Mutagenetix > Incidental Mutation

Incidental Mutation 'R5911:Grik4'

461005

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

044108-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42431708-42856296 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 42502720 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 468 (V468F)

Ref Sequence

ENSEMBL: ENSMUSP00000110515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034515] [ENSMUST00000114865]

AlphaFold

Q8BMF5

Predicted Effect

probably damaging
Transcript: ENSMUST00000034515
AA Change: V468F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034515
Gene: ENSMUSG00000032017
AA Change: V468F

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 damaging
Transcript: ENSMUST00000114865
AA Change: V468F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110515
Gene: ENSMUSG00000032017
AA Change: V468F

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

Meta Mutation Damage Score

0.6830

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

92% (77/84)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	C	T	3: 124,350,380 (GRCm39)		probably benign	Het
Acacb	A	T	5: 114,370,951 (GRCm39)	D1731V	probably damaging	Het
Afg3l1	G	A	8: 124,226,778 (GRCm39)	V563I	possibly damaging	Het
Ak7	A	G	12: 105,692,471 (GRCm39)	E175G	probably damaging	Het
Arhgap5	C	T	12: 52,565,525 (GRCm39)	T832I	possibly damaging	Het
Arid4a	A	T	12: 71,116,747 (GRCm39)	T602S	probably damaging	Het
Caps2	C	T	10: 112,001,591 (GRCm39)		probably benign	Het
Ccdc170	G	T	10: 4,508,551 (GRCm39)	E592*	probably null	Het
Clasp1	C	A	1: 118,434,638 (GRCm39)		probably benign	Het
Crhbp	T	A	13: 95,568,564 (GRCm39)	M291L	probably benign	Het
Cyp3a41b	T	A	5: 145,519,349 (GRCm39)	L47F	probably benign	Het
Dgcr6	A	G	16: 17,884,598 (GRCm39)	D82G	probably damaging	Het
Drc7	A	G	8: 95,800,754 (GRCm39)	E592G	probably damaging	Het
Dtl	G	A	1: 191,300,519 (GRCm39)	T115I	probably damaging	Het
Ece2	A	G	16: 20,457,510 (GRCm39)	Y338C	probably damaging	Het
Egr3	A	G	14: 70,316,897 (GRCm39)	D198G	probably damaging	Het
Ereg	A	C	5: 91,222,552 (GRCm39)		probably benign	Het
Esp31	G	C	17: 38,951,933 (GRCm39)		probably null	Het
Faap100	T	C	11: 120,267,958 (GRCm39)	I272V	possibly damaging	Het
Fam3c	T	C	6: 22,328,560 (GRCm39)	D109G	probably damaging	Het
Fam3c	T	A	6: 22,339,299 (GRCm39)	M51L	probably benign	Het
Fcnb	A	T	2: 27,966,701 (GRCm39)	N277K	probably damaging	Het
Fgfr1	A	G	8: 26,009,325 (GRCm39)		probably benign	Het
Gpr158	T	C	2: 21,373,932 (GRCm39)	F289S	possibly damaging	Het
Gtdc1	T	A	2: 44,642,076 (GRCm39)	R168S	probably benign	Het
Gucy2c	C	T	6: 136,699,440 (GRCm39)	G610R	probably damaging	Het
Gulp1	A	T	1: 44,793,534 (GRCm39)	Q65L	possibly damaging	Het
Hectd1	A	T	12: 51,849,035 (GRCm39)	D356E	probably damaging	Het
Hnrnpu	T	C	1: 178,157,737 (GRCm39)		probably benign	Het
Igkv13-57-2	T	C	6: 69,500,971 (GRCm39)		noncoding transcript	Het
Itih4	A	G	14: 30,612,612 (GRCm39)	I213V	possibly damaging	Het
Itpr2	T	C	6: 146,214,441 (GRCm39)	K1469E	probably benign	Het
Jkampl	T	C	6: 73,445,674 (GRCm39)	T292A	probably damaging	Het
Jrk	T	C	15: 74,577,617 (GRCm39)	D556G	possibly damaging	Het
Kctd16	A	T	18: 40,663,905 (GRCm39)	I345F	probably benign	Het
Klhdc1	A	G	12: 69,303,025 (GRCm39)	E187G	possibly damaging	Het
Lrch3	T	C	16: 32,779,833 (GRCm39)	Y111H	probably damaging	Het
Mlh3	A	T	12: 85,315,229 (GRCm39)	V319D	probably damaging	Het
Nsd3	T	C	8: 26,156,092 (GRCm39)	L553P	probably damaging	Het
Or1e23	T	A	11: 73,407,351 (GRCm39)	I225F	probably damaging	Het
Or51q1	A	T	7: 103,628,915 (GRCm39)	H172L	probably benign	Het
Or5d38	C	T	2: 87,955,027 (GRCm39)	V101I	probably benign	Het
Or5e1	T	A	7: 108,354,882 (GRCm39)	I273N	probably benign	Het
Or5p66	T	A	7: 107,885,605 (GRCm39)	T243S	probably damaging	Het
Or7g26	T	C	9: 19,230,445 (GRCm39)	I205T	probably benign	Het
Pelp1	C	T	11: 70,287,740 (GRCm39)	R394H	probably damaging	Het
Ppp1r13l	G	T	7: 19,109,817 (GRCm39)		probably null	Het
Prr5	C	A	15: 84,585,635 (GRCm39)	S201*	probably null	Het
Rad23b	T	A	4: 55,370,474 (GRCm39)		probably null	Het
Rasgef1a	T	A	6: 118,061,335 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,738,832 (GRCm39)	I565N	probably damaging	Het
Slc30a5	T	C	13: 100,945,600 (GRCm39)	N527S	probably damaging	Het
Slc39a5	T	A	10: 128,235,812 (GRCm39)	N49Y	probably damaging	Het
Spast	T	A	17: 74,694,058 (GRCm39)	S571T	probably benign	Het
Spdye4c	C	T	2: 128,437,994 (GRCm39)	R245*	probably null	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tgm7	T	A	2: 120,926,454 (GRCm39)	D480V	probably benign	Het
Thpo	T	A	16: 20,547,546 (GRCm39)	S22C	probably null	Het
Top2a	T	A	11: 98,907,291 (GRCm39)	T180S	possibly damaging	Het
Trim37	T	A	11: 87,087,663 (GRCm39)	Y34*	probably null	Het
Tsc2	T	C	17: 24,819,361 (GRCm39)	E1254G	possibly damaging	Het
Ttc39a	C	T	4: 109,280,168 (GRCm39)	P150L	possibly damaging	Het
Ttc4	T	C	4: 106,525,240 (GRCm39)	D298G	probably damaging	Het
Ttll1	A	G	15: 83,386,482 (GRCm39)	V41A	probably benign	Het
Vmn1r20	C	A	6: 57,408,774 (GRCm39)	H33Q	probably benign	Het
Zan	A	T	5: 137,456,174 (GRCm39)	Y1329N	unknown	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
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
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'- AGTTCACTAAAGATTTCTGGGATGG -3'
(R):5'- CATCCCACATGGCTGCAATG -3'

Sequencing Primer
(F):5'- CACTAAAGATTTCTGGGATGGATAGG -3'
(R):5'- CTGCAATGCCAGGGCTAAG -3'

Posted On

2017-02-28