Incidental Mutation 'IGL01154:Grm4'
ID 53136
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grm4
Ensembl Gene ENSMUSG00000063239
Gene Name glutamate receptor, metabotropic 4
Synonyms mGluR4, Gprc1d
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01154
Quality Score
Status
Chromosome 17
Chromosomal Location 27422387-27521403 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 27434737 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 699 (C699*)
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 null
Transcript: ENSMUST00000118161
AA Change: C746*
SMART Domains Protein: ENSMUSP00000113819
Gene: ENSMUSG00000063239
AA Change: C746*

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 null
Transcript: ENSMUST00000118489
AA Change: C746*
SMART Domains Protein: ENSMUSP00000112578
Gene: ENSMUSG00000063239
AA Change: C746*

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 null
Transcript: ENSMUST00000231290
AA Change: C746*
Predicted Effect probably null
Transcript: ENSMUST00000231416
AA Change: C491*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231804
Predicted Effect probably null
Transcript: ENSMUST00000231809
AA Change: C699*
Predicted Effect probably benign
Transcript: ENSMUST00000232243
Coding Region Coverage
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
2210408I21Rik T G 13: 77,281,094 F767V probably benign Het
A2m C A 6: 121,673,542 S1203* probably null Het
Abcc3 T C 11: 94,359,232 probably benign Het
Adamts13 T C 2: 27,006,194 Y1200H probably benign Het
Aldh1l2 T C 10: 83,520,373 D51G probably damaging Het
Apc2 A G 10: 80,313,069 E1319G possibly damaging Het
Arap3 A T 18: 37,996,734 S125T probably benign Het
Atp2b1 T A 10: 98,996,888 V417E probably damaging Het
Bpifa1 T A 2: 154,144,000 D78E probably benign Het
Catsperb C A 12: 101,625,681 A1090E possibly damaging Het
Ceacam9 C A 7: 16,723,961 T138K probably damaging Het
Cenpf T A 1: 189,680,333 E244D probably benign Het
Cep135 A T 5: 76,606,796 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Col15a1 A C 4: 47,208,450 T6P possibly damaging Het
Cyp11b1 T A 15: 74,838,534 Q306L probably benign Het
Defa22 T A 8: 21,163,037 probably null Het
Dnah5 A T 15: 28,458,656 T4480S possibly damaging Het
Fastkd1 T C 2: 69,690,060 probably null Het
Flt1 A G 5: 147,576,156 Y1124H possibly damaging Het
Fsd1l A G 4: 53,701,074 M469V probably benign Het
Fxr2 T C 11: 69,641,433 probably benign Het
Gm10801 A T 2: 98,663,983 Y135F probably benign Het
Hcn4 A G 9: 58,859,079 T677A unknown Het
Igkv9-123 G T 6: 67,954,534 probably benign Het
Irf4 T A 13: 30,757,421 H253Q possibly damaging Het
Jakmip2 T C 18: 43,590,679 probably benign Het
Kmt2c A G 5: 25,284,399 V1134A probably damaging Het
Limch1 G T 5: 66,745,958 E17* probably null Het
Nap1l1 T A 10: 111,486,675 N72K probably damaging Het
Olfr1265 T C 2: 90,037,468 L183P probably damaging Het
Olfr574 T C 7: 102,948,839 S115P probably damaging Het
Otud6b A T 4: 14,811,732 Y304N probably damaging Het
Pdcd10 A C 3: 75,541,233 M8R probably damaging Het
Ppip5k1 T C 2: 121,343,179 T404A probably damaging Het
Ppp2r2d C T 7: 138,882,211 A197V probably benign Het
Psg25 C T 7: 18,524,699 D351N probably benign Het
Sbno1 A T 5: 124,410,249 I87N probably damaging Het
Stfa2l1 C T 16: 36,159,937 probably benign Het
Sugp2 T A 8: 70,242,699 D107E probably damaging Het
Syne1 G T 10: 5,360,848 F576L probably damaging Het
Syne3 A G 12: 104,958,069 F357S probably benign Het
Tenm2 A G 11: 36,041,544 L1741P probably damaging Het
Tgs1 A T 4: 3,585,473 K117* probably null Het
Tram1 C T 1: 13,579,449 probably null Het
Trank1 T A 9: 111,386,400 D1799E probably benign Het
Ttc14 A T 3: 33,803,099 Y198F probably benign Het
Ube3b A G 5: 114,406,252 N570S probably null Het
Ube4b A G 4: 149,365,470 F412S probably benign Het
Vac14 T C 8: 110,653,607 probably benign Het
Vmn2r65 T C 7: 84,943,521 T493A probably benign Het
Zfp408 T C 2: 91,648,006 probably benign Het
Zfp580 C T 7: 5,053,268 T209I possibly damaging Het
Other mutations in Grm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02380:Grm4 APN 17 27434661 missense probably damaging 1.00
IGL03244:Grm4 APN 17 27434823 missense probably damaging 0.99
R0013:Grm4 UTSW 17 27431575 missense probably benign 0.01
R0352:Grm4 UTSW 17 27451891 splice site probably benign
R0599:Grm4 UTSW 17 27431490 missense probably benign 0.39
R0616:Grm4 UTSW 17 27434564 missense probably damaging 1.00
R0645:Grm4 UTSW 17 27435209 missense probably damaging 1.00
R0726:Grm4 UTSW 17 27438438 splice site probably benign
R1085:Grm4 UTSW 17 27473033 missense probably damaging 1.00
R1486:Grm4 UTSW 17 27434717 missense probably damaging 1.00
R1535:Grm4 UTSW 17 27434801 missense probably benign 0.01
R1799:Grm4 UTSW 17 27472940 missense probably damaging 0.99
R1914:Grm4 UTSW 17 27434712 missense probably damaging 0.99
R2472:Grm4 UTSW 17 27434675 missense probably damaging 1.00
R3759:Grm4 UTSW 17 27435299 missense probably benign 0.00
R4244:Grm4 UTSW 17 27502735 missense probably damaging 1.00
R5390:Grm4 UTSW 17 27434738 missense probably damaging 1.00
R5476:Grm4 UTSW 17 27434798 missense probably benign 0.04
R5516:Grm4 UTSW 17 27438411 missense probably benign 0.06
R5897:Grm4 UTSW 17 27435163 missense probably benign 0.02
R5956:Grm4 UTSW 17 27435155 missense probably benign 0.01
R6391:Grm4 UTSW 17 27435320 missense probably benign 0.00
R7330:Grm4 UTSW 17 27434824 nonsense probably null
R7449:Grm4 UTSW 17 27435371 missense probably damaging 1.00
R8338:Grm4 UTSW 17 27435003 missense probably damaging 1.00
R8734:Grm4 UTSW 17 27438791 missense probably damaging 1.00
R8899:Grm4 UTSW 17 27434780 missense probably damaging 1.00
R9157:Grm4 UTSW 17 27434982 missense probably benign 0.21
R9203:Grm4 UTSW 17 27435006 missense probably benign 0.04
R9267:Grm4 UTSW 17 27435209 missense possibly damaging 0.86
R9292:Grm4 UTSW 17 27473063 missense probably damaging 1.00
R9344:Grm4 UTSW 17 27434763 missense probably benign 0.09
Z1177:Grm4 UTSW 17 27450194 nonsense probably null
Z1177:Grm4 UTSW 17 27450221 missense probably benign 0.12
Posted On 2013-06-21