Mutagenetix > Incidental Mutation

Incidental Mutation 'R1830:Grik5'

207226

Institutional Source

Beutler Lab

Gene Symbol

Grik5

Ensembl Gene

ENSMUSG00000003378

Gene Name

glutamate receptor, ionotropic, kainate 5 (gamma 2)

Synonyms

KA2, GluRgamma2

MMRRC Submission

039857-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R1830 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24709274-24771771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24745726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 449 (D449G)

Ref Sequence

ENSEMBL: ENSMUSP00000003468 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003468] [ENSMUST00000205328] [ENSMUST00000206134]

AlphaFold

Q61626

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003468
AA Change: D449G

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003468
Gene: ENSMUSG00000003378
AA Change: D449G

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

noncoding transcript
Transcript: ENSMUST00000206132

Predicted Effect

probably benign
Transcript: ENSMUST00000206134

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.4%

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. 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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,240,350 (GRCm39)	S738P	probably benign	Het
Abi3bp	C	A	16: 56,408,348 (GRCm39)	P261Q	probably damaging	Het
Adam19	A	G	11: 46,018,105 (GRCm39)	N389S	probably damaging	Het
Adgrv1	A	T	13: 81,637,196 (GRCm39)	V3415D	possibly damaging	Het
Ankrd33	A	T	15: 101,017,432 (GRCm39)	I282F	probably damaging	Het
Arhgap39	C	T	15: 76,619,383 (GRCm39)	V734M	probably damaging	Het
Arsg	T	C	11: 109,454,100 (GRCm39)		probably null	Het
Atp8b4	C	T	2: 126,245,301 (GRCm39)	G283R	probably benign	Het
B3galnt2	T	G	13: 14,166,119 (GRCm39)	L338*	probably null	Het
Cdc14a	A	T	3: 116,216,296 (GRCm39)	Y1*	probably null	Het
Ceacam16	T	C	7: 19,592,803 (GRCm39)	E35G	possibly damaging	Het
Cfap46	T	A	7: 139,220,323 (GRCm39)	D1244V	possibly damaging	Het
Chordc1	T	C	9: 18,223,274 (GRCm39)	Y245H	probably damaging	Het
Col6a6	C	A	9: 105,579,469 (GRCm39)	V1919F	probably damaging	Het
Colgalt1	T	C	8: 72,075,781 (GRCm39)	V476A	probably damaging	Het
Cped1	T	C	6: 22,237,727 (GRCm39)	C948R	probably damaging	Het
Cyfip2	T	C	11: 46,089,846 (GRCm39)	D1189G	probably damaging	Het
Cyp27b1	T	C	10: 126,884,952 (GRCm39)	Y72H	possibly damaging	Het
Dagla	A	G	19: 10,248,378 (GRCm39)	M94T	probably benign	Het
Dip2a	A	G	10: 76,153,797 (GRCm39)	S178P	probably damaging	Het
Dlec1	T	C	9: 118,967,858 (GRCm39)	V1220A	probably benign	Het
Dpysl2	T	C	14: 67,105,840 (GRCm39)		probably benign	Het
E2f6	T	C	12: 16,868,884 (GRCm39)	V69A	probably benign	Het
Fat3	T	C	9: 15,826,636 (GRCm39)	T4439A	probably benign	Het
Fn1	T	C	1: 71,663,418 (GRCm39)	I1023M	probably damaging	Het
Gabrr2	G	A	4: 33,077,481 (GRCm39)	V83M	probably damaging	Het
Gfral	T	C	9: 76,100,485 (GRCm39)	N318D	probably benign	Het
Gm5611	A	T	9: 16,942,073 (GRCm39)		noncoding transcript	Het
Gpat3	A	T	5: 101,041,046 (GRCm39)	M369L	probably benign	Het
Gucy2g	T	A	19: 55,211,362 (GRCm39)	T623S	possibly damaging	Het
H2-T22	T	C	17: 36,352,434 (GRCm39)	T164A	probably benign	Het
Herc1	T	A	9: 66,404,881 (GRCm39)	C4484S	possibly damaging	Het
Hira	T	C	16: 18,766,164 (GRCm39)	S659P	probably damaging	Het
Hoxa7	T	C	6: 52,194,307 (GRCm39)	T27A	possibly damaging	Het
Hoxd1	T	C	2: 74,593,866 (GRCm39)	S141P	probably damaging	Het
Kank1	C	A	19: 25,388,396 (GRCm39)	Q690K	probably benign	Het
Kera	A	G	10: 97,445,009 (GRCm39)	K123E	probably benign	Het
Kifbp	T	C	10: 62,395,106 (GRCm39)	Y512C	probably damaging	Het
Lepr	A	C	4: 101,592,874 (GRCm39)	Y163S	probably damaging	Het
Leprotl1	T	C	8: 34,607,922 (GRCm39)	I29V	probably benign	Het
Lrriq1	T	G	10: 102,997,620 (GRCm39)	T1332P	probably benign	Het
Mrps15	A	G	4: 125,949,200 (GRCm39)	K223E	probably damaging	Het
Mrps7	T	A	11: 115,497,811 (GRCm39)	N225K	probably benign	Het
Nav3	T	A	10: 109,659,184 (GRCm39)	D811V	probably damaging	Het
Ndst3	T	A	3: 123,342,587 (GRCm39)	R741S	probably damaging	Het
Nos3	T	C	5: 24,575,131 (GRCm39)	Y356H	probably damaging	Het
Nxpe3	A	G	16: 55,686,444 (GRCm39)	V188A	probably damaging	Het
Or13n4	T	C	7: 106,423,317 (GRCm39)	R139G	probably benign	Het
Or5p50	T	A	7: 107,422,578 (GRCm39)	I33F	probably benign	Het
Or8j3b	T	C	2: 86,205,487 (GRCm39)	K90E	possibly damaging	Het
Pdia4	A	T	6: 47,773,695 (GRCm39)	C551*	probably null	Het
Pex13	A	G	11: 23,605,513 (GRCm39)	F239S	probably damaging	Het
Pigq	A	G	17: 26,153,980 (GRCm39)	M273T	probably benign	Het
Plppr2	C	T	9: 21,859,047 (GRCm39)	P388L	probably damaging	Het
Polr3b	C	T	10: 84,528,786 (GRCm39)	Q737*	probably null	Het
Ppfibp1	T	C	6: 146,923,757 (GRCm39)		probably null	Het
Ppfibp2	C	A	7: 107,236,504 (GRCm39)	D17E	probably damaging	Het
Pramel34	A	T	5: 93,785,545 (GRCm39)	I245K	probably benign	Het
Prr35	T	C	17: 26,165,691 (GRCm39)	D532G	possibly damaging	Het
Ptpn13	A	G	5: 103,691,325 (GRCm39)	D1064G	probably benign	Het
Qtrt2	A	T	16: 43,692,018 (GRCm39)	S168T	probably damaging	Het
Rbp3	T	C	14: 33,676,601 (GRCm39)	V183A	probably benign	Het
Shprh	T	C	10: 11,062,655 (GRCm39)		probably null	Het
Slc39a10	T	C	1: 46,875,230 (GRCm39)	H24R	probably damaging	Het
Slc7a13	A	T	4: 19,819,046 (GRCm39)	H82L	probably benign	Het
Sptbn2	A	G	19: 4,782,569 (GRCm39)	I502V	probably benign	Het
Syne2	C	T	12: 76,156,636 (GRCm39)	R6811C	probably damaging	Het
Syt12	A	G	19: 4,506,911 (GRCm39)	V78A	probably benign	Het
Tbck	T	A	3: 132,543,772 (GRCm39)	D874E	probably benign	Het
Tesc	A	T	5: 118,184,394 (GRCm39)	I25L	probably damaging	Het
Thoc5	T	G	11: 4,864,608 (GRCm39)	D351E	probably benign	Het
Tor1aip1	A	T	1: 155,883,308 (GRCm39)	M180K	probably damaging	Het
Trps1	T	C	15: 50,524,532 (GRCm39)	S842G	probably damaging	Het
Unc79	A	T	12: 103,100,737 (GRCm39)	T1858S	probably damaging	Het
Vmn1r193	T	C	13: 22,403,561 (GRCm39)	T144A	probably benign	Het
Vwa8	T	C	14: 79,318,576 (GRCm39)	F1046S	probably benign	Het
Wdr26	A	T	1: 181,019,340 (GRCm39)	W346R	probably damaging	Het
Zfp740	T	A	15: 102,116,336 (GRCm39)	V22E	probably damaging	Het
Zw10	C	A	9: 48,981,041 (GRCm39)	S480R	probably 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
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
R9317:Grik5	UTSW	7	24,745,660 (GRCm39)	missense	probably damaging	0.99
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'- ACTTTGTGCTGTGATCTCGC -3'
(R):5'- TCCTGTACAGAATAAGCAAGCAAGC -3'

Sequencing Primer
(F):5'- GTGCTGTGATCTCGCCCTAC -3'
(R):5'- AGGGGGTCTGCCATCCATC -3'

Posted On

2014-06-23