Incidental Mutation 'R2865:Gria2'
| ID |
253146 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gria2
|
| Ensembl Gene |
ENSMUSG00000033981 |
| Gene Name |
glutamate receptor, ionotropic, AMPA2 (alpha 2) |
| Synonyms |
Glur-2, GluA2, GluR2, GluR-B, Glur2 |
| MMRRC Submission |
040454-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
R2865 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
80588757-80710142 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80639392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 207
(V207I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075316]
[ENSMUST00000107745]
[ENSMUST00000192463]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075316
AA Change: V207I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000074787
Gene: ENSMUSG00000033981
AA Change: V207I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
49 |
379 |
2.7e-58 |
PFAM |
|
PBPe
|
415 |
790 |
3.75e-132 |
SMART |
|
Lig_chan-Glu_bd
|
425 |
490 |
2.96e-31 |
SMART |
|
low complexity region
|
820 |
832 |
N/A |
INTRINSIC |
|
low complexity region
|
853 |
865 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107745
AA Change: V207I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103374
Gene: ENSMUSG00000033981
AA Change: V207I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
47 |
379 |
4.8e-53 |
PFAM |
|
PBPe
|
415 |
790 |
8.16e-133 |
SMART |
|
Lig_chan-Glu_bd
|
425 |
490 |
2.96e-31 |
SMART |
|
low complexity region
|
820 |
832 |
N/A |
INTRINSIC |
|
low complexity region
|
853 |
865 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192463
AA Change: V207I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000141447
Gene: ENSMUSG00000033981
AA Change: V207I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
47 |
379 |
1.7e-51 |
PFAM |
|
PBPe
|
415 |
770 |
1.2e-105 |
SMART |
|
Lig_chan-Glu_bd
|
425 |
490 |
2.2e-35 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194383
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195062
|
| Meta Mutation Damage Score |
0.1035 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (30/30) |
| 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. This gene product belongs to a family of glutamate receptors that are sensitive to alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate (AMPA), and function as ligand-activated cation channels. These channels are assembled from 4 related subunits, Gria1-4. The subunit encoded by this gene (Gria2) is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to render the channel impermeable to Ca(2+). Alternative splicing, resulting in transcript variants encoding different isoforms, (including the flip and flop isoforms that vary in their signal transduction properties), has been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit epilepsy, deficient dendritic architecture, altered exploratory behavior, impaired motor and learning performance, and increased mortality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
A |
G |
8: 12,329,635 (GRCm39) |
Q30R |
unknown |
Het |
| Bmper |
A |
G |
9: 23,395,237 (GRCm39) |
N656S |
probably benign |
Het |
| Cic |
T |
A |
7: 24,972,646 (GRCm39) |
D792E |
probably damaging |
Het |
| Dab1 |
G |
A |
4: 104,537,343 (GRCm39) |
C192Y |
probably benign |
Het |
| Ddx6 |
G |
T |
9: 44,525,553 (GRCm39) |
L103F |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,059,543 (GRCm39) |
K714R |
probably null |
Het |
| Flt1 |
T |
C |
5: 147,531,431 (GRCm39) |
Q844R |
possibly damaging |
Het |
| Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
| Fxr2 |
T |
A |
11: 69,530,253 (GRCm39) |
I40N |
probably damaging |
Het |
| Gm7168 |
A |
G |
17: 14,170,117 (GRCm39) |
K495E |
probably benign |
Het |
| Ifna6 |
G |
C |
4: 88,746,099 (GRCm39) |
R149S |
probably benign |
Het |
| Ifna6 |
C |
A |
4: 88,746,086 (GRCm39) |
T145K |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,905,611 (GRCm39) |
H2240R |
probably damaging |
Het |
| Ighv8-9 |
G |
A |
12: 115,432,066 (GRCm39) |
P82S |
probably benign |
