Mutagenetix > Incidental Mutation

Incidental Mutation 'R1905:Grik1'

214331

Institutional Source

Beutler Lab

Gene Symbol

Grik1

Ensembl Gene

ENSMUSG00000022935

Gene Name

glutamate receptor, ionotropic, kainate 1

Synonyms

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

MMRRC Submission

039924-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1905 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87692788-88087153 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 87693754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 879 (Y879*)

Ref Sequence

ENSEMBL: ENSMUSP00000153786 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023652

SMART Domains

Protein: ENSMUSP00000023652
Gene: ENSMUSG00000022935

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

probably null
Transcript: ENSMUST00000072256
AA Change: Y864*

SMART Domains

Protein: ENSMUSP00000072107
Gene: ENSMUSG00000022935
AA Change: Y864*

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 null
Transcript: ENSMUST00000227986
AA Change: Y879*

Predicted Effect

probably benign
Transcript: ENSMUST00000228034

Predicted Effect

probably benign
Transcript: ENSMUST00000228188

Meta Mutation Damage Score

0.9717

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.1%

Validation Efficiency

99% (90/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	G	T	13: 119,606,216 (GRCm39)	V153L	possibly damaging	Het
Adamts17	T	A	7: 66,697,220 (GRCm39)	C631*	probably null	Het
Adamts19	A	G	18: 59,166,017 (GRCm39)	R1070G	possibly damaging	Het
Aldh1a1	A	G	19: 20,595,362 (GRCm39)	E97G	probably damaging	Het
Bola2	T	A	7: 126,295,410 (GRCm39)	V40E	probably damaging	Het
Ccar1	A	G	10: 62,612,437 (GRCm39)	S243P	possibly damaging	Het
Cd80	A	T	16: 38,294,539 (GRCm39)	I141F	probably damaging	Het
Ceacam23	T	A	7: 17,607,477 (GRCm39)		noncoding transcript	Het
Chn2	T	C	6: 54,263,106 (GRCm39)	C92R	probably damaging	Het
Ciao2a	A	G	9: 66,039,929 (GRCm39)	K82R	probably benign	Het
Clk1	A	T	1: 58,461,101 (GRCm39)		probably benign	Het
Clock	T	C	5: 76,414,735 (GRCm39)		probably benign	Het
Cntnap3	A	G	13: 65,051,578 (GRCm39)	V26A	probably benign	Het
Csf3r	A	T	4: 125,936,538 (GRCm39)	K651N	probably benign	Het
Cul4a	T	C	8: 13,183,171 (GRCm39)	M322T	probably benign	Het
Cx3cl1	A	G	8: 95,506,687 (GRCm39)	T231A	probably benign	Het
Cyp2c68	A	T	19: 39,724,026 (GRCm39)	C213S	probably benign	Het
Dhx16	T	G	17: 36,199,247 (GRCm39)	S814A	probably benign	Het
Dnah1	T	C	14: 30,986,587 (GRCm39)	I3659V	probably benign	Het
Dock6	A	T	9: 21,740,870 (GRCm39)	V906D	probably benign	Het
Ep400	G	A	5: 110,818,814 (GRCm39)	T2738I	probably damaging	Het
Erbb4	A	T	1: 68,114,569 (GRCm39)		probably benign	Het
Fam135b	C	T	15: 71,404,836 (GRCm39)	R70H	probably damaging	Het
Fam13a	T	C	6: 58,930,475 (GRCm39)	Q479R	probably damaging	Het
Fcgr4	A	T	1: 170,856,874 (GRCm39)	Q247L	probably damaging	Het
Flnc	T	A	6: 29,459,459 (GRCm39)	C2520S	probably damaging	Het
Foxn1	A	G	11: 78,262,636 (GRCm39)		probably null	Het
Fsip2	C	T	2: 82,813,772 (GRCm39)	P3364S	possibly damaging	Het
Fzd8	C	T	18: 9,213,803 (GRCm39)	T295I	probably damaging	Het
Gm4744	G	A	6: 40,928,736 (GRCm39)		probably benign	Het
Gm4871	G	T	5: 144,966,859 (GRCm39)	A208D	probably damaging	Het
Gm527	A	G	12: 64,967,797 (GRCm39)	N73S	possibly damaging	Het
Gm5414	T	C	15: 101,533,075 (GRCm39)	I451V	probably damaging	Het
Golm1	A	T	13: 59,790,065 (GRCm39)	V245E	probably benign	Het
Grn	C	A	11: 102,327,276 (GRCm39)	P241Q	probably damaging	Het
H2-T7	T	C	17: 36,453,833 (GRCm39)		noncoding transcript	Het
Hjurp	T	C	1: 88,194,338 (GRCm39)	E190G	probably benign	Het
Hmcn1	A	C	1: 150,868,606 (GRCm39)	I66S	probably damaging	Het
Hykk	T	A	9: 54,853,667 (GRCm39)	Y330N	probably benign	Het
Khdc1c	A	G	1: 21,439,281 (GRCm39)	N89S	probably benign	Het
Lcor	A	G	19: 41,572,013 (GRCm39)	D256G	possibly damaging	Het
Lrrc72	T	A	12: 36,258,661 (GRCm39)		probably null	Het
Lyst	T	G	13: 13,808,719 (GRCm39)	S130A	probably benign	Het
Mast1	G	A	8: 85,642,895 (GRCm39)	R967C	probably damaging	Het
Mfng	T	C	15: 78,657,286 (GRCm39)	T63A	probably damaging	Het
Mre11a	G	A	9: 14,710,923 (GRCm39)	D206N	probably benign	Het
Myh10	A	G	11: 68,662,694 (GRCm39)		probably benign	Het
Myt1	A	G	2: 181,439,549 (GRCm39)	D357G	probably damaging	Het
Nacad	T	A	11: 6,552,540 (GRCm39)	H217L	probably benign	Het
Ncoa1	A	G	12: 4,345,433 (GRCm39)	V638A	probably damaging	Het
Nlrp3	T	G	11: 59,439,862 (GRCm39)	F480V	probably damaging	Het
Nos1ap	A	G	1: 170,146,127 (GRCm39)	W476R	possibly damaging	Het
Nr1h4	T	A	10: 89,316,421 (GRCm39)	T220S	possibly damaging	Het
Ntf5	G	T	7: 45,065,176 (GRCm39)	V103L	probably damaging	Het
Ntm	C	A	9: 29,090,393 (GRCm39)	D109Y	probably damaging	Het
Or7e178	C	T	9: 20,226,142 (GRCm39)	E17K	probably benign	Het
P2rx7	G	A	5: 122,819,015 (GRCm39)	C479Y	probably damaging	Het
Pappa2	T	A	1: 158,631,073 (GRCm39)		probably null	Het
Pgap1	A	C	1: 54,551,120 (GRCm39)	I520R	probably benign	Het
Pikfyve	G	A	1: 65,231,454 (GRCm39)		probably null	Het
Plekhg3	T	C	12: 76,622,991 (GRCm39)	S744P	probably benign	Het
Pramel6	A	G	2: 87,339,526 (GRCm39)	R97G	probably damaging	Het
Pramel6	G	T	2: 87,339,527 (GRCm39)	R97M	probably damaging	Het
Psme4	T	C	11: 30,760,922 (GRCm39)	V397A	probably damaging	Het
Ptk2b	T	C	14: 66,396,119 (GRCm39)	D783G	probably damaging	Het
Ptma-ps1	T	A	7: 23,763,306 (GRCm39)	L17*	probably null	Het
Ralgapa2	C	A	2: 146,229,621 (GRCm39)	R1053L	probably damaging	Het
Sap130	C	T	18: 31,813,620 (GRCm39)	P559L	possibly damaging	Het
Sap30	T	C	8: 57,940,345 (GRCm39)	S86G	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sema3f	G	T	9: 107,561,575 (GRCm39)	Q500K	probably damaging	Het
Serpinb3d	T	C	1: 107,007,014 (GRCm39)	I231M	possibly damaging	Het
Sf3a1	T	A	11: 4,126,678 (GRCm39)	N563K	probably benign	Het
Sipa1l3	A	G	7: 29,038,592 (GRCm39)	S352P	possibly damaging	Het
Slc6a12	G	T	6: 121,324,402 (GRCm39)	E9*	probably null	Het
Srebf1	T	C	11: 60,095,319 (GRCm39)	D400G	probably damaging	Het
Swsap1	T	C	9: 21,867,988 (GRCm39)	Y87H	probably damaging	Het
Tanc2	G	A	11: 105,813,689 (GRCm39)	G1711D	possibly damaging	Het
Tas2r107	T	C	6: 131,636,951 (GRCm39)	M33V	probably benign	Het
Tdrd9	T	A	12: 112,030,061 (GRCm39)		probably benign	Het
Tdrp	T	C	8: 14,004,079 (GRCm39)	D86G	probably damaging	Het
Tmem92	A	T	11: 94,669,501 (GRCm39)	M106K	probably benign	Het
Tmf1	A	T	6: 97,138,440 (GRCm39)	C764S	possibly damaging	Het
Ttc21a	G	T	9: 119,795,823 (GRCm39)	R1219L	possibly damaging	Het
Ttn	C	T	2: 76,593,792 (GRCm39)	G18870D	probably damaging	Het
Tubgcp6	T	C	15: 88,984,811 (GRCm39)	Y1732C	probably damaging	Het
Vmn1r28	A	G	6: 58,242,912 (GRCm39)	T252A	probably benign	Het
Xirp2	A	G	2: 67,346,700 (GRCm39)	I2980M	probably damaging	Het
Zc2hc1c	A	G	12: 85,337,288 (GRCm39)	D315G	probably benign	Het

