Incidental Mutation 'R0645:Grm4'
ID 57097
Institutional Source Beutler Lab
Gene Symbol Grm4
Ensembl Gene ENSMUSG00000063239
Gene Name glutamate receptor, metabotropic 4
Synonyms Gprc1d, mGluR4
MMRRC Submission 038830-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0645 (G1)
Quality Score 175
Status Validated
Chromosome 17
Chromosomal Location 27641361-27732800 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27654183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 542 (V542E)
Ref Sequence ENSEMBL: ENSMUSP00000156352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118161] [ENSMUST00000118489] [ENSMUST00000231290] [ENSMUST00000231416] [ENSMUST00000231809] [ENSMUST00000232243]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000118161
AA Change: V589E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113819
Gene: ENSMUSG00000063239
AA Change: V589E

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 damaging
Transcript: ENSMUST00000118489
AA Change: V589E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112578
Gene: ENSMUSG00000063239
AA Change: V589E

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 damaging
Transcript: ENSMUST00000231290
AA Change: V589E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000231416
AA Change: V334E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231804
Predicted Effect probably damaging
Transcript: ENSMUST00000231809
AA Change: V542E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000232243
Meta Mutation Damage Score 0.9285 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 99% (94/95)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 G T 8: 25,162,136 (GRCm39) Y46* probably null Het
Adam26b A C 8: 43,973,524 (GRCm39) C493G probably damaging Het
Ak5 A T 3: 152,359,252 (GRCm39) L182Q probably damaging Het
Akt1s1 T C 7: 44,498,645 (GRCm39) probably benign Het
Amhr2 G T 15: 102,354,863 (GRCm39) G133C probably damaging Het
Btbd9 A T 17: 30,743,941 (GRCm39) L187Q probably damaging Het
Ccdc117 A T 11: 5,484,385 (GRCm39) probably benign Het
Ccdc138 A T 10: 58,411,542 (GRCm39) I637F probably damaging Het
Ccdc162 A G 10: 41,462,407 (GRCm39) probably benign Het
Cdc25b C A 2: 131,033,533 (GRCm39) H157Q probably benign Het
Cdon A G 9: 35,388,379 (GRCm39) probably null Het
Cdt1 G A 8: 123,298,884 (GRCm39) probably benign Het
Cep350 C T 1: 155,816,458 (GRCm39) probably null Het
Cfb T C 17: 35,078,992 (GRCm39) K831R probably benign Het
Cldn4 C A 5: 134,975,645 (GRCm39) probably benign Het
Cntnap5b T C 1: 99,999,767 (GRCm39) probably benign Het
Cyp27b1 T G 10: 126,884,967 (GRCm39) S77A probably benign Het
Dlc1 T C 8: 37,041,203 (GRCm39) D1342G possibly damaging Het
Dlgap4 A G 2: 156,603,799 (GRCm39) H887R probably damaging Het
Duox2 A G 2: 122,123,139 (GRCm39) I503T probably damaging Het
Eml4 T C 17: 83,770,922 (GRCm39) probably benign Het
Ermap A G 4: 119,042,888 (GRCm39) S212P probably benign Het
Esrrg T A 1: 187,775,538 (GRCm39) C22S probably benign Het
Evx2 T A 2: 74,488,238 (GRCm39) Y194F possibly damaging Het
Fbn2 T G 18: 58,191,461 (GRCm39) D1554A probably damaging Het
Flrt1 G A 19: 7,074,508 (GRCm39) probably benign Het
Fndc5 A G 4: 129,033,630 (GRCm39) probably benign Het
Frem1 A T 4: 82,907,403 (GRCm39) I837N probably damaging Het
Fzd10 G T 5: 128,679,662 (GRCm39) A461S possibly damaging Het
Ganab T A 19: 8,888,477 (GRCm39) Y511N probably damaging Het
Gbp7 A G 3: 142,243,926 (GRCm39) probably null Het
Gm5919 T A 9: 83,765,436 (GRCm39) C91S unknown Het
Gpr31b A T 17: 13,271,093 (GRCm39) C25* probably null Het
Grb10 A G 11: 11,886,755 (GRCm39) S505P probably damaging Het
Gsta5 T C 9: 78,206,303 (GRCm39) I75T possibly damaging Het
Hivep3 G A 4: 119,954,531 (GRCm39) R949H possibly damaging Het
Hycc1 C T 5: 24,184,506 (GRCm39) G242D probably damaging Het
Invs A T 4: 48,407,653 (GRCm39) M543L probably benign Het
Kcnk2 T C 1: 188,988,927 (GRCm39) probably null Het
Kdm6b A T 11: 69,295,844 (GRCm39) S808T unknown Het
Klhl30 C T 1: 91,283,228 (GRCm39) R277W probably damaging Het
Lama1 A G 17: 68,080,707 (GRCm39) Q1245R probably benign Het
Lingo3 G T 10: 80,671,169 (GRCm39) H254N probably benign Het
Lzts1 A T 8: 69,588,392 (GRCm39) H521Q possibly damaging Het
Map3k19 A C 1: 127,749,919 (GRCm39) I1144S possibly damaging Het
Mast2 T C 4: 116,170,043 (GRCm39) probably benign Het
Mast2 A G 4: 116,165,184 (GRCm39) S1411P probably damaging Het
Mesp1 G T 7: 79,442,328 (GRCm39) S225R possibly damaging Het
Micu1 A G 10: 59,675,503 (GRCm39) T366A possibly damaging Het
Mideas G T 12: 84,205,077 (GRCm39) N834K possibly damaging Het
Mknk2 T C 10: 80,507,742 (GRCm39) probably null Het
Msh5 A G 17: 35,258,199 (GRCm39) L309P probably damaging Het
Myo7b T C 18: 32,127,962 (GRCm39) I577V probably benign Het
Myom2 T A 8: 15,167,698 (GRCm39) D1094E probably damaging Het
Nedd1 T C 10: 92,527,693 (GRCm39) probably null Het
Neu4 T C 1: 93,950,191 (GRCm39) L50S probably damaging Het
Noa1 T C 5: 77,457,722 (GRCm39) Y61C probably benign Het
Nr1h4 A T 10: 89,342,390 (GRCm39) M30K probably benign Het
Nsd3 A G 8: 26,199,096 (GRCm39) I1219V probably benign Het
Nup188 T A 2: 30,233,478 (GRCm39) probably null Het
Or10ag2 T A 2: 87,248,612 (GRCm39) Y71* probably null Het
Or5al5 A G 2: 85,961,378 (GRCm39) S210P probably damaging Het
Or6c208 T A 10: 129,224,162 (GRCm39) I220N possibly damaging Het
Or6k2 A T 1: 173,986,920 (GRCm39) T194S probably benign Het
Pbk G A 14: 66,051,245 (GRCm39) probably benign Het
Pcnx2 G A 8: 126,487,459 (GRCm39) T1848M possibly damaging Het
Pdzd7 C T 19: 45,033,914 (GRCm39) G57R possibly damaging Het
Pik3r4 C A 9: 105,546,386 (GRCm39) probably benign Het
Plce1 A G 19: 38,766,433 (GRCm39) S2153G probably damaging Het
Potefam1 C T 2: 111,044,928 (GRCm39) probably null Het
Pphln1 G A 15: 93,318,192 (GRCm39) V34M possibly damaging Het
Prrc2a T C 17: 35,375,308 (GRCm39) D1114G probably damaging Het
Prss16 T C 13: 22,193,546 (GRCm39) probably benign Het
Rtp3 T C 9: 110,816,168 (GRCm39) K128E probably damaging Het
Scn3a T A 2: 65,355,194 (GRCm39) I241F possibly damaging Het
Setd1a G A 7: 127,386,382 (GRCm39) V336I probably damaging Het
Sfpq A G 4: 126,916,762 (GRCm39) I320V possibly damaging Het
Skint5 A T 4: 113,620,679 (GRCm39) D678E unknown Het
Slc12a9 G A 5: 137,313,638 (GRCm39) P774S probably benign Het
Slc25a54 C G 3: 109,019,481 (GRCm39) L362V possibly damaging Het
Smarcd1 A G 15: 99,605,267 (GRCm39) probably null Het
Spata31e5 T A 1: 28,816,011 (GRCm39) N674Y probably damaging Het
Suco A T 1: 161,661,683 (GRCm39) M916K probably damaging Het
Tiam2 T C 17: 3,564,973 (GRCm39) S1404P possibly damaging Het
Topors T C 4: 40,260,333 (GRCm39) T984A unknown Het
Trabd2b A T 4: 114,443,767 (GRCm39) K308M probably damaging Het
Trmo A T 4: 46,377,083 (GRCm39) probably benign Het
Trpc3 A T 3: 36,725,654 (GRCm39) D107E probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Uggt2 A C 14: 119,295,010 (GRCm39) Y539D probably benign Het
Wwc2 T G 8: 48,353,674 (GRCm39) probably benign Het
Zdbf2 T A 1: 63,344,109 (GRCm39) D829E possibly 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
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
R3759:Grm4 UTSW 17 27,654,273 (GRCm39) missense probably benign 0.00
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'- TGCTCAAAGATGCGGTAGATGCGG -3'
(R):5'- GTCATTGGCAGATAGAGCGGATGC -3'

Sequencing Primer
(F):5'- TAGCTGATGCTCATGCCAAG -3'
(R):5'- AGCTGCCACGCTCCATC -3'
Posted On 2013-07-11