Incidental Mutation 'R8922:Grik1'
ID |
679366 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grik1
|
Ensembl Gene |
ENSMUSG00000022935 |
Gene Name |
glutamate receptor, ionotropic, kainate 1 |
Synonyms |
Glur-5, GluK5, A830007B11Rik, Glurbeta1, D16Ium24, D16Ium24e, Glur5 |
MMRRC Submission |
068767-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8922 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
87692788-88087153 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 87693167 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 879
(S879A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023652]
[ENSMUST00000072256]
[ENSMUST00000227986]
[ENSMUST00000228034]
[ENSMUST00000228188]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000023652
AA Change: S879A
|
SMART Domains |
Protein: ENSMUSP00000023652 Gene: ENSMUSG00000022935 AA Change: S879A
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
14 |
357 |
4.7e-69 |
PFAM |
Pfam:Peripla_BP_6
|
48 |
347 |
5.1e-11 |
PFAM |
PBPe
|
394 |
762 |
2.4e-130 |
SMART |
Lig_chan-Glu_bd
|
404 |
468 |
6.34e-31 |
SMART |
Blast:PBPe
|
770 |
815 |
2e-16 |
BLAST |
low complexity region
|
829 |
850 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000072256
AA Change: S908A
|
SMART Domains |
Protein: ENSMUSP00000072107 Gene: ENSMUSG00000022935 AA Change: S908A
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
14 |
357 |
2.6e-72 |
PFAM |
Pfam:Peripla_BP_6
|
49 |
347 |
3.4e-10 |
PFAM |
PBPe
|
394 |
762 |
2.4e-130 |
SMART |
Lig_chan-Glu_bd
|
404 |
468 |
6.34e-31 |
SMART |
Blast:PBPe
|
770 |
817 |
1e-17 |
BLAST |
low complexity region
|
858 |
879 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227986
AA Change: S923A
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228034
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228188
AA Change: S894A
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (78/78) |
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 (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for disruptions in this gene display subtile abnormalities in the electrophysiology of neurons in the brain. Response to chemical pain stimuli is also reduced. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933402J07Rik |
A |
G |
8: 88,295,177 (GRCm39) |
D105G |
possibly damaging |
Het |
Abhd14b |
T |
C |
9: 106,328,835 (GRCm39) |
|
probably null |
Het |
Acot1 |
C |
T |
12: 84,064,085 (GRCm39) |
Q398* |
probably null |
Het |
Adam26b |
A |
T |
8: 43,973,216 (GRCm39) |
D595E |
probably damaging |
Het |
Aldh1l1 |
T |
A |
6: 90,536,256 (GRCm39) |
F54I |
probably damaging |
Het |
Arhgap33 |
C |
T |
7: 30,223,417 (GRCm39) |
E871K |
probably damaging |
Het |
Aspg |
A |
T |
12: 112,089,830 (GRCm39) |
D456V |
possibly damaging |
Het |
Cacna1b |
A |
C |
2: 24,622,340 (GRCm39) |
S215A |
possibly damaging |
Het |
Car3 |
A |
T |
3: 14,931,952 (GRCm39) |
T108S |
|
Het |
Ccdc91 |
C |
T |
6: 147,412,358 (GRCm39) |
Q23* |
probably null |
Het |
Cd300lg |
A |
T |
11: 101,945,028 (GRCm39) |
I413F |
probably damaging |
Het |
Ces2h |
T |
A |
8: 105,744,756 (GRCm39) |
M378K |
probably benign |
Het |
Cfap44 |
C |
T |
16: 44,272,030 (GRCm39) |
T1261I |
probably benign |
Het |
Cir1 |
G |
A |
2: 73,118,053 (GRCm39) |
S164L |
possibly damaging |
Het |
Clasp2 |
A |
T |
9: 113,725,728 (GRCm39) |
K790* |
probably null |
Het |
Cpne8 |
A |
T |
15: 90,456,213 (GRCm39) |
D183E |
probably damaging |
Het |
Dhrs13 |
A |
G |
11: 77,923,425 (GRCm39) |
I48V |
possibly damaging |
Het |
Dpp8 |
G |
T |
9: 64,981,793 (GRCm39) |
V692L |
probably benign |
Het |
Exoc2 |
A |
T |
13: 31,055,838 (GRCm39) |
I660N |
probably benign |
Het |
Exosc5 |
T |
C |
7: 25,363,673 (GRCm39) |
V88A |
probably benign |
Het |
Extl3 |
G |
A |
14: 65,292,255 (GRCm39) |
T856I |
probably damaging |
Het |
Flnc |
T |
C |
6: 29,456,835 (GRCm39) |
V2277A |
probably damaging |
Het |
Frmd8 |
A |
G |
19: 5,923,295 (GRCm39) |
I52T |
probably benign |
Het |
Gm8947 |
C |
T |
1: 151,068,655 (GRCm39) |
R163C |
probably benign |
Het |
Golga7 |
A |
T |
8: 23,740,288 (GRCm39) |
C81S |
probably damaging |
Het |
Helz |
A |
G |
11: 107,539,985 (GRCm39) |
T1002A |
possibly damaging |
Het |
Hes1 |
T |
A |
16: 29,884,725 (GRCm39) |
L62* |
probably null |
Het |
Hmgn2-ps |
A |
G |
8: 73,058,953 (GRCm39) |
S25P |
probably benign |
Het |
Hnrnpdl |
A |
T |
5: 100,184,419 (GRCm39) |
Y371* |
probably null |
Het |
Ifna11 |
T |
C |
4: 88,738,431 (GRCm39) |
V79A |
probably benign |
Het |
Itga4 |
A |
G |
2: 79,085,938 (GRCm39) |
|
probably benign |
Het |
Kap |
T |
C |
6: 133,827,054 (GRCm39) |
I110V |
probably benign |
Het |
Lmbrd2 |
A |
G |
15: 9,172,231 (GRCm39) |
K342E |
probably damaging |
Het |
Lrba |
A |
G |
3: 86,263,973 (GRCm39) |
D1549G |
probably damaging |
Het |
Luzp1 |
C |
T |
4: 136,270,233 (GRCm39) |
H819Y |
probably damaging |
Het |
Mmp21 |
T |
A |
7: 133,276,000 (GRCm39) |
|
probably benign |
Het |
Mto1 |
T |
C |
9: 78,377,928 (GRCm39) |
V590A |
probably benign |
Het |
Myom3 |
T |
C |
4: 135,492,222 (GRCm39) |
L122P |
probably damaging |
Het |
Nat10 |
T |
C |
2: 103,582,938 (GRCm39) |
Y161C |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,163,939 (GRCm39) |
V197A |
unknown |
Het |
Opn4 |
A |
C |
14: 34,314,955 (GRCm39) |
S439R |
probably benign |
Het |
Or12j3 |
T |
A |
7: 139,953,389 (GRCm39) |
I45F |
possibly damaging |
Het |
Or4c3d |
C |
A |
2: 89,882,695 (GRCm39) |
|
probably benign |
Het |
Or56a41 |
C |
A |
7: 104,740,469 (GRCm39) |
V126L |
probably benign |
Het |
Or5b12b |
A |
G |
19: 12,861,458 (GRCm39) |
Y71C |
probably damaging |
Het |
Or5p75-ps1 |
T |
A |
7: 108,107,957 (GRCm39) |
D231E |
unknown |
Het |
Pik3c2a |
G |
T |
7: 116,017,659 (GRCm39) |
Q33K |
probably damaging |
Het |
Pm20d1 |
G |
T |
1: 131,728,853 (GRCm39) |
S93I |
possibly damaging |
Het |
Pou3f1 |
C |
T |
4: 124,552,176 (GRCm39) |
A226V |
possibly damaging |
Het |
Ppl |
T |
C |
16: 4,923,815 (GRCm39) |
E191G |
probably benign |
Het |
Prkag1 |
T |
C |
15: 98,712,147 (GRCm39) |
T208A |
probably benign |
Het |
Rb1cc1 |
T |
C |
1: 6,319,194 (GRCm39) |
I871T |
probably benign |
Het |
Rhd |
T |
C |
4: 134,612,627 (GRCm39) |
S293P |
probably damaging |
Het |
Rprd2 |
G |
T |
3: 95,687,896 (GRCm39) |
T252K |
probably damaging |
Het |
Scn5a |
C |
A |
9: 119,363,766 (GRCm39) |
R458L |
probably benign |
Het |
Scrib |
C |
T |
15: 75,933,587 (GRCm39) |
|
probably null |
Het |
Sec24d |
G |
A |
3: 123,144,488 (GRCm39) |
G655E |
probably damaging |
Het |
Serpine3 |
A |
G |
14: 62,910,503 (GRCm39) |
R199G |
probably benign |
Het |
Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
Slc44a1 |
A |
G |
4: 53,544,545 (GRCm39) |
K419E |
probably damaging |
Het |
Speer4a3 |
C |
T |
5: 26,156,594 (GRCm39) |
M128I |
possibly damaging |
Het |
Styxl1 |
T |
C |
5: 135,776,634 (GRCm39) |
E318G |
probably benign |
Het |
Tcstv2a |
A |
G |
13: 120,725,666 (GRCm39) |
E110G |
probably benign |
Het |
Tesmin |
A |
G |
19: 3,454,163 (GRCm39) |
K346E |
probably damaging |
Het |
Thpo |
A |
T |
16: 20,547,680 (GRCm39) |
L6Q |
unknown |
Het |
Tlr2 |
T |
A |
3: 83,745,075 (GRCm39) |
E336V |
probably benign |
Het |
Tmem167b |
A |
G |
3: 108,467,541 (GRCm39) |
L35P |
probably benign |
Het |
Topaz1 |
A |
T |
9: 122,625,101 (GRCm39) |
E1395D |
possibly damaging |
Het |
Trim29 |
G |
T |
9: 43,233,636 (GRCm39) |
R434L |
possibly damaging |
Het |
Trim68 |
T |
C |
7: 102,327,550 (GRCm39) |
I468V |
probably benign |
Het |
Ttn |
C |
A |
2: 76,542,628 (GRCm39) |
V33453F |
probably benign |
Het |
Ubac1 |
A |
T |
2: 25,896,621 (GRCm39) |
V298D |
probably damaging |
Het |
Vmn1r185 |
C |
A |
7: 26,310,825 (GRCm39) |
V227F |
probably damaging |
Het |
Vmn1r21 |
T |
A |
6: 57,820,829 (GRCm39) |
H205L |
probably damaging |
Het |
Zbtb16 |
A |
G |
9: 48,743,857 (GRCm39) |
Y152H |
probably benign |
Het |
Zbtb20 |
A |
T |
16: 43,397,968 (GRCm39) |
N19I |
probably damaging |
Het |
Zfp438 |
A |
G |
18: 5,213,422 (GRCm39) |
M512T |
possibly damaging |
Het |
|
Other mutations in Grik1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01143:Grik1
|
APN |
16 |
87,754,488 (GRCm39) |
splice site |
probably null |
|
IGL01347:Grik1
|
APN |
16 |
87,754,481 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01612:Grik1
|
APN |
16 |
87,743,623 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02010:Grik1
|
APN |
16 |
87,848,396 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02059:Grik1
|
APN |
16 |
87,852,937 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02068:Grik1
|
APN |
16 |
87,737,539 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL02200:Grik1
|
APN |
16 |
87,737,453 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02206:Grik1
|
APN |
16 |
87,732,808 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02375:Grik1
|
APN |
16 |
87,743,444 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02598:Grik1
|
APN |
16 |
87,744,872 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02686:Grik1
|
APN |
16 |
87,806,649 (GRCm39) |
splice site |
probably null |
|
IGL02890:Grik1
|
APN |
16 |
87,693,690 (GRCm39) |
intron |
probably benign |
|
R0096:Grik1
|
UTSW |
16 |
87,831,114 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0096:Grik1
|
UTSW |
16 |
87,831,114 (GRCm39) |
missense |
possibly damaging |
0.55 |
R0387:Grik1
|
UTSW |
16 |
87,831,238 (GRCm39) |
splice site |
probably benign |
|
R0613:Grik1
|
UTSW |
16 |
87,848,221 (GRCm39) |
critical splice donor site |
probably null |
|
R1087:Grik1
|
UTSW |
16 |
87,803,265 (GRCm39) |
missense |
probably benign |
0.00 |
R1694:Grik1
|
UTSW |
16 |
87,746,956 (GRCm39) |
missense |
probably damaging |
0.96 |
R1905:Grik1
|
UTSW |
16 |
87,693,754 (GRCm39) |
nonsense |
probably null |
|
R1928:Grik1
|
UTSW |
16 |
87,848,241 (GRCm39) |
missense |
probably damaging |
0.99 |
R2157:Grik1
|
UTSW |
16 |
87,853,012 (GRCm39) |
missense |
probably damaging |
1.00 |
R3122:Grik1
|
UTSW |
16 |
87,803,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R3906:Grik1
|
UTSW |
16 |
87,803,337 (GRCm39) |
missense |
probably benign |
0.00 |
R4194:Grik1
|
UTSW |
16 |
87,743,616 (GRCm39) |
missense |
probably benign |
0.45 |
R4343:Grik1
|
UTSW |
16 |
87,693,140 (GRCm39) |
missense |
probably benign |
0.00 |
R4349:Grik1
|
UTSW |
16 |
87,754,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R4416:Grik1
|
UTSW |
16 |
87,848,349 (GRCm39) |
missense |
probably benign |
0.00 |
R4423:Grik1
|
UTSW |
16 |
87,720,088 (GRCm39) |
missense |
probably benign |
0.10 |
R4660:Grik1
|
UTSW |
16 |
87,720,019 (GRCm39) |
missense |
probably damaging |
1.00 |
R4804:Grik1
|
UTSW |
16 |
87,754,457 (GRCm39) |
missense |
probably damaging |
0.99 |
R5052:Grik1
|
UTSW |
16 |
87,746,986 (GRCm39) |
missense |
probably benign |
0.01 |
R5126:Grik1
|
UTSW |
16 |
87,744,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R5334:Grik1
|
UTSW |
16 |
87,720,082 (GRCm39) |
frame shift |
probably null |
|
R5335:Grik1
|
UTSW |
16 |
87,720,082 (GRCm39) |
frame shift |
probably null |
|
R5337:Grik1
|
UTSW |
16 |
87,720,082 (GRCm39) |
frame shift |
probably null |
|
R5479:Grik1
|
UTSW |
16 |
87,732,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R6141:Grik1
|
UTSW |
16 |
87,693,760 (GRCm39) |
missense |
probably benign |
0.00 |
R6188:Grik1
|
UTSW |
16 |
87,852,959 (GRCm39) |
missense |
probably benign |
0.06 |
R6335:Grik1
|
UTSW |
16 |
87,744,794 (GRCm39) |
missense |
probably damaging |
1.00 |
R6610:Grik1
|
UTSW |
16 |
87,831,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R6737:Grik1
|
UTSW |
16 |
87,848,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R7275:Grik1
|
UTSW |
16 |
87,709,708 (GRCm39) |
missense |
probably benign |
0.06 |
R7876:Grik1
|
UTSW |
16 |
87,720,121 (GRCm39) |
missense |
|
|
R8021:Grik1
|
UTSW |
16 |
87,711,110 (GRCm39) |
missense |
|
|
R8027:Grik1
|
UTSW |
16 |
87,732,893 (GRCm39) |
missense |
|
|
R8096:Grik1
|
UTSW |
16 |
87,803,355 (GRCm39) |
missense |
|
|
R8266:Grik1
|
UTSW |
16 |
87,744,867 (GRCm39) |
missense |
probably benign |
|
R8515:Grik1
|
UTSW |
16 |
87,720,170 (GRCm39) |
nonsense |
probably null |
|
R9097:Grik1
|
UTSW |
16 |
87,732,796 (GRCm39) |
missense |
|
|
R9125:Grik1
|
UTSW |
16 |
87,852,956 (GRCm39) |
missense |
|
|
R9273:Grik1
|
UTSW |
16 |
87,848,379 (GRCm39) |
missense |
|
|
R9286:Grik1
|
UTSW |
16 |
87,848,315 (GRCm39) |
missense |
|
|
R9491:Grik1
|
UTSW |
16 |
87,746,995 (GRCm39) |
missense |
|
|
RF016:Grik1
|
UTSW |
16 |
87,831,074 (GRCm39) |
missense |
|
|
RF022:Grik1
|
UTSW |
16 |
87,693,225 (GRCm39) |
missense |
|
|
X0018:Grik1
|
UTSW |
16 |
87,743,484 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Grik1
|
UTSW |
16 |
87,743,572 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTGGAAACATATCTCCTGTTCC -3'
(R):5'- GAGCTAACTTACTGCCTCAGTTTC -3'
Sequencing Primer
(F):5'- CTCAGAAATCTGTCCTCCAAATATG -3'
(R):5'- CCTTAAGTATAAAATACAGGTGGCC -3'
|
Posted On |
2021-08-02 |