Het |
Pccb |
A |
T |
9: 100,905,305 (GRCm39) |
|
probably benign |
Het |
Pgap3 |
A |
G |
11: 98,281,602 (GRCm39) |
F199L |
possibly damaging |
Het |
Pik3c2g |
A |
T |
6: 139,676,092 (GRCm39) |
K79* |
probably null |
Het |
Pou3f1 |
C |
G |
4: 124,552,152 (GRCm39) |
A218G |
possibly damaging |
Het |
Ptk2b |
T |
A |
14: 66,412,242 (GRCm39) |
N383I |
probably benign |
Het |
Rad52 |
C |
T |
6: 119,890,041 (GRCm39) |
R56C |
probably damaging |
Het |
Rdh7 |
A |
T |
10: 127,724,430 (GRCm39) |
F18Y |
probably benign |
Het |
Scart2 |
C |
T |
7: 139,841,532 (GRCm39) |
P279S |
possibly damaging |
Het |
Septin5 |
A |
G |
16: 18,441,861 (GRCm39) |
M315T |
possibly damaging |
Het |
Slc27a6 |
A |
G |
18: 58,715,306 (GRCm39) |
Y303C |
probably damaging |
Het |
Slc7a7 |
T |
A |
14: 54,607,293 (GRCm39) |
M495L |
probably benign |
Het |
Sntg1 |
T |
A |
1: 8,748,074 (GRCm39) |
|
probably null |
Het |
Spdye4a |
T |
G |
5: 143,211,418 (GRCm39) |
S49R |
probably benign |
Het |
Spred2 |
T |
A |
11: 19,951,019 (GRCm39) |
I72N |
probably benign |
Het |
Stox1 |
A |
T |
10: 62,495,386 (GRCm39) |
H962Q |
probably benign |
Het |
Susd2 |
G |
T |
10: 75,475,452 (GRCm39) |
A484D |
possibly damaging |
Het |
Syt14 |
A |
G |
1: 192,579,866 (GRCm39) |
S473P |
probably damaging |
Het |
Tpx2 |
T |
C |
2: 152,724,255 (GRCm39) |
Y344H |
probably damaging |
Het |
Ttc17 |
T |
C |
2: 94,157,049 (GRCm39) |
N411S |
probably benign |
Het |
Ttf2 |
A |
T |
3: 100,870,028 (GRCm39) |
F348L |
probably benign |
Het |
Ttn |
A |
T |
2: 76,663,650 (GRCm39) |
V11675E |
unknown |
Het |
Usp2 |
G |
T |
9: 43,986,894 (GRCm39) |
R64L |
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 |
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 |
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'- TAAGACTTACCCCTGTCTGTATCATAC -3'
(R):5'- GCTGTCAGCACAAACTCAAG -3'
Sequencing Primer
(F):5'- TACAGGAAGACAAAACAATTCCATTC -3'
(R):5'- GCAGTTTCACAATGGGGT -3'
|
Posted On |
2021-08-02 |