Mutagenetix > Incidental Mutation

Incidental Mutation 'R9443:Grik4'

713750

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) question?

Stock #

R9443 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42431708-42856296 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42571037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 223 (M223L)

Ref Sequence

ENSEMBL: ENSMUSP00000110515 (fasta)

Gene Model

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

AlphaFold

Q8BMF5

Predicted Effect

probably benign
Transcript: ENSMUST00000034515
AA Change: M223L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000034515
Gene: ENSMUSG00000032017
AA Change: M223L

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 benign
Transcript: ENSMUST00000114865
AA Change: M223L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000110515
Gene: ENSMUSG00000032017
AA Change: M223L

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: 99.5%
20x: 98.4%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	T	C	3: 37,146,140 (GRCm39)	Y503H	probably benign	Het
Adck1	T	C	12: 88,338,550 (GRCm39)		probably null	Het
Afap1l1	T	C	18: 61,879,859 (GRCm39)	D337G	probably damaging	Het
Afg1l	G	A	10: 42,189,587 (GRCm39)	T448M	probably damaging	Het
Aqp6	T	C	15: 99,499,409 (GRCm39)	S41P		Het
Atad5	T	G	11: 80,023,388 (GRCm39)	V1500G	probably benign	Het
B3galt9	C	T	2: 34,728,623 (GRCm39)	Q141*	probably null	Het
Btbd18	T	A	2: 84,497,524 (GRCm39)	D387E	probably benign	Het
Catsperd	A	G	17: 56,969,720 (GRCm39)	N605D	possibly damaging	Het
Ccdc24	C	T	4: 117,728,355 (GRCm39)	V102I	probably benign	Het
Cenpe	T	A	3: 134,976,609 (GRCm39)	D2405E	probably damaging	Het
Cfap46	T	C	7: 139,195,023 (GRCm39)	D2249G		Het
Chrm1	A	T	19: 8,655,550 (GRCm39)	Y85F	possibly damaging	Het
Clstn3	C	T	6: 124,428,358 (GRCm39)	G465S	probably damaging	Het
Col7a1	G	A	9: 108,785,059 (GRCm39)	G262D	unknown	Het
Copg2	T	C	6: 30,750,578 (GRCm39)	T736A	probably benign	Het
Coro2b	T	C	9: 62,333,080 (GRCm39)	E435G	probably benign	Het
Cp	A	T	3: 20,033,083 (GRCm39)	I637F	possibly damaging	Het
Cpne7	T	C	8: 123,853,411 (GRCm39)	F239L	probably damaging	Het
Cstdc2	C	T	2: 148,689,878 (GRCm39)	E92K	probably damaging	Het
Cul2	T	A	18: 3,434,041 (GRCm39)	Y679*	probably null	Het
Dhx8	T	C	11: 101,655,740 (GRCm39)	Y1158H	probably damaging	Het
Eda	G	T	X: 99,019,775 (GRCm39)	R130L	unknown	Het
Elp6	T	A	9: 110,150,004 (GRCm39)	V265D	probably damaging	Het
Eomes	A	G	9: 118,313,640 (GRCm39)	T562A		Het
Fam187b	A	T	7: 30,677,067 (GRCm39)	E192V	probably damaging	Het
Foxi1	T	C	11: 34,155,671 (GRCm39)	T320A	probably benign	Het
Gga1	C	T	15: 78,765,247 (GRCm39)	T18I	possibly damaging	Het
Hdac7	T	C	15: 97,700,352 (GRCm39)	N594S	probably benign	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Itpr3	T	G	17: 27,324,523 (GRCm39)	F1235C	probably damaging	Het
Klhdc4	A	G	8: 122,523,765 (GRCm39)	S484P	possibly damaging	Het
Kmt2c	A	G	5: 25,515,045 (GRCm39)	S2933P	probably damaging	Het
Lama5	T	A	2: 179,843,522 (GRCm39)	H475L	probably benign	Het
Ly6g6f	A	G	17: 35,299,826 (GRCm39)	L292P	possibly damaging	Het
Macf1	T	A	4: 123,365,668 (GRCm39)	Q3031L	probably benign	Het
Mbd5	T	G	2: 49,146,712 (GRCm39)	S307R	probably damaging	Het
Mertk	T	C	2: 128,604,029 (GRCm39)	F388L	probably benign	Het
Mmp11	A	G	10: 75,762,733 (GRCm39)	F240S	probably damaging	Het
Mroh1	T	A	15: 76,318,964 (GRCm39)	F949I	probably damaging	Het
Mroh2b	T	C	15: 4,973,821 (GRCm39)	L1113P	probably damaging	Het
Ndufv1	C	A	19: 4,057,614 (GRCm39)	A454S	probably benign	Het
Or13e8	A	G	4: 43,696,591 (GRCm39)	L194P	probably damaging	Het
Or56b2j	T	C	7: 104,352,821 (GRCm39)	S16P	probably benign	Het
Or5d46	T	A	2: 88,170,364 (GRCm39)	W152R	probably damaging	Het
Osbpl1a	C	A	18: 13,031,244 (GRCm39)	D329Y	probably benign	Het
Pcdh1	C	A	18: 38,330,633 (GRCm39)	R929L	probably damaging	Het
Phactr2	C	T	10: 13,122,841 (GRCm39)	R427K	probably benign	Het
Pip5k1c	T	C	10: 81,153,184 (GRCm39)	Y670H	probably damaging	Het
Plbd1	T	A	6: 136,611,555 (GRCm39)	N241Y	probably damaging	Het
Pmvk	C	A	3: 89,374,956 (GRCm39)	Q139K	probably benign	Het
Pramel30	T	A	4: 144,059,678 (GRCm39)	I463N	possibly damaging	Het
Rab3gap2	T	A	1: 184,967,523 (GRCm39)	C136S	probably damaging	Het
Rcor3	A	G	1: 191,786,050 (GRCm39)	V396A	probably damaging	Het
Rgs20	C	A	1: 4,982,629 (GRCm39)	E147*	probably null	Het
Rnf167	G	T	11: 70,540,777 (GRCm39)	L170F	probably damaging	Het
Scn9a	T	C	2: 66,395,553 (GRCm39)	T164A	probably damaging	Het
Skic3	A	G	13: 76,266,288 (GRCm39)	Q210R	probably benign	Het
Slc52a3	A	T	2: 151,846,299 (GRCm39)	I87F	probably benign	Het
Sntn	A	T	14: 13,682,364 (GRCm38)	M146L		Het
Svep1	C	T	4: 58,179,697 (GRCm39)	R182H	possibly damaging	Het
Taar7f	A	G	10: 23,926,311 (GRCm39)	I302V	probably benign	Het
Tm4sf20	T	C	1: 82,746,090 (GRCm39)	I17V	probably benign	Het
Traf1	T	C	2: 34,836,748 (GRCm39)	T270A	probably benign	Het
Trpm5	C	T	7: 142,638,860 (GRCm39)	E304K	probably benign	Het
Ttll8	T	C	15: 88,809,863 (GRCm39)	D311G	possibly damaging	Het
Unc79	T	A	12: 103,037,035 (GRCm39)	F608I	probably damaging	Het
Vmn2r11	A	T	5: 109,195,159 (GRCm39)	C722*	probably null	Het
Wdr7	A	G	18: 63,853,407 (GRCm39)	T36A	probably damaging	Het
Ybx2	C	T	11: 69,831,188 (GRCm39)	P261L		Het
Zfp101	C	T	17: 33,601,418 (GRCm39)	V113I	probably benign	Het
Zfp260	T	C	7: 29,804,249 (GRCm39)	S50P	probably benign	Het
Zfp319	A	T	8: 96,054,922 (GRCm39)	F427Y	probably benign	Het
Zfp369	T	C	13: 65,444,347 (GRCm39)	S497P	possibly 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
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'- TGCTAAGTGTTTCCGAGTGAC -3'
(R):5'- ACCACTTTGCAGACCCTCAG -3'

Sequencing Primer
(F):5'- AAGTGTTTCCGAGTGACAACCTC -3'
(R):5'- CCCTCAGGGGCTTCCTC -3'

Posted On

2022-06-15