Incidental Mutation 'R9615:Grik4'
| ID |
724517 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R9615 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
42431708-42856296 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 42502765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 453
(K453*)
|
| 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: K453*
|
| SMART Domains |
Protein: ENSMUSP00000034515
Gene: ENSMUSG00000032017
AA Change: K453*
| 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: K453*
|
| SMART Domains |
Protein: ENSMUSP00000110515
Gene: ENSMUSG00000032017
AA Change: K453*
| 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: 99.7%
- 20x: 99.0%
|
| 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. 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
C |
5: 138,561,814 (GRCm39) |
Q124R |
probably damaging |
Het |
| Abca16 |
T |
A |
7: 120,126,404 (GRCm39) |
F1188I |
probably benign |
Het |
| Acat3 |
G |
A |
17: 13,147,502 (GRCm39) |
Q172* |
probably null |
Het |
| Aicda |
T |
A |
6: 122,538,113 (GRCm39) |
C90* |
probably null |
Het |
| Arhgap39 |
C |
A |
15: 76,621,438 (GRCm39) |
V388L |
probably benign |
Het |
| B020011L13Rik |
A |
T |
1: 117,729,462 (GRCm39) |
H323L |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,984,430 (GRCm39) |
R436Q |
|
Het |
| C3 |
A |
T |
17: 57,518,669 (GRCm39) |
L1238Q |
probably damaging |
Het |
| Cert1 |
C |
T |
13: 96,767,334 (GRCm39) |
H495Y |
possibly damaging |
Het |
| Ces1g |
A |
G |
8: 94,061,807 (GRCm39) |
V33A |
probably damaging |
Het |
| Clstn1 |
A |
G |
4: 149,722,757 (GRCm39) |
D475G |
probably damaging |
Het |
| Cmtm2a |
A |
G |
8: 105,019,286 (GRCm39) |
V101A |
probably damaging |
Het |
| Cnnm4 |
A |
G |
1: 36,511,893 (GRCm39) |
M374V |
probably damaging |
Het |
| Commd9 |
T |
C |
2: 101,727,436 (GRCm39) |
S77P |
possibly damaging |
Het |
| Cox7a2l |
A |
G |
17: 83,821,701 (GRCm39) |
Y2H |
possibly damaging |
Het |
| Cramp1 |
C |
A |
17: 25,201,783 (GRCm39) |
K566N |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,325,991 (GRCm39) |
H2725Y |
possibly damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,501,617 (GRCm39) |
F57L |
probably benign |
Het |
| Dgkh |
A |
T |
14: 78,813,370 (GRCm39) |
V1036D |
possibly damaging |
Het |
| Dip2c |
G |
A |
13: 9,625,191 (GRCm39) |
V562I |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,289,343 (GRCm39) |
Q60R |
probably benign |
Het |
| Gm1527 |
A |
G |
3: 28,969,475 (GRCm39) |
D275G |
probably damaging |
Het |
| Gp5 |
A |
C |
16: 30,128,393 (GRCm39) |
F94V |
probably damaging |
Het |
| Hdlbp |
T |
C |
1: 93,358,014 (GRCm39) |
T296A |
probably benign |
Het |
| Hrh4 |
C |
A |
18: 13,154,944 (GRCm39) |
T161K |
probably benign |
Het |
| Ift74 |
A |
T |
4: 94,550,822 (GRCm39) |
|
probably null |
Het |
| Kctd5 |
A |
T |
17: 24,292,192 (GRCm39) |
Y71N |
probably benign |
Het |
| Klhl42 |
T |
C |
6: 147,009,373 (GRCm39) |
L404P |
probably damaging |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lipe |
T |
A |
7: 25,097,326 (GRCm39) |
K206* |
probably null |
Het |
| Lipo3 |
T |
C |
19: 33,754,047 (GRCm39) |
I363V |
probably benign |
Het |
| Mrgpra6 |
T |
A |
7: 46,835,675 (GRCm39) |
I249F |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,374,320 (GRCm39) |
N125I |
|
Het |
| Nbr1 |
T |
A |
11: 101,465,978 (GRCm39) |
I753N |
probably benign |
Het |
| Ndor1 |
T |
C |
2: 25,138,434 (GRCm39) |
D451G |
probably benign |
Het |
| Nlrp5 |
C |
T |
7: 23,107,561 (GRCm39) |
T78I |
probably benign |
Het |
| Or10j3b |
A |
T |
1: 173,044,034 (GRCm39) |
E272V |
possibly damaging |
Het |
| Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,164,399 (GRCm39) |
F728S |
probably damaging |
Het |
| Ptgs2 |
T |
A |
1: 149,980,802 (GRCm39) |
F456Y |
probably damaging |
Het |
| Rtl1 |
G |
A |
12: 109,556,835 (GRCm39) |
A1668V |
possibly damaging |
Het |
| Runx2 |
A |
T |
17: 44,969,560 (GRCm39) |
D310E |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,106,714 (GRCm39) |
I349K |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,487,504 (GRCm39) |
M610T |
possibly damaging |
Het |
| Sec61b |
A |
G |
4: 47,483,056 (GRCm39) |
I105V |
probably benign |
Het |
| Semp2l2b |
T |
C |
10: 21,943,611 (GRCm39) |
E123G |
probably benign |
Het |
| Slc35f4 |
A |
G |
14: 49,556,306 (GRCm39) |
V149A |
probably benign |
Het |
| Smndc1 |
T |
A |
19: 53,368,951 (GRCm39) |
M221L |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,316,203 (GRCm39) |
N275D |
possibly damaging |
Het |
| Tas2r124 |
C |
T |
6: 132,732,492 (GRCm39) |
T267I |
probably benign |
Het |
| Thra |
G |
A |
11: 98,651,715 (GRCm39) |
R79H |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,347,032 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
A |
C |
17: 31,217,152 (GRCm39) |
Q1128P |
possibly damaging |
Het |
| Vps35 |
G |
A |
8: 86,010,633 (GRCm39) |
R237C |
probably benign |
Het |
| Zfp78 |
T |
A |
7: 6,382,074 (GRCm39) |
C343S |
probably damaging |
Het |
| Zfp85 |
A |
G |
13: 67,897,326 (GRCm39) |
Y249H |
probably damaging |
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 |
|
R7984:Grik4
|
UTSW |
9 |
42,582,557 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
X0028:Grik4
|
UTSW |
9 |
42,586,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCAAGTATGTGAGGCAG -3'
(R):5'- GCTGCCTGTTACTCAAGCTC -3'
Sequencing Primer
(F):5'- GCAGAGAGCAGATACCACGC -3'
(R):5'- GCCTGTTACTCAAGCTCCATCC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation