Incidental Mutation 'R7984:Grik4'
ID |
651379 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Grik4
|
Ensembl Gene |
ENSMUSG00000032017 |
Gene Name |
glutamate receptor, ionotropic, kainate 4 |
Synonyms |
KA1, 6330551K01Rik, GluRgamma1, KA-1 |
MMRRC Submission |
046025-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.077)
|
Stock # |
R7984 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
42431708-42856296 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 42582557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 130
(Q130*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110515
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034515]
[ENSMUST00000114865]
|
AlphaFold |
Q8BMF5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034515
AA Change: Q130*
|
SMART Domains |
Protein: ENSMUSP00000034515 Gene: ENSMUSG00000032017 AA Change: Q130*
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
41 |
382 |
2.7e-60 |
PFAM |
PBPe
|
417 |
786 |
1.88e-132 |
SMART |
Lig_chan-Glu_bd
|
427 |
491 |
5.91e-31 |
SMART |
transmembrane domain
|
805 |
827 |
N/A |
INTRINSIC |
low complexity region
|
900 |
913 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114865
AA Change: Q130*
|
SMART Domains |
Protein: ENSMUSP00000110515 Gene: ENSMUSG00000032017 AA Change: Q130*
Domain | Start | End | E-Value | Type |
Pfam:ANF_receptor
|
41 |
382 |
5.1e-66 |
PFAM |
PBPe
|
417 |
786 |
1.88e-132 |
SMART |
Lig_chan-Glu_bd
|
427 |
491 |
5.91e-31 |
SMART |
transmembrane domain
|
805 |
827 |
N/A |
INTRINSIC |
low complexity region
|
900 |
913 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (58/58) |
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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced GYKI-resistant excitatory postsynaptic current. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1e1 |
G |
T |
13: 4,645,679 (GRCm39) |
H226N |
probably damaging |
Het |
Aldh1a7 |
T |
C |
19: 20,686,764 (GRCm39) |
D283G |
probably damaging |
Het |
Angel1 |
T |
C |
12: 86,767,068 (GRCm39) |
D436G |
probably benign |
Het |
Ank1 |
G |
A |
8: 23,578,982 (GRCm39) |
R314Q |
probably damaging |
Het |
Apbb2 |
T |
C |
5: 66,465,035 (GRCm39) |
E629G |
probably damaging |
Het |
Card9 |
T |
G |
2: 26,246,784 (GRCm39) |
I355L |
probably benign |
Het |
Cdon |
C |
T |
9: 35,414,598 (GRCm39) |
P1158S |
probably benign |
Het |
Cpne7 |
T |
G |
8: 123,846,461 (GRCm39) |
V91G |
possibly damaging |
Het |
Dlc1 |
T |
A |
8: 37,405,472 (GRCm39) |
T106S |
possibly damaging |
Het |
Dnah1 |
A |
T |
14: 30,989,772 (GRCm39) |
F3248Y |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,543,377 (GRCm39) |
D2264E |
probably benign |
Het |
Dock7 |
A |
T |
4: 98,877,303 (GRCm39) |
N1078K |
unknown |
Het |
Emc1 |
T |
A |
4: 139,102,760 (GRCm39) |
L973H |
probably damaging |
Het |
Fer1l5 |
T |
A |
1: 36,447,702 (GRCm39) |
L955Q |
possibly damaging |
Het |
Fpr-rs7 |
T |
C |
17: 20,333,671 (GRCm39) |
N273S |
probably benign |
Het |
Gle1 |
T |
A |
2: 29,828,588 (GRCm39) |
Y137N |
probably damaging |
Het |
Hcn1 |
C |
T |
13: 118,112,609 (GRCm39) |
Q858* |
probably null |
Het |
Heg1 |
A |
C |
16: 33,583,945 (GRCm39) |
S76R |
possibly damaging |
Het |
Ikbke |
T |
A |
1: 131,203,523 (GRCm39) |
E50V |
probably null |
Het |
Itga5 |
G |
A |
15: 103,264,379 (GRCm39) |
P297S |
probably damaging |
Het |
Kcng1 |
C |
A |
2: 168,104,406 (GRCm39) |
R480L |
possibly damaging |
Het |
Kdm3b |
G |
T |
18: 34,956,752 (GRCm39) |
E1236* |
probably null |
Het |
Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
Lrp5 |
A |
G |
19: 3,662,342 (GRCm39) |
F894L |
probably damaging |
Het |
Lrrk1 |
T |
C |
7: 65,950,477 (GRCm39) |
|
probably null |
Het |
Man2a2 |
T |
G |
7: 80,003,056 (GRCm39) |
T1018P |
probably damaging |
Het |
Mctp2 |
T |
C |
7: 71,752,937 (GRCm39) |
Q772R |
possibly damaging |
Het |
Meioc |
T |
A |
11: 102,565,432 (GRCm39) |
N293K |
possibly damaging |
Het |
Mrps24 |
A |
T |
11: 5,657,495 (GRCm39) |
C34S |
possibly damaging |
Het |
Nek1 |
G |
T |
8: 61,574,087 (GRCm39) |
E1112* |
probably null |
Het |
Nt5dc2 |
A |
G |
14: 30,860,775 (GRCm39) |
S317G |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,997,151 (GRCm39) |
Q1492K |
possibly damaging |
Het |
Or2a57 |
T |
G |
6: 43,212,730 (GRCm39) |
S63A |
probably damaging |
Het |
Or52e4 |
T |
C |
7: 104,705,639 (GRCm39) |
F62S |
probably damaging |
Het |
Or6c69 |
A |
G |
10: 129,747,941 (GRCm39) |
F69L |
probably benign |
Het |
Or8b36 |
A |
G |
9: 37,937,155 (GRCm39) |
T18A |
probably damaging |
Het |
Or9m1b |
T |
A |
2: 87,836,969 (GRCm39) |
N42I |
probably damaging |
Het |
Or9s23 |
A |
G |
1: 92,501,144 (GRCm39) |
I84V |
probably benign |
Het |
P2ry12 |
T |
A |
3: 59,125,022 (GRCm39) |
I218F |
probably damaging |
Het |
Paip1 |
C |
T |
13: 119,566,698 (GRCm39) |
Q11* |
probably null |
Het |
Pcdhga3 |
C |
A |
18: 37,809,549 (GRCm39) |
D667E |
probably benign |
Het |
Pcnx2 |
T |
G |
8: 126,485,865 (GRCm39) |
E1911A |
probably benign |
Het |
Pibf1 |
T |
C |
14: 99,459,063 (GRCm39) |
L678P |
probably damaging |
Het |
Pira2 |
A |
T |
7: 3,844,696 (GRCm39) |
F445Y |
probably benign |
Het |
Prickle2 |
T |
C |
6: 92,387,855 (GRCm39) |
T516A |
probably benign |
Het |
Prl2c1 |
G |
A |
13: 28,039,310 (GRCm39) |
|
probably null |
Het |
Rnf112 |
A |
G |
11: 61,340,306 (GRCm39) |
V656A |
possibly damaging |
Het |
Siglecf |
A |
C |
7: 43,004,655 (GRCm39) |
|
probably null |
Het |
Slc24a1 |
A |
T |
9: 64,856,811 (GRCm39) |
L32* |
probably null |
Het |
Slc7a1 |
A |
G |
5: 148,278,920 (GRCm39) |
V284A |
possibly damaging |
Het |
Slco5a1 |
T |
A |
1: 12,951,608 (GRCm39) |
H565L |
probably damaging |
Het |
Slit2 |
A |
G |
5: 48,333,465 (GRCm39) |
|
probably benign |
Het |
Sulf1 |
A |
G |
1: 12,929,497 (GRCm39) |
T255A |
probably benign |
Het |
Tmem130 |
C |
T |
5: 144,692,237 (GRCm39) |
G56R |
possibly damaging |
Het |
Trmt1l |
A |
C |
1: 151,311,489 (GRCm39) |
Q116H |
probably benign |
Het |
Ttn |
A |
T |
2: 76,554,094 (GRCm39) |
W30870R |
probably damaging |
Het |
Unc13b |
A |
T |
4: 43,173,973 (GRCm39) |
L1600F |
unknown |
Het |
Vmn1r233 |
C |
T |
17: 21,214,417 (GRCm39) |
V178M |
probably damaging |
Het |
Vmn2r18 |
G |
A |
5: 151,485,526 (GRCm39) |
P656L |
probably damaging |
Het |
Vmn2r33 |
A |
T |
7: 7,566,862 (GRCm39) |
D83E |
probably benign |
Het |
Vps13b |
G |
A |
15: 35,880,059 (GRCm39) |
V3045I |
probably benign |
Het |
Wdr25 |
A |
T |
12: 108,976,983 (GRCm39) |
|
probably null |
Het |
Xpo6 |
A |
G |
7: 125,719,616 (GRCm39) |
V591A |
probably benign |
Het |
|
Other mutations in Grik4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01432:Grik4
|
APN |
9 |
42,432,472 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01929:Grik4
|
APN |
9 |
42,477,594 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02049:Grik4
|
APN |
9 |
42,455,049 (GRCm39) |
splice site |
probably benign |
|
IGL02331:Grik4
|
APN |
9 |
42,453,284 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02652:Grik4
|
APN |
9 |
42,586,573 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02817:Grik4
|
APN |
9 |
42,534,235 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02945:Grik4
|
APN |
9 |
42,509,175 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03100:Grik4
|
APN |
9 |
42,461,751 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03168:Grik4
|
APN |
9 |
42,582,539 (GRCm39) |
missense |
probably damaging |
1.00 |
R0420:Grik4
|
UTSW |
9 |
42,533,392 (GRCm39) |
nonsense |
probably null |
|
R0894:Grik4
|
UTSW |
9 |
42,599,405 (GRCm39) |
splice site |
probably benign |
|
R1458:Grik4
|
UTSW |
9 |
42,432,418 (GRCm39) |
missense |
probably benign |
0.21 |
R1502:Grik4
|
UTSW |
9 |
42,502,743 (GRCm39) |
missense |
probably benign |
0.03 |
R1502:Grik4
|
UTSW |
9 |
42,432,169 (GRCm39) |
missense |
probably damaging |
0.97 |
R1808:Grik4
|
UTSW |
9 |
42,540,322 (GRCm39) |
missense |
probably benign |
0.19 |
R1945:Grik4
|
UTSW |
9 |
42,432,300 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2180:Grik4
|
UTSW |
9 |
42,453,301 (GRCm39) |
missense |
probably benign |
0.45 |
R2203:Grik4
|
UTSW |
9 |
42,458,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R2336:Grik4
|
UTSW |
9 |
42,477,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R2508:Grik4
|
UTSW |
9 |
42,533,438 (GRCm39) |
missense |
probably damaging |
1.00 |
R2890:Grik4
|
UTSW |
9 |
42,582,515 (GRCm39) |
missense |
probably damaging |
1.00 |
R3702:Grik4
|
UTSW |
9 |
42,586,514 (GRCm39) |
missense |
probably damaging |
0.97 |
R3834:Grik4
|
UTSW |
9 |
42,540,419 (GRCm39) |
missense |
probably benign |
0.04 |
R4082:Grik4
|
UTSW |
9 |
42,509,180 (GRCm39) |
missense |
probably benign |
0.00 |
R4604:Grik4
|
UTSW |
9 |
42,435,882 (GRCm39) |
missense |
probably damaging |
1.00 |
R4711:Grik4
|
UTSW |
9 |
42,540,389 (GRCm39) |
missense |
probably damaging |
1.00 |
R5417:Grik4
|
UTSW |
9 |
42,582,544 (GRCm39) |
missense |
probably benign |
0.45 |
R5540:Grik4
|
UTSW |
9 |
42,432,243 (GRCm39) |
missense |
probably damaging |
0.99 |
R5680:Grik4
|
UTSW |
9 |
42,540,415 (GRCm39) |
missense |
probably benign |
|
R5740:Grik4
|
UTSW |
9 |
42,719,863 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5876:Grik4
|
UTSW |
9 |
42,599,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R5911:Grik4
|
UTSW |
9 |
42,502,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R6319:Grik4
|
UTSW |
9 |
42,477,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R6475:Grik4
|
UTSW |
9 |
42,540,304 (GRCm39) |
missense |
probably benign |
0.01 |
R6544:Grik4
|
UTSW |
9 |
42,459,024 (GRCm39) |
nonsense |
probably null |
|
R7065:Grik4
|
UTSW |
9 |
42,455,127 (GRCm39) |
missense |
probably damaging |
1.00 |
R7278:Grik4
|
UTSW |
9 |
42,533,356 (GRCm39) |
missense |
probably benign |
0.25 |
R7605:Grik4
|
UTSW |
9 |
42,599,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R8786:Grik4
|
UTSW |
9 |
42,453,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R9104:Grik4
|
UTSW |
9 |
42,571,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R9443:Grik4
|
UTSW |
9 |
42,571,037 (GRCm39) |
missense |
probably benign |
0.02 |
R9615:Grik4
|
UTSW |
9 |
42,502,765 (GRCm39) |
nonsense |
probably null |
|
X0028:Grik4
|
UTSW |
9 |
42,586,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CATTCCTGGGTTGTTGCAAGC -3'
(R):5'- GAATGCTGCTTTCCCCTTGG -3'
Sequencing Primer
(F):5'- TGCCCATAGCCTAGTAGAAATG -3'
(R):5'- CCCCTTGGTGTGTGTCAAAG -3'
|
Posted On |
2020-09-15 |