Mutagenetix > Incidental Mutation

Incidental Mutation 'R2397:Gria4'

248560

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

040364-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.690) question?

Stock #

R2397 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4417896-4796234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4537717 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 197 (L197P)

Ref Sequence

ENSEMBL: ENSMUSP00000148533 (fasta)

Gene Model

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

AlphaFold

Q9Z2W8

Predicted Effect

probably damaging
Transcript: ENSMUST00000027020
AA Change: L197P

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

SMART Domains

Protein: ENSMUSP00000027020
Gene: ENSMUSG00000025892
AA Change: L197P

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: L197P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066980
Gene: ENSMUSG00000025892
AA Change: L197P

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: L197P

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

SMART Domains

Protein: ENSMUSP00000129316
Gene: ENSMUSG00000025892
AA Change: L197P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000212533
AA Change: L197P

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

Meta Mutation Damage Score

0.8948

Coding Region Coverage

1x: 99.0%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

98% (41/42)

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
Adam29	T	A	8: 56,325,933 (GRCm39)	M174L	probably benign	Het
Adamtsl1	C	T	4: 86,117,594 (GRCm39)	R186W	probably damaging	Het
Agtpbp1	C	T	13: 59,622,383 (GRCm39)	V948I	probably benign	Het
Atp13a2	A	G	4: 140,730,466 (GRCm39)	T787A	probably benign	Het
Capn11	T	A	17: 45,964,147 (GRCm39)	N139I	probably damaging	Het
Cars1	T	C	7: 143,146,244 (GRCm39)	D60G	possibly damaging	Het
Cers1	A	T	8: 70,774,186 (GRCm39)	I148F	probably benign	Het
Col14a1	T	C	15: 55,201,835 (GRCm39)	I41T	unknown	Het
Cyp2d26	C	T	15: 82,678,236 (GRCm39)	G47R	probably damaging	Het
Dhx36	A	T	3: 62,405,518 (GRCm39)	M205K	probably benign	Het
Dyrk2	T	A	10: 118,697,273 (GRCm39)		probably benign	Het
Echs1	T	C	7: 139,692,390 (GRCm39)	H119R	possibly damaging	Het
Ehf	T	A	2: 103,107,164 (GRCm39)	D120V	probably damaging	Het
Esrra	A	G	19: 6,897,544 (GRCm39)	L71P	probably damaging	Het
Fam228a	A	T	12: 4,768,718 (GRCm39)	S200R	probably benign	Het
Fibcd1	A	T	2: 31,724,435 (GRCm39)	M191K	probably benign	Het
Foxn4	A	G	5: 114,393,556 (GRCm39)	L521P	probably damaging	Het
Fscn2	T	C	11: 120,252,995 (GRCm39)	L154P	probably damaging	Het
Gm7964	T	G	7: 83,406,321 (GRCm39)		noncoding transcript	Het
Golga3	T	C	5: 110,353,743 (GRCm39)		probably benign	Het
Heg1	T	A	16: 33,562,849 (GRCm39)	M913K	probably damaging	Het
Ifi205	T	C	1: 173,845,141 (GRCm39)	T214A	possibly damaging	Het
Ift140	T	G	17: 25,239,710 (GRCm39)	D122E	probably damaging	Het
Jakmip1	T	A	5: 37,258,087 (GRCm39)	D244E	probably damaging	Het
Krt84	A	G	15: 101,438,689 (GRCm39)	V266A	probably benign	Het
Mc2r	T	A	18: 68,541,224 (GRCm39)	D23V	probably benign	Het
Ncr1	T	A	7: 4,341,260 (GRCm39)	F47I	probably benign	Het
Nr1h3	G	A	2: 91,022,202 (GRCm39)	T142I	possibly damaging	Het
Obox2	C	T	7: 15,130,971 (GRCm39)	P68S	probably benign	Het
Pacs2	G	A	12: 113,026,987 (GRCm39)	D605N	probably damaging	Het
Parn	A	G	16: 13,384,518 (GRCm39)	V515A	probably benign	Het
Ptdss2	T	A	7: 140,727,005 (GRCm39)	F105I	probably benign	Het
Ruvbl1	A	C	6: 88,442,534 (GRCm39)	T9P	possibly damaging	Het
Slc15a3	A	G	19: 10,820,407 (GRCm39)	E8G	probably benign	Het
Slf1	G	T	13: 77,251,702 (GRCm39)	Y303*	probably null	Het
Socs5	T	C	17: 87,442,377 (GRCm39)	F439S	probably damaging	Het
Tcp10c	C	A	17: 13,590,473 (GRCm39)	A357E	probably damaging	Het
Tmem200c	T	C	17: 69,147,942 (GRCm39)	V175A	probably damaging	Het
Vmn2r124	T	A	17: 18,269,859 (GRCm39)	H38Q	possibly damaging	Het
Vmn2r54	T	G	7: 12,349,578 (GRCm39)	Q668P	probably damaging	Het
Xrcc2	T	C	5: 25,910,708 (GRCm39)	S3G	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CAACTGTACCTAAGGACTAAAGGAC -3'
(R):5'- TGGATCCAGTCTATAACAAAAGTCC -3'

Sequencing Primer
(F):5'- CCTAAGGACTAAAGGACACTTTTTAC -3'
(R):5'- TCCAGTCTATAACAAAAGTCCAAAGG -3'

Posted On

2014-11-11