Het |
| Itpr3 |
T |
C |
17: 27,310,525 (GRCm39) |
V436A |
probably benign |
Het |
| Ldb3 |
T |
G |
14: 34,251,460 (GRCm39) |
D609A |
probably damaging |
Het |
| Lgalsl2 |
G |
T |
7: 5,362,668 (GRCm39) |
D100Y |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,485,335 (GRCm39) |
Q112K |
probably damaging |
Het |
| Marchf4 |
C |
T |
1: 72,491,734 (GRCm39) |
R179H |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,960,788 (GRCm39) |
T75A |
probably benign |
Het |
| Or5t9 |
A |
T |
2: 86,659,198 (GRCm39) |
D34V |
probably benign |
Het |
| Or8h10 |
A |
T |
2: 86,808,805 (GRCm39) |
C112S |
possibly damaging |
Het |
| Parp4 |
C |
T |
14: 56,851,181 (GRCm39) |
T728M |
probably damaging |
Het |
| Ppp1r10 |
A |
G |
17: 36,239,384 (GRCm39) |
T398A |
possibly damaging |
Het |
| Ppp4c |
A |
T |
7: 126,391,272 (GRCm39) |
I20N |
probably damaging |
Het |
| Rph3a |
C |
T |
5: 121,085,990 (GRCm39) |
G482D |
probably damaging |
Het |
| Rtel1 |
T |
A |
2: 180,991,765 (GRCm39) |
F388I |
probably benign |
Het |
| Slc12a6 |
G |
A |
2: 112,177,662 (GRCm39) |
V594I |
probably benign |
Het |
| Slc2a4 |
G |
A |
11: 69,836,942 (GRCm39) |
S134F |
probably damaging |
Het |
| Tead4 |
A |
T |
6: 128,225,062 (GRCm39) |
|
probably null |
Het |
| Usp40 |
G |
A |
1: 87,877,701 (GRCm39) |
Q1152* |
probably null |
Het |
|
| Other mutations in Gria2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00796:Gria2
|
APN |
3 |
80,618,097 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL00832:Gria2
|
APN |
3 |
80,614,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01086:Gria2
|
APN |
3 |
80,599,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01409:Gria2
|
APN |
3 |
80,615,004 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01924:Gria2
|
APN |
3 |
80,617,638 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01999:Gria2
|
APN |
3 |
80,639,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02355:Gria2
|
APN |
3 |
80,614,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02362:Gria2
|
APN |
3 |
80,614,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02389:Gria2
|
APN |
3 |
80,616,729 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02444:Gria2
|
APN |
3 |
80,609,860 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02532:Gria2
|
APN |
3 |
80,614,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02991:Gria2
|
UTSW |
3 |
80,615,116 (GRCm39) |
nonsense |
probably null |
|
|
R0015:Gria2
|
UTSW |
3 |
80,615,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Gria2
|
UTSW |
3 |
80,615,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0201:Gria2
|
UTSW |
3 |
80,615,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0411:Gria2
|
UTSW |
3 |
80,618,165 (GRCm39) |
splice site |
probably benign |
|
|
R0551:Gria2
|
UTSW |
3 |
80,639,333 (GRCm39) |
splice site |
probably benign |
|
|
R0655:Gria2
|
UTSW |
3 |
80,639,377 (GRCm39) |
nonsense |
probably null |
|
|
R0866:Gria2
|
UTSW |
3 |
80,629,331 (GRCm39) |
splice site |
probably benign |
|
|
R1393:Gria2
|
UTSW |
3 |
80,614,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1458:Gria2
|
UTSW |
3 |
80,639,352 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1563:Gria2
|
UTSW |
3 |
80,598,704 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1771:Gria2
|
UTSW |
3 |
80,599,608 (GRCm39) |
nonsense |
probably null |
|
|
R1775:Gria2
|
UTSW |
3 |
80,598,645 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1902:Gria2
|
UTSW |
3 |
80,629,415 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1993:Gria2
|
UTSW |
3 |
80,709,664 (GRCm39) |
missense |
probably benign |
|
|
R1994:Gria2
|
UTSW |
3 |
80,709,664 (GRCm39) |
missense |
probably benign |
|
|
R1995:Gria2
|
UTSW |
3 |
80,709,664 (GRCm39) |
missense |
probably benign |
|
|
R2001:Gria2
|
UTSW |
3 |
80,618,112 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2389:Gria2
|
UTSW |
3 |
80,609,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:Gria2
|
UTSW |
3 |
80,614,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2679:Gria2
|
UTSW |
3 |
80,648,260 (GRCm39) |
splice site |
probably benign |
|
|
R2869:Gria2
|
UTSW |
3 |
80,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2869:Gria2
|
UTSW |
3 |
80,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Gria2
|
UTSW |
3 |
80,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Gria2
|
UTSW |
3 |
80,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Gria2
|
UTSW |
3 |
80,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Gria2
|
UTSW |
3 |
80,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Gria2
|
UTSW |
3 |
80,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2872:Gria2
|
UTSW |
3 |
80,609,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3716:Gria2
|
UTSW |
3 |
80,648,311 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3967:Gria2
|
UTSW |
3 |
80,618,084 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4285:Gria2
|
UTSW |
3 |
80,614,969 (GRCm39) |
intron |
probably benign |
|
|
R4611:Gria2
|
UTSW |
3 |
80,599,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4612:Gria2
|
UTSW |
3 |
80,639,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4616:Gria2
|
UTSW |
3 |
80,614,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4706:Gria2
|
UTSW |
3 |
80,648,297 (GRCm39) |
missense |
probably benign |
|
|
R4996:Gria2
|
UTSW |
3 |
80,614,448 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5502:Gria2
|
UTSW |
3 |
80,614,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Gria2
|
UTSW |
3 |
80,614,556 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6142:Gria2
|
UTSW |
3 |
80,709,024 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6233:Gria2
|
UTSW |
3 |
80,614,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6317:Gria2
|
UTSW |
3 |
80,648,311 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6453:Gria2
|
UTSW |
3 |
80,648,281 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6526:Gria2
|
UTSW |
3 |
80,599,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6545:Gria2
|
UTSW |
3 |
80,648,451 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6574:Gria2
|
UTSW |
3 |
80,596,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6720:Gria2
|
UTSW |
3 |
80,709,611 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7009:Gria2
|
UTSW |
3 |
80,614,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7049:Gria2
|
UTSW |
3 |
80,596,634 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7191:Gria2
|
UTSW |
3 |
80,639,392 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7225:Gria2
|
UTSW |
3 |
80,709,938 (GRCm39) |
unclassified |
probably benign |
|
|
R7374:Gria2
|
UTSW |
3 |
80,648,383 (GRCm39) |
missense |
probably benign |
|
|
R7837:Gria2
|
UTSW |
3 |
80,618,095 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8034:Gria2
|
UTSW |
3 |
80,709,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8125:Gria2
|
UTSW |
3 |
80,614,550 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8189:Gria2
|
UTSW |
3 |
80,629,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8209:Gria2
|
UTSW |
3 |
80,616,764 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8362:Gria2
|
UTSW |
3 |
80,615,197 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8481:Gria2
|
UTSW |
3 |
80,708,998 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8500:Gria2
|
UTSW |
3 |
80,599,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8516:Gria2
|
UTSW |
3 |
80,614,294 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8918:Gria2
|
UTSW |
3 |
80,599,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Gria2
|
UTSW |
3 |
80,618,170 (GRCm39) |
intron |
probably benign |
|
|
R8971:Gria2
|
UTSW |
3 |
80,615,200 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9229:Gria2
|
UTSW |
3 |
80,709,689 (GRCm39) |
start codon destroyed |
probably null |
0.60 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTACTGAGGCTGGGGATAATTC -3'
(R):5'- TGAGAGCCTCTGACTGATGC -3'
Sequencing Primer
(F):5'- ACTGAGGCTGGGGATAATTCAATTG -3'
(R):5'- GAGAGCCTCTGACTGATGCTTATC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation