Incidental Mutation 'R4700:Grm2'
ID 355934
Institutional Source Beutler Lab
Gene Symbol Grm2
Ensembl Gene ENSMUSG00000023192
Gene Name glutamate receptor, metabotropic 2
Synonyms mGluR2, Gprc1b, 4930441L02Rik
MMRRC Submission 041948-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.466) question?
Stock # R4700 (G1)
Quality Score 182
Status Validated
Chromosome 9
Chromosomal Location 106521733-106533308 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106531130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 120 (I120F)
Ref Sequence ENSEMBL: ENSMUSP00000023959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023959] [ENSMUST00000046735] [ENSMUST00000163441] [ENSMUST00000169068] [ENSMUST00000201681]
AlphaFold Q14BI2
Predicted Effect probably benign
Transcript: ENSMUST00000023959
AA Change: I120F

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000023959
Gene: ENSMUSG00000023192
AA Change: I120F

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 probably benign
Transcript: ENSMUST00000046735
SMART Domains Protein: ENSMUSP00000044654
Gene: ENSMUSG00000040813

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000201681
AA Change: I120F
SMART Domains Protein: ENSMUSP00000144631
Gene: ENSMUSG00000023192
AA Change: I120F

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
Meta Mutation Damage Score 0.0648 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (127/131)
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik A G 13: 31,742,795 (GRCm39) probably benign Het
Abca13 A G 11: 9,242,306 (GRCm39) T1390A possibly damaging Het
Abca14 T A 7: 119,911,928 (GRCm39) probably null Het
Abca8a A C 11: 109,961,308 (GRCm39) V538G probably damaging Het
Acy1 C T 9: 106,310,782 (GRCm39) G329R probably benign Het
Adamts17 T C 7: 66,691,636 (GRCm39) C607R probably damaging Het
Adamts20 A T 15: 94,292,503 (GRCm39) C202* probably null Het
Adcy5 A G 16: 35,099,586 (GRCm39) N712S possibly damaging Het
Ahnak A G 19: 8,982,045 (GRCm39) K1110E probably benign Het
Anks6 T A 4: 47,033,127 (GRCm39) H578L possibly damaging Het
Appl1 C A 14: 26,647,928 (GRCm39) L626F probably benign Het
Arl1 A G 10: 88,566,499 (GRCm39) probably benign Het
Atf4 T A 15: 80,141,618 (GRCm39) I336K probably damaging Het
Atp7b A T 8: 22,490,137 (GRCm39) S1044T probably benign Het
Carm1 A G 9: 21,498,480 (GRCm39) N466S probably benign Het
Cbl A G 9: 44,084,677 (GRCm39) S153P probably damaging Het
Ccdc159 A G 9: 21,839,027 (GRCm39) probably null Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdc7 T C 5: 107,121,707 (GRCm39) F207L probably benign Het
Celsr2 T C 3: 108,304,547 (GRCm39) R2271G probably benign Het
Cep162 T C 9: 87,088,915 (GRCm39) Q989R probably damaging Het
Cep89 A G 7: 35,137,862 (GRCm39) T749A probably benign Het
Clcn5 T C X: 7,032,591 (GRCm39) probably null Het
Clu A T 14: 66,217,313 (GRCm39) Y382F probably benign Het
Cnih4 A G 1: 180,993,808 (GRCm39) probably benign Het
Crb1 A G 1: 139,126,509 (GRCm39) L1340P probably damaging Het
Ddx4 T C 13: 112,750,269 (GRCm39) T421A probably damaging Het
Dennd5a T C 7: 109,520,405 (GRCm39) E484G probably benign Het
Dsg4 G T 18: 20,589,965 (GRCm39) V372L possibly damaging Het
Dyrk2 T C 10: 118,704,191 (GRCm39) D21G probably benign Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Epb41l4a A T 18: 33,935,560 (GRCm39) probably null Het
F10 G T 8: 13,089,621 (GRCm39) V67F possibly damaging Het
Fat3 A G 9: 15,942,469 (GRCm39) I1301T probably damaging Het
Filip1l A G 16: 57,391,058 (GRCm39) T549A probably benign Het
Flt4 C A 11: 49,517,271 (GRCm39) probably benign Het
Fndc1 G A 17: 7,990,312 (GRCm39) T1128I unknown Het
Fos T C 12: 85,522,936 (GRCm39) S283P probably benign Het
Fryl T C 5: 73,222,881 (GRCm39) Y1900C possibly damaging Het
Fsip2 C A 2: 82,817,373 (GRCm39) Q4369K probably benign Het
Gad2 A T 2: 22,563,982 (GRCm39) H395L probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Igsf10 A T 3: 59,227,751 (GRCm39) I1974N probably damaging Het
Il23r T C 6: 67,450,834 (GRCm39) N215S probably damaging Het
Jph1 T A 1: 17,161,928 (GRCm39) M245L possibly damaging Het
Loxl4 G A 19: 42,596,052 (GRCm39) H147Y probably benign Het
Lsg1 A G 16: 30,384,267 (GRCm39) I521T probably damaging Het
Ltc4s C T 11: 50,127,908 (GRCm39) G83R probably damaging Het
Map2 A G 1: 66,449,796 (GRCm39) E173G probably damaging Het
Med29 T A 7: 28,086,352 (GRCm39) D152V possibly damaging Het
Megf8 A G 7: 25,062,940 (GRCm39) D2432G probably damaging Het
Mrpl38 G A 11: 116,025,978 (GRCm39) probably benign Het
Myh7 A G 14: 55,225,778 (GRCm39) I521T possibly damaging Het
Mylk G T 16: 34,742,805 (GRCm39) V1106L probably benign Het
Myo15b A T 11: 115,752,761 (GRCm39) D753V possibly damaging Het
Myo1g T C 11: 6,466,785 (GRCm39) probably null Het
Myrfl A G 10: 116,613,247 (GRCm39) probably null Het
Naip5 A G 13: 100,359,922 (GRCm39) V438A possibly damaging Het
Nav3 A G 10: 109,600,796 (GRCm39) V1277A probably benign Het
Nek10 T A 14: 14,842,841 (GRCm38) V182E possibly damaging Het
Ngly1 T C 14: 16,281,809 (GRCm38) V355A probably benign Het
Nol6 T C 4: 41,118,944 (GRCm39) E683G possibly damaging Het
Obsl1 A T 1: 75,480,085 (GRCm39) V487E probably damaging Het
Oc90 T A 15: 65,753,354 (GRCm39) R322W possibly damaging Het
Or1q1 C A 2: 36,887,515 (GRCm39) A231D probably benign Het
Or4f60 A G 2: 111,902,097 (GRCm39) V277A possibly damaging Het
Or52e4 A T 7: 104,705,483 (GRCm39) H10L possibly damaging Het
Or8b4 A G 9: 37,830,217 (GRCm39) E93G possibly damaging Het
Osbp2 T C 11: 3,662,160 (GRCm39) H231R probably damaging Het
Pate6 A T 9: 35,701,021 (GRCm39) C22S probably damaging Het
Pdzph1 T C 17: 59,281,541 (GRCm39) H247R probably damaging Het
Pidd1 T C 7: 141,022,162 (GRCm39) N209S probably damaging Het
Pknox1 C T 17: 31,822,286 (GRCm39) A351V probably damaging Het
Plxnd1 C A 6: 115,935,576 (GRCm39) V1737F probably damaging Het
Prkdc A T 16: 15,519,976 (GRCm39) K1138M probably damaging Het
Rad54l2 T C 9: 106,631,224 (GRCm39) D21G possibly damaging Het
Recql4 C T 15: 76,592,785 (GRCm39) C302Y probably damaging Het
Scgb2b6 T C 7: 31,318,908 (GRCm39) noncoding transcript Het
Sdc1 A G 12: 8,840,541 (GRCm39) E106G possibly damaging Het
Slc10a5 T G 3: 10,400,360 (GRCm39) Q100P probably damaging Het
Slc10a5 C A 3: 10,400,359 (GRCm39) Q100H probably damaging Het
Slc5a9 A T 4: 111,748,134 (GRCm39) L226Q possibly damaging Het
Slfn1 T C 11: 83,012,475 (GRCm39) V197A probably benign Het
Spire1 T C 18: 67,645,935 (GRCm39) M244V probably benign Het
St3gal3 C T 4: 117,817,232 (GRCm39) V141I probably benign Het
St6galnac4 G T 2: 32,477,172 (GRCm39) probably benign Het
Svep1 T C 4: 58,097,323 (GRCm39) K1407E possibly damaging Het
Tbc1d32 A G 10: 56,100,745 (GRCm39) C78R probably damaging Het
Tcstv5 T C 13: 120,411,378 (GRCm39) Y76C probably benign Het
Tln2 A G 9: 67,253,809 (GRCm39) V754A probably benign Het
Tmeff1 A T 4: 48,636,869 (GRCm39) Y189F possibly damaging Het
Tmem131l C T 3: 83,806,519 (GRCm39) A1433T probably benign Het
Tnfrsf8 T C 4: 145,029,692 (GRCm39) Y36C probably damaging Het
Trp53i11 G T 2: 93,030,245 (GRCm39) R184L probably damaging Het
Trpv1 A T 11: 73,142,110 (GRCm39) M214L possibly damaging Het
Tsnax T A 8: 125,755,533 (GRCm39) S132T probably benign Het
Ttc28 T C 5: 111,424,909 (GRCm39) L1547P probably damaging Het
Ttc3 A G 16: 94,240,100 (GRCm39) probably null Het
Tubal3 T A 13: 3,983,514 (GRCm39) D431E probably damaging Het
Ugt2b36 A T 5: 87,240,301 (GRCm39) probably null Het
Vmn1r23 A T 6: 57,903,190 (GRCm39) I196K probably benign Het
Vmn1r55 A C 7: 5,149,586 (GRCm39) L279R probably damaging Het
Vmn1r55 G T 7: 5,149,587 (GRCm39) L279M probably damaging Het
Vmn2r89 G A 14: 51,694,942 (GRCm39) G474E probably damaging Het
Vps26b T C 9: 26,926,511 (GRCm39) K163E probably damaging Het
Zfp142 A G 1: 74,609,431 (GRCm39) F1352L probably damaging Het
Zfp422 C T 6: 116,603,844 (GRCm39) E52K possibly damaging Het
Zfp423 T A 8: 88,508,338 (GRCm39) probably null Het
Zfp493 T C 13: 67,934,736 (GRCm39) F230L probably damaging Het
Zfp760 T C 17: 21,941,388 (GRCm39) C188R probably benign Het
Zfyve28 G T 5: 34,375,189 (GRCm39) T275K probably damaging Het
Znhit3 T C 11: 84,807,155 (GRCm39) N5D probably benign Het
Other mutations in Grm2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GATGCACCCTTTTCGATGCAC -3'
(R):5'- AATGAGCACCGTGGCATACAG -3'

Sequencing Primer
(F):5'- TTCGATGCACCTGTCCTGGAAG -3'
(R):5'- GGCATACAGCGCCTAGAG -3'
Posted On 2015-10-21