Other mutations in Grik1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Grik1	APN	16	87,754,488 (GRCm39)	splice site	probably null
IGL01347:Grik1	APN	16	87,754,481 (GRCm39)	missense	probably benign	0.00
IGL01612:Grik1	APN	16	87,743,623 (GRCm39)	missense	probably damaging	1.00
IGL02010:Grik1	APN	16	87,848,396 (GRCm39)	missense	possibly damaging	0.96
IGL02059:Grik1	APN	16	87,852,937 (GRCm39)	missense	possibly damaging	0.95
IGL02068:Grik1	APN	16	87,737,539 (GRCm39)	missense	possibly damaging	0.80
IGL02200:Grik1	APN	16	87,737,453 (GRCm39)	missense	probably damaging	1.00
IGL02206:Grik1	APN	16	87,732,808 (GRCm39)	missense	probably damaging	1.00
IGL02375:Grik1	APN	16	87,743,444 (GRCm39)	missense	probably damaging	1.00
IGL02598:Grik1	APN	16	87,744,872 (GRCm39)	missense	probably damaging	1.00
IGL02686:Grik1	APN	16	87,806,649 (GRCm39)	splice site	probably null
IGL02890:Grik1	APN	16	87,693,690 (GRCm39)	intron	probably benign
R0096:Grik1	UTSW	16	87,831,114 (GRCm39)	missense	possibly damaging	0.55
R0096:Grik1	UTSW	16	87,831,114 (GRCm39)	missense	possibly damaging	0.55
R0387:Grik1	UTSW	16	87,831,238 (GRCm39)	splice site	probably benign
R0613:Grik1	UTSW	16	87,848,221 (GRCm39)	critical splice donor site	probably null
R1087:Grik1	UTSW	16	87,803,265 (GRCm39)	missense	probably benign	0.00
R1694:Grik1	UTSW	16	87,746,956 (GRCm39)	missense	probably damaging	0.96
R1928:Grik1	UTSW	16	87,848,241 (GRCm39)	missense	probably damaging	0.99
R2157:Grik1	UTSW	16	87,853,012 (GRCm39)	missense	probably damaging	1.00
R3122:Grik1	UTSW	16	87,803,361 (GRCm39)	missense	probably damaging	1.00
R3906:Grik1	UTSW	16	87,803,337 (GRCm39)	missense	probably benign	0.00
R4194:Grik1	UTSW	16	87,743,616 (GRCm39)	missense	probably benign	0.45
R4343:Grik1	UTSW	16	87,693,140 (GRCm39)	missense	probably benign	0.00
R4349:Grik1	UTSW	16	87,754,431 (GRCm39)	missense	probably damaging	1.00
R4416:Grik1	UTSW	16	87,848,349 (GRCm39)	missense	probably benign	0.00
R4423:Grik1	UTSW	16	87,720,088 (GRCm39)	missense	probably benign	0.10
R4660:Grik1	UTSW	16	87,720,019 (GRCm39)	missense	probably damaging	1.00
R4804:Grik1	UTSW	16	87,754,457 (GRCm39)	missense	probably damaging	0.99
R5052:Grik1	UTSW	16	87,746,986 (GRCm39)	missense	probably benign	0.01
R5126:Grik1	UTSW	16	87,744,747 (GRCm39)	missense	probably damaging	1.00
R5334:Grik1	UTSW	16	87,720,082 (GRCm39)	frame shift	probably null
R5335:Grik1	UTSW	16	87,720,082 (GRCm39)	frame shift	probably null
R5337:Grik1	UTSW	16	87,720,082 (GRCm39)	frame shift	probably null
R5479:Grik1	UTSW	16	87,732,914 (GRCm39)	missense	probably damaging	1.00
R6141:Grik1	UTSW	16	87,693,760 (GRCm39)	missense	probably benign	0.00
R6188:Grik1	UTSW	16	87,852,959 (GRCm39)	missense	probably benign	0.06
R6335:Grik1	UTSW	16	87,744,794 (GRCm39)	missense	probably damaging	1.00
R6610:Grik1	UTSW	16	87,831,200 (GRCm39)	missense	probably damaging	1.00
R6737:Grik1	UTSW	16	87,848,279 (GRCm39)	missense	probably damaging	1.00
R7275:Grik1	UTSW	16	87,709,708 (GRCm39)	missense	probably benign	0.06
R7876:Grik1	UTSW	16	87,720,121 (GRCm39)	missense
R8021:Grik1	UTSW	16	87,711,110 (GRCm39)	missense
R8027:Grik1	UTSW	16	87,732,893 (GRCm39)	missense
R8096:Grik1	UTSW	16	87,803,355 (GRCm39)	missense
R8266:Grik1	UTSW	16	87,744,867 (GRCm39)	missense	probably benign
R8515:Grik1	UTSW	16	87,720,170 (GRCm39)	nonsense	probably null
R8922:Grik1	UTSW	16	87,693,167 (GRCm39)	missense	unknown
R9097:Grik1	UTSW	16	87,732,796 (GRCm39)	missense
R9125:Grik1	UTSW	16	87,852,956 (GRCm39)	missense
R9273:Grik1	UTSW	16	87,848,379 (GRCm39)	missense
R9286:Grik1	UTSW	16	87,848,315 (GRCm39)	missense
R9491:Grik1	UTSW	16	87,746,995 (GRCm39)	missense
RF016:Grik1	UTSW	16	87,831,074 (GRCm39)	missense
RF022:Grik1	UTSW	16	87,693,225 (GRCm39)	missense
X0018:Grik1	UTSW	16	87,743,484 (GRCm39)	missense	probably damaging	1.00
Z1177:Grik1	UTSW	16	87,743,572 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GACAACTTACCTTTGCTGAGAC -3'
(R):5'- TGCATGCAGATACACATGGC -3'

Sequencing Primer
(F):5'- AGGCATACGACACTTCAG -3'
(R):5'- GTTGCTGCCAGAATCTCT -3'

Posted On

2014-07-14