Incidental Mutation 'R5318:Grik3'
| ID |
405909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grik3
|
| Ensembl Gene |
ENSMUSG00000001985 |
| Gene Name |
glutamate receptor, ionotropic, kainate 3 |
| Synonyms |
Glur7, Glur-7 |
| MMRRC Submission |
042901-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R5318 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
125384493-125607966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125587929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 683
(E683G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030676]
|
| AlphaFold |
B1AS29 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030676
AA Change: E683G
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000030676
Gene: ENSMUSG00000001985
AA Change: E683G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
55 |
398 |
7.8e-72 |
PFAM |
|
PBPe
|
435 |
802 |
4.38e-133 |
SMART |
|
Lig_chan-Glu_bd
|
445 |
509 |
5.77e-34 |
SMART |
|
transmembrane domain
|
823 |
845 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.7%
|
| Validation Efficiency |
|
| 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. Transcript variants encoding different isoforms have been described for this gene, however, their full-length nature is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit significantly reduced short- and long-term synaptic potentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
G |
A |
17: 35,878,883 (GRCm39) |
E74K |
possibly damaging |
Het |
| Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
| Ankfn1 |
A |
G |
11: 89,282,754 (GRCm39) |
S298P |
probably damaging |
Het |
| Arfgef2 |
A |
C |
2: 166,715,891 (GRCm39) |
K1393N |
probably damaging |
Het |
| Atp4a |
T |
A |
7: 30,414,754 (GRCm39) |
V181E |
probably damaging |
Het |
| Bin3 |
A |
G |
14: 70,371,961 (GRCm39) |
D134G |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,128,425 (GRCm39) |
T359A |
possibly damaging |
Het |
| Cblb |
A |
T |
16: 52,006,561 (GRCm39) |
K754N |
possibly damaging |
Het |
| Ccdc153 |
A |
T |
9: 44,157,062 (GRCm39) |
R135* |
probably null |
Het |
| Cel |
T |
C |
2: 28,447,720 (GRCm39) |
E398G |
possibly damaging |
Het |
| Clip1 |
G |
A |
5: 123,751,147 (GRCm39) |
|
probably benign |
Het |
| Dnase2b |
C |
A |
3: 146,288,210 (GRCm39) |
R295L |
probably benign |
Het |
| Dnm3 |
G |
A |
1: 161,839,376 (GRCm39) |
Q194* |
probably null |
Het |
| Dtx2 |
T |
A |
5: 136,040,954 (GRCm39) |
S120T |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 16,287,925 (GRCm39) |
S533T |
probably damaging |
Het |
| Foxred2 |
T |
C |
15: 77,836,598 (GRCm39) |
I306V |
probably benign |
Het |
| Gdpd5 |
A |
T |
7: 99,102,234 (GRCm39) |
T278S |
probably benign |
Het |
| Gli2 |
T |
A |
1: 118,772,200 (GRCm39) |
T502S |
probably damaging |
Het |
| Gm21830 |
A |
T |
2: 67,263,158 (GRCm39) |
|
probably null |
Het |
| Gm5617 |
T |
A |
9: 48,407,211 (GRCm39) |
I115N |
possibly damaging |
Het |
| Gpr75 |
G |
T |
11: 30,842,459 (GRCm39) |
A455S |
probably benign |
Het |
| Grin2b |
T |
C |
6: 135,710,916 (GRCm39) |
I877V |
probably damaging |
Het |
| Gsg1l2 |
G |
T |
11: 67,673,347 (GRCm39) |
C109F |
possibly damaging |
Het |
| H2-Q4 |
G |
A |
17: 35,602,287 (GRCm39) |
V341I |
possibly damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Kif5c |
A |
G |
2: 49,561,840 (GRCm39) |
K68R |
probably benign |
Het |
| Lct |
T |
A |
1: 128,232,109 (GRCm39) |
H580L |
probably damaging |
Het |
| Lrrtm4 |
A |
G |
6: 79,999,495 (GRCm39) |
I302M |
probably damaging |
Het |
| Mef2b |
A |
T |
8: 70,619,493 (GRCm39) |
R228W |
probably damaging |
Het |
| Mtus2 |
T |
A |
5: 148,013,382 (GRCm39) |
D58E |
probably benign |
Het |
| Myh15 |
T |
G |
16: 48,930,834 (GRCm39) |
S603A |
probably damaging |
Het |
| Or1x2 |
T |
C |
11: 50,918,420 (GRCm39) |
V197A |
probably benign |
Het |
| Or8d1 |
C |
T |
9: 38,766,744 (GRCm39) |
P129S |
probably damaging |
Het |
| Or8s2 |
A |
G |
15: 98,276,523 (GRCm39) |
I156T |
possibly damaging |
Het |
| P2rx4 |
G |
A |
5: 122,857,211 (GRCm39) |
C149Y |
probably null |
Het |
| Pramel51 |
A |
T |
12: 88,142,998 (GRCm39) |
C207S |
probably benign |
Het |
| Proca1 |
T |
A |
11: 78,092,683 (GRCm39) |
V43E |
possibly damaging |
Het |
| Rftn1 |
G |
T |
17: 50,301,486 (GRCm39) |
N454K |
probably benign |
Het |
| Rrp15 |
T |
C |
1: 186,453,743 (GRCm39) |
T235A |
probably benign |
Het |
| Serpina6 |
T |
C |
12: 103,620,221 (GRCm39) |
E176G |
possibly damaging |
Het |
| Shprh |
T |
G |
10: 11,042,301 (GRCm39) |
I761M |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,759,427 (GRCm39) |
|
probably benign |
Het |
| Snupn |
T |
C |
9: 56,864,345 (GRCm39) |
S15P |
probably damaging |
Het |
| Tbc1d15 |
A |
T |
10: 115,044,874 (GRCm39) |
Y509* |
probably null |
Het |
| Tcf4 |
T |
C |
18: 69,598,501 (GRCm39) |
V72A |
probably benign |
Het |
| Tdrd3 |
T |
C |
14: 87,714,899 (GRCm39) |
|
probably null |
Het |
| Tm9sf4 |
T |
A |
2: 153,029,576 (GRCm39) |
V175D |
probably benign |
Het |
| Vmn1r201 |
T |
C |
13: 22,659,092 (GRCm39) |
L102P |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,800,300 (GRCm39) |
N1788I |
possibly damaging |
Het |
| Xpc |
A |
C |
6: 91,469,992 (GRCm39) |
V744G |
probably damaging |
Het |
| Xrcc6 |
T |
C |
15: 81,921,708 (GRCm39) |
F178L |
probably damaging |
Het |
| Zbed6 |
A |
G |
1: 133,585,853 (GRCm39) |
S495P |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,317,624 (GRCm39) |
V1196A |
probably benign |
Het |
|
| Other mutations in Grik3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01135:Grik3
|
APN |
4 |
125,526,208 (GRCm39) |
missense |
probably benign |
|
|
IGL01534:Grik3
|
APN |
4 |
125,579,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01538:Grik3
|
APN |
4 |
125,587,829 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02276:Grik3
|
APN |
4 |
125,517,295 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02323:Grik3
|
APN |
4 |
125,579,783 (GRCm39) |
splice site |
probably benign |
|
|
IGL02475:Grik3
|
APN |
4 |
125,544,310 (GRCm39) |
missense |
probably benign |
|
|
IGL03198:Grik3
|
APN |
4 |
125,553,555 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03307:Grik3
|
APN |
4 |
125,535,347 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0054:Grik3
|
UTSW |
4 |
125,517,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Grik3
|
UTSW |
4 |
125,517,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0116:Grik3
|
UTSW |
4 |
125,564,349 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0208:Grik3
|
UTSW |
4 |
125,579,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0497:Grik3
|
UTSW |
4 |
125,517,303 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1295:Grik3
|
UTSW |
4 |
125,598,357 (GRCm39) |
splice site |
probably benign |
|
|
R1296:Grik3
|
UTSW |
4 |
125,598,357 (GRCm39) |
splice site |
probably benign |
|
|
R1515:Grik3
|
UTSW |
4 |
125,564,521 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1559:Grik3
|
UTSW |
4 |
125,601,790 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1617:Grik3
|
UTSW |
4 |
125,584,985 (GRCm39) |
missense |
probably benign |
|
|
R1848:Grik3
|
UTSW |
4 |
125,587,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2903:Grik3
|
UTSW |
4 |
125,564,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3440:Grik3
|
UTSW |
4 |
125,587,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3440:Grik3
|
UTSW |
4 |
125,587,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3442:Grik3
|
UTSW |
4 |
125,587,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3442:Grik3
|
UTSW |
4 |
125,587,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3842:Grik3
|
UTSW |
4 |
125,587,747 (GRCm39) |
splice site |
probably benign |
|
|
R4649:Grik3
|
UTSW |
4 |
125,544,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Grik3
|
UTSW |
4 |
125,584,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Grik3
|
UTSW |
4 |
125,584,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Grik3
|
UTSW |
4 |
125,564,382 (GRCm39) |
missense |
probably benign |
|
|
R5549:Grik3
|
UTSW |
4 |
125,579,838 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6221:Grik3
|
UTSW |
4 |
125,598,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6226:Grik3
|
UTSW |
4 |
125,553,582 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6306:Grik3
|
UTSW |
4 |
125,526,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6672:Grik3
|
UTSW |
4 |
125,517,309 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6682:Grik3
|
UTSW |
4 |
125,544,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6783:Grik3
|
UTSW |
4 |
125,526,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7390:Grik3
|
UTSW |
4 |
125,543,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7604:Grik3
|
UTSW |
4 |
125,517,428 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7790:Grik3
|
UTSW |
4 |
125,579,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7822:Grik3
|
UTSW |
4 |
125,550,190 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7952:Grik3
|
UTSW |
4 |
125,598,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8418:Grik3
|
UTSW |
4 |
125,579,835 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8769:Grik3
|
UTSW |
4 |
125,550,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9030:Grik3
|
UTSW |
4 |
125,526,185 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9243:Grik3
|
UTSW |
4 |
125,601,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9792:Grik3
|
UTSW |
4 |
125,526,315 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9793:Grik3
|
UTSW |
4 |
125,526,315 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1177:Grik3
|
UTSW |
4 |
125,544,299 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAACTGATGCCCAAAGCTC -3'
(R):5'- ACAGCTCTTCGTCACAGTTC -3'
Sequencing Primer
(F):5'- GATGCCCAAAGCTCTGTCTAC -3'
(R):5'- GGAGCAGAGCTCTGATTT -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation