Mutagenetix > Incidental Mutation

Incidental Mutation 'R6021:Grm2'

478950

Institutional Source

Beutler Lab

Gene Symbol

Grm2

Ensembl Gene

ENSMUSG00000023192

Gene Name

glutamate receptor, metabotropic 2

Synonyms

mGluR2, Gprc1b, 4930441L02Rik

MMRRC Submission

044194-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.531) question?

Stock #

R6021 (G1)

Quality Score

220.009

Status

Validated

Chromosome

Chromosomal Location

106521733-106533308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106527999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 295 (D295G)

Ref Sequence

ENSEMBL: ENSMUSP00000023959 (fasta)

Gene Model

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

AlphaFold

Q14BI2

Predicted Effect

probably damaging
Transcript: ENSMUST00000023959
AA Change: D295G

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

SMART Domains

Protein: ENSMUSP00000023959
Gene: ENSMUSG00000023192
AA Change: D295G

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 benign
Transcript: ENSMUST00000200826

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201681
AA Change: D295G

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144631
Gene: ENSMUSG00000023192
AA Change: D295G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201955

Meta Mutation Damage Score

0.9351

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.2%

Validation Efficiency

94% (61/65)

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
4933427I04Rik	A	G	4: 123,754,509 (GRCm39)	D141G	possibly damaging	Het
A1bg	T	C	15: 60,791,713 (GRCm39)	E241G	possibly damaging	Het
Abca13	G	A	11: 9,240,465 (GRCm39)	W776*	probably null	Het
Akr1b10	T	A	6: 34,369,309 (GRCm39)		probably null	Het
Aopep	A	G	13: 63,208,896 (GRCm39)	T338A	probably damaging	Het
Atf7	T	C	15: 102,465,908 (GRCm39)	D84G	probably benign	Het
AW209491	C	T	13: 14,812,365 (GRCm39)	A406V	probably benign	Het
Azi2	T	A	9: 117,876,487 (GRCm39)	M1K	probably null	Het
Boc	T	A	16: 44,309,017 (GRCm39)	M832L	probably benign	Het
Brix1	C	T	15: 10,476,675 (GRCm39)	R267H	probably benign	Het
Cacna1s	T	C	1: 136,034,225 (GRCm39)	L1050P	probably benign	Het
Celsr2	G	T	3: 108,308,561 (GRCm39)	P1789T	probably benign	Het
Crebbp	G	A	16: 3,903,282 (GRCm39)	R1986C	probably damaging	Het
Crtam	T	A	9: 40,901,477 (GRCm39)	I150F	probably damaging	Het
Crybg1	G	T	10: 43,873,534 (GRCm39)	S1191R	probably damaging	Het
D630045J12Rik	T	C	6: 38,167,552 (GRCm39)	T1017A	probably benign	Het
Dnah10	A	G	5: 124,814,048 (GRCm39)	E396G	probably damaging	Het
Enpp5	A	T	17: 44,396,210 (GRCm39)	Y374F	probably benign	Het
Fzd4	G	A	7: 89,056,942 (GRCm39)	A330T	probably benign	Het
Gabra5	A	G	7: 57,157,740 (GRCm39)	S25P	probably benign	Het
Get1	T	C	16: 95,946,878 (GRCm39)		probably benign	Het
Ggps1	T	C	13: 14,228,589 (GRCm39)	Y198C	probably damaging	Het
Gm3173	A	C	14: 15,728,458 (GRCm39)	D39A	probably damaging	Het
H2-T13	T	G	17: 36,392,166 (GRCm39)	E182A	probably damaging	Het
Igfbp5	A	G	1: 72,902,363 (GRCm39)	M208T	possibly damaging	Het
Ildr2	T	A	1: 166,131,173 (GRCm39)	M343K	possibly damaging	Het
Kif19b	A	T	5: 140,455,434 (GRCm39)	M347L	probably damaging	Het
Loxhd1	A	T	18: 77,499,946 (GRCm39)	D120V	probably damaging	Het
Lrp1	T	C	10: 127,413,883 (GRCm39)	D1175G	probably damaging	Het
Lrp1b	C	A	2: 41,234,439 (GRCm39)	D1171Y	probably benign	Het
Lrrc9	A	T	12: 72,516,005 (GRCm39)	I563F	probably damaging	Het
Ltbp3	A	T	19: 5,803,708 (GRCm39)	T798S	probably benign	Het
Msantd4	T	A	9: 4,384,063 (GRCm39)	V128E	probably benign	Het
Mtf2	A	G	5: 108,229,003 (GRCm39)	I69V	possibly damaging	Het
Myh10	T	A	11: 68,699,688 (GRCm39)	S1712T	possibly damaging	Het
Mylk3	A	G	8: 86,091,442 (GRCm39)	V121A	possibly damaging	Het
Ndufaf4	A	G	4: 24,901,760 (GRCm39)	N100D	probably benign	Het
Notch2	T	C	3: 98,029,288 (GRCm39)	F1017S	probably damaging	Het
Or4a27	G	T	2: 88,559,294 (GRCm39)	Y216*	probably null	Het
Or4a80	A	C	2: 89,582,465 (GRCm39)	S236A	probably benign	Het
Or4c108	G	T	2: 88,803,376 (GRCm39)	Y286*	probably null	Het
P2ry2	T	C	7: 100,647,607 (GRCm39)	T233A	probably benign	Het
Paip1	T	"TTA,TT"	13: 119,593,671 (GRCm39)		probably null	Het
Pak1	T	C	7: 97,503,670 (GRCm39)	S2P	probably damaging	Het
Pde8b	A	T	13: 95,162,670 (GRCm39)	D817E	possibly damaging	Het
Pfdn2	C	A	1: 171,173,338 (GRCm39)		probably benign	Het
Pramel28	A	T	4: 143,692,336 (GRCm39)	C222S	probably benign	Het
Raver1	A	G	9: 20,987,918 (GRCm39)	L606P	probably damaging	Het
Robo3	C	T	9: 37,333,829 (GRCm39)	W668*	probably null	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Rxfp2	A	G	5: 149,987,202 (GRCm39)	N337S	possibly damaging	Het
Samhd1	T	C	2: 156,962,474 (GRCm39)		probably null	Het
Sardh	A	G	2: 27,079,655 (GRCm39)	V879A	probably benign	Het
Slc4a4	A	T	5: 89,188,261 (GRCm39)		probably benign	Het
Slc6a11	T	C	6: 114,207,012 (GRCm39)	L332P	probably damaging	Het
Tas2r135	T	C	6: 42,383,321 (GRCm39)	Y287H	probably damaging	Het
Tlr4	T	A	4: 66,759,103 (GRCm39)	I632N	probably damaging	Het
Tmem145	C	T	7: 25,008,270 (GRCm39)		probably null	Het
Trmt61a	C	A	12: 111,647,411 (GRCm39)	F169L	probably damaging	Het
Trp53tg5	T	A	2: 164,313,391 (GRCm39)	I95L	probably benign	Het
Vmn1r85	T	C	7: 12,818,616 (GRCm39)	E176G	probably benign	Het
Vmn2r75	T	C	7: 85,820,820 (GRCm39)	D38G	probably benign	Het
Vmn2r99	A	G	17: 19,598,210 (GRCm39)	Y78C	probably damaging	Het
Zfp964	G	T	8: 70,115,742 (GRCm39)	S114I	unknown	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
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
R9594:Grm2	UTSW	9	106,524,408 (GRCm39)	missense	probably damaging	1.00
Z1177:Grm2	UTSW	9	106,522,264 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TTTGACTCCTGTTCAAAGGGTAC -3'
(R):5'- AACATCTGCGTGGCCACTTC -3'

Sequencing Primer
(F):5'- GGAAGCTGCAACGGAACCTC -3'
(R):5'- TCGGAGAAGGTGGGCCG -3'

Posted On

2017-06-26