Incidental Mutation 'R7876:Grik1'
ID |
608463 |
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 |
045928-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7876 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
87692788-88087153 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87720121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 719
(K719E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023652]
[ENSMUST00000072256]
[ENSMUST00000114137]
[ENSMUST00000211444]
[ENSMUST00000227986]
[ENSMUST00000228034]
[ENSMUST00000228188]
|
AlphaFold |
no structure available at present |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000023652 Gene: ENSMUSG00000022935 AA Change: K719E
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 |
|
SMART Domains |
Protein: ENSMUSP00000072107 Gene: ENSMUSG00000022935 AA Change: K719E
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 |
possibly damaging
Transcript: ENSMUST00000114137
AA Change: K648E
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000109773 Gene: ENSMUSG00000022935 AA Change: K648E
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 |
possibly damaging
Transcript: ENSMUST00000211444
AA Change: K719E
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227986
AA Change: K734E
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228034
AA Change: K734E
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228188
AA Change: K734E
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (56/56) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2a |
A |
G |
2: 48,760,439 (GRCm39) |
K65R |
probably benign |
Het |
Adprhl1 |
T |
C |
8: 13,273,509 (GRCm39) |
D1083G |
probably benign |
Het |
Aox1 |
C |
T |
1: 58,101,330 (GRCm39) |
Q434* |
probably null |
Het |
Atp13a5 |
T |
A |
16: 29,140,566 (GRCm39) |
N330I |
possibly damaging |
Het |
Brd8 |
A |
G |
18: 34,739,740 (GRCm39) |
F678L |
probably benign |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
C87436 |
T |
A |
6: 86,423,411 (GRCm39) |
|
probably null |
Het |
Cacna1h |
A |
T |
17: 25,594,225 (GRCm39) |
I2311K |
probably benign |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cux1 |
T |
C |
5: 136,392,161 (GRCm39) |
T187A |
probably benign |
Het |
Dip2b |
A |
G |
15: 100,088,922 (GRCm39) |
I1031V |
probably benign |
Het |
Efna5 |
T |
C |
17: 62,957,929 (GRCm39) |
N109S |
possibly damaging |
Het |
Fat2 |
A |
T |
11: 55,202,046 (GRCm39) |
S343T |
probably benign |
Het |
Fubp1 |
T |
C |
3: 151,937,928 (GRCm39) |
Y654H |
unknown |
Het |
Gbe1 |
G |
A |
16: 70,238,059 (GRCm39) |
V282I |
probably benign |
Het |
Grm6 |
A |
T |
11: 50,750,457 (GRCm39) |
Y540F |
probably damaging |
Het |
Hmcn1 |
C |
T |
1: 150,620,722 (GRCm39) |
V1163I |
probably benign |
Het |
Igkv4-53 |
T |
A |
6: 69,625,987 (GRCm39) |
Q60L |
possibly damaging |
Het |
Igkv4-59 |
A |
T |
6: 69,415,337 (GRCm39) |
S73T |
probably damaging |
Het |
Il1a |
A |
C |
2: 129,142,762 (GRCm39) |
W228G |
probably damaging |
Het |
Klk13 |
A |
G |
7: 43,370,403 (GRCm39) |
D22G |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,913,850 (GRCm39) |
C602S |
probably damaging |
Het |
Kras |
T |
C |
6: 145,170,848 (GRCm39) |
K176E |
probably benign |
Het |
Krtap5-4 |
G |
A |
7: 141,857,585 (GRCm39) |
C85Y |
unknown |
Het |
Map3k13 |
A |
G |
16: 21,741,069 (GRCm39) |
T799A |
probably benign |
Het |
Mfhas1 |
T |
C |
8: 36,056,697 (GRCm39) |
Y391H |
probably damaging |
Het |
Morf4l1 |
G |
A |
9: 89,975,859 (GRCm39) |
A311V |
possibly damaging |
Het |
Ms4a8a |
T |
A |
19: 11,056,848 (GRCm39) |
Q78L |
probably damaging |
Het |
Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
Nav3 |
T |
C |
10: 109,689,359 (GRCm39) |
N306S |
probably benign |
Het |
Ncapd3 |
T |
C |
9: 26,956,519 (GRCm39) |
|
probably null |
Het |
Nrg2 |
T |
A |
18: 36,330,140 (GRCm39) |
Y25F |
unknown |
Het |
Nup153 |
C |
T |
13: 46,835,084 (GRCm39) |
S1407N |
probably benign |
Het |
Or2c1 |
T |
A |
16: 3,656,658 (GRCm39) |
|
probably null |
Het |
Or4c99 |
A |
G |
2: 88,329,999 (GRCm39) |
Y190C |
probably damaging |
Het |
Or5b123 |
A |
G |
19: 13,596,628 (GRCm39) |
Y34C |
probably damaging |
Het |
Pcf11 |
A |
C |
7: 92,310,534 (GRCm39) |
S485A |
probably damaging |
Het |
Pde8a |
A |
G |
7: 80,973,819 (GRCm39) |
D592G |
probably damaging |
Het |
Perm1 |
G |
A |
4: 156,302,046 (GRCm39) |
G197R |
probably damaging |
Het |
Pigo |
A |
T |
4: 43,020,671 (GRCm39) |
M757K |
probably benign |
Het |
Pls1 |
G |
A |
9: 95,667,558 (GRCm39) |
Q117* |
probably null |
Het |
Plscr2 |
T |
C |
9: 92,169,781 (GRCm39) |
V77A |
probably benign |
Het |
Polm |
T |
C |
11: 5,781,695 (GRCm39) |
E267G |
probably benign |
Het |
Pomgnt1 |
A |
T |
4: 116,015,106 (GRCm39) |
K519M |
probably damaging |
Het |
Ralyl |
G |
A |
3: 14,104,850 (GRCm39) |
|
probably null |
Het |
Rhbdd3 |
C |
T |
11: 5,055,832 (GRCm39) |
T338I |
possibly damaging |
Het |
Rnf31 |
T |
C |
14: 55,830,534 (GRCm39) |
|
probably null |
Het |
Slc51a |
A |
T |
16: 32,297,601 (GRCm39) |
S99T |
probably benign |
Het |
Sorbs1 |
A |
T |
19: 40,285,032 (GRCm39) |
L700H |
probably damaging |
Het |
Tdrd7 |
G |
A |
4: 46,025,684 (GRCm39) |
V835I |
probably benign |
Het |
Tmcc3 |
T |
C |
10: 94,414,397 (GRCm39) |
V64A |
probably benign |
Het |
Tmprss5 |
A |
G |
9: 49,020,391 (GRCm39) |
S140G |
probably benign |
Het |
Tspan11 |
G |
T |
6: 127,900,629 (GRCm39) |
V67F |
possibly damaging |
Het |
Usp42 |
T |
C |
5: 143,707,426 (GRCm39) |
T252A |
probably damaging |
Het |
Vmn2r97 |
A |
T |
17: 19,149,326 (GRCm39) |
E238V |
probably damaging |
Het |
Wdpcp |
T |
A |
11: 21,661,486 (GRCm39) |
W253R |
probably benign |
Het |
Zdhhc23 |
A |
T |
16: 43,789,663 (GRCm39) |
V375E |
probably damaging |
Het |
Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably damaging |
Het |
Zmym1 |
A |
T |
4: 126,941,496 (GRCm39) |
M964K |
probably 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 |
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'- GAATACTTGTAATCAACATCGCCC -3'
(R):5'- TCCCACGCACAGAGAGTTTC -3'
Sequencing Primer
(F):5'- GCCCCAACTTAGCCTTGG -3'
(R):5'- ACGCACAGAGAGTTTCCCCTTTAC -3'
|
Posted On |
2019-12-20 |