Incidental Mutation 'R5335:Grik1'
| ID |
423496 |
| 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 |
042916-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5335 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
87692788-88087153 bp(-) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CGG to CGGG
at 87720082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023652]
[ENSMUST00000072256]
[ENSMUST00000114137]
[ENSMUST00000211444]
[ENSMUST00000227986]
[ENSMUST00000228034]
[ENSMUST00000228188]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023652
|
| SMART Domains |
Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935
| 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 |
probably null
Transcript: ENSMUST00000072256
|
| SMART Domains |
Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935
| 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 null
Transcript: ENSMUST00000114137
|
| SMART Domains |
Protein: ENSMUSP00000109773
Gene: ENSMUSG00000022935
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
1 |
325 |
5.4e-63 |
PFAM |
|
Pfam:Peripla_BP_6
|
18 |
315 |
5.1e-11 |
PFAM |
|
PBPe
|
362 |
730 |
2.4e-130 |
SMART |
|
Lig_chan-Glu_bd
|
372 |
436 |
6.34e-31 |
SMART |
|
Blast:PBPe
|
738 |
783 |
2e-16 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210700
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211444
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000227986
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228034
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000228188
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010003K11Rik |
A |
G |
19: 4,548,292 (GRCm39) |
W86R |
probably damaging |
Het |
| Ankrd6 |
T |
C |
4: 32,818,651 (GRCm39) |
E225G |
probably damaging |
Het |
| Atxn10 |
A |
G |
15: 85,220,785 (GRCm39) |
|
probably null |
Het |
| Bcas2 |
A |
G |
3: 103,082,951 (GRCm39) |
I146V |
probably damaging |
Het |
| C2cd6 |
T |
A |
1: 59,043,393 (GRCm39) |
|
noncoding transcript |
Het |
| Cachd1 |
G |
A |
4: 100,825,282 (GRCm39) |
V579I |
possibly damaging |
Het |
| Col11a1 |
A |
G |
3: 113,888,889 (GRCm39) |
T311A |
unknown |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,060 (GRCm39) |
L134F |
probably benign |
Het |
| Cyp2j11 |
T |
C |
4: 96,195,589 (GRCm39) |
H369R |
probably damaging |
Het |
| Dis3 |
A |
G |
14: 99,335,089 (GRCm39) |
V171A |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,601,695 (GRCm39) |
N3718D |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,003,340 (GRCm39) |
I541V |
probably damaging |
Het |
| Eif3i |
T |
C |
4: 129,488,979 (GRCm39) |
D86G |
probably benign |
Het |
| Epc1 |
C |
T |
18: 6,490,689 (GRCm39) |
|
probably benign |
Het |
| Epc2 |
A |
G |
2: 49,403,242 (GRCm39) |
N110S |
probably benign |
Het |
| Epha8 |
A |
T |
4: 136,659,246 (GRCm39) |
L831Q |
probably damaging |
Het |
| Esd |
G |
T |
14: 74,979,553 (GRCm39) |
R119I |
probably damaging |
Het |
| F2 |
T |
C |
2: 91,465,277 (GRCm39) |
K96E |
possibly damaging |
Het |
| Fcgbp |
T |
C |
7: 27,789,159 (GRCm39) |
V575A |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gemin6 |
T |
C |
17: 80,533,184 (GRCm39) |
V39A |
probably damaging |
Het |
| Glmp |
G |
T |
3: 88,233,962 (GRCm39) |
|
probably benign |
Het |
| Gm10306 |
C |
A |
4: 94,445,044 (GRCm39) |
|
probably benign |
Het |
| Gm4846 |
A |
T |
1: 166,325,022 (GRCm39) |
L23* |
probably null |
Het |
| Ifi203 |
T |
C |
1: 173,754,485 (GRCm39) |
T749A |
possibly damaging |
Het |
| Kcnip2 |
C |
A |
19: 45,782,685 (GRCm39) |
A133S |
probably benign |
Het |
| Limch1 |
A |
T |
5: 67,039,300 (GRCm39) |
I76F |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,739,077 (GRCm39) |
|
probably null |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtcl3 |
A |
T |
10: 29,023,102 (GRCm39) |
I150L |
probably benign |
Het |
| Myh7 |
A |
G |
14: 55,224,020 (GRCm39) |
|
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,294,566 (GRCm39) |
Y16N |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,586,621 (GRCm39) |
D113G |
possibly damaging |
Het |
| Or1j17 |
A |
T |
2: 36,578,106 (GRCm39) |
I31F |
probably benign |
Het |
| Or1x2 |
A |
C |
11: 50,918,161 (GRCm39) |
N111H |
probably benign |
Het |
| Or2ag18 |
A |
C |
7: 106,404,941 (GRCm39) |
S243A |
probably damaging |
Het |
| Or2b6 |
A |
C |
13: 21,822,949 (GRCm39) |
V248G |
probably damaging |
Het |
| Or51f1d |
A |
C |
7: 102,700,742 (GRCm39) |
D79A |
probably damaging |
Het |
| Or52s19 |
A |
C |
7: 103,007,729 (GRCm39) |
L224R |
probably damaging |
Het |
| Or5j1 |
T |
G |
2: 86,879,509 (GRCm39) |
K24Q |
probably damaging |
Het |
| Pcdhb1 |
G |
T |
18: 37,400,308 (GRCm39) |
C753F |
probably benign |
Het |
| Phip |
T |
C |
9: 82,782,809 (GRCm39) |
S879G |
possibly damaging |
Het |
| Pi4k2b |
A |
G |
5: 52,899,098 (GRCm39) |
D13G |
possibly damaging |
Het |
| Ptpn18 |
A |
T |
1: 34,502,259 (GRCm39) |
I68F |
probably damaging |
Het |
| Rnf168 |
C |
T |
16: 32,117,402 (GRCm39) |
T321I |
possibly damaging |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Srgap1 |
C |
T |
10: 121,621,282 (GRCm39) |
|
probably benign |
Het |
| Sry |
A |
T |
Y: 2,663,647 (GRCm39) |
H4Q |
probably benign |
Het |
| Taf2 |
G |
A |
15: 54,909,136 (GRCm39) |
A703V |
probably benign |
Het |
| Taf5l |
A |
G |
8: 124,730,390 (GRCm39) |
F65L |
probably damaging |
Het |
| Tcp10b |
T |
C |
17: 13,281,954 (GRCm39) |
|
probably null |
Het |
| Timm44 |
A |
T |
8: 4,316,814 (GRCm39) |
I273N |
probably damaging |
Het |
| Tspan4 |
A |
G |
7: 141,069,528 (GRCm39) |
T43A |
probably damaging |
Het |
| Ube2r2 |
T |
C |
4: 41,190,846 (GRCm39) |
|
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,667,754 (GRCm39) |
T195A |
possibly damaging |
Het |
| Vmn1r197 |
T |
C |
13: 22,512,361 (GRCm39) |
I94T |
probably damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,434,673 (GRCm39) |
I677K |
probably damaging |
Het |
| Zfp853 |
T |
A |
5: 143,274,318 (GRCm39) |
H434L |
unknown |
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 |
|
|
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 |
|
|
R8922:Grik1
|
UTSW |
16 |
87,693,167 (GRCm39) |
missense |
unknown |
|
|
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'- TGAATACTTGTAATCAACATCGCCC -3'
(R):5'- AGATTCCCACGCACAGAGAG -3'
Sequencing Primer
(F):5'- GCCCCAACTTAGCCTTGG -3'
(R):5'- TTTGACCCACTAGGATGATGAACAGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation