Incidental Mutation 'R1333:Grik2'
| ID |
156783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grik2
|
| Ensembl Gene |
ENSMUSG00000056073 |
| Gene Name |
glutamate receptor, ionotropic, kainate 2 (beta 2) |
| Synonyms |
Glur6, C130030K03Rik, Glurbeta2, Glur-6 |
| MMRRC Submission |
039398-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1333 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
48970929-49664862 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 49404087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 258
(T258N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079751]
[ENSMUST00000105484]
[ENSMUST00000218441]
[ENSMUST00000218823]
[ENSMUST00000218598]
[ENSMUST00000218669]
[ENSMUST00000220263]
|
| AlphaFold |
P39087 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079751
AA Change: T258N
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078687
Gene: ENSMUSG00000056073
AA Change: T258N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peripla_BP_6
|
44 |
386 |
1.8e-11 |
PFAM |
|
Pfam:ANF_receptor
|
52 |
395 |
8.3e-75 |
PFAM |
|
PBPe
|
432 |
801 |
5.6e-131 |
SMART |
|
Lig_chan-Glu_bd
|
442 |
507 |
3.81e-34 |
SMART |
|
Blast:PBPe
|
809 |
855 |
2e-12 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105483
AA Change: T258N
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101123
Gene: ENSMUSG00000056073
AA Change: T258N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peripla_BP_6
|
44 |
298 |
3e-11 |
PFAM |
|
Pfam:ANF_receptor
|
52 |
334 |
3.5e-59 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105484
AA Change: T258N
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101124
Gene: ENSMUSG00000056073
AA Change: T258N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peripla_BP_6
|
46 |
386 |
5e-11 |
PFAM |
|
Pfam:ANF_receptor
|
52 |
395 |
9.7e-80 |
PFAM |
|
PBPe
|
432 |
801 |
5.6e-131 |
SMART |
|
Lig_chan-Glu_bd
|
442 |
507 |
3.81e-34 |
SMART |
|
Blast:PBPe
|
809 |
855 |
1e-12 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105485
AA Change: T258N
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101125
Gene: ENSMUSG00000056073
AA Change: T258N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peripla_BP_6
|
44 |
386 |
1.8e-11 |
PFAM |
|
Pfam:ANF_receptor
|
52 |
395 |
8.3e-75 |
PFAM |
|
PBPe
|
432 |
801 |
5.6e-131 |
SMART |
|
Lig_chan-Glu_bd
|
442 |
507 |
3.81e-34 |
SMART |
|
Blast:PBPe
|
809 |
855 |
2e-12 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105486
AA Change: T258N
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101126
Gene: ENSMUSG00000056073
AA Change: T258N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peripla_BP_6
|
44 |
386 |
3.8e-11 |
PFAM |
|
Pfam:ANF_receptor
|
52 |
395 |
1.5e-74 |
PFAM |
|
PBPe
|
432 |
801 |
5.6e-131 |
SMART |
|
Lig_chan-Glu_bd
|
442 |
507 |
3.81e-34 |
SMART |
|
Blast:PBPe
|
809 |
855 |
6e-13 |
BLAST |
|
low complexity region
|
875 |
891 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105487
AA Change: T258N
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101127
Gene: ENSMUSG00000056073
AA Change: T258N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peripla_BP_6
|
46 |
386 |
5e-11 |
PFAM |
|
Pfam:ANF_receptor
|
52 |
395 |
9.7e-80 |
PFAM |
|
PBPe
|
432 |
801 |
5.6e-131 |
SMART |
|
Lig_chan-Glu_bd
|
442 |
507 |
3.81e-34 |
SMART |
|
Blast:PBPe
|
809 |
855 |
1e-12 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218441
AA Change: T258N
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218823
AA Change: T258N
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218598
AA Change: T258N
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218669
AA Change: T29N
PolyPhen 2
Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220263
AA Change: T258N
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.5914 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 90.3%
|
| Validation Efficiency |
98% (41/42) |
| 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 the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing at multiple sites within the first and second transmembrane domains, which is thought to alter the structure and function of the receptor complex. Alternatively spliced transcript variants encoding different isoforms have also been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit hippocampal neurons with reduced sensitivity to kainate and reduced susceptibility to the seizure-inducing effects of kainate administration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
A |
G |
8: 114,431,805 (GRCm39) |
|
probably benign |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Amt |
A |
G |
9: 108,178,296 (GRCm39) |
D301G |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,247,744 (GRCm39) |
V276A |
probably benign |
Het |
| Bid |
C |
T |
6: 120,874,216 (GRCm39) |
A110T |
possibly damaging |
Het |
| Ccdc63 |
T |
C |
5: 122,246,224 (GRCm39) |
T566A |
probably benign |
Het |
| Cdk5rap1 |
A |
G |
2: 154,202,574 (GRCm39) |
S219P |
probably damaging |
Het |
| Col1a2 |
T |
A |
6: 4,515,684 (GRCm39) |
|
probably null |
Het |
| Ctns |
G |
A |
11: 73,075,823 (GRCm39) |
T342I |
probably benign |
Het |
| Dst |
G |
A |
1: 34,267,428 (GRCm39) |
E4957K |
probably damaging |
Het |
| Elp1 |
C |
T |
4: 56,770,969 (GRCm39) |
|
probably benign |
Het |
| Fam163b |
A |
G |
2: 27,003,659 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,457,152 (GRCm39) |
T2067A |
probably benign |
Het |
| Gm7353 |
C |
T |
7: 3,159,066 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9791 |
T |
C |
3: 34,059,225 (GRCm39) |
|
noncoding transcript |
Het |
| Herc3 |
T |
C |
6: 58,864,478 (GRCm39) |
L704P |
probably damaging |
Het |
| Hjurp |
A |
C |
1: 88,193,768 (GRCm39) |
V380G |
probably damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,778,177 (GRCm39) |
|
probably benign |
Het |
| Mast3 |
G |
A |
8: 71,233,938 (GRCm39) |
P187S |
probably damaging |
Het |
| Mier2 |
A |
G |
10: 79,380,991 (GRCm39) |
V231A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,422,144 (GRCm39) |
T4427A |
possibly damaging |
Het |
| Nox4 |
A |
G |
7: 86,896,072 (GRCm39) |
S7G |
possibly damaging |
Het |
| Obscn |
G |
C |
11: 58,971,143 (GRCm39) |
Q2457E |
probably damaging |
Het |
| Sh3bgrl2 |
C |
T |
9: 83,459,684 (GRCm39) |
|
probably benign |
Het |
| Slc1a1 |
A |
G |
19: 28,812,611 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stat6 |
G |
C |
10: 127,487,094 (GRCm39) |
R200S |
possibly damaging |
Het |
| Stxbp5l |
C |
A |
16: 37,068,231 (GRCm39) |
|
probably null |
Het |
| Tanc1 |
A |
G |
2: 59,673,835 (GRCm39) |
S1647G |
probably benign |
Het |
| Tmem132d |
T |
A |
5: 127,861,923 (GRCm39) |
M733L |
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,964,381 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,199,550 (GRCm39) |
S165P |
possibly damaging |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,615 (GRCm39) |
I230T |
probably damaging |
Het |
| Zscan20 |
T |
C |
4: 128,481,889 (GRCm39) |
D591G |
possibly damaging |
Het |
|
| Other mutations in Grik2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00863:Grik2
|
APN |
10 |
49,232,024 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00979:Grik2
|
APN |
10 |
49,232,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01012:Grik2
|
APN |
10 |
49,149,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01302:Grik2
|
APN |
10 |
49,120,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01657:Grik2
|
APN |
10 |
49,404,082 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02162:Grik2
|
APN |
10 |
49,298,671 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02317:Grik2
|
APN |
10 |
49,298,711 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02512:Grik2
|
APN |
10 |
49,232,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02650:Grik2
|
APN |
10 |
48,977,331 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03283:Grik2
|
APN |
10 |
49,454,365 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB004:Grik2
|
UTSW |
10 |
49,116,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB014:Grik2
|
UTSW |
10 |
49,116,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Grik2
|
UTSW |
10 |
49,116,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0492:Grik2
|
UTSW |
10 |
48,977,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0601:Grik2
|
UTSW |
10 |
49,298,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0844:Grik2
|
UTSW |
10 |
48,977,211 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1499:Grik2
|
UTSW |
10 |
49,008,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1660:Grik2
|
UTSW |
10 |
49,120,439 (GRCm39) |
nonsense |
probably null |
|
|
R1721:Grik2
|
UTSW |
10 |
49,399,842 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1966:Grik2
|
UTSW |
10 |
49,232,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1974:Grik2
|
UTSW |
10 |
49,008,923 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R2246:Grik2
|
UTSW |
10 |
49,411,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3103:Grik2
|
UTSW |
10 |
49,116,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3974:Grik2
|
UTSW |
10 |
49,298,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4592:Grik2
|
UTSW |
10 |
49,298,711 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4658:Grik2
|
UTSW |
10 |
49,399,888 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4748:Grik2
|
UTSW |
10 |
49,411,437 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4935:Grik2
|
UTSW |
10 |
49,116,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4977:Grik2
|
UTSW |
10 |
49,008,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5103:Grik2
|
UTSW |
10 |
49,372,205 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5330:Grik2
|
UTSW |
10 |
49,008,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5331:Grik2
|
UTSW |
10 |
49,008,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5736:Grik2
|
UTSW |
10 |
49,280,506 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5740:Grik2
|
UTSW |
10 |
48,989,573 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5747:Grik2
|
UTSW |
10 |
49,399,870 (GRCm39) |
missense |
probably benign |
|
|
R6015:Grik2
|
UTSW |
10 |
49,399,959 (GRCm39) |
splice site |
probably null |
|
|
R6311:Grik2
|
UTSW |
10 |
49,454,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6474:Grik2
|
UTSW |
10 |
49,008,776 (GRCm39) |
missense |
probably benign |
|
|
R6504:Grik2
|
UTSW |
10 |
49,232,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6591:Grik2
|
UTSW |
10 |
49,149,021 (GRCm39) |
nonsense |
probably null |
|
|
R6691:Grik2
|
UTSW |
10 |
49,149,021 (GRCm39) |
nonsense |
probably null |
|
|
R6776:Grik2
|
UTSW |
10 |
49,232,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7015:Grik2
|
UTSW |
10 |
49,411,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7094:Grik2
|
UTSW |
10 |
49,232,012 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7153:Grik2
|
UTSW |
10 |
49,411,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7229:Grik2
|
UTSW |
10 |
48,977,512 (GRCm39) |
splice site |
probably null |
|
|
R7402:Grik2
|
UTSW |
10 |
49,411,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7473:Grik2
|
UTSW |
10 |
48,989,618 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7514:Grik2
|
UTSW |
10 |
49,399,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7526:Grik2
|
UTSW |
10 |
49,399,918 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7657:Grik2
|
UTSW |
10 |
49,659,247 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7681:Grik2
|
UTSW |
10 |
49,120,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7714:Grik2
|
UTSW |
10 |
49,295,792 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7927:Grik2
|
UTSW |
10 |
49,116,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7952:Grik2
|
UTSW |
10 |
49,298,633 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7979:Grik2
|
UTSW |
10 |
49,280,438 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8062:Grik2
|
UTSW |
10 |
49,116,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8222:Grik2
|
UTSW |
10 |
49,449,744 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8406:Grik2
|
UTSW |
10 |
49,148,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9017:Grik2
|
UTSW |
10 |
48,989,555 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9557:Grik2
|
UTSW |
10 |
49,404,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF008:Grik2
|
UTSW |
10 |
49,120,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Grik2
|
UTSW |
10 |
49,149,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCCTCCCAGGTGGAATCAAAATCAG -3'
(R):5'- ATTACCAGCATGTCTAAGGTGCGG -3'
Sequencing Primer
(F):5'- GTGGAATCAAAATCAGATAAAGCAC -3'
(R):5'- GAAGAGTGCTGTTTTGCACC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation