Mutagenetix > Incidental Mutation

Incidental Mutation 'R7479:Grm2'

579681

Institutional Source

Beutler Lab

Gene Symbol

Grm2

Ensembl Gene

ENSMUSG00000023192

Gene Name

glutamate receptor, metabotropic 2

Synonyms

mGluR2, Gprc1b, 4930441L02Rik

MMRRC Submission

045553-MU

Accession Numbers

Essential gene?

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

Stock #

R7479 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106521733-106533308 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106531050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 146 (D146E)

Ref Sequence

ENSEMBL: ENSMUSP00000144631 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023959] [ENSMUST00000046735] [ENSMUST00000163441] [ENSMUST00000169068] [ENSMUST00000201681]

AlphaFold

Q14BI2

Predicted Effect

probably benign
Transcript: ENSMUST00000023959
AA Change: D146E

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023959
Gene: ENSMUSG00000023192
AA Change: D146E

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: ENSMUST00000046735

SMART Domains

Protein: ENSMUSP00000044654
Gene: ENSMUSG00000040813

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:GyrI-like	41	185	1e-12	PFAM
low complexity region	208	225	N/A	INTRINSIC
low complexity region	258	291	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163441

SMART Domains

Protein: ENSMUSP00000132247
Gene: ENSMUSG00000040813

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
SCOP:d1jyha_	46	133	7e-3	SMART
low complexity region	208	225	N/A	INTRINSIC
low complexity region	258	291	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169068

SMART Domains

Protein: ENSMUSP00000133194
Gene: ENSMUSG00000040813

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:GyrI-like	41	176	4.2e-11	PFAM
low complexity region	220	253	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000201681
AA Change: D146E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000144631
Gene: ENSMUSG00000023192
AA Change: D146E

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: 99.5%
20x: 98.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,372,142 (GRCm39)	M81L	probably benign	Het
Ano9	T	C	7: 140,682,348 (GRCm39)	T667A	probably damaging	Het
Anpep	T	A	7: 79,485,118 (GRCm39)	I623F	probably benign	Het
Apba2	T	C	7: 64,389,607 (GRCm39)	I501T	possibly damaging	Het
Ascc3	T	A	10: 50,525,895 (GRCm39)	Y536N	probably damaging	Het
B4galt1	T	C	4: 40,823,587 (GRCm39)	Y168C	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C2	A	G	17: 35,082,441 (GRCm39)	C647R	probably damaging	Het
Cnot4	G	A	6: 35,001,083 (GRCm39)	T604I	probably benign	Het
Col11a1	C	T	3: 113,896,218 (GRCm39)	T506I	unknown	Het
Cr2	A	C	1: 194,840,718 (GRCm39)		probably null	Het
Ctsm	A	T	13: 61,685,569 (GRCm39)	V281D	probably damaging	Het
Cyp2c69	T	C	19: 39,870,001 (GRCm39)	I74V	probably benign	Het
Dennd4c	T	A	4: 86,717,590 (GRCm39)	V529D	probably damaging	Het
Dlgap3	C	A	4: 127,088,418 (GRCm39)	H5N	possibly damaging	Het
Dusp10	C	A	1: 183,769,617 (GRCm39)	H194Q	probably damaging	Het
Eln	C	G	5: 134,736,429 (GRCm39)	G753A	unknown	Het
Emb	T	A	13: 117,385,962 (GRCm39)	N118K	possibly damaging	Het
Fam184a	C	T	10: 53,531,110 (GRCm39)	V755I	probably benign	Het
Fryl	A	G	5: 73,254,904 (GRCm39)	I846T	possibly damaging	Het
Gabbr2	T	A	4: 46,681,166 (GRCm39)	I722F	probably damaging	Het
Gabrb3	T	A	7: 57,474,171 (GRCm39)	D362E	possibly damaging	Het
Galnt2	G	A	8: 125,061,077 (GRCm39)	G357D	probably damaging	Het
Gbx2	A	T	1: 89,858,373 (GRCm39)	S35R	probably benign	Het
Glg1	A	G	8: 111,924,367 (GRCm39)	I207T	possibly damaging	Het
Gm10192	A	T	4: 97,071,272 (GRCm39)	N44K	unknown	Het
Gpd1	A	G	15: 99,617,984 (GRCm39)	D123G	probably benign	Het
Gsg1l2	A	G	11: 67,676,032 (GRCm39)	D132G	probably benign	Het
Hecw1	C	T	13: 14,515,425 (GRCm39)	G236R	probably damaging	Het
Hif3a	G	A	7: 16,776,560 (GRCm39)	T462I	possibly damaging	Het
Hspg2	C	T	4: 137,266,714 (GRCm39)	A1934V	probably benign	Het
Il7r	C	T	15: 9,513,117 (GRCm39)	A131T	probably damaging	Het
Itga6	C	T	2: 71,668,680 (GRCm39)	R540*	probably null	Het
Kcnh2	A	G	5: 24,530,490 (GRCm39)		probably null	Het
Kcnq4	C	T	4: 120,573,022 (GRCm39)	A260T	probably damaging	Het
Lrp1b	T	C	2: 40,691,517 (GRCm39)	N3434S		Het
Lrrc41	C	T	4: 115,946,238 (GRCm39)	P318S	probably damaging	Het
Map4	G	A	9: 109,897,892 (GRCm39)	G873R	possibly damaging	Het
Med24	A	G	11: 98,595,787 (GRCm39)	I968T	possibly damaging	Het
Mfap5	T	C	6: 122,503,821 (GRCm39)		probably null	Het
Mtcl1	A	G	17: 66,686,485 (GRCm39)	V807A	probably benign	Het
Mug1	T	A	6: 121,855,467 (GRCm39)	S934T	possibly damaging	Het
Nckap5l	C	A	15: 99,321,127 (GRCm39)	V1218F	probably damaging	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Nkx2-4	T	C	2: 146,926,088 (GRCm39)	E258G	probably benign	Het
Polr1a	T	A	6: 71,913,281 (GRCm39)	V545E	probably damaging	Het
Ppp1r9b	A	G	11: 94,882,858 (GRCm39)	D162G	possibly damaging	Het
Rhot2	A	G	17: 26,059,723 (GRCm39)	L367P	probably damaging	Het
Ripk2	A	G	4: 16,155,154 (GRCm39)	F122L	probably benign	Het
Scn11a	T	C	9: 119,588,941 (GRCm39)	T1322A	probably benign	Het
Scn8a	T	A	15: 100,853,358 (GRCm39)	L115Q	probably damaging	Het
Sel1l3	G	T	5: 53,274,462 (GRCm39)	P1006Q	probably damaging	Het
Septin11	A	T	5: 93,304,804 (GRCm39)	N207I	probably damaging	Het
Sez6l2	C	T	7: 126,562,831 (GRCm39)	T669I	probably damaging	Het
Sfxn4	T	A	19: 60,847,112 (GRCm39)	D57V	possibly damaging	Het
Smarca2	T	A	19: 26,617,887 (GRCm39)	V306D	probably benign	Het
Srgap3	C	T	6: 112,712,794 (GRCm39)		probably null	Het
Tas2r134	T	C	2: 51,517,541 (GRCm39)	F7L	not run	Het
Tbcd	T	C	11: 121,383,431 (GRCm39)		probably null	Het
Tcn2	G	A	11: 3,867,703 (GRCm39)	A413V	probably damaging	Het
Tdp1	T	C	12: 99,857,654 (GRCm39)	V71A	probably benign	Het
Tjp1	T	C	7: 64,950,928 (GRCm39)	T1649A	probably damaging	Het
Tnc	T	C	4: 63,935,865 (GRCm39)	E357G	possibly damaging	Het
Tnrc6b	A	G	15: 80,773,327 (GRCm39)	T1158A	probably benign	Het
Ttn	C	A	2: 76,568,952 (GRCm39)	E27314*	probably null	Het
Vps35	G	T	8: 85,997,434 (GRCm39)	T512K	probably benign	Het
Zfp40	A	T	17: 23,396,292 (GRCm39)	S98R	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp945	A	T	17: 23,070,340 (GRCm39)	C541S	possibly damaging	Het
Zfp976	T	A	7: 42,262,603 (GRCm39)	E412D	probably benign	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
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'- TATGGCCAGGGAACTTTCTG -3'
(R):5'- TTGCACTGGACCGCATCAAC -3'

Sequencing Primer
(F):5'- AGGGAACTTTCTGGCCATC -3'
(R):5'- CGCACATCCTCGACAGCTG -3'

Posted On

2019-10-07