Mutagenetix > Incidental Mutation

Incidental Mutation 'R7555:Grm3'

584683

Institutional Source

Beutler Lab

Gene Symbol

Grm3

Ensembl Gene

ENSMUSG00000003974

Gene Name

glutamate receptor, metabotropic 3

Synonyms

Gprc1c, mGlu3, mGluR3, 0710001G23Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7555 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

9485541-9725170 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 9570000 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 415 (T415A)

Ref Sequence

ENSEMBL: ENSMUSP00000004076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004076]

AlphaFold

Q9QYS2

Predicted Effect

probably benign
Transcript: ENSMUST00000004076
AA Change: T415A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000004076
Gene: ENSMUSG00000003974
AA Change: T415A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	67	473	4.8e-102	PFAM
Pfam:NCD3G	505	555	2.4e-14	PFAM
Pfam:7tm_3	588	825	4.7e-62	PFAM
low complexity region	849	861	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (83/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] L-glutamate is the major excitatory neurotransmitter in the central nervous system and activates both ionotropic and metabotropic glutamate receptors. Glutamatergic neurotransmission is involved in most aspects of normal brain function and can be perturbed in many neuropathologic conditions. The metabotropic glutamate receptors are a family of G protein-coupled receptors, that have been divided into 3 groups on the basis of sequence homology, putative signal transduction mechanisms, and pharmacologic properties. Group I includes GRM1 and GRM5 and these receptors have been shown to activate phospholipase C. Group II includes GRM2 and GRM3 while Group III includes GRM4, GRM6, GRM7 and GRM8. Group II and III receptors are linked to the inhibition of the cyclic AMP cascade but differ in their agonist selectivities. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation display normal morphology, clinical chemistry, hematology, and behavior. Mice homozygous for a knock-out allele exhibit altered neuroprotection. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	T	A	4: 144,522,354	I97N	probably damaging	Het
Acvrl1	A	G	15: 101,143,473	H502R	probably benign	Het
Adgrf4	T	C	17: 42,672,603	S63G	probably benign	Het
Agbl2	C	A	2: 90,791,555	L129I	probably damaging	Het
Ankrd11	C	A	8: 122,887,406	A2542S	probably damaging	Het
Armc9	A	G	1: 86,275,678	K818R	probably damaging	Het
Arsj	T	A	3: 126,438,236	C210*	probably null	Het
Aspscr1	C	T	11: 120,673,100	A11V	unknown	Het
Bicc1	G	T	10: 70,956,291	Q296K	possibly damaging	Het
Borcs5	A	C	6: 134,685,979	Q73P	probably benign	Het
Capn15	G	T	17: 25,963,432	D567E	probably damaging	Het
Catsperg1	A	C	7: 29,189,814	I866S	probably damaging	Het
Ccdc27	G	T	4: 154,041,817	H72N	unknown	Het
Ccser2	A	T	14: 36,879,500	M309K	possibly damaging	Het
Cd1d2	A	G	3: 86,987,101	S59G	probably benign	Het
Chml	G	A	1: 175,687,890	P155L	probably benign	Het
Csmd2	C	T	4: 128,452,458	P1504S		Het
Dcbld2	A	G	16: 58,448,718		probably null	Het
Ddx21	C	T	10: 62,598,243	E246K	probably benign	Het
Dhx29	C	T	13: 112,927,642		probably benign	Het
Dis3l	A	C	9: 64,311,937	Y570*	probably null	Het
Dnah14	T	A	1: 181,770,054	Y3623N	probably benign	Het
Dock8	A	G	19: 25,175,400	D1610G	probably damaging	Het
Dync1h1	T	C	12: 110,630,625	S1669P	probably benign	Het
Eif2ak4	T	A	2: 118,417,283	I267N	possibly damaging	Het
Ern2	A	T	7: 122,170,241	V854E	probably damaging	Het
Fuca2	G	A	10: 13,507,430		probably null	Het
Gbp10	G	A	5: 105,236,149		probably benign	Het
Gm1110	T	A	9: 26,893,628	T380S	probably benign	Het
Gm13128	T	C	4: 144,332,741	F341L	probably benign	Het
Gm5788	A	C	12: 87,494,735	K5N	unknown	Het
Gm6460	A	T	5: 11,597,612	N106Y	probably damaging	Het
Golga2	G	A	2: 32,288,166	R29H	probably benign	Het
Grik5	T	C	7: 25,060,597	E259G	probably benign	Het
Gtf3c1	A	G	7: 125,645,670	Y1731H	probably damaging	Het
Hectd2	T	C	19: 36,612,403	C643R	probably damaging	Het
Hgfac	T	C	5: 35,042,628	S118P	probably damaging	Het
Hmcn1	A	G	1: 150,604,874	V4517A	probably benign	Het
Hnrnpc	A	T	14: 52,075,153	L290*	probably null	Het
Homer3	A	G	8: 70,289,413	E108G	probably damaging	Het
Hsd17b3	G	T	13: 64,072,002	S141R	probably benign	Het
Hspa12b	C	T	2: 131,138,476	T105I	probably damaging	Het
Ifi202b	T	C	1: 173,972,221	I231M	probably damaging	Het
Inhba	T	A	13: 16,017,637	N114K	probably benign	Het
Kmt2b	C	A	7: 30,569,410	M2631I	possibly damaging	Het
Loxhd1	C	T	18: 77,395,365	T1214I	probably damaging	Het
Lrp1	G	T	10: 127,546,862	N3683K	probably damaging	Het
Lrrc8e	A	G	8: 4,234,363	K196R	probably benign	Het
Lrrn3	A	T	12: 41,452,911	M469K	probably benign	Het
Mafb	T	C	2: 160,365,829	E283G	probably damaging	Het
Mapt	C	A	11: 104,298,702	P182Q	probably benign	Het
Mmp14	G	T	14: 54,437,742	R277L	possibly damaging	Het
Mucl2	T	A	15: 103,897,445	N82I	probably benign	Het
Nsun6	T	A	2: 14,996,339	T469S	possibly damaging	Het
Olfr1076	A	C	2: 86,509,347	D296A	probably damaging	Het
Olfr1342	T	C	4: 118,689,642	D270G	possibly damaging	Het
Olfr507	G	C	7: 108,622,726	A305P	probably damaging	Het
Osbpl5	A	T	7: 143,694,933	F631I	possibly damaging	Het
Otud3	G	T	4: 138,901,885	D190E	possibly damaging	Het
Pcdhb6	A	T	18: 37,335,279	I418F	possibly damaging	Het
Per1	G	A	11: 69,106,513	R838H	probably damaging	Het
Per2	G	A	1: 91,435,135	P395S	probably damaging	Het
Per3	G	A	4: 151,018,058	Q583*	probably null	Het
Pkhd1l1	A	T	15: 44,550,761	H2808L	possibly damaging	Het
Ppfia2	A	G	10: 106,927,826	T1227A	probably benign	Het
Psg17	C	T	7: 18,817,094	D279N	probably benign	Het
Rnf167	A	G	11: 70,650,797	D235G	probably benign	Het
Rxfp3	A	G	15: 11,036,276	S337P	probably damaging	Het
Sall1	T	C	8: 89,033,158	D106G	possibly damaging	Het
Sema4f	A	G	6: 82,914,056	V590A	probably benign	Het
Setd1b	A	G	5: 123,157,757	D1102G	unknown	Het
Six2	C	A	17: 85,687,707	K82N	probably damaging	Het
Snx29	T	C	16: 11,400,942	M214T	probably benign	Het
Son	T	C	16: 91,658,922	L1519P	probably damaging	Het
Spin1	C	T	13: 51,149,049	S226L	probably benign	Het
Stxbp5l	T	C	16: 37,323,603	D131G	probably damaging	Het
Svep1	T	C	4: 58,069,422	Y2788C	probably damaging	Het
Tbl3	C	A	17: 24,701,976		probably null	Het
Themis	A	T	10: 28,781,702	I242L	possibly damaging	Het
Tmem203	G	A	2: 25,255,730	V21M	probably benign	Het
Trp53inp1	T	C	4: 11,169,750	C171R	probably benign	Het
Tsg101	A	G	7: 46,913,411	Y32H	probably damaging	Het
Tyw1	A	G	5: 130,274,706	D305G	probably damaging	Het
Vmn1r40	A	T	6: 89,715,044	Y281F	probably damaging	Het
Vmn2r105	T	A	17: 20,227,675	T296S	probably damaging	Het
Vmn2r13	T	C	5: 109,171,691		probably null	Het
Zfp933	A	G	4: 147,826,132	F336L	probably damaging	Het

