Incidental Mutation 'R3759:Grm4'
ID 270487
Institutional Source Beutler Lab
Gene Symbol Grm4
Ensembl Gene ENSMUSG00000063239
Gene Name glutamate receptor, metabotropic 4
Synonyms Gprc1d, mGluR4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3759 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 27641361-27732800 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 27654273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 559 (T559I)
Ref Sequence ENSEMBL: ENSMUSP00000156001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118161] [ENSMUST00000118489] [ENSMUST00000231290] [ENSMUST00000231416] [ENSMUST00000231809] [ENSMUST00000232243]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000118161
AA Change: T559I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000113819
Gene: ENSMUSG00000063239
AA Change: T559I

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:ANF_receptor 77 482 1.4e-110 PFAM
Pfam:Peripla_BP_6 144 486 9e-13 PFAM
Pfam:NCD3G 516 566 2.4e-14 PFAM
Pfam:7tm_3 599 844 7.6e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118489
AA Change: T559I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000112578
Gene: ENSMUSG00000063239
AA Change: T559I

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:ANF_receptor 77 482 6.2e-104 PFAM
Pfam:Peripla_BP_6 144 486 8.3e-12 PFAM
Pfam:NCD3G 516 566 5.4e-15 PFAM
Pfam:7tm_3 597 817 1.9e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231290
AA Change: T559I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000231416
AA Change: T304I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231804
Predicted Effect probably benign
Transcript: ENSMUST00000231809
AA Change: T512I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000232243
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
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, Feb 2012]
PHENOTYPE: Homozygous mutation of theis gene results in impaired motor learning, and reduced paired-pulse facilitation and post-tetanic potential. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Barx1 G C 13: 48,818,649 (GRCm39) R124P probably damaging Het
Capn13 T A 17: 73,629,072 (GRCm39) R578S probably benign Het
Ct45a C T X: 55,590,568 (GRCm39) V78I probably benign Het
Erc2 A G 14: 27,747,120 (GRCm39) Q684R possibly damaging Het
Heatr5b G T 17: 79,131,969 (GRCm39) A378D possibly damaging Het
Ppfia1 A G 7: 144,069,739 (GRCm39) V398A probably benign Het
Ppip5k2 C T 1: 97,683,610 (GRCm39) probably null Het
Pramel23 C A 4: 143,423,721 (GRCm39) C356F probably damaging Het
Rsf1 G GACGGCGGCA 7: 97,229,116 (GRCm39) probably benign Het
Tbc1d8 T C 1: 39,415,546 (GRCm39) N913S probably damaging Het
Other mutations in Grm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Grm4 APN 17 27,653,711 (GRCm39) nonsense probably null
IGL02380:Grm4 APN 17 27,653,635 (GRCm39) missense probably damaging 1.00
IGL03244:Grm4 APN 17 27,653,797 (GRCm39) missense probably damaging 0.99
R0013:Grm4 UTSW 17 27,650,549 (GRCm39) missense probably benign 0.01
R0352:Grm4 UTSW 17 27,670,865 (GRCm39) splice site probably benign
R0599:Grm4 UTSW 17 27,650,464 (GRCm39) missense probably benign 0.39
R0616:Grm4 UTSW 17 27,653,538 (GRCm39) missense probably damaging 1.00
R0645:Grm4 UTSW 17 27,654,183 (GRCm39) missense probably damaging 1.00
R0726:Grm4 UTSW 17 27,657,412 (GRCm39) splice site probably benign
R1085:Grm4 UTSW 17 27,692,007 (GRCm39) missense probably damaging 1.00
R1486:Grm4 UTSW 17 27,653,691 (GRCm39) missense probably damaging 1.00
R1535:Grm4 UTSW 17 27,653,775 (GRCm39) missense probably benign 0.01
R1799:Grm4 UTSW 17 27,691,914 (GRCm39) missense probably damaging 0.99
R1914:Grm4 UTSW 17 27,653,686 (GRCm39) missense probably damaging 0.99
R2472:Grm4 UTSW 17 27,653,649 (GRCm39) missense probably damaging 1.00
R4244:Grm4 UTSW 17 27,721,709 (GRCm39) missense probably damaging 1.00
R5390:Grm4 UTSW 17 27,653,712 (GRCm39) missense probably damaging 1.00
R5476:Grm4 UTSW 17 27,653,772 (GRCm39) missense probably benign 0.04
R5516:Grm4 UTSW 17 27,657,385 (GRCm39) missense probably benign 0.06
R5897:Grm4 UTSW 17 27,654,137 (GRCm39) missense probably benign 0.02
R5956:Grm4 UTSW 17 27,654,129 (GRCm39) missense probably benign 0.01
R6391:Grm4 UTSW 17 27,654,294 (GRCm39) missense probably benign 0.00
R7330:Grm4 UTSW 17 27,653,798 (GRCm39) nonsense probably null
R7449:Grm4 UTSW 17 27,654,345 (GRCm39) missense probably damaging 1.00
R8338:Grm4 UTSW 17 27,653,977 (GRCm39) missense probably damaging 1.00
R8734:Grm4 UTSW 17 27,657,765 (GRCm39) missense probably damaging 1.00
R8899:Grm4 UTSW 17 27,653,754 (GRCm39) missense probably damaging 1.00
R9157:Grm4 UTSW 17 27,653,956 (GRCm39) missense probably benign 0.21
R9203:Grm4 UTSW 17 27,653,980 (GRCm39) missense probably benign 0.04
R9267:Grm4 UTSW 17 27,654,183 (GRCm39) missense possibly damaging 0.86
R9292:Grm4 UTSW 17 27,692,037 (GRCm39) missense probably damaging 1.00
R9344:Grm4 UTSW 17 27,653,737 (GRCm39) missense probably benign 0.09
R9578:Grm4 UTSW 17 27,669,183 (GRCm39) missense possibly damaging 0.56
R9746:Grm4 UTSW 17 27,657,765 (GRCm39) missense probably damaging 1.00
R9762:Grm4 UTSW 17 27,721,688 (GRCm39) missense probably damaging 1.00
Z1177:Grm4 UTSW 17 27,669,195 (GRCm39) missense probably benign 0.12
Z1177:Grm4 UTSW 17 27,669,168 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TAGCAGAGAAAGATGCCCGC -3'
(R):5'- TCATTGGCAGATAGAGCGG -3'

Sequencing Primer
(F):5'- CCTTGACGATCGGAGTGTC -3'
(R):5'- TAGAGCGGATGCAGTGGCC -3'
Posted On 2015-03-18