Incidental Mutation 'R4616:Gria2'
| ID |
351027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gria2
|
| Ensembl Gene |
ENSMUSG00000033981 |
| Gene Name |
glutamate receptor, ionotropic, AMPA2 (alpha 2) |
| Synonyms |
Glur2, Glur-2, GluR-B, GluA2, GluR2 |
| MMRRC Submission |
041827-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.206)
|
| Stock # |
R4616 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
80681450-80802835 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80706897 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 612
(I612N)
|
| 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 damaging
Transcript: ENSMUST00000075316
AA Change: I612N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074787
Gene: ENSMUSG00000033981
AA Change: I612N
| 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 damaging
Transcript: ENSMUST00000107745
AA Change: I612N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103374
Gene: ENSMUSG00000033981
AA Change: I612N
| 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 damaging
Transcript: ENSMUST00000192463
AA Change: I612N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141447
Gene: ENSMUSG00000033981
AA Change: I612N
| 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 |
0.8744 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (64/64) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010111I01Rik |
G |
A |
13: 63,298,751 (GRCm38) |
E123K |
probably damaging |
Het |
| 4931417E11Rik |
A |
G |
6: 73,469,269 (GRCm38) |
V99A |
probably benign |
Het |
| Acod1 |
C |
T |
14: 103,055,345 (GRCm38) |
T435M |
probably benign |
Het |
| Adgrf5 |
T |
C |
17: 43,452,440 (GRCm38) |
F1078L |
probably benign |
Het |
| Adh6a |
A |
T |
3: 138,324,947 (GRCm38) |
N110I |
probably damaging |
Het |
| Aldh16a1 |
T |
C |
7: 45,148,788 (GRCm38) |
|
probably benign |
Het |
| Arhgef17 |
A |
G |
7: 100,882,485 (GRCm38) |
F1302S |
probably damaging |
Het |
| Bcl2a1a |
C |
T |
9: 88,957,453 (GRCm38) |
R135W |
probably damaging |
Het |
| Bpifa6 |
T |
C |
2: 153,982,988 (GRCm38) |
S28P |
possibly damaging |
Het |
| C9 |
A |
G |
15: 6,491,463 (GRCm38) |
D51G |
probably damaging |
Het |
| Cfb |
T |
A |
17: 34,859,068 (GRCm38) |
H962L |
probably benign |
Het |
| Chn2 |
G |
A |
6: 54,290,403 (GRCm38) |
M292I |
probably damaging |
Het |
| Clec16a |
T |
A |
16: 10,644,883 (GRCm38) |
|
probably null |
Het |
| Cyp1a1 |
T |
C |
9: 57,701,756 (GRCm38) |
S307P |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,531,559 (GRCm38) |
V538A |
probably benign |
Het |
| Erbb3 |
G |
A |
10: 128,572,770 (GRCm38) |
Q815* |
probably null |
Het |
| Fam90a1a |
C |
A |
8: 21,963,846 (GRCm38) |
Q406K |
possibly damaging |
Het |
| Frmd3 |
T |
C |
4: 74,187,872 (GRCm38) |
V585A |
probably benign |
Het |
| Gm7102 |
C |
T |
19: 61,175,926 (GRCm38) |
G24R |
unknown |
Het |
| Gm8214 |
T |
C |
1: 183,681,897 (GRCm38) |
|
noncoding transcript |
Het |
| Gpld1 |
G |
A |
13: 24,984,816 (GRCm38) |
G771D |
probably damaging |
Het |
| Gpr20 |
T |
C |
15: 73,695,736 (GRCm38) |
N268S |
probably benign |
Het |
| Ifit1bl1 |
T |
C |
19: 34,594,610 (GRCm38) |
E149G |
probably damaging |
Het |
| Ighv1-82 |
T |
C |
12: 115,952,660 (GRCm38) |
T77A |
probably benign |
Het |
| Ighv2-9 |
G |
T |
12: 113,879,219 (GRCm38) |
T76K |
probably damaging |
Het |
| Igkv6-13 |
A |
T |
6: 70,458,035 (GRCm38) |
M1K |
probably null |
Het |
| Igkv8-21 |
A |
T |
6: 70,315,157 (GRCm38) |
S34T |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,481,223 (GRCm38) |
N1985D |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,504,397 (GRCm38) |
|
probably null |
Het |
| Lamc2 |
T |
C |
1: 153,166,169 (GRCm38) |
Y73C |
probably damaging |
Het |
| Maff |
A |
G |
15: 79,357,698 (GRCm38) |
D105G |
probably damaging |
Het |
| Mep1a |
C |
T |
17: 43,486,241 (GRCm38) |
V312M |
possibly damaging |
Het |
| Mfap4 |
C |
A |
11: 61,485,509 (GRCm38) |
|
probably benign |
Het |
| Mrgbp |
A |
T |
2: 180,585,314 (GRCm38) |
|
silent |
Het |
| Mtmr4 |
T |
C |
11: 87,610,935 (GRCm38) |
L548S |
probably damaging |
Het |
| Myo7b |
T |
C |
18: 32,003,487 (GRCm38) |
|
probably null |
Het |
| Myo9a |
T |
C |
9: 59,821,649 (GRCm38) |
I596T |
probably damaging |
Het |
| Olfr38 |
G |
T |
6: 42,762,418 (GRCm38) |
R122L |
probably benign |
Het |
| Olfr594 |
C |
T |
7: 103,220,422 (GRCm38) |
R235* |
probably null |
Het |
| Pcsk5 |
T |
G |
19: 17,560,750 (GRCm38) |
Q904H |
probably benign |
Het |
| Pdzrn3 |
G |
T |
6: 101,152,009 (GRCm38) |
H565Q |
probably damaging |
Het |
| Phkg2 |
C |
T |
7: 127,577,620 (GRCm38) |
R61W |
probably damaging |
Het |
| Pkd2l1 |
C |
A |
19: 44,154,134 (GRCm38) |
A490S |
probably damaging |
Het |
| Pomgnt1 |
T |
A |
4: 116,154,890 (GRCm38) |
I337N |
probably damaging |
Het |
| Psmd3 |
T |
C |
11: 98,682,926 (GRCm38) |
V66A |
probably benign |
Het |
| Ptger3 |
T |
C |
3: 157,567,294 (GRCm38) |
S93P |
probably damaging |
Het |
| Rbm27 |
T |
A |
18: 42,301,775 (GRCm38) |
D301E |
probably damaging |
Het |
| Rdh16 |
A |
T |
10: 127,801,513 (GRCm38) |
|
probably null |
Het |
| Slc35a5 |
A |
T |
16: 45,144,292 (GRCm38) |
F193I |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,038,561 (GRCm38) |
K167R |
probably damaging |
Het |
| Sort1 |
A |
T |
3: 108,355,541 (GRCm38) |
T772S |
possibly damaging |
Het |
| Sptbn5 |
T |
A |
2: 120,048,757 (GRCm38) |
|
noncoding transcript |
Het |
| Stard5 |
G |
T |
7: 83,633,281 (GRCm38) |
|
probably benign |
Het |
| Tbc1d22a |
A |
G |
15: 86,235,685 (GRCm38) |
T61A |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,320,647 (GRCm38) |
L479P |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,959,120 (GRCm38) |
M80K |
probably damaging |
Het |
| Vmn1r209 |
A |
T |
13: 22,805,965 (GRCm38) |
L185Q |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 42,012,438 (GRCm38) |
I651T |
probably benign |
Het |
| Vsig1 |
G |
T |
X: 140,926,386 (GRCm38) |
A95S |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,413,067 (GRCm38) |
S3556P |
possibly damaging |
Het |
|
| Other mutations in Gria2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00796:Gria2
|
APN |
3 |
80,710,790 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL00832:Gria2
|
APN |
3 |
80,707,251 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01086:Gria2
|
APN |
3 |
80,692,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01409:Gria2
|
APN |
3 |
80,707,697 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01924:Gria2
|
APN |
3 |
80,710,331 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL01999:Gria2
|
APN |
3 |
80,732,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02355:Gria2
|
APN |
3 |
80,706,937 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02362:Gria2
|
APN |
3 |
80,706,937 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02389:Gria2
|
APN |
3 |
80,709,422 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL02444:Gria2
|
APN |
3 |
80,702,553 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
IGL02532:Gria2
|
APN |
3 |
80,706,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02991:Gria2
|
UTSW |
3 |
80,707,809 (GRCm38) |
nonsense |
probably null |
|
|
R0015:Gria2
|
UTSW |
3 |
80,707,767 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0148:Gria2
|
UTSW |
3 |
80,707,731 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0201:Gria2
|
UTSW |
3 |
80,707,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0411:Gria2
|
UTSW |
3 |
80,710,858 (GRCm38) |
splice site |
probably benign |
|
|
R0551:Gria2
|
UTSW |
3 |
80,732,026 (GRCm38) |
splice site |
probably benign |
|
|
R0655:Gria2
|
UTSW |
3 |
80,732,070 (GRCm38) |
nonsense |
probably null |
|
|
R0866:Gria2
|
UTSW |
3 |
80,722,024 (GRCm38) |
splice site |
probably benign |
|
|
R1393:Gria2
|
UTSW |
3 |
80,707,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1458:Gria2
|
UTSW |
3 |
80,732,045 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R1563:Gria2
|
UTSW |
3 |
80,691,397 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1771:Gria2
|
UTSW |
3 |
80,692,301 (GRCm38) |
nonsense |
probably null |
|
|
R1775:Gria2
|
UTSW |
3 |
80,691,338 (GRCm38) |
missense |
probably benign |
0.09 |
|
R1902:Gria2
|
UTSW |
3 |
80,722,108 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1993:Gria2
|
UTSW |
3 |
80,802,357 (GRCm38) |
missense |
probably benign |
|
|
R1994:Gria2
|
UTSW |
3 |
80,802,357 (GRCm38) |
missense |
probably benign |
|
|
R1995:Gria2
|
UTSW |
3 |
80,802,357 (GRCm38) |
missense |
probably benign |
|
|
R2001:Gria2
|
UTSW |
3 |
80,710,805 (GRCm38) |
missense |
probably benign |
0.28 |
|
R2389:Gria2
|
UTSW |
3 |
80,702,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2520:Gria2
|
UTSW |
3 |
80,706,962 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2679:Gria2
|
UTSW |
3 |
80,740,953 (GRCm38) |
splice site |
probably benign |
|
|
R2865:Gria2
|
UTSW |
3 |
80,732,085 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2869:Gria2
|
UTSW |
3 |
80,702,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2869:Gria2
|
UTSW |
3 |
80,702,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2870:Gria2
|
UTSW |
3 |
80,702,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2870:Gria2
|
UTSW |
3 |
80,702,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2871:Gria2
|
UTSW |
3 |
80,702,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2871:Gria2
|
UTSW |
3 |
80,702,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2872:Gria2
|
UTSW |
3 |
80,702,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2872:Gria2
|
UTSW |
3 |
80,702,492 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3716:Gria2
|
UTSW |
3 |
80,741,004 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R3967:Gria2
|
UTSW |
3 |
80,710,777 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4285:Gria2
|
UTSW |
3 |
80,707,662 (GRCm38) |
intron |
probably benign |
|
|
R4611:Gria2
|
UTSW |
3 |
80,692,492 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4612:Gria2
|
UTSW |
3 |
80,732,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4706:Gria2
|
UTSW |
3 |
80,740,990 (GRCm38) |
missense |
probably benign |
|
|
R4996:Gria2
|
UTSW |
3 |
80,707,141 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5502:Gria2
|
UTSW |
3 |
80,706,945 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5930:Gria2
|
UTSW |
3 |
80,707,249 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R6142:Gria2
|
UTSW |
3 |
80,801,717 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6233:Gria2
|
UTSW |
3 |
80,707,203 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6317:Gria2
|
UTSW |
3 |
80,741,004 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R6453:Gria2
|
UTSW |
3 |
80,740,974 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R6526:Gria2
|
UTSW |
3 |
80,692,469 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6545:Gria2
|
UTSW |
3 |
80,741,144 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6574:Gria2
|
UTSW |
3 |
80,689,296 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6720:Gria2
|
UTSW |
3 |
80,802,304 (GRCm38) |
missense |
probably benign |
0.37 |
|
R7009:Gria2
|
UTSW |
3 |
80,706,972 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7049:Gria2
|
UTSW |
3 |
80,689,327 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7191:Gria2
|
UTSW |
3 |
80,732,085 (GRCm38) |
missense |
probably benign |
0.24 |
|
R7225:Gria2
|
UTSW |
3 |
80,802,631 (GRCm38) |
unclassified |
probably benign |
|
|
R7374:Gria2
|
UTSW |
3 |
80,741,076 (GRCm38) |
missense |
probably benign |
|
|
R7837:Gria2
|
UTSW |
3 |
80,710,788 (GRCm38) |
missense |
probably benign |
0.18 |
|
R8034:Gria2
|
UTSW |
3 |
80,801,699 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8125:Gria2
|
UTSW |
3 |
80,707,243 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R8189:Gria2
|
UTSW |
3 |
80,722,182 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8209:Gria2
|
UTSW |
3 |
80,709,457 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8362:Gria2
|
UTSW |
3 |
80,707,890 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R8481:Gria2
|
UTSW |
3 |
80,801,691 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R8500:Gria2
|
UTSW |
3 |
80,692,467 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8516:Gria2
|
UTSW |
3 |
80,706,987 (GRCm38) |
missense |
probably benign |
0.27 |
|
R8918:Gria2
|
UTSW |
3 |
80,692,399 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8939:Gria2
|
UTSW |
3 |
80,710,863 (GRCm38) |
intron |
probably benign |
|
|
R8971:Gria2
|
UTSW |
3 |
80,707,893 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9229:Gria2
|
UTSW |
3 |
80,802,382 (GRCm38) |
start codon destroyed |
probably null |
0.60 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTCACCAGGGAAACACATGATC -3'
(R):5'- TGCCTACATTGGGGTCAGTG -3'
Sequencing Primer
(F):5'- GTTCAGGTATTTCACAGGCTTACGC -3'
(R):5'- CAGTGTAGTTTTATTCCTGGTCAGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation