Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01533:Gria4'

89833

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: 0.690) question?

Stock #

IGL01533

Quality Score

Status

Chromosome

Chromosomal Location

4417896-4796234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 4502395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 379 (L379F)

Ref Sequence

ENSEMBL: ENSMUSP00000129316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027020] [ENSMUST00000063508] [ENSMUST00000163309] [ENSMUST00000212533]

AlphaFold

Q9Z2W8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027020
AA Change: L379F

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: L379F

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: L379F

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: L379F

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: ENSMUST00000163309
AA Change: L379F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129316
Gene: ENSMUSG00000025892
AA Change: L379F

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ANF_receptor	39	380	3.2e-62	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212533
AA Change: L379F

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	C	A	18: 67,538,488 (GRCm39)	E757*	probably null	Het
Arhgap15	T	C	2: 44,133,165 (GRCm39)	V357A	probably damaging	Het
Asb13	T	C	13: 3,692,164 (GRCm39)	V48A	probably benign	Het
Bbs7	T	C	3: 36,664,384 (GRCm39)	R74G	possibly damaging	Het
Capn11	T	C	17: 45,943,830 (GRCm39)	H568R	probably benign	Het
Cbx5	T	C	15: 103,114,061 (GRCm39)	E61G	probably damaging	Het
Ccdc158	T	C	5: 92,757,815 (GRCm39)		probably null	Het
Col14a1	C	A	15: 55,284,236 (GRCm39)	N832K	unknown	Het
Cyp2a4	A	T	7: 26,007,969 (GRCm39)	K125N	probably damaging	Het
Dhx16	T	C	17: 36,192,939 (GRCm39)	L215P	probably damaging	Het
Dtx4	T	C	19: 12,455,579 (GRCm39)	M480V	possibly damaging	Het
Edaradd	A	G	13: 12,493,463 (GRCm39)		probably benign	Het
Galnt13	T	A	2: 54,770,144 (GRCm39)	M312K	probably damaging	Het
Gcdh	T	A	8: 85,615,991 (GRCm39)	R337W	probably damaging	Het
Gm28557	A	T	13: 67,219,396 (GRCm39)	C109*	probably null	Het
Gpr22	C	T	12: 31,758,709 (GRCm39)		probably benign	Het
Gxylt2	T	C	6: 100,760,098 (GRCm39)	L211P	probably damaging	Het
Igsf10	T	A	3: 59,226,651 (GRCm39)	I2341F	probably damaging	Het
Macf1	T	C	4: 123,367,666 (GRCm39)	D2365G	probably damaging	Het
Morc2b	A	G	17: 33,354,695 (GRCm39)		probably benign	Het
Ncoa3	T	C	2: 165,896,945 (GRCm39)	S579P	probably benign	Het
Nlgn1	T	C	3: 25,490,527 (GRCm39)	N400S	possibly damaging	Het
Or5w17	C	A	2: 87,583,412 (GRCm39)	R308S	probably benign	Het
Or8g17	C	T	9: 38,930,097 (GRCm39)	A247T	probably damaging	Het
Pi4ka	A	G	16: 17,126,065 (GRCm39)	S1102P	probably benign	Het
Polr1e	A	G	4: 45,019,328 (GRCm39)	Y59C	probably damaging	Het
Prex2	C	T	1: 11,256,965 (GRCm39)	Q1226*	probably null	Het
Rab12	A	T	17: 66,804,430 (GRCm39)	I176K	probably damaging	Het
Ryr2	A	T	13: 11,736,676 (GRCm39)	N2250K	probably damaging	Het
Sbf1	T	C	15: 89,172,919 (GRCm39)	T1865A	probably damaging	Het
Sema6b	G	A	17: 56,436,499 (GRCm39)		probably benign	Het
Smarcb1	C	T	10: 75,752,602 (GRCm39)		probably null	Het
Sos1	A	G	17: 80,722,511 (GRCm39)	L845S	probably damaging	Het
Stat4	T	A	1: 52,137,578 (GRCm39)	N456K	probably damaging	Het
Tex264	A	G	9: 106,550,798 (GRCm39)	I133T	probably benign	Het
Thoc1	T	C	18: 9,962,376 (GRCm39)	V87A	probably benign	Het
Tmem131	C	T	1: 36,857,803 (GRCm39)	D778N	probably damaging	Het
Tspan14	A	G	14: 40,638,776 (GRCm39)	I88T	probably benign	Het
Ttn	C	A	2: 76,562,918 (GRCm39)	V28679L	possibly damaging	Het
Ttn	A	G	2: 76,782,285 (GRCm39)	S984P	probably damaging	Het
Vangl1	T	C	3: 102,070,667 (GRCm39)	E423G	possibly damaging	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
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
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

2013-12-03