Incidental Mutation 'R5109:Gria4'
| ID |
393747 |
| 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 |
042697-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.690)
|
| Stock # |
R5109 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
4417896-4796234 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 4472168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 440
(N440K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027020]
[ENSMUST00000063508]
[ENSMUST00000212533]
|
| AlphaFold |
Q9Z2W8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027020
AA Change: N440K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: N440K
| 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: N440K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: N440K
| 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: ENSMUST00000212533
AA Change: N440K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6953 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
95% (78/82) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd17 |
T |
C |
5: 90,391,395 (GRCm39) |
S1841G |
possibly damaging |
Het |
| Anxa10 |
T |
C |
8: 62,516,093 (GRCm39) |
E193G |
possibly damaging |
Het |
| Ap3d1 |
T |
C |
10: 80,545,284 (GRCm39) |
S1056G |
probably benign |
Het |
| Apbb1 |
T |
C |
7: 105,214,242 (GRCm39) |
N62D |
probably damaging |
Het |
| Apobec2 |
A |
T |
17: 48,730,022 (GRCm39) |
Y215N |
probably damaging |
Het |
| Apobec2 |
T |
A |
17: 48,730,024 (GRCm39) |
Y214F |
probably damaging |
Het |
| Appl2 |
A |
T |
10: 83,436,871 (GRCm39) |
V630E |
probably benign |
Het |
| Bud23 |
T |
C |
5: 135,089,877 (GRCm39) |
|
probably benign |
Het |
| Cacna1b |
A |
T |
2: 24,580,797 (GRCm39) |
M683K |
possibly damaging |
Het |
| Cbfa2t2 |
T |
A |
2: 154,373,293 (GRCm39) |
D187E |
probably damaging |
Het |
| Cfap54 |
G |
T |
10: 92,773,753 (GRCm39) |
F96L |
probably benign |
Het |
| Cimap1a |
A |
T |
7: 140,429,461 (GRCm39) |
S197C |
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,906,295 (GRCm39) |
|
probably benign |
Het |
| Crocc |
C |
T |
4: 140,755,722 (GRCm39) |
R1102Q |
probably damaging |
Het |
| Dcaf12 |
T |
C |
4: 41,298,329 (GRCm39) |
D273G |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,414,221 (GRCm39) |
T865A |
probably benign |
Het |
| Dhfr |
A |
T |
13: 92,491,788 (GRCm39) |
I8F |
probably damaging |
Het |
| Dnaja2 |
A |
T |
8: 86,279,887 (GRCm39) |
F97L |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Doc2b |
T |
C |
11: 75,667,967 (GRCm39) |
D261G |
probably benign |
Het |
| Ear1 |
A |
G |
14: 44,056,485 (GRCm39) |
Y128H |
probably benign |
Het |
| Elac2 |
T |
A |
11: 64,883,142 (GRCm39) |
I171N |
probably damaging |
Het |
| Entpd3 |
C |
A |
9: 120,395,380 (GRCm39) |
N454K |
possibly damaging |
Het |
| Flrt3 |
A |
G |
2: 140,502,663 (GRCm39) |
S322P |
possibly damaging |
Het |
| Fn1 |
C |
T |
1: 71,688,394 (GRCm39) |
C170Y |
probably damaging |
Het |
| Gabbr1 |
T |
A |
17: 37,382,920 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
T |
G |
14: 51,602,774 (GRCm39) |
S37A |
probably damaging |
Het |
| Gm8775 |
T |
A |
3: 4,277,008 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| H2-T22 |
T |
A |
17: 36,350,113 (GRCm39) |
R334* |
probably null |
Het |
| Ift172 |
T |
C |
5: 31,423,330 (GRCm39) |
D817G |
probably benign |
Het |
| Igkv9-124 |
T |
A |
6: 67,919,348 (GRCm39) |
R21S |
possibly damaging |
Het |
| Itgam |
G |
A |
7: 127,712,390 (GRCm39) |
V846I |
probably benign |
Het |
| Kif11 |
T |
A |
19: 37,373,063 (GRCm39) |
M94K |
possibly damaging |
Het |
| Krtcap2 |
T |
C |
3: 89,154,085 (GRCm39) |
V2A |
probably benign |
Het |
| Lrrc47 |
A |
G |
4: 154,101,933 (GRCm39) |
D400G |
probably damaging |
Het |
| Man2a1 |
T |
A |
17: 65,059,443 (GRCm39) |
V1110E |
probably benign |
Het |
| Mfsd9 |
T |
A |
1: 40,813,365 (GRCm39) |
I317F |
probably damaging |
Het |
| Mindy4 |
A |
T |
6: 55,193,730 (GRCm39) |
|
probably null |
Het |
| Mrpl53 |
A |
G |
6: 83,086,541 (GRCm39) |
T82A |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 69,925,637 (GRCm39) |
K35E |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,515,650 (GRCm39) |
V1717A |
possibly damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,257,070 (GRCm39) |
V143A |
probably damaging |
Het |
| Ndufa9 |
A |
C |
6: 126,809,520 (GRCm39) |
|
probably null |
Het |
| Or10ag60 |
G |
A |
2: 87,438,319 (GRCm39) |
G196R |
possibly damaging |
Het |
| Or10ag60 |
G |
A |
2: 87,437,755 (GRCm39) |
A8T |
possibly damaging |
Het |
| Or12e9 |
A |
G |
2: 87,201,878 (GRCm39) |
M1V |
probably null |
Het |
| Or5k17 |
A |
G |
16: 58,746,422 (GRCm39) |
S171P |
probably benign |
Het |
| Or5p55 |
T |
C |
7: 107,567,104 (GRCm39) |
S167P |
probably benign |
Het |
| Or6c202 |
T |
C |
10: 128,996,106 (GRCm39) |
Y249C |
probably damaging |
Het |
| Or7g28 |
A |
T |
9: 19,272,438 (GRCm39) |
I71N |
probably damaging |
Het |
| Or9g8 |
G |
A |
2: 85,607,668 (GRCm39) |
V247M |
probably damaging |
Het |
| Pde4b |
G |
T |
4: 102,458,741 (GRCm39) |
A466S |
probably damaging |
Het |
| Pfkfb3 |
A |
T |
2: 11,491,162 (GRCm39) |
|
probably benign |
Het |
| Ppp1r21 |
A |
G |
17: 88,866,268 (GRCm39) |
K355E |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,741,095 (GRCm39) |
Y90* |
probably null |
Het |
| Rbms1 |
G |
A |
2: 60,612,284 (GRCm39) |
L161F |
probably damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,702,672 (GRCm39) |
D83G |
probably damaging |
Het |
| Sec16b |
C |
T |
1: 157,392,361 (GRCm39) |
R910* |
probably null |
Het |
| Sema4c |
CTGGGCTT |
C |
1: 36,591,381 (GRCm39) |
|
probably null |
Het |
| Spata31e5 |
T |
C |
1: 28,816,636 (GRCm39) |
I465M |
possibly damaging |
Het |
| Stambp |
A |
G |
6: 83,540,803 (GRCm39) |
|
probably null |
Het |
| Tcf21 |
T |
C |
10: 22,695,558 (GRCm39) |
N82S |
probably damaging |
Het |
| Tlr2 |
A |
T |
3: 83,745,030 (GRCm39) |
V351D |
probably damaging |
Het |
| Tmem39a |
G |
A |
16: 38,411,326 (GRCm39) |
G359D |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Vmn2r17 |
C |
A |
5: 109,577,342 (GRCm39) |
F464L |
probably benign |
Het |
| Vmn2r49 |
T |
A |
7: 9,710,204 (GRCm39) |
T843S |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,088 (GRCm39) |
D823G |
probably null |
Het |
| Wrnip1 |
T |
A |
13: 33,000,319 (GRCm39) |
L442Q |
probably damaging |
Het |
| Zbtb38 |
G |
T |
9: 96,569,062 (GRCm39) |
S674Y |
probably damaging |
Het |
| Zfp639 |
T |
G |
3: 32,574,585 (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 |
|
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'- ACTCATGCCCAAGGGAAAAG -3'
(R):5'- TTCTAGCCACACAAAGTCATATGC -3'
Sequencing Primer
(F):5'- CCCAAGGGAAAAGAAGCTTCATGC -3'
(R):5'- ACACAAAGTCATATGCATAACAGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation