Mutagenetix > Incidental Mutation

Incidental Mutation 'R4083:Grm3'

316974

Institutional Source

Beutler Lab

Gene Symbol

Grm3

Ensembl Gene

ENSMUSG00000003974

Gene Name

glutamate receptor, metabotropic 3

Synonyms

mGluR3, mGlu3, 0710001G23Rik, Gprc1c

MMRRC Submission

040978-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4083 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

9535541-9775170 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 9562054 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 599 (I599L)

Ref Sequence

ENSEMBL: ENSMUSP00000004076 (fasta)

Gene Model

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

AlphaFold

Q9QYS2

Predicted Effect

probably benign
Transcript: ENSMUST00000004076
AA Change: I599L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000004076
Gene: ENSMUSG00000003974
AA Change: I599L

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

Meta Mutation Damage Score

0.0902

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

97% (31/32)

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asah2	A	G	19: 31,964,184 (GRCm39)	S749P	probably benign	Het
Ccdc159	T	C	9: 21,840,699 (GRCm39)	S89P	possibly damaging	Het
Cnbd1	A	T	4: 18,886,042 (GRCm39)	S326T	possibly damaging	Het
Dpy19l1	G	A	9: 24,396,344 (GRCm39)	T124M	possibly damaging	Het
Fmod	A	T	1: 133,968,043 (GRCm39)	I28F	probably benign	Het
Gm8674	A	T	13: 50,055,047 (GRCm39)		noncoding transcript	Het
Hgf	G	T	5: 16,820,856 (GRCm39)	G668*	probably null	Het
Hsd17b11	A	T	5: 104,138,434 (GRCm39)	V280D	possibly damaging	Het
Igkv8-26	G	T	6: 70,170,547 (GRCm39)	S46I	probably damaging	Het
Kdm7a	T	C	6: 39,129,748 (GRCm39)	E476G	probably damaging	Het
Lgals9	A	T	11: 78,860,589 (GRCm39)	F162Y	possibly damaging	Het
Lig3	T	A	11: 82,681,320 (GRCm39)	N437K	probably benign	Het
Mterf4	A	C	1: 93,232,380 (GRCm39)	M157R	possibly damaging	Het
Nbas	T	C	12: 13,524,192 (GRCm39)	W1683R	probably damaging	Het
Nmur2	G	C	11: 55,931,051 (GRCm39)	P220R	probably damaging	Het
Or14j10	T	G	17: 37,935,316 (GRCm39)	D70A	probably damaging	Het
Or2ag2	G	T	7: 106,485,851 (GRCm39)	P58T	probably damaging	Het
Pcdh10	A	C	3: 45,347,142 (GRCm39)	D979A	probably damaging	Het
Prb1b	G	A	6: 132,289,657 (GRCm39)	P56S	unknown	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rab27a	G	T	9: 72,989,721 (GRCm39)	R64L	probably damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Slc22a16	T	A	10: 40,450,065 (GRCm39)	L167Q	probably damaging	Het
Srgap1	A	G	10: 121,621,595 (GRCm39)	V989A	probably damaging	Het
Sstr2	T	C	11: 113,516,071 (GRCm39)	V330A	probably benign	Het
Tdrd1	T	C	19: 56,831,662 (GRCm39)	M351T	probably benign	Het
Trav7d-3	C	A	14: 52,982,212 (GRCm39)	H84Q	probably benign	Het

Other mutations in Grm3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Grm3	APN	5	9,562,290 (GRCm39)	missense	probably benign
IGL01393:Grm3	APN	5	9,639,856 (GRCm39)	missense	probably benign	0.00
IGL01398:Grm3	APN	5	9,535,762 (GRCm39)	unclassified	probably benign
IGL01825:Grm3	APN	5	9,561,600 (GRCm39)	missense	probably damaging	1.00
IGL01966:Grm3	APN	5	9,561,486 (GRCm39)	missense	probably damaging	0.98
IGL02367:Grm3	APN	5	9,561,660 (GRCm39)	missense	probably damaging	1.00
IGL02526:Grm3	APN	5	9,639,847 (GRCm39)	missense	probably damaging	1.00
IGL02972:Grm3	APN	5	9,562,410 (GRCm39)	missense	probably damaging	1.00
IGL03356:Grm3	APN	5	9,562,206 (GRCm39)	missense	possibly damaging	0.89
BB002:Grm3	UTSW	5	9,639,880 (GRCm39)	missense	probably benign	0.09
BB012:Grm3	UTSW	5	9,639,880 (GRCm39)	missense	probably benign	0.09
R0032:Grm3	UTSW	5	9,561,452 (GRCm39)	splice site	probably null
R0032:Grm3	UTSW	5	9,561,452 (GRCm39)	splice site	probably null
R0389:Grm3	UTSW	5	9,554,794 (GRCm39)	missense	probably damaging	1.00
R0455:Grm3	UTSW	5	9,562,477 (GRCm39)	missense	probably benign
R0538:Grm3	UTSW	5	9,562,446 (GRCm39)	missense	possibly damaging	0.95
R0553:Grm3	UTSW	5	9,620,048 (GRCm39)	missense	probably benign	0.16
R1124:Grm3	UTSW	5	9,620,297 (GRCm39)	missense	probably benign
R1163:Grm3	UTSW	5	9,620,738 (GRCm39)	missense	probably benign	0.34
R1440:Grm3	UTSW	5	9,639,958 (GRCm39)	missense	probably benign
R1635:Grm3	UTSW	5	9,561,520 (GRCm39)	missense	probably damaging	1.00
R1734:Grm3	UTSW	5	9,639,742 (GRCm39)	missense	probably benign	0.00
R1895:Grm3	UTSW	5	9,562,123 (GRCm39)	missense	probably damaging	1.00
R1926:Grm3	UTSW	5	9,554,881 (GRCm39)	missense	probably damaging	0.98
R1940:Grm3	UTSW	5	9,561,682 (GRCm39)	missense	probably damaging	1.00
R1946:Grm3	UTSW	5	9,562,123 (GRCm39)	missense	probably damaging	1.00
R2004:Grm3	UTSW	5	9,639,793 (GRCm39)	missense	possibly damaging	0.57
R2005:Grm3	UTSW	5	9,639,793 (GRCm39)	missense	possibly damaging	0.57
R2006:Grm3	UTSW	5	9,639,793 (GRCm39)	missense	possibly damaging	0.57
R3116:Grm3	UTSW	5	9,620,752 (GRCm39)	missense	probably damaging	1.00
R4537:Grm3	UTSW	5	9,562,083 (GRCm39)	missense	probably benign	0.02
R4855:Grm3	UTSW	5	9,620,047 (GRCm39)	missense	probably damaging	0.98
R5060:Grm3	UTSW	5	9,620,167 (GRCm39)	missense	probably damaging	0.99
R5093:Grm3	UTSW	5	9,639,766 (GRCm39)	missense	probably benign	0.01
R5419:Grm3	UTSW	5	9,620,233 (GRCm39)	missense	probably damaging	1.00
R5525:Grm3	UTSW	5	9,554,872 (GRCm39)	missense	probably damaging	1.00
R5642:Grm3	UTSW	5	9,620,536 (GRCm39)	missense	probably benign	0.21
R5804:Grm3	UTSW	5	9,620,155 (GRCm39)	missense	probably benign	0.33
R5915:Grm3	UTSW	5	9,561,927 (GRCm39)	missense	probably damaging	1.00
R5966:Grm3	UTSW	5	9,561,930 (GRCm39)	missense	probably damaging	0.98
R6151:Grm3	UTSW	5	9,561,556 (GRCm39)	missense	probably damaging	1.00
R6419:Grm3	UTSW	5	9,620,201 (GRCm39)	missense	probably damaging	1.00
R7267:Grm3	UTSW	5	9,639,581 (GRCm39)	missense	probably benign	0.00
R7555:Grm3	UTSW	5	9,620,000 (GRCm39)	missense	probably benign	0.00
R7657:Grm3	UTSW	5	9,561,452 (GRCm39)	splice site	probably null
R7925:Grm3	UTSW	5	9,639,880 (GRCm39)	missense	probably benign	0.09
R8032:Grm3	UTSW	5	9,562,272 (GRCm39)	missense	probably benign	0.11
R8227:Grm3	UTSW	5	9,620,242 (GRCm39)	missense	possibly damaging	0.65
R8462:Grm3	UTSW	5	9,562,365 (GRCm39)	missense	probably benign
R8500:Grm3	UTSW	5	9,561,726 (GRCm39)	missense	probably benign	0.21
R8696:Grm3	UTSW	5	9,562,311 (GRCm39)	missense	probably damaging	1.00
R8807:Grm3	UTSW	5	9,561,499 (GRCm39)	missense	probably damaging	1.00
R8828:Grm3	UTSW	5	9,554,725 (GRCm39)	missense	probably benign	0.00
R8876:Grm3	UTSW	5	9,561,580 (GRCm39)	missense	probably damaging	1.00
R8896:Grm3	UTSW	5	9,562,483 (GRCm39)	missense	possibly damaging	0.91
R9035:Grm3	UTSW	5	9,620,464 (GRCm39)	missense	probably damaging	0.99
R9779:Grm3	UTSW	5	9,561,656 (GRCm39)	missense	possibly damaging	0.74
X0020:Grm3	UTSW	5	9,562,195 (GRCm39)	missense	probably damaging	1.00
X0025:Grm3	UTSW	5	9,535,790 (GRCm39)	missense	probably damaging	1.00
X0026:Grm3	UTSW	5	9,562,238 (GRCm39)	nonsense	probably null
Z1088:Grm3	UTSW	5	9,620,183 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TTGACCCCATCAAAGATGCG -3'
(R):5'- TTGATGAGTTCACCTGCATGG -3'

Sequencing Primer
(F):5'- TGTCTTGGTCAGGAGAGCTGAATAAC -3'
(R):5'- CACCTGCATGGATTGTGGC -3'

Posted On

2015-05-15