Incidental Mutation 'R8681:Grik5'
| ID |
661742 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grik5
|
| Ensembl Gene |
ENSMUSG00000003378 |
| Gene Name |
glutamate receptor, ionotropic, kainate 5 (gamma 2) |
| Synonyms |
KA2, GluRgamma2 |
| MMRRC Submission |
068536-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.155)
|
| Stock # |
R8681 (G1)
|
| Quality Score |
90.0077 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
24709274-24771771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24709897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 946
(A946V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003468]
[ENSMUST00000080882]
[ENSMUST00000102858]
[ENSMUST00000196684]
[ENSMUST00000205328]
[ENSMUST00000206134]
|
| AlphaFold |
Q61626 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003468
AA Change: A946V
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000003468
Gene: ENSMUSG00000003378
AA Change: A946V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
40 |
381 |
3.4e-64 |
PFAM |
|
PBPe
|
416 |
785 |
3.7e-122 |
SMART |
|
Lig_chan-Glu_bd
|
426 |
490 |
1.65e-29 |
SMART |
|
transmembrane domain
|
804 |
823 |
N/A |
INTRINSIC |
|
low complexity region
|
859 |
872 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
921 |
N/A |
INTRINSIC |
|
low complexity region
|
962 |
973 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080882
|
| SMART Domains |
Protein: ENSMUSP00000079691
Gene: ENSMUSG00000040907
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
Cation_ATPase_N
|
32 |
106 |
2.41e-22 |
SMART |
|
Pfam:E1-E2_ATPase
|
125 |
356 |
6.3e-64 |
PFAM |
|
Pfam:Hydrolase
|
360 |
719 |
2.6e-32 |
PFAM |
|
Pfam:HAD
|
363 |
716 |
4.7e-18 |
PFAM |
|
Pfam:Hydrolase_like2
|
416 |
511 |
5.7e-26 |
PFAM |
|
Pfam:Cation_ATPase_C
|
789 |
998 |
3.5e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102858
|
| SMART Domains |
Protein: ENSMUSP00000099922
Gene: ENSMUSG00000040907
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
Cation_ATPase_N
|
32 |
106 |
2.41e-22 |
SMART |
|
Pfam:E1-E2_ATPase
|
124 |
355 |
4.6e-60 |
PFAM |
|
Pfam:Hydrolase
|
360 |
719 |
5.7e-20 |
PFAM |
|
Pfam:HAD
|
363 |
716 |
4.5e-19 |
PFAM |
|
Pfam:Cation_ATPase
|
416 |
511 |
5.1e-25 |
PFAM |
|
Pfam:Cation_ATPase_C
|
789 |
998 |
1.4e-46 |
PFAM |
|
low complexity region
|
1030 |
1047 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196684
|
| SMART Domains |
Protein: ENSMUSP00000143735
Gene: ENSMUSG00000040907
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
|
Cation_ATPase_N
|
45 |
119 |
1.9e-26 |
SMART |
|
Pfam:E1-E2_ATPase
|
137 |
368 |
4e-58 |
PFAM |
|
Pfam:Hydrolase
|
373 |
732 |
3.8e-18 |
PFAM |
|
Pfam:HAD
|
376 |
729 |
3.8e-17 |
PFAM |
|
Pfam:Cation_ATPase
|
429 |
524 |
5.2e-23 |
PFAM |
|
Pfam:Cation_ATPase_C
|
802 |
1011 |
2.5e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205328
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206134
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the glutamate-gated ionic channel family. Glutamate functions as the major excitatory neurotransmitter in the central nervous system through activation of ligand-gated ion channels and G protein-coupled membrane receptors. The protein encoded by this gene forms functional heteromeric kainate-preferring ionic channels with the subunits encoded by related gene family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for one allele display abnormal hippocampal synapse function. Mice homozygous for a second allele display decreased thermal nociception, increased startle response and increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
G |
8: 87,231,908 (GRCm39) |
V1347A |
possibly damaging |
Het |
| Adam32 |
G |
A |
8: 25,327,811 (GRCm39) |
T750I |
unknown |
Het |
| Adcy1 |
T |
C |
11: 7,111,328 (GRCm39) |
I873T |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,817,899 (GRCm39) |
D438G |
probably null |
Het |
| Anks1b |
T |
A |
10: 89,885,868 (GRCm39) |
M188K |
probably damaging |
Het |
| Aopep |
T |
C |
13: 63,338,373 (GRCm39) |
F583S |
probably damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,439,074 (GRCm39) |
Y477C |
unknown |
Het |
| Cep112 |
T |
C |
11: 108,316,478 (GRCm39) |
|
probably null |
Het |
| Clu |
T |
C |
14: 66,218,406 (GRCm39) |
V422A |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,038,600 (GRCm39) |
L1050P |
probably damaging |
Het |
| Col23a1 |
A |
T |
11: 51,458,756 (GRCm39) |
T298S |
possibly damaging |
Het |
| Cyp26c1 |
A |
T |
19: 37,675,065 (GRCm39) |
T129S |
probably damaging |
Het |
| Cyp2c38 |
A |
C |
19: 39,390,135 (GRCm39) |
V355G |
possibly damaging |
Het |
| Cyp4a30b |
G |
A |
4: 115,314,942 (GRCm39) |
V175M |
possibly damaging |
Het |
| Cyp7a1 |
A |
T |
4: 6,271,207 (GRCm39) |
N316K |
probably benign |
Het |
| Dcaf17 |
T |
A |
2: 70,886,913 (GRCm39) |
Y67* |
probably null |
Het |
| Dll3 |
T |
C |
7: 27,994,270 (GRCm39) |
D389G |
probably damaging |
Het |
| Fbxo33 |
A |
G |
12: 59,265,830 (GRCm39) |
F146L |
probably benign |
Het |
| Gm10118 |
C |
T |
10: 63,762,756 (GRCm39) |
V61M |
unknown |
Het |
| Gm9611 |
T |
C |
14: 42,118,026 (GRCm39) |
D102G |
|
Het |
| Il17c |
A |
G |
8: 123,150,207 (GRCm39) |
D150G |
possibly damaging |
Het |
| Ino80e |
A |
G |
7: 126,460,893 (GRCm39) |
L22P |
probably damaging |
Het |
| Kcnh2 |
G |
T |
5: 24,536,981 (GRCm39) |
T201K |
probably benign |
Het |
| Klrb1 |
A |
C |
6: 128,687,012 (GRCm39) |
N173K |
possibly damaging |
Het |
| Kmt2d |
T |
A |
15: 98,743,948 (GRCm39) |
Q3737H |
unknown |
Het |
| Lemd3 |
T |
C |
10: 120,767,728 (GRCm39) |
D682G |
possibly damaging |
Het |
| Lilra5 |
T |
C |
7: 4,241,216 (GRCm39) |
V51A |
probably benign |
Het |
| Lrrc25 |
G |
A |
8: 71,070,314 (GRCm39) |
V32I |
possibly damaging |
Het |
| Mdh1b |
T |
A |
1: 63,754,360 (GRCm39) |
M403L |
probably benign |
Het |
| Mms19 |
G |
A |
19: 41,937,915 (GRCm39) |
L765F |
probably damaging |
Het |
| Msx3 |
T |
A |
7: 139,628,900 (GRCm39) |
T5S |
probably benign |
Het |
| Myh13 |
A |
C |
11: 67,242,960 (GRCm39) |
I958L |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 113,021,429 (GRCm39) |
|
probably null |
Het |
| Myo9a |
G |
A |
9: 59,775,394 (GRCm39) |
V1002I |
probably benign |
Het |
| Neb |
T |
C |
2: 52,127,048 (GRCm39) |
K379R |
probably damaging |
Het |
| Nsmce2 |
A |
G |
15: 59,473,208 (GRCm39) |
S216G |
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,591,263 (GRCm39) |
E246G |
probably damaging |
Het |
| Or11h7 |
A |
T |
14: 50,890,801 (GRCm39) |
M36L |
probably benign |
Het |
| Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
| Pkp2 |
A |
T |
16: 16,048,545 (GRCm39) |
M317L |
probably benign |
Het |
| Pogz |
T |
A |
3: 94,768,234 (GRCm39) |
H137Q |
probably damaging |
Het |
| Prrx2 |
G |
T |
2: 30,735,519 (GRCm39) |
D25Y |
unknown |
Het |
| Ptprf |
T |
C |
4: 118,088,844 (GRCm39) |
D653G |
probably benign |
Het |
| Rps6kl1 |
T |
A |
12: 85,194,629 (GRCm39) |
E94V |
probably damaging |
Het |
| Slc44a1 |
A |
T |
4: 53,481,510 (GRCm39) |
D27V |
probably damaging |
Het |
| Slc44a4 |
A |
G |
17: 35,147,253 (GRCm39) |
I549V |
possibly damaging |
Het |
| Slc8a3 |
T |
C |
12: 81,361,914 (GRCm39) |
T302A |
probably benign |
Het |
| Spic |
T |
A |
10: 88,511,847 (GRCm39) |
K136N |
possibly damaging |
Het |
| Stk36 |
T |
C |
1: 74,661,392 (GRCm39) |
L473P |
probably damaging |
Het |
| Syce1 |
G |
A |
7: 140,361,987 (GRCm39) |
T32I |
possibly damaging |
Het |
| Tars2 |
G |
A |
3: 95,658,199 (GRCm39) |
Q209* |
probably null |
Het |
| Tmem9b |
A |
G |
7: 109,344,527 (GRCm39) |
V100A |
probably benign |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,128 (GRCm39) |
I131V |
probably benign |
Het |
| Vmn2r26 |
C |
T |
6: 124,001,877 (GRCm39) |
T54I |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,747 (GRCm39) |
E1016G |
probably damaging |
Het |
| Zfp773 |
T |
C |
7: 7,139,482 (GRCm39) |
T56A |
possibly damaging |
Het |
|
| Other mutations in Grik5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00788:Grik5
|
APN |
7 |
24,764,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00974:Grik5
|
APN |
7 |
24,713,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01941:Grik5
|
APN |
7 |
24,764,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02642:Grik5
|
APN |
7 |
24,758,408 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL03177:Grik5
|
APN |
7 |
24,714,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03402:Grik5
|
APN |
7 |
24,714,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Griffin
|
UTSW |
7 |
24,758,502 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
G1citation:Grik5
|
UTSW |
7 |
24,745,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
PIT4453001:Grik5
|
UTSW |
7 |
24,710,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0077:Grik5
|
UTSW |
7 |
24,722,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0412:Grik5
|
UTSW |
7 |
24,713,099 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0427:Grik5
|
UTSW |
7 |
24,757,923 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1191:Grik5
|
UTSW |
7 |
24,757,750 (GRCm39) |
nonsense |
probably null |
|
|
R1830:Grik5
|
UTSW |
7 |
24,745,726 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2072:Grik5
|
UTSW |
7 |
24,714,738 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2369:Grik5
|
UTSW |
7 |
24,757,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3410:Grik5
|
UTSW |
7 |
24,762,397 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3411:Grik5
|
UTSW |
7 |
24,762,397 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3615:Grik5
|
UTSW |
7 |
24,721,996 (GRCm39) |
missense |
probably benign |
0.37 |
|
R3616:Grik5
|
UTSW |
7 |
24,721,996 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4600:Grik5
|
UTSW |
7 |
24,767,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4658:Grik5
|
UTSW |
7 |
24,760,152 (GRCm39) |
splice site |
probably benign |
|
|
R4735:Grik5
|
UTSW |
7 |
24,757,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Grik5
|
UTSW |
7 |
24,714,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5113:Grik5
|
UTSW |
7 |
24,714,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5120:Grik5
|
UTSW |
7 |
24,710,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5132:Grik5
|
UTSW |
7 |
24,764,629 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5173:Grik5
|
UTSW |
7 |
24,762,319 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5186:Grik5
|
UTSW |
7 |
24,715,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5239:Grik5
|
UTSW |
7 |
24,764,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5935:Grik5
|
UTSW |
7 |
24,758,502 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6335:Grik5
|
UTSW |
7 |
24,713,019 (GRCm39) |
missense |
probably benign |
|
|
R6609:Grik5
|
UTSW |
7 |
24,714,951 (GRCm39) |
nonsense |
probably null |
|
|
R6760:Grik5
|
UTSW |
7 |
24,758,364 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6820:Grik5
|
UTSW |
7 |
24,745,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6821:Grik5
|
UTSW |
7 |
24,745,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6822:Grik5
|
UTSW |
7 |
24,745,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6824:Grik5
|
UTSW |
7 |
24,745,780 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7173:Grik5
|
UTSW |
7 |
24,767,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7230:Grik5
|
UTSW |
7 |
24,722,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7555:Grik5
|
UTSW |
7 |
24,760,022 (GRCm39) |
missense |
probably benign |
|
|
R7560:Grik5
|
UTSW |
7 |
24,757,951 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7571:Grik5
|
UTSW |
7 |
24,713,310 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8228:Grik5
|
UTSW |
7 |
24,745,735 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8228:Grik5
|
UTSW |
7 |
24,709,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8879:Grik5
|
UTSW |
7 |
24,722,489 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8933:Grik5
|
UTSW |
7 |
24,722,743 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9129:Grik5
|
UTSW |
7 |
24,767,429 (GRCm39) |
splice site |
probably benign |
|
|
R9130:Grik5
|
UTSW |
7 |
24,767,429 (GRCm39) |
splice site |
probably benign |
|
|
R9154:Grik5
|
UTSW |
7 |
24,758,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9317:Grik5
|
UTSW |
7 |
24,745,660 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9355:Grik5
|
UTSW |
7 |
24,767,597 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9406:Grik5
|
UTSW |
7 |
24,757,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0017:Grik5
|
UTSW |
7 |
24,760,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Grik5
|
UTSW |
7 |
24,713,229 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Grik5
|
UTSW |
7 |
24,715,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGCTCAAGTCCACTAGGAGG -3'
(R):5'- TCAGCAACGGCAAGCTCTAC -3'
Sequencing Primer
(F):5'- TCGGACTTCACCAGGAATTG -3'
(R):5'- AACGGCAAGCTCTACTCGGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation