Mutagenetix > Incidental Mutation

Incidental Mutation 'R8044:Gria4'

618672

Institutional Source

Beutler Lab

Gene Symbol

Gria4

Ensembl Gene

ENSMUSG00000025892

Gene Name

glutamate receptor, ionotropic, AMPA4 (alpha 4)

Synonyms

Glur-4, spkw1, Gluralpha4, Glur4

MMRRC Submission

067481-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.627) question?

Stock #

R8044 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4417896-4796234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4456216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 695 (Y695H)

Ref Sequence

ENSEMBL: ENSMUSP00000066980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027020] [ENSMUST00000063508] [ENSMUST00000212533]

AlphaFold

Q9Z2W8

Predicted Effect

probably damaging
Transcript: ENSMUST00000027020
AA Change: Y695H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: Y695H

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ANF_receptor	39	380	3e-61	PFAM
PBPe	416	791	8.23e-129	SMART
Lig_chan-Glu_bd	426	491	3.4e-31	SMART
low complexity region	821	833	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000063508
AA Change: Y695H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: Y695H

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ANF_receptor	39	380	2.5e-71	PFAM
PBPe	416	791	2.06e-129	SMART
Lig_chan-Glu_bd	426	491	3.4e-31	SMART
low complexity region	821	833	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000212533
AA Change: Y695H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (36/36)

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. These receptors are heteromeric protein complexes composed of multiple subunits, arranged to form ligand-gated ion channels. The classification of glutamate receptors is based on their activation by different pharmacologic agonists. The subunit encoded by this gene belongs to a family of AMPA (alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate)-sensitive glutamate receptors, and is subject to RNA editing (AGA->GGA; R->G). Alternative splicing of this gene results in transcript variants encoding different isoforms, which may vary in their signal transduction properties. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation display hyperactivity, decreased thermal nociception, and abnormal sensitivity to pharmacologically induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524J17Rik	T	C	8: 86,138,747 (GRCm39)	E114G	possibly damaging	Het
Abcc4	ACCAGCCC	ACC	14: 118,852,682 (GRCm39)		probably null	Het
Adgrv1	A	T	13: 81,588,344 (GRCm39)	V4414E	possibly damaging	Het
Asb7	T	C	7: 66,309,511 (GRCm39)	N235S	probably benign	Het
Atrn	A	T	2: 130,777,449 (GRCm39)	N166I	probably damaging	Het
Cd300ld2	C	T	11: 114,904,545 (GRCm39)	W107*	probably null	Het
Chl1	A	T	6: 103,683,593 (GRCm39)	E806D	probably damaging	Het
Dnajb12	A	G	10: 59,732,172 (GRCm39)	K337R	possibly damaging	Het
Dock5	T	C	14: 68,062,141 (GRCm39)	D409G	probably damaging	Het
Efhb	G	A	17: 53,706,143 (GRCm39)	S798L	probably benign	Het
Gpd1	T	C	15: 99,621,083 (GRCm39)	F322S	probably damaging	Het
Ipo8	A	G	6: 148,711,421 (GRCm39)	F289S	probably damaging	Het
Jakmip1	A	G	5: 37,311,988 (GRCm39)	E72G	unknown	Het
Mettl14	T	C	3: 123,163,309 (GRCm39)	N366S	probably benign	Het
Ntrk2	A	G	13: 59,274,313 (GRCm39)	T730A	probably damaging	Het
Or5b101	T	C	19: 13,004,829 (GRCm39)	Y288C	probably damaging	Het
Otop3	T	C	11: 115,237,261 (GRCm39)	L575P	probably damaging	Het
Piwil2	T	C	14: 70,628,887 (GRCm39)	S710G	possibly damaging	Het
Pramel32	T	G	4: 88,548,212 (GRCm39)	E64D	possibly damaging	Het
Ptpra	A	G	2: 130,386,881 (GRCm39)	K627E	possibly damaging	Het
Rab24	A	G	13: 55,469,345 (GRCm39)		probably benign	Het
Rbm20	C	A	19: 53,806,402 (GRCm39)	A494D	probably benign	Het
Rpe65	T	C	3: 159,320,342 (GRCm39)	F300L	probably benign	Het
St6gal1	G	A	16: 23,176,585 (GRCm39)	A393T	probably benign	Het
Tert	A	G	13: 73,783,568 (GRCm39)	E590G	probably damaging	Het
Tlr4	C	A	4: 66,746,084 (GRCm39)	L6I	probably benign	Het
Trim3	G	A	7: 105,262,465 (GRCm39)		silent	Het
Tubg1	G	T	11: 101,014,854 (GRCm39)	A199S	probably benign	Het
Ube3a	A	T	7: 58,926,320 (GRCm39)	H387L	possibly damaging	Het
Ugt1a7c	G	A	1: 88,023,278 (GRCm39)	V146M	probably damaging	Het
Upf2	T	C	2: 6,034,249 (GRCm39)	I974T	unknown	Het
Vmn1r38	A	T	6: 66,753,516 (GRCm39)	I200N	probably benign	Het
Wnt5b	A	G	6: 119,423,319 (GRCm39)	V115A	probably damaging	Het
Xpo7	C	A	14: 70,922,366 (GRCm39)	R574L	probably benign	Het

Other mutations in Gria4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00814:Gria4	APN	9	4,472,202 (GRCm39)	missense	probably damaging	0.98
IGL01451:Gria4	APN	9	4,503,652 (GRCm39)	missense	probably benign	0.04
IGL01533:Gria4	APN	9	4,502,395 (GRCm39)	missense	probably damaging	1.00
IGL01994:Gria4	APN	9	4,537,726 (GRCm39)	missense	probably damaging	1.00
IGL02078:Gria4	APN	9	4,793,878 (GRCm39)	missense	probably damaging	0.98
IGL02183:Gria4	APN	9	4,502,460 (GRCm39)	missense	probably damaging	1.00
IGL02351:Gria4	APN	9	4,456,206 (GRCm39)	missense	possibly damaging	0.84
IGL02358:Gria4	APN	9	4,456,206 (GRCm39)	missense	possibly damaging	0.84
IGL03118:Gria4	APN	9	4,793,804 (GRCm39)	splice site	probably benign
IGL03131:Gria4	APN	9	4,432,876 (GRCm39)	missense	probably damaging	0.96
IGL03148:Gria4	APN	9	4,464,295 (GRCm39)	missense	possibly damaging	0.91
IGL03264:Gria4	APN	9	4,513,288 (GRCm39)	missense	probably benign
PIT4812001:Gria4	UTSW	9	4,427,128 (GRCm39)	missense	probably damaging	1.00
R0018:Gria4	UTSW	9	4,432,843 (GRCm39)	missense	possibly damaging	0.71
R0295:Gria4	UTSW	9	4,793,840 (GRCm39)	missense	possibly damaging	0.69
R0654:Gria4	UTSW	9	4,464,372 (GRCm39)	missense	probably benign	0.32
R0690:Gria4	UTSW	9	4,427,071 (GRCm39)	missense	probably damaging	1.00
R0992:Gria4	UTSW	9	4,795,238 (GRCm39)	missense	probably benign
R1517:Gria4	UTSW	9	4,793,865 (GRCm39)	missense	probably damaging	1.00
R1673:Gria4	UTSW	9	4,537,637 (GRCm39)	nonsense	probably null
R1713:Gria4	UTSW	9	4,424,448 (GRCm39)	missense	probably benign	0.20
R1961:Gria4	UTSW	9	4,519,546 (GRCm39)	splice site	probably benign
R2137:Gria4	UTSW	9	4,427,026 (GRCm39)	intron	probably benign
R2397:Gria4	UTSW	9	4,537,717 (GRCm39)	missense	probably damaging	1.00
R2870:Gria4	UTSW	9	4,503,614 (GRCm39)	missense	probably damaging	0.96
R2870:Gria4	UTSW	9	4,503,614 (GRCm39)	missense	probably damaging	0.96
R3014:Gria4	UTSW	9	4,464,294 (GRCm39)	missense	probably damaging	0.97
R3412:Gria4	UTSW	9	4,513,278 (GRCm39)	missense	probably benign	0.00
R3732:Gria4	UTSW	9	4,513,295 (GRCm39)	missense	probably benign
R3732:Gria4	UTSW	9	4,513,295 (GRCm39)	missense	probably benign
R3733:Gria4	UTSW	9	4,513,295 (GRCm39)	missense	probably benign
R3897:Gria4	UTSW	9	4,513,260 (GRCm39)	missense	probably damaging	1.00
R4404:Gria4	UTSW	9	4,464,489 (GRCm39)	splice site	probably null
R4457:Gria4	UTSW	9	4,427,074 (GRCm39)	missense	probably damaging	1.00
R4672:Gria4	UTSW	9	4,664,981 (GRCm39)	missense	possibly damaging	0.96
R4865:Gria4	UTSW	9	4,464,295 (GRCm39)	missense	possibly damaging	0.91
R5092:Gria4	UTSW	9	4,472,176 (GRCm39)	missense	probably benign	0.01
R5109:Gria4	UTSW	9	4,472,168 (GRCm39)	missense	probably damaging	1.00
R5202:Gria4	UTSW	9	4,424,330 (GRCm39)	missense	probably benign	0.10
R5828:Gria4	UTSW	9	4,432,832 (GRCm39)	missense	probably damaging	1.00
R5945:Gria4	UTSW	9	4,456,122 (GRCm39)	missense	probably damaging	1.00
R5985:Gria4	UTSW	9	4,503,593 (GRCm39)	missense	probably damaging	0.99
R6036:Gria4	UTSW	9	4,537,646 (GRCm39)	missense	probably benign	0.00
R6036:Gria4	UTSW	9	4,537,646 (GRCm39)	missense	probably benign	0.00
R6111:Gria4	UTSW	9	4,502,430 (GRCm39)	missense	probably damaging	1.00
R6190:Gria4	UTSW	9	4,420,199 (GRCm39)	missense	probably benign
R6280:Gria4	UTSW	9	4,456,072 (GRCm39)	missense	probably damaging	1.00
R6406:Gria4	UTSW	9	4,427,077 (GRCm39)	missense	probably damaging	1.00
R6470:Gria4	UTSW	9	4,503,680 (GRCm39)	missense	probably damaging	1.00
R6485:Gria4	UTSW	9	4,464,249 (GRCm39)	missense	probably damaging	1.00
R6612:Gria4	UTSW	9	4,472,206 (GRCm39)	missense	possibly damaging	0.93
R6848:Gria4	UTSW	9	4,793,822 (GRCm39)	missense	probably damaging	1.00
R7046:Gria4	UTSW	9	4,420,278 (GRCm39)	missense	probably damaging	0.97
R7210:Gria4	UTSW	9	4,464,135 (GRCm39)	missense	probably damaging	1.00
R7284:Gria4	UTSW	9	4,472,017 (GRCm39)	missense	probably damaging	1.00
R7475:Gria4	UTSW	9	4,513,330 (GRCm39)	missense	probably damaging	1.00
R7501:Gria4	UTSW	9	4,502,436 (GRCm39)	missense	probably benign	0.01
R7536:Gria4	UTSW	9	4,464,298 (GRCm39)	missense	probably damaging	1.00
R7604:Gria4	UTSW	9	4,464,315 (GRCm39)	missense	probably damaging	1.00
R7643:Gria4	UTSW	9	4,793,950 (GRCm39)	missense	probably benign	0.00
R7669:Gria4	UTSW	9	4,462,029 (GRCm39)	missense	probably damaging	1.00
R7703:Gria4	UTSW	9	4,503,588 (GRCm39)	missense	probably benign
R7720:Gria4	UTSW	9	4,464,288 (GRCm39)	missense	probably damaging	1.00
R7724:Gria4	UTSW	9	4,472,074 (GRCm39)	missense	probably damaging	1.00
R7909:Gria4	UTSW	9	4,464,450 (GRCm39)	missense	probably damaging	1.00
R8007:Gria4	UTSW	9	4,503,740 (GRCm39)	splice site	probably benign
R8062:Gria4	UTSW	9	4,480,273 (GRCm39)	missense	possibly damaging	0.54
R8131:Gria4	UTSW	9	4,502,429 (GRCm39)	missense	probably benign	0.16
R8212:Gria4	UTSW	9	4,480,242 (GRCm39)	missense	probably benign
R8478:Gria4	UTSW	9	4,793,882 (GRCm39)	missense	probably damaging	1.00
R8699:Gria4	UTSW	9	4,424,351 (GRCm39)	missense	probably damaging	1.00
R8699:Gria4	UTSW	9	4,424,347 (GRCm39)	missense	probably damaging	1.00
R8785:Gria4	UTSW	9	4,795,189 (GRCm39)	missense	possibly damaging	0.92
R8785:Gria4	UTSW	9	4,456,106 (GRCm39)	missense	probably damaging	1.00
R8888:Gria4	UTSW	9	4,664,951 (GRCm39)	missense	probably damaging	1.00
R8895:Gria4	UTSW	9	4,664,951 (GRCm39)	missense	probably damaging	1.00
R9160:Gria4	UTSW	9	4,424,412 (GRCm39)	missense	probably damaging	1.00
R9498:Gria4	UTSW	9	4,503,560 (GRCm39)	critical splice donor site	probably null
R9743:Gria4	UTSW	9	4,464,457 (GRCm39)	missense	probably damaging	1.00
X0023:Gria4	UTSW	9	4,427,067 (GRCm39)	missense	probably damaging	1.00
X0065:Gria4	UTSW	9	4,464,340 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TGGAATCCAGGTTTCCTCCC -3'
(R):5'- CTCATCACTATAAATGTCTGGCAC -3'

Sequencing Primer
(F):5'- CACTTTCATCGTGTCACAGGG -3'
(R):5'- AAATGTCTGGCACTTGGTTTATTTC -3'

Posted On

2020-01-23