Other mutations in Grm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Grm3	APN	5	9512290	missense	probably benign
IGL01393:Grm3	APN	5	9589856	missense	probably benign	0.00
IGL01398:Grm3	APN	5	9485762	unclassified	probably benign
IGL01825:Grm3	APN	5	9511600	missense	probably damaging	1.00
IGL01966:Grm3	APN	5	9511486	missense	probably damaging	0.98
IGL02367:Grm3	APN	5	9511660	missense	probably damaging	1.00
IGL02526:Grm3	APN	5	9589847	missense	probably damaging	1.00
IGL02972:Grm3	APN	5	9512410	missense	probably damaging	1.00
IGL03356:Grm3	APN	5	9512206	missense	possibly damaging	0.89
BB002:Grm3	UTSW	5	9589880	missense	probably benign	0.09
BB012:Grm3	UTSW	5	9589880	missense	probably benign	0.09
R0032:Grm3	UTSW	5	9511452	splice site	probably null
R0032:Grm3	UTSW	5	9511452	splice site	probably null
R0389:Grm3	UTSW	5	9504794	missense	probably damaging	1.00
R0455:Grm3	UTSW	5	9512477	missense	probably benign
R0538:Grm3	UTSW	5	9512446	missense	possibly damaging	0.95
R0553:Grm3	UTSW	5	9570048	missense	probably benign	0.16
R1124:Grm3	UTSW	5	9570297	missense	probably benign
R1163:Grm3	UTSW	5	9570738	missense	probably benign	0.34
R1440:Grm3	UTSW	5	9589958	missense	probably benign
R1635:Grm3	UTSW	5	9511520	missense	probably damaging	1.00
R1734:Grm3	UTSW	5	9589742	missense	probably benign	0.00
R1895:Grm3	UTSW	5	9512123	missense	probably damaging	1.00
R1926:Grm3	UTSW	5	9504881	missense	probably damaging	0.98
R1940:Grm3	UTSW	5	9511682	missense	probably damaging	1.00
R1946:Grm3	UTSW	5	9512123	missense	probably damaging	1.00
R2004:Grm3	UTSW	5	9589793	missense	possibly damaging	0.57
R2005:Grm3	UTSW	5	9589793	missense	possibly damaging	0.57
R2006:Grm3	UTSW	5	9589793	missense	possibly damaging	0.57
R3116:Grm3	UTSW	5	9570752	missense	probably damaging	1.00
R4083:Grm3	UTSW	5	9512054	missense	probably benign
R4537:Grm3	UTSW	5	9512083	missense	probably benign	0.02
R4855:Grm3	UTSW	5	9570047	missense	probably damaging	0.98
R5060:Grm3	UTSW	5	9570167	missense	probably damaging	0.99
R5093:Grm3	UTSW	5	9589766	missense	probably benign	0.01
R5419:Grm3	UTSW	5	9570233	missense	probably damaging	1.00
R5525:Grm3	UTSW	5	9504872	missense	probably damaging	1.00
R5642:Grm3	UTSW	5	9570536	missense	probably benign	0.21
R5804:Grm3	UTSW	5	9570155	missense	probably benign	0.33
R5915:Grm3	UTSW	5	9511927	missense	probably damaging	1.00
R5966:Grm3	UTSW	5	9511930	missense	probably damaging	0.98
R6151:Grm3	UTSW	5	9511556	missense	probably damaging	1.00
R6419:Grm3	UTSW	5	9570201	missense	probably damaging	1.00
R7267:Grm3	UTSW	5	9589581	missense	probably benign	0.00
R7657:Grm3	UTSW	5	9511452	splice site	probably null
R7925:Grm3	UTSW	5	9589880	missense	probably benign	0.09
R8032:Grm3	UTSW	5	9512272	missense	probably benign	0.11
R8227:Grm3	UTSW	5	9570242	missense	possibly damaging	0.65
R8462:Grm3	UTSW	5	9512365	missense	probably benign
R8500:Grm3	UTSW	5	9511726	missense	probably benign	0.21
R8696:Grm3	UTSW	5	9512311	missense	probably damaging	1.00
R8807:Grm3	UTSW	5	9511499	missense	probably damaging	1.00
R8828:Grm3	UTSW	5	9504725	missense	probably benign	0.00
R8876:Grm3	UTSW	5	9511580	missense	probably damaging	1.00
R8896:Grm3	UTSW	5	9512483	missense	possibly damaging	0.91
R9035:Grm3	UTSW	5	9570464	missense	probably damaging	0.99
X0020:Grm3	UTSW	5	9512195	missense	probably damaging	1.00
X0025:Grm3	UTSW	5	9485790	missense	probably damaging	1.00
X0026:Grm3	UTSW	5	9512238	nonsense	probably null
Z1088:Grm3	UTSW	5	9570183	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATGAGCCCTCCTTTTGTGTG -3'
(R):5'- TAACCCCTGGTTCCGAGACTTC -3'

Sequencing Primer
(F):5'- GTGGCTCTAAACTTCTAAAGCAAGG -3'
(R):5'- TTCTGGGAGCAGAAGTTCCAG -3'

Posted On

2019-10-17