Incidental Mutation 'R1053:Grm2'
ID 94127
Institutional Source Beutler Lab
Gene Symbol Grm2
Ensembl Gene ENSMUSG00000023192
Gene Name glutamate receptor, metabotropic 2
Synonyms mGluR2, Gprc1b, 4930441L02Rik
MMRRC Submission 039143-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.466) question?
Stock # R1053 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 106521733-106533308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 106525356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 453 (Y453S)
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: Y453S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023959
Gene: ENSMUSG00000023192
AA Change: Y453S

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000187786
Predicted Effect probably benign
Transcript: ENSMUST00000200826
Predicted Effect unknown
Transcript: ENSMUST00000201681
AA Change: Y453S
SMART Domains Protein: ENSMUSP00000144631
Gene: ENSMUSG00000023192
AA Change: Y453S

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 41,207,768 (GRCm39) N345Y probably benign Het
Ampd3 G A 7: 110,387,887 (GRCm39) G107S probably damaging Het
Bcas3 T A 11: 85,448,236 (GRCm39) I632N probably benign Het
Cald1 G T 6: 34,732,577 (GRCm39) R83L probably damaging Het
Cds2 T A 2: 132,147,180 (GRCm39) L420Q probably damaging Het
Col6a1 A T 10: 76,556,800 (GRCm39) Y266N probably damaging Het
Ctps1 A G 4: 120,400,919 (GRCm39) probably null Het
Enam A G 5: 88,651,878 (GRCm39) N1129S possibly damaging Het
Erc1 T C 6: 119,773,887 (GRCm39) E356G probably damaging Het
Fbxl4 T A 4: 22,427,166 (GRCm39) V469E probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Gm11568 A G 11: 99,748,887 (GRCm39) T31A unknown Het
Htt A G 5: 35,008,561 (GRCm39) probably null Het
Jakmip1 A G 5: 37,291,593 (GRCm39) I681V possibly damaging Het
Lair1 A G 7: 4,031,784 (GRCm39) S108P probably damaging Het
Lrp12 A C 15: 39,741,377 (GRCm39) F446C probably damaging Het
Ncoa6 C T 2: 155,275,960 (GRCm39) R95Q probably damaging Het
Nup210 T C 6: 91,005,793 (GRCm39) T614A probably benign Het
Or1b1 T C 2: 36,995,476 (GRCm39) Y62C probably damaging Het
Or52p2 A T 7: 102,237,166 (GRCm39) Y261* probably null Het
Or8b12 T C 9: 37,658,131 (GRCm39) S234P probably damaging Het
Ppp1r12a T C 10: 108,098,212 (GRCm39) S311P probably damaging Het
Rsph3a C A 17: 8,164,736 (GRCm39) P32Q probably benign Het
Sorl1 T C 9: 41,902,752 (GRCm39) T1602A probably benign Het
Svil C G 18: 5,056,690 (GRCm39) P521R probably benign Het
Vps13b A G 15: 35,652,509 (GRCm39) Y1580C probably damaging Het
Vwce T C 19: 10,641,463 (GRCm39) F730L probably benign Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zc2hc1c A G 12: 85,343,330 (GRCm39) D489G probably damaging Het
Other mutations in Grm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- AGAATGTAGCAAAGCTCCCGCC -3'
(R):5'- AGGTAGCCTCAGCTCTTAGTTCAGG -3'

Sequencing Primer
(F):5'- ATCCAGCCTGTACTCATAGGG -3'
(R):5'- AGTTCAGGTTCCTTCTGAAGGTG -3'
Posted On 2014-01-05