Incidental Mutation 'R7475:Gria4'
ID |
579423 |
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 |
045549-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.690)
|
Stock # |
R7475 (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 G
at 4513330 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 260
(T260P)
|
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: T260P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027020 Gene: ENSMUSG00000025892 AA Change: T260P
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: T260P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000066980 Gene: ENSMUSG00000025892 AA Change: T260P
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: T260P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129316 Gene: ENSMUSG00000025892 AA Change: T260P
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: T260P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (77/78) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
G |
T |
16: 20,218,739 (GRCm39) |
N214K |
probably benign |
Het |
Abcf1 |
A |
G |
17: 36,274,459 (GRCm39) |
|
probably null |
Het |
Agxt2 |
A |
T |
15: 10,409,623 (GRCm39) |
M508L |
probably benign |
Het |
Akr1c21 |
A |
T |
13: 4,626,318 (GRCm39) |
Y114F |
probably benign |
Het |
Amz1 |
T |
C |
5: 140,729,941 (GRCm39) |
|
probably null |
Het |
Ank1 |
G |
T |
8: 23,622,646 (GRCm39) |
A1732S |
probably benign |
Het |
Atg16l1 |
T |
C |
1: 87,687,805 (GRCm39) |
S50P |
possibly damaging |
Het |
AW551984 |
A |
G |
9: 39,509,236 (GRCm39) |
S302P |
probably damaging |
Het |
Ccn6 |
T |
A |
10: 39,034,296 (GRCm39) |
Y102F |
probably damaging |
Het |
Ces3a |
T |
A |
8: 105,780,322 (GRCm39) |
|
probably null |
Het |
Dedd |
C |
A |
1: 171,167,881 (GRCm39) |
P185Q |
probably benign |
Het |
Fam186a |
A |
T |
15: 99,845,395 (GRCm39) |
V283E |
unknown |
Het |
Fat2 |
C |
A |
11: 55,194,479 (GRCm39) |
V1187F |
probably benign |
Het |
Fbxw11 |
T |
C |
11: 32,661,999 (GRCm39) |
|
probably null |
Het |
Fcgbp |
C |
T |
7: 27,802,401 (GRCm39) |
T1443I |
probably damaging |
Het |
Foxj2 |
A |
G |
6: 122,814,801 (GRCm39) |
D279G |
probably benign |
Het |
Gbp5 |
A |
G |
3: 142,207,122 (GRCm39) |
D97G |
probably damaging |
Het |
Gm49368 |
A |
T |
7: 127,707,154 (GRCm39) |
T661S |
possibly damaging |
Het |
Gtf2ird2 |
T |
A |
5: 134,230,267 (GRCm39) |
D195E |
possibly damaging |
Het |
Hectd4 |
T |
A |
5: 121,496,196 (GRCm39) |
|
probably null |
Het |
Ifngr2 |
G |
A |
16: 91,354,797 (GRCm39) |
C32Y |
unknown |
Het |
Ikzf5 |
A |
T |
7: 130,993,788 (GRCm39) |
C280S |
probably benign |
Het |
Ints9 |
G |
T |
14: 65,263,914 (GRCm39) |
E395D |
probably null |
Het |
Isoc2b |
T |
C |
7: 4,854,084 (GRCm39) |
D96G |
probably benign |
Het |
Jmjd1c |
T |
G |
10: 67,061,092 (GRCm39) |
S967R |
probably benign |
Het |
Kcnj3 |
A |
T |
2: 55,327,338 (GRCm39) |
K42N |
probably benign |
Het |
Kiz |
T |
C |
2: 146,733,006 (GRCm39) |
V394A |
possibly damaging |
Het |
Knl1 |
A |
T |
2: 118,918,027 (GRCm39) |
H1795L |
probably damaging |
Het |
Lmntd2 |
A |
G |
7: 140,790,602 (GRCm39) |
|
probably null |
Het |
Loxhd1 |
C |
A |
18: 77,500,001 (GRCm39) |
D1690E |
possibly damaging |
Het |
Lrp1b |
T |
C |
2: 41,234,588 (GRCm39) |
D1121G |
|
Het |
Map3k2 |
T |
C |
18: 32,333,015 (GRCm39) |
V63A |
possibly damaging |
Het |
Mcc |
G |
T |
18: 44,609,303 (GRCm39) |
A499D |
probably damaging |
Het |
Mcpt9 |
T |
A |
14: 56,264,400 (GRCm39) |
I232F |
probably damaging |
Het |
Meltf |
A |
G |
16: 31,700,756 (GRCm39) |
K92R |
probably benign |
Het |
Mff |
T |
A |
1: 82,723,159 (GRCm39) |
|
probably null |
Het |
Mrgpra3 |
T |
A |
7: 47,239,695 (GRCm39) |
Y77F |
probably damaging |
Het |
Mylk |
G |
A |
16: 34,734,446 (GRCm39) |
|
probably null |
Het |
Ndufv2 |
A |
G |
17: 66,394,532 (GRCm39) |
V111A |
possibly damaging |
Het |
Nkd2 |
T |
C |
13: 73,973,861 (GRCm39) |
E99G |
probably damaging |
Het |
Nlk |
C |
A |
11: 78,474,225 (GRCm39) |
G358V |
probably damaging |
Het |
Nnmt |
A |
T |
9: 48,503,532 (GRCm39) |
C165S |
probably damaging |
Het |
Nxpe4 |
T |
A |
9: 48,304,640 (GRCm39) |
C242* |
probably null |
Het |
Oas1b |
A |
T |
5: 120,955,705 (GRCm39) |
N162I |
probably damaging |
Het |
Or4s2 |
A |
G |
2: 88,473,554 (GRCm39) |
I148V |
probably benign |
Het |
Otog |
A |
G |
7: 45,916,700 (GRCm39) |
N879S |
probably damaging |
Het |
Pcsk7 |
T |
A |
9: 45,838,923 (GRCm39) |
Y612N |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pgbd5 |
T |
C |
8: 125,160,750 (GRCm39) |
D39G |
probably benign |
Het |
Pkhd1l1 |
C |
T |
15: 44,368,581 (GRCm39) |
Q800* |
probably null |
Het |
Pkn3 |
T |
C |
2: 29,977,122 (GRCm39) |
S621P |
probably benign |
Het |
Polr3c |
T |
C |
3: 96,622,501 (GRCm39) |
I385V |
probably benign |
Het |
Ppp1r21 |
G |
T |
17: 88,863,031 (GRCm39) |
G257W |
probably benign |
Het |
Prkn |
A |
G |
17: 11,653,501 (GRCm39) |
D199G |
probably benign |
Het |
Pxylp1 |
C |
T |
9: 96,738,420 (GRCm39) |
|
probably null |
Het |
Rasgrp1 |
T |
C |
2: 117,116,589 (GRCm39) |
T613A |
probably benign |
Het |
Robo3 |
C |
T |
9: 37,336,674 (GRCm39) |
V387I |
probably benign |
Het |
Rxfp2 |
T |
A |
5: 149,973,046 (GRCm39) |
Y174N |
possibly damaging |
Het |
Sec24a |
T |
C |
11: 51,604,379 (GRCm39) |
M746V |
probably damaging |
Het |
Sema4f |
T |
A |
6: 82,891,355 (GRCm39) |
E571D |
possibly damaging |
Het |
Septin3 |
T |
C |
15: 82,170,657 (GRCm39) |
V217A |
probably benign |
Het |
Serpinb1b |
A |
C |
13: 33,277,548 (GRCm39) |
K260N |
probably benign |
Het |
Sin3b |
A |
G |
8: 73,476,500 (GRCm39) |
T645A |
possibly damaging |
Het |
Sobp |
C |
T |
10: 42,897,830 (GRCm39) |
R585Q |
probably damaging |
Het |
Specc1l |
T |
A |
10: 75,082,281 (GRCm39) |
L559Q |
possibly damaging |
Het |
Srxn1 |
C |
T |
2: 151,947,573 (GRCm39) |
|
probably benign |
Het |
Sspo |
G |
A |
6: 48,432,794 (GRCm39) |
R890Q |
probably benign |
Het |
Stard9 |
A |
G |
2: 120,518,591 (GRCm39) |
D505G |
probably damaging |
Het |
Tjp1 |
A |
T |
7: 64,972,087 (GRCm39) |
I653K |
probably damaging |
Het |
Tnks |
C |
T |
8: 35,298,866 (GRCm39) |
E1296K |
probably damaging |
Het |
Ttbk2 |
A |
T |
2: 120,579,121 (GRCm39) |
I667N |
probably benign |
Het |
Usp24 |
T |
C |
4: 106,199,550 (GRCm39) |
S165P |
possibly damaging |
Het |
Usp46 |
T |
A |
5: 74,189,598 (GRCm39) |
K109* |
probably null |
Het |
Vmn1r191 |
A |
G |
13: 22,362,942 (GRCm39) |
C271R |
probably benign |
Het |
Zfp592 |
T |
C |
7: 80,673,200 (GRCm39) |
S55P |
probably damaging |
Het |
Zmynd15 |
T |
C |
11: 70,351,867 (GRCm39) |
S158P |
probably benign |
Het |
Zscan22 |
T |
G |
7: 12,640,664 (GRCm39) |
C303G |
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 |
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'- TGGCTTGGCAGTTAAGAAAAC -3'
(R):5'- TCTTCTTAGATCAACAGGCATGG -3'
Sequencing Primer
(F):5'- GCCATGCGGTAGCTTATAAGC -3'
(R):5'- ACAGGCATGGAATTATACAAACTC -3'
|
Posted On |
2019-10-07 |