Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03148:Gria4'

410985

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gria4

Ensembl Gene

ENSMUSG00000025892

Gene Name

glutamate receptor, ionotropic, AMPA4 (alpha 4)

Synonyms

Glur-4, spkw1, Gluralpha4, Glur4

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.627) question?

Stock #

IGL03148

Quality Score

Status

Chromosome

Chromosomal Location

4417896-4796234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4464295 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 556 (I556F)

Ref Sequence

ENSEMBL: ENSMUSP00000148533 (fasta)

Gene Model

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

AlphaFold

Q9Z2W8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027020
AA Change: I556F

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: I556F

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

possibly damaging
Transcript: ENSMUST00000063508
AA Change: I556F

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: I556F

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

possibly damaging
Transcript: ENSMUST00000212533
AA Change: I556F

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.5921

Coding Region Coverage

Validation Efficiency

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	G	11: 99,728,079 (GRCm39)	S255P	unknown	Het
Adamtsl2	T	A	2: 26,974,071 (GRCm39)	Y125N	probably damaging	Het
Ankrd9	T	C	12: 110,943,293 (GRCm39)	E214G	probably benign	Het
Bhmt2	T	A	13: 93,803,161 (GRCm39)	D124V	possibly damaging	Het
Ccdc150	A	G	1: 54,317,874 (GRCm39)	H271R	possibly damaging	Het
Clcn1	T	G	6: 42,276,925 (GRCm39)		probably null	Het
Col6a3	T	A	1: 90,755,588 (GRCm39)	I234F	probably benign	Het
Cpa5	T	A	6: 30,630,436 (GRCm39)	M330K	probably damaging	Het
Csmd2	G	A	4: 128,278,062 (GRCm39)	C995Y	probably damaging	Het
D630003M21Rik	T	C	2: 158,059,144 (GRCm39)	E252G	probably damaging	Het
Dhrs1	A	T	14: 55,978,748 (GRCm39)	Y133*	probably null	Het
Dnaaf10	G	A	11: 17,179,845 (GRCm39)	G282E	probably damaging	Het
Dock10	T	C	1: 80,518,075 (GRCm39)	I1300V	probably benign	Het
Efcab12	T	C	6: 115,787,952 (GRCm39)	Y670C	probably damaging	Het
Frg1	T	G	8: 41,864,321 (GRCm39)	K66N	probably benign	Het
Gbp2b	C	A	3: 142,312,642 (GRCm39)	H342N	probably benign	Het
Kcnh1	T	G	1: 191,959,307 (GRCm39)	I287S	probably damaging	Het
Map1b	A	G	13: 99,578,203 (GRCm39)	L150P	probably damaging	Het
Map3k4	C	T	17: 12,457,045 (GRCm39)	R1299Q	probably benign	Het
Mapk10	T	C	5: 103,073,971 (GRCm39)	N407D	probably damaging	Het
Mcemp1	T	A	8: 3,717,390 (GRCm39)		probably null	Het
Nav1	A	C	1: 135,397,762 (GRCm39)	N802K	possibly damaging	Het
Pcdhb2	T	A	18: 37,429,831 (GRCm39)	N601K	probably damaging	Het
Pi4ka	T	A	16: 17,172,053 (GRCm39)	H564L	probably damaging	Het
Pnp	T	A	14: 51,188,185 (GRCm39)		probably benign	Het
Ppp2r2a	G	T	14: 67,259,744 (GRCm39)	N317K	probably benign	Het
Pramel47	A	G	5: 95,489,177 (GRCm39)	T207A	possibly damaging	Het
Rars2	A	T	4: 34,650,243 (GRCm39)	I343F	possibly damaging	Het
Rnf213	T	C	11: 119,355,833 (GRCm39)	F4092S	probably damaging	Het
Tcp11	A	G	17: 28,289,444 (GRCm39)	V209A	possibly damaging	Het
Tet2	T	C	3: 133,187,124 (GRCm39)	S1102G	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
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
R8044:Gria4	UTSW	9	4,456,216 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02