Mutagenetix > Incidental Mutation

Incidental Mutation 'R8021:Grik1'

617397

Institutional Source

Beutler Lab

Gene Symbol

Grik1

Ensembl Gene

ENSMUSG00000022935

Gene Name

glutamate receptor, ionotropic, kainate 1

Synonyms

Glurbeta1, Glur5, D16Ium24e, Glur-5, D16Ium24, GluK5, A830007B11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87895900-88290265 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87914222 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 832 (V832I)

Ref Sequence

ENSEMBL: ENSMUSP00000023652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023652] [ENSMUST00000072256] [ENSMUST00000114137] [ENSMUST00000211444] [ENSMUST00000227986] [ENSMUST00000228034] [ENSMUST00000228188]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935
AA Change: V832I

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	14	357	4.7e-69	PFAM
Pfam:Peripla_BP_6	48	347	5.1e-11	PFAM
PBPe	394	762	2.4e-130	SMART
Lig_chan-Glu_bd	404	468	6.34e-31	SMART
Blast:PBPe	770	815	2e-16	BLAST
low complexity region	829	850	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935
AA Change: V832I

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	14	357	2.6e-72	PFAM
Pfam:Peripla_BP_6	49	347	3.4e-10	PFAM
PBPe	394	762	2.4e-130	SMART
Lig_chan-Glu_bd	404	468	6.34e-31	SMART
Blast:PBPe	770	817	1e-17	BLAST
low complexity region	858	879	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114137
AA Change: V761I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000109773
Gene: ENSMUSG00000022935
AA Change: V761I

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	1	325	5.4e-63	PFAM
Pfam:Peripla_BP_6	18	315	5.1e-11	PFAM
PBPe	362	730	2.4e-130	SMART
Lig_chan-Glu_bd	372	436	6.34e-31	SMART
Blast:PBPe	738	783	2e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000211444
AA Change: V832I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Predicted Effect

probably benign
Transcript: ENSMUST00000227986
AA Change: V847I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000228034
AA Change: V847I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000228188
AA Change: V847I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.1339

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic processes. This gene product belongs to the kainate family of glutamate receptors, which are composed of four subunits and function as ligand-activated ion channels. The subunit encoded by this gene is subject to RNA editing (CAG->CGG; Q->R) within the second transmembrane domain, which is thought to alter the properties of ion flow. Alternative splicing, resulting in transcript variants encoding different isoforms, has been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display subtile abnormalities in the electrophysiology of neurons in the brain. Response to chemical pain stimuli is also reduced. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	A	G	11: 107,025,927	I12V	unknown	Het
9130011E15Rik	C	T	19: 45,956,741		probably null	Het
A630010A05Rik	C	T	16: 14,589,246	T13I		Het
Acsm5	A	G	7: 119,542,393	E537G	possibly damaging	Het
Adam25	C	A	8: 40,754,759	A354E	probably damaging	Het
Adamts3	T	C	5: 89,683,184	K1004E	possibly damaging	Het
Ap3d1	C	A	10: 80,714,301	V699L	probably benign	Het
Arel1	T	G	12: 84,934,958	H216P	possibly damaging	Het
Armc12	T	A	17: 28,530,905	F8I	probably benign	Het
Ascc3	T	A	10: 50,731,648	M1416K	probably benign	Het
Catsperb	A	C	12: 101,588,063	N672T	probably benign	Het
Ccdc30	T	C	4: 119,352,679	H291R	probably benign	Het
Cd33	A	G	7: 43,528,838	V371A	unknown	Het
Cpt1b	A	T	15: 89,421,426	M362K	probably benign	Het
Dusp5	T	A	19: 53,529,498	S61T	probably benign	Het
Eogt	T	G	6: 97,134,330	D190A	probably damaging	Het
Fat3	T	A	9: 15,999,109	I1866F	probably damaging	Het
Fer1l4	T	A	2: 156,022,591	I1668F	probably damaging	Het
Foxn3	A	T	12: 99,388,902	M1K	probably null	Het
Frs3	T	A	17: 47,703,114	V244E	probably damaging	Het
Gm8765	A	G	13: 50,701,094	N256S	possibly damaging	Het
Gtf2ird2	T	A	5: 134,203,334	V242E	probably benign	Het
Gtpbp2	C	T	17: 46,164,269	R97C	possibly damaging	Het
Habp2	T	A	19: 56,314,053	V263E	probably benign	Het
Iars2	T	A	1: 185,322,457	I337L	probably benign	Het
Ifi204	T	C	1: 173,759,353		probably benign	Het
Itih2	T	C	2: 10,105,652	T543A	probably benign	Het
Kdm2b	A	G	5: 122,932,919	S372P	probably damaging	Het
Kit	T	A	5: 75,615,491	V311E	possibly damaging	Het
Kmt2c	C	G	5: 25,287,119	V4230L	possibly damaging	Het
Lao1	T	C	4: 118,968,477	I498T	probably damaging	Het
Lrp1	G	T	10: 127,548,346	D3641E	possibly damaging	Het
Mapk8ip1	A	T	2: 92,386,415	S477T	possibly damaging	Het
Mast3	C	T	8: 70,788,252	G218S	probably benign	Het
Mical1	T	C	10: 41,482,724	V546A	probably damaging	Het
Nck2	T	C	1: 43,554,260	V209A	probably benign	Het
Ndufs4	A	G	13: 114,307,815		probably null	Het
Nek3	C	T	8: 22,157,190	V139M	probably damaging	Het
Olfr1417	T	C	19: 11,828,892	I45V	probably benign	Het
Olfr863-ps1	A	C	9: 19,942,079	Y120*	probably null	Het
Olfr877	T	A	9: 37,855,296	H159Q	probably damaging	Het
Olfr994	A	T	2: 85,430,652	M59K	probably damaging	Het
Otog	A	T	7: 46,267,342	N901I	probably damaging	Het
Pclo	A	C	5: 14,539,784	Q699H	unknown	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Pde12	A	T	14: 26,665,699	Y551*	probably null	Het
Pigg	A	G	5: 108,319,939	D268G	probably damaging	Het
Ppp1r21	A	G	17: 88,549,507	D130G	probably benign	Het
Psip1	T	C	4: 83,459,955	T435A	possibly damaging	Het
Rad54l2	T	C	9: 106,719,641	S189G	probably benign	Het
Rgs14	T	C	13: 55,383,756	C498R	probably damaging	Het
Ripply3	C	A	16: 94,328,510	A5E	probably benign	Het
Rps6ka4	T	C	19: 6,830,409	D676G	probably benign	Het
Rsbn1	T	C	3: 103,928,582	L312S	possibly damaging	Het
Secisbp2	T	A	13: 51,665,628	*415R	probably null	Het
Sephs1	T	A	2: 4,906,623	F336Y	probably benign	Het
Setdb2	A	T	14: 59,423,384	Y103*	probably null	Het
Slit2	T	A	5: 48,302,492	C1371*	probably null	Het
Stab2	C	T	10: 86,905,539	A1239T	possibly damaging	Het
Taf4b	T	A	18: 14,804,524	V218E	probably damaging	Het
Tars2	T	C	3: 95,747,514	N393S	probably benign	Het
Tbc1d30	A	G	10: 121,267,543	M528T	probably benign	Het
Tchp	A	G	5: 114,718,417	E363G	probably damaging	Het
Tec	T	A	5: 72,757,469	N568I	probably benign	Het
Ticam1	A	G	17: 56,270,089	S669P	unknown	Het
Tnk1	A	G	11: 69,854,984	S372P	probably benign	Het
Tnpo2	G	A	8: 85,055,206	A847T	probably damaging	Het
Tsc1	A	T	2: 28,686,889	I1068F	possibly damaging	Het
Ttc14	T	A	3: 33,809,121	Y559*	probably null	Het
Ttc41	C	A	10: 86,733,714	T652N	probably benign	Het
Tut1	T	A	19: 8,955,509	S69T	probably benign	Het
Uck1	T	C	2: 32,259,917	S40G	probably benign	Het
Vmn2r76	G	A	7: 86,225,750	T673I	probably damaging	Het
Vps13d	G	T	4: 145,148,675	P1760H		Het
Zbp1	T	C	2: 173,209,210	N289S	possibly damaging	Het
Zc3hav1l	C	A	6: 38,297,947		probably benign	Het
Zzef1	A	T	11: 72,823,416	D244V	probably damaging	Het

Other mutations in Grik1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Grik1	APN	16	87957600	splice site	probably null
IGL01347:Grik1	APN	16	87957593	missense	probably benign	0.00
IGL01612:Grik1	APN	16	87946735	missense	probably damaging	1.00
IGL02010:Grik1	APN	16	88051508	missense	possibly damaging	0.96
IGL02059:Grik1	APN	16	88056049	missense	possibly damaging	0.95
IGL02068:Grik1	APN	16	87940651	missense	possibly damaging	0.80
IGL02200:Grik1	APN	16	87940565	missense	probably damaging	1.00
IGL02206:Grik1	APN	16	87935920	missense	probably damaging	1.00
IGL02375:Grik1	APN	16	87946556	missense	probably damaging	1.00
IGL02598:Grik1	APN	16	87947984	missense	probably damaging	1.00
IGL02686:Grik1	APN	16	88009761	splice site	probably null
IGL02890:Grik1	APN	16	87896802	intron	probably benign
R0096:Grik1	UTSW	16	88034226	missense	possibly damaging	0.55
R0096:Grik1	UTSW	16	88034226	missense	possibly damaging	0.55
R0387:Grik1	UTSW	16	88034350	splice site	probably benign
R0613:Grik1	UTSW	16	88051333	critical splice donor site	probably null
R1087:Grik1	UTSW	16	88006377	missense	probably benign	0.00
R1694:Grik1	UTSW	16	87950068	missense	probably damaging	0.96
R1905:Grik1	UTSW	16	87896866	nonsense	probably null
R1928:Grik1	UTSW	16	88051353	missense	probably damaging	0.99
R2157:Grik1	UTSW	16	88056124	missense	probably damaging	1.00
R3122:Grik1	UTSW	16	88006473	missense	probably damaging	1.00
R3906:Grik1	UTSW	16	88006449	missense	probably benign	0.00
R4194:Grik1	UTSW	16	87946728	missense	probably benign	0.45
R4343:Grik1	UTSW	16	87896252	missense	probably benign	0.00
R4349:Grik1	UTSW	16	87957543	missense	probably damaging	1.00
R4416:Grik1	UTSW	16	88051461	missense	probably benign	0.00
R4423:Grik1	UTSW	16	87923200	missense	probably benign	0.10
R4660:Grik1	UTSW	16	87923131	missense	probably damaging	1.00
R4804:Grik1	UTSW	16	87957569	missense	probably damaging	0.99
R5052:Grik1	UTSW	16	87950098	missense	probably benign	0.01
R5126:Grik1	UTSW	16	87947859	missense	probably damaging	1.00
R5334:Grik1	UTSW	16	87923194	frame shift	probably null
R5335:Grik1	UTSW	16	87923194	frame shift	probably null
R5337:Grik1	UTSW	16	87923194	frame shift	probably null
R5479:Grik1	UTSW	16	87936026	missense	probably damaging	1.00
R6141:Grik1	UTSW	16	87896872	missense	probably benign	0.00
R6188:Grik1	UTSW	16	88056071	missense	probably benign	0.06
R6335:Grik1	UTSW	16	87947906	missense	probably damaging	1.00
R6610:Grik1	UTSW	16	88034312	missense	probably damaging	1.00
R6737:Grik1	UTSW	16	88051391	missense	probably damaging	1.00
R7275:Grik1	UTSW	16	87912820	missense	probably benign	0.06
R7876:Grik1	UTSW	16	87923233	missense
R8027:Grik1	UTSW	16	87936005	missense
R8096:Grik1	UTSW	16	88006467	missense
R8266:Grik1	UTSW	16	87947979	missense	probably benign
R8515:Grik1	UTSW	16	87923282	nonsense	probably null
R8922:Grik1	UTSW	16	87896279	missense	unknown
R9097:Grik1	UTSW	16	87935908	missense
R9125:Grik1	UTSW	16	88056068	missense
R9273:Grik1	UTSW	16	88051491	missense
R9286:Grik1	UTSW	16	88051427	missense
R9491:Grik1	UTSW	16	87950107	missense
RF016:Grik1	UTSW	16	88034186	missense
RF022:Grik1	UTSW	16	87896337	missense
X0018:Grik1	UTSW	16	87946596	missense	probably damaging	1.00
Z1177:Grik1	UTSW	16	87946684	missense

Predicted Primers

PCR Primer
(F):5'- CTGGCAGGGATTCAATGCTC -3'
(R):5'- TCTGGTGATCAACATCCAAATCAC -3'

Sequencing Primer
(F):5'- ACTCAGAAATGACTCTTCTGGGC -3'
(R):5'- ATCACCCCAACTTTCAGGCTC -3'

Posted On

2020-01-23