Mutagenetix > Incidental Mutation

Incidental Mutation 'R3897:Gria4'

309017

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

040808-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.627) question?

Stock #

R3897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4417896-4796234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4513260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 283 (D283V)

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: D283V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: D283V

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: D283V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: D283V

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: D283V

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

SMART Domains

Protein: ENSMUSP00000129316
Gene: ENSMUSG00000025892
AA Change: D283V

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: D283V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.1920

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (35/36)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,254,245 (GRCm39)	H184R	probably benign	Het
Ap1g1	A	G	8: 110,581,631 (GRCm39)	D633G	probably damaging	Het
Arhgef28	C	T	13: 98,093,084 (GRCm39)	R999H	probably damaging	Het
Armc3	T	C	2: 19,273,988 (GRCm39)	S341P	probably damaging	Het
Cmya5	T	C	13: 93,233,189 (GRCm39)	E633G	possibly damaging	Het
Colgalt1	G	A	8: 72,072,306 (GRCm39)	M275I	probably damaging	Het
Commd7	T	C	2: 153,464,710 (GRCm39)	T23A	probably benign	Het
Cts3	A	G	13: 61,712,800 (GRCm39)	Y307H	probably benign	Het
Dlgap4	C	A	2: 156,587,989 (GRCm39)	P89Q	probably damaging	Het
Ecm1	A	G	3: 95,643,298 (GRCm39)	L334P	probably damaging	Het
Fzd8	G	A	18: 9,214,939 (GRCm39)	V674I	possibly damaging	Het
Gosr2	A	G	11: 103,588,472 (GRCm39)	Y5H	possibly damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Iqcm	C	T	8: 76,480,028 (GRCm39)	R329C	probably damaging	Het
Kdm4b	T	C	17: 56,703,955 (GRCm39)	C233R	probably damaging	Het
Ltbp1	T	C	17: 75,581,011 (GRCm39)	C391R	probably damaging	Het
Man2b1	G	T	8: 85,823,577 (GRCm39)		probably benign	Het
Mgat4f	A	G	1: 134,318,176 (GRCm39)	D316G	possibly damaging	Het
Nisch	A	G	14: 30,912,957 (GRCm39)		probably benign	Het
Nrxn2	T	G	19: 6,569,287 (GRCm39)	D1394E	probably damaging	Het
Or4c12	T	C	2: 89,774,153 (GRCm39)	E102G	probably benign	Het
Or4k77	T	C	2: 111,199,106 (GRCm39)	L43P	possibly damaging	Het
Pabpc6	T	C	17: 9,888,056 (GRCm39)	D165G	probably benign	Het
Psat1	A	G	19: 15,896,817 (GRCm39)		probably null	Het
Psd	A	C	19: 46,313,024 (GRCm39)	N115K	possibly damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rnf144a	A	G	12: 26,360,712 (GRCm39)	V275A	probably damaging	Het
Slc35b3	A	G	13: 39,118,739 (GRCm39)	F356L	probably benign	Het
Tmc4	A	G	7: 3,674,087 (GRCm39)	V364A	probably benign	Het
Tmem203	T	C	2: 25,145,935 (GRCm39)	F85S	probably benign	Het
Tra2a	T	C	6: 49,222,476 (GRCm39)		probably benign	Het
Ttc21b	C	T	2: 66,065,413 (GRCm39)	E454K	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
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

Predicted Primers

PCR Primer
(F):5'- TTGGCTTGGCAGTTAAGAAAAC -3'
(R):5'- ACCTATACACTGTTGAAGAAGAGG -3'

Sequencing Primer
(F):5'- TGCTCTTCCAAAGGTCCAGAG -3'
(R):5'- TGGAGGAGCAAATGTCAC -3'

Posted On

2015-04-17