Mutagenetix > Incidental Mutation

Incidental Mutation 'R9594:Grm2'

723169

Institutional Source

Beutler Lab

Gene Symbol

Grm2

Ensembl Gene

ENSMUSG00000023192

Gene Name

glutamate receptor, metabotropic 2

Synonyms

mGluR2, Gprc1b, 4930441L02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.466) question?

Stock #

R9594 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106521733-106533308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106524408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 298 (T298I)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023959] [ENSMUST00000201681]

AlphaFold

Q14BI2

Predicted Effect

probably damaging
Transcript: ENSMUST00000023959
AA Change: T769I

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

SMART Domains

Protein: ENSMUSP00000023959
Gene: ENSMUSG00000023192
AA Change: T769I

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	60	460	1.3e-96	PFAM
Pfam:NCD3G	496	546	3.7e-13	PFAM
Pfam:7tm_3	579	816	4.3e-63	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000200826
AA Change: T298I

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201681
AA Change: T491I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144631
Gene: ENSMUSG00000023192
AA Change: T491I

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	60	460	4.1e-95	PFAM
Pfam:7tm_3	458	538	4.6e-18	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]
PHENOTYPE: Mice homozygous for disruptions in this gene display subtile behavioral modifications and moderate abnormalities in long term depression and EPSP in the hippocampus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aida	T	C	1: 183,095,012 (GRCm39)	V151A	possibly damaging	Het
Akap3	T	C	6: 126,842,377 (GRCm39)	V332A	probably damaging	Het
Apobec3	T	A	15: 79,790,653 (GRCm39)	W332R		Het
Atf6	A	G	1: 170,668,402 (GRCm39)	V166A	probably benign	Het
Bcl6b	A	G	11: 70,118,858 (GRCm39)		probably null	Het
Brd3	G	T	2: 27,340,373 (GRCm39)	P612Q	probably damaging	Het
Btg1	T	A	10: 96,453,263 (GRCm39)	L26H	probably damaging	Het
Btg4	A	G	9: 51,030,560 (GRCm39)	D220G	probably damaging	Het
Cd209e	T	C	8: 3,901,183 (GRCm39)	D157G	probably benign	Het
Cdhr18	A	T	14: 13,814,959 (GRCm38)	L858Q	unknown	Het
Cimip2b	T	G	4: 43,427,329 (GRCm39)	T332P	unknown	Het
Dnah10	T	C	5: 124,907,107 (GRCm39)	L4269P	probably damaging	Het
Dync1li2	C	A	8: 105,154,752 (GRCm39)	K285N	possibly damaging	Het
Ehmt2	C	A	17: 35,118,740 (GRCm39)	Q198K	possibly damaging	Het
Foxn3	C	A	12: 99,359,294 (GRCm39)		probably benign	Het
Fstl4	C	T	11: 52,664,694 (GRCm39)	P8L	probably benign	Het
G6pc1	T	C	11: 101,258,660 (GRCm39)	I13T	possibly damaging	Het
Ghrhr	A	G	6: 55,362,470 (GRCm39)	I356V	probably benign	Het
Gm14410	A	T	2: 176,885,773 (GRCm39)	C164S	probably damaging	Het
Gpcpd1	A	T	2: 132,388,848 (GRCm39)	M308K	possibly damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 151,578,627 (GRCm39)		probably null	Het
Gpr179	T	C	11: 97,225,727 (GRCm39)	K2143E	probably benign	Het
H2-T24	A	T	17: 36,326,455 (GRCm39)	L148Q	probably damaging	Het
Hcn2	C	T	10: 79,560,559 (GRCm39)	R297C	probably damaging	Het
Hic1	T	C	11: 75,056,757 (GRCm39)	T711A	possibly damaging	Het
Ide	T	C	19: 37,264,514 (GRCm39)	D672G		Het
Impg1	A	G	9: 80,288,923 (GRCm39)	F378S	probably damaging	Het
Lipe	T	C	7: 25,098,128 (GRCm39)		probably benign	Het
Lmo7	A	G	14: 102,156,136 (GRCm39)	D1270G	probably null	Het
Mbnl1	A	T	3: 60,520,859 (GRCm39)	H149L	probably damaging	Het
Mmel1	T	C	4: 154,978,592 (GRCm39)	Y675H	probably benign	Het
Mrfap1	C	A	5: 36,953,807 (GRCm39)	R44L	probably damaging	Het
Nherf2	G	T	17: 24,868,922 (GRCm39)	T68K	probably damaging	Het
Notch2	A	G	3: 98,041,889 (GRCm39)	T1303A	possibly damaging	Het
Olfm3	A	G	3: 114,883,785 (GRCm39)	D62G	probably damaging	Het
Or10ak13	T	C	4: 118,638,952 (GRCm39)	I277V	probably benign	Het
Or2i1	C	G	17: 37,508,308 (GRCm39)	A109P	possibly damaging	Het
Or5g27	C	T	2: 85,409,882 (GRCm39)	Q100*	probably null	Het
Or5l13	T	C	2: 87,780,544 (GRCm39)	E11G	probably damaging	Het
Or5p59	T	G	7: 107,702,663 (GRCm39)	I49S	probably damaging	Het
Or6c8b	T	A	10: 128,882,354 (GRCm39)	I193F	probably benign	Het
Pcbd2	A	G	13: 55,880,849 (GRCm39)	Y68C	probably benign	Het
Phf3	G	C	1: 30,869,003 (GRCm39)	Q682E	probably benign	Het
Ptpn6	C	A	6: 124,704,728 (GRCm39)	R294L	probably benign	Het
Ptprz1	T	A	6: 23,025,026 (GRCm39)	V1754D	probably damaging	Het
Rab36	T	A	10: 74,887,873 (GRCm39)	I248K	probably damaging	Het
Rabac1	A	G	7: 24,671,579 (GRCm39)	Y114H	probably benign	Het
Rag1	A	G	2: 101,474,701 (GRCm39)	V147A	probably benign	Het
Rnf150	T	A	8: 83,717,144 (GRCm39)	V217D	probably damaging	Het
Scarf2	G	T	16: 17,620,473 (GRCm39)	C101F	probably damaging	Het
Sh3glb2	C	T	2: 30,236,672 (GRCm39)	R230Q	probably damaging	Het
Slc13a1	A	G	6: 24,089,100 (GRCm39)	V550A	probably damaging	Het
Sp140	A	G	1: 85,560,235 (GRCm39)	N289S	possibly damaging	Het
Spmip6	T	C	4: 41,505,091 (GRCm39)	E207G		Het
Stac3	T	A	10: 127,338,654 (GRCm39)	M1K	probably null	Het
Stk31	C	T	6: 49,424,221 (GRCm39)	T845I	possibly damaging	Het
Sufu	T	C	19: 46,385,674 (GRCm39)	Y45H	probably damaging	Het
Tg	T	A	15: 66,607,109 (GRCm39)	C1834*	probably null	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Tpcn1	T	C	5: 120,686,021 (GRCm39)	T427A	possibly damaging	Het
Trim45	A	G	3: 100,830,265 (GRCm39)	H13R	probably benign	Het
Trpv5	A	G	6: 41,647,773 (GRCm39)	F347L	probably benign	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Zfp236	G	T	18: 82,664,238 (GRCm39)	Q516K	probably damaging	Het

Other mutations in Grm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1053:Grm2	UTSW	9	106,525,356 (GRCm39)	missense	probably damaging	0.98
R1116:Grm2	UTSW	9	106,525,126 (GRCm39)	missense	probably damaging	0.97
R1593:Grm2	UTSW	9	106,528,113 (GRCm39)	missense	probably damaging	1.00
R1619:Grm2	UTSW	9	106,524,670 (GRCm39)	missense	probably damaging	1.00
R2174:Grm2	UTSW	9	106,524,994 (GRCm39)	missense	probably benign	0.05
R2357:Grm2	UTSW	9	106,524,780 (GRCm39)	missense	probably damaging	0.99
R3115:Grm2	UTSW	9	106,524,822 (GRCm39)	missense	probably damaging	0.97
R4453:Grm2	UTSW	9	106,531,078 (GRCm39)	missense	probably damaging	0.97
R4700:Grm2	UTSW	9	106,531,130 (GRCm39)	missense	probably benign	0.18
R4854:Grm2	UTSW	9	106,531,331 (GRCm39)	missense	possibly damaging	0.80
R4871:Grm2	UTSW	9	106,524,844 (GRCm39)	missense	probably benign	0.00
R4888:Grm2	UTSW	9	106,527,865 (GRCm39)	missense	probably damaging	0.98
R4999:Grm2	UTSW	9	106,531,189 (GRCm39)	missense	probably damaging	1.00
R5617:Grm2	UTSW	9	106,528,275 (GRCm39)	splice site	probably null
R5620:Grm2	UTSW	9	106,527,645 (GRCm39)	missense	probably damaging	0.96
R6021:Grm2	UTSW	9	106,527,999 (GRCm39)	missense	probably damaging	1.00
R6089:Grm2	UTSW	9	106,531,090 (GRCm39)	missense	probably damaging	1.00
R6662:Grm2	UTSW	9	106,525,252 (GRCm39)	missense	probably benign	0.01
R7061:Grm2	UTSW	9	106,528,424 (GRCm39)	missense	probably damaging	0.98
R7266:Grm2	UTSW	9	106,524,370 (GRCm39)	missense
R7270:Grm2	UTSW	9	106,528,257 (GRCm39)	missense	probably damaging	0.98
R7479:Grm2	UTSW	9	106,531,050 (GRCm39)	missense	possibly damaging	0.84
R7542:Grm2	UTSW	9	106,528,368 (GRCm39)	missense	probably damaging	0.98
R8960:Grm2	UTSW	9	106,531,345 (GRCm39)	missense	probably benign	0.06
R9028:Grm2	UTSW	9	106,528,384 (GRCm39)	missense	possibly damaging	0.86
R9150:Grm2	UTSW	9	106,524,657 (GRCm39)	missense
R9333:Grm2	UTSW	9	106,525,416 (GRCm39)	missense	possibly damaging	0.71
R9345:Grm2	UTSW	9	106,528,287 (GRCm39)	missense	probably damaging	0.98
R9520:Grm2	UTSW	9	106,525,230 (GRCm39)	missense
Z1177:Grm2	UTSW	9	106,522,264 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GTCCATTTGACTTCTTGGAGC -3'
(R):5'- AGCTGCTCATTGTTGCTGCC -3'

Sequencing Primer
(F):5'- GACTTCTTGGAGCTTTAGAGTTAACC -3'
(R):5'- CAAGGAGACAGCCCCTGAG -3'

Posted On

2022-08-09