Incidental Mutation 'R9317:Grik5'
| ID |
705913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grik5
|
| Ensembl Gene |
ENSMUSG00000003378 |
| Gene Name |
glutamate receptor, ionotropic, kainate 5 (gamma 2) |
| Synonyms |
KA2, GluRgamma2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.179)
|
| Stock # |
R9317 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
24709274-24771771 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24745660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 471
(L471P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003468]
[ENSMUST00000205328]
[ENSMUST00000206134]
|
| AlphaFold |
Q61626 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003468
AA Change: L471P
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000003468
Gene: ENSMUSG00000003378
AA Change: L471P
| 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: ENSMUST00000205328
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206134
|
| Meta Mutation Damage Score |
0.1797 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (37/37) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adad2 |
T |
C |
8: 120,342,180 (GRCm39) |
L307P |
probably damaging |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| C1qbp |
T |
C |
11: 70,868,929 (GRCm39) |
N278D |
probably benign |
Het |
| Cd68 |
C |
T |
11: 69,555,860 (GRCm39) |
|
probably null |
Het |
| Cdc37l1 |
T |
G |
19: 28,972,518 (GRCm39) |
N70K |
probably damaging |
Het |
| Cyp3a57 |
T |
C |
5: 145,309,421 (GRCm39) |
V253A |
possibly damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,829,575 (GRCm39) |
F795S |
probably damaging |
Het |
| Gli3 |
T |
A |
13: 15,889,658 (GRCm39) |
S591T |
probably damaging |
Het |
| Gmeb1 |
A |
T |
4: 131,953,349 (GRCm39) |
S472R |
probably benign |
Het |
| Gpr158 |
T |
C |
2: 21,832,037 (GRCm39) |
S1046P |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,350,328 (GRCm39) |
R5075H |
possibly damaging |
Het |
| Hspa5 |
G |
T |
2: 34,666,070 (GRCm39) |
S638I |
probably benign |
Het |
| Ilf3 |
A |
G |
9: 21,307,422 (GRCm39) |
Y355C |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 33,834,045 (GRCm39) |
T2366A |
|
Het |
| Negr1 |
T |
A |
3: 156,904,081 (GRCm39) |
C315S |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or8b52 |
T |
A |
9: 38,576,655 (GRCm39) |
M162L |
probably benign |
Het |
| Prr5 |
C |
T |
15: 84,583,324 (GRCm39) |
Q110* |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,099,034 (GRCm39) |
S1513T |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,230,731 (GRCm39) |
E274G |
probably damaging |
Het |
| Qrfprl |
A |
C |
6: 65,424,368 (GRCm39) |
I174L |
probably benign |
Het |
| Rmdn3 |
G |
A |
2: 118,986,991 (GRCm39) |
A12V |
unknown |
Het |
| Rpf1 |
A |
G |
3: 146,218,016 (GRCm39) |
V166A |
probably benign |
Het |
| Senp5 |
A |
C |
16: 31,802,390 (GRCm39) |
F554C |
probably damaging |
Het |
| Smarca2 |
T |
C |
19: 26,737,279 (GRCm39) |
C65R |
possibly damaging |
Het |
| Sprr2j-ps |
T |
A |
3: 92,326,178 (GRCm39) |
C18S |
unknown |
Het |
| Sult2a6 |
A |
T |
7: 13,970,615 (GRCm39) |
Y160* |
probably null |
Het |
| Taar8a |
T |
C |
10: 23,952,753 (GRCm39) |
V119A |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,301,896 (GRCm39) |
K351R |
probably benign |
Het |
| Trpc1 |
A |
G |
9: 95,603,275 (GRCm39) |
L419P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,641,699 (GRCm39) |
K13466E |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,447,662 (GRCm39) |
F1846S |
possibly damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,404,022 (GRCm39) |
N56K |
probably benign |
Het |
| Wdr12 |
C |
A |
1: 60,128,455 (GRCm39) |
M98I |
probably benign |
Het |
| Zfp953 |
T |
C |
13: 67,491,457 (GRCm39) |
Y165C |
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 |
|
R8681:Grik5
|
UTSW |
7 |
24,709,897 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
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'- AGCGTCCTGGGAAAACACAG -3'
(R):5'- AAGGATCCCTGACTCAGACC -3'
Sequencing Primer
(F):5'- GCGGCGACACAACACTG -3'
(R):5'- TGACTCAGACCCCTAAGCTCTG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation