Incidental Mutation 'R0137:Grm8'
ID 22020
Institutional Source Beutler Lab
Gene Symbol Grm8
Ensembl Gene ENSMUSG00000024211
Gene Name glutamate receptor, metabotropic 8
Synonyms mGluR8, Gprc1h
MMRRC Submission 038422-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0137 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 6
Chromosomal Location 27275120-28135094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 27762389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 279 (I279F)
Ref Sequence ENSEMBL: ENSMUSP00000120394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090512] [ENSMUST00000115323] [ENSMUST00000115324] [ENSMUST00000131897]
AlphaFold P47743
Predicted Effect probably damaging
Transcript: ENSMUST00000090512
AA Change: I279F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087998
Gene: ENSMUSG00000024211
AA Change: I279F

DomainStartEndE-ValueType
Pfam:ANF_receptor 74 478 9.6e-102 PFAM
Pfam:Peripla_BP_6 141 375 1.3e-9 PFAM
Pfam:NCD3G 512 562 5e-17 PFAM
Pfam:7tm_3 593 841 4.7e-88 PFAM
low complexity region 887 905 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000115323
AA Change: I279F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110978
Gene: ENSMUSG00000024211
AA Change: I279F

DomainStartEndE-ValueType
Pfam:ANF_receptor 74 478 3.3e-107 PFAM
Pfam:NCD3G 512 562 9e-14 PFAM
Pfam:7tm_3 595 840 6.8e-58 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115324
AA Change: I279F

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110979
Gene: ENSMUSG00000024211
AA Change: I279F

DomainStartEndE-ValueType
Pfam:ANF_receptor 74 478 2.1e-101 PFAM
Pfam:Peripla_BP_6 141 375 9.2e-10 PFAM
Pfam:NCD3G 512 562 2.8e-16 PFAM
Pfam:7tm_3 593 841 2.4e-87 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131897
AA Change: I279F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000120394
Gene: ENSMUSG00000024211
AA Change: I279F

DomainStartEndE-ValueType
Pfam:ANF_receptor 74 294 5.8e-66 PFAM
Meta Mutation Damage Score 0.1421 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 95% (94/99)
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. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are overweight and mildly insulin resistant, and display increased anxiety-related responses and reduced exploration in a new environment. Mice homozygous for a different knock-out allele exhibit altered excitatory responses in the dentate gyrus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik A T 8: 120,878,115 (GRCm39) H190L possibly damaging Het
Adap1 A G 5: 139,278,976 (GRCm39) probably benign Het
Adgra3 C T 5: 50,121,182 (GRCm39) probably benign Het
Adgre5 A T 8: 84,451,527 (GRCm39) V527E probably damaging Het
Anapc5 A T 5: 122,938,695 (GRCm39) Y360N probably damaging Het
Angptl6 C A 9: 20,789,683 (GRCm39) A70S probably benign Het
Ankdd1a C A 9: 65,417,610 (GRCm39) K137N probably null Het
Ccdc170 T C 10: 4,496,950 (GRCm39) probably benign Het
Ccdc51 A G 9: 108,920,698 (GRCm39) E195G probably damaging Het
Cdc37 A T 9: 21,053,426 (GRCm39) C204S possibly damaging Het
Cfap36 T C 11: 29,172,431 (GRCm39) probably benign Het
Col6a2 C A 10: 76,432,259 (GRCm39) G965C probably damaging Het
Csn1s2a G A 5: 87,926,826 (GRCm39) S53N possibly damaging Het
Dab2ip T C 2: 35,582,388 (GRCm39) probably null Het
Dhx58 A G 11: 100,587,823 (GRCm39) V578A probably damaging Het
Diaph1 G T 18: 38,024,902 (GRCm39) Q520K unknown Het
Eefsec C A 6: 88,274,631 (GRCm39) K444N probably benign Het
Eftud2 A T 11: 102,759,443 (GRCm39) H153Q possibly damaging Het
Eif5b T G 1: 38,058,324 (GRCm39) S209A probably benign Het
Exosc2 T A 2: 31,562,497 (GRCm39) Y46N probably damaging Het
F2 C T 2: 91,456,075 (GRCm39) G562D probably damaging Het
Fgf23 G A 6: 127,057,128 (GRCm39) G148D probably damaging Het
Fmnl3 G C 15: 99,220,619 (GRCm39) probably benign Het
Fstl5 G A 3: 76,614,786 (GRCm39) G179R probably damaging Het
Garre1 A T 7: 33,938,644 (GRCm39) W246R probably damaging Het
Gart T A 16: 91,422,282 (GRCm39) Q745L probably benign Het
Gmeb1 T A 4: 131,959,419 (GRCm39) M212L probably benign Het
Gpaa1 T C 15: 76,218,981 (GRCm39) Y548H probably damaging Het
Gpatch1 T C 7: 34,986,667 (GRCm39) E763G probably damaging Het
Hcls1 T A 16: 36,771,536 (GRCm39) H147Q probably damaging Het
Hpcal1 A C 12: 17,836,389 (GRCm39) D73A probably damaging Het
Il22ra1 T C 4: 135,478,317 (GRCm39) S463P probably benign Het
Itgbl1 G A 14: 124,078,098 (GRCm39) probably null Het
Izumo3 G T 4: 92,035,437 (GRCm39) probably benign Het
Kcna5 A T 6: 126,510,346 (GRCm39) L594Q probably damaging Het
Kif13a A T 13: 46,918,079 (GRCm39) D409E probably benign Het
Kif9 A T 9: 110,314,106 (GRCm39) I39F probably damaging Het
Klri2 C T 6: 129,709,171 (GRCm39) R227H possibly damaging Het
Lamc3 G A 2: 31,798,628 (GRCm39) G445S probably damaging Het
Lctl A G 9: 64,024,980 (GRCm39) probably benign Het
Lrp4 T C 2: 91,325,327 (GRCm39) L1384P probably damaging Het
Mcm9 G A 10: 53,439,526 (GRCm39) S549L possibly damaging Het
Ms4a15 G A 19: 10,956,697 (GRCm39) probably benign Het
Mtor T C 4: 148,555,081 (GRCm39) V901A possibly damaging Het
Nckap1l A T 15: 103,390,391 (GRCm39) I721F probably benign Het
Nemp2 T C 1: 52,684,588 (GRCm39) V298A probably benign Het
Npc1l1 T A 11: 6,178,148 (GRCm39) K421* probably null Het
Npr1 C T 3: 90,363,244 (GRCm39) V879M probably damaging Het
Odad4 A G 11: 100,454,394 (GRCm39) E393G probably damaging Het
Or2ad1 A G 13: 21,326,336 (GRCm39) V297A possibly damaging Het
Or51q1c A G 7: 103,652,709 (GRCm39) T82A probably benign Het
Osgin1 A T 8: 120,169,219 (GRCm39) I39F possibly damaging Het
Phip G C 9: 82,809,244 (GRCm39) probably null Het
Pkdrej G T 15: 85,705,768 (GRCm39) P56Q possibly damaging Het
Plcxd2 A G 16: 45,800,889 (GRCm39) Y112H probably damaging Het
Plekha1 C T 7: 130,499,176 (GRCm39) T155M probably damaging Het
Prkdc T C 16: 15,558,196 (GRCm39) probably null Het
Prss1 A G 6: 41,439,495 (GRCm39) H76R probably damaging Het
Psg23 T C 7: 18,348,558 (GRCm39) D83G probably benign Het
Ptprd T A 4: 76,055,140 (GRCm39) Q196L probably benign Het
Ranbp3l A T 15: 9,063,067 (GRCm39) H292L probably damaging Het
Ranbp6 T C 19: 29,787,097 (GRCm39) E1085G probably benign Het
Rccd1 A G 7: 79,970,326 (GRCm39) V97A possibly damaging Het
Rchy1 T C 5: 92,105,458 (GRCm39) S48G probably benign Het
Rnmt G A 18: 68,446,771 (GRCm39) M265I probably benign Het
Robo3 A T 9: 37,336,640 (GRCm39) M376K probably benign Het
Rrp12 T C 19: 41,862,289 (GRCm39) D898G probably benign Het
Scg3 A T 9: 75,570,462 (GRCm39) probably benign Het
Sec31b A T 19: 44,522,821 (GRCm39) M57K probably damaging Het
Slc17a6 A C 7: 51,315,892 (GRCm39) I387L probably benign Het
Speer4a1 T A 5: 26,240,982 (GRCm39) Q170L possibly damaging Het
Srsf9 A G 5: 115,470,260 (GRCm39) D146G possibly damaging Het
Ss18 A G 18: 14,788,200 (GRCm39) M90T probably damaging Het
Syna A T 5: 134,588,314 (GRCm39) F212I possibly damaging Het
Tex54 A G 19: 8,718,221 (GRCm39) probably benign Het
Thsd1 A G 8: 22,733,055 (GRCm39) H34R probably damaging Het
Tmem143 T C 7: 45,547,086 (GRCm39) I84T probably benign Het
Trim50 T C 5: 135,395,487 (GRCm39) V281A probably damaging Het
Trp53i11 C A 2: 93,029,696 (GRCm39) probably benign Het
Ttll4 C T 1: 74,718,851 (GRCm39) T234I possibly damaging Het
Ttyh1 A T 7: 4,127,719 (GRCm39) I136F possibly damaging Het
Ube2f T C 1: 91,189,976 (GRCm39) probably benign Het
Vcl T A 14: 21,037,083 (GRCm39) L227* probably null Het
Vmn1r222 A C 13: 23,416,974 (GRCm39) C80G probably damaging Het
Vps13b G T 15: 35,926,365 (GRCm39) A3889S probably benign Het
Vps8 T C 16: 21,323,136 (GRCm39) probably benign Het
Zbtb44 A G 9: 30,978,006 (GRCm39) Y422C probably damaging Het
Zfp180 A G 7: 23,805,158 (GRCm39) S526G possibly damaging Het
Zfp518a A C 19: 40,904,310 (GRCm39) E1413A probably damaging Het
Zfp629 T A 7: 127,210,858 (GRCm39) Y317F probably damaging Het
Zfp804b T C 5: 6,820,534 (GRCm39) E843G probably benign Het
Other mutations in Grm8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01310:Grm8 APN 6 27,363,800 (GRCm39) missense probably damaging 1.00
IGL01412:Grm8 APN 6 27,762,460 (GRCm39) missense probably damaging 1.00
IGL02329:Grm8 APN 6 27,363,115 (GRCm39) missense probably damaging 1.00
IGL02342:Grm8 APN 6 27,363,803 (GRCm39) missense probably benign 0.00
IGL02584:Grm8 APN 6 27,762,438 (GRCm39) missense probably benign 0.35
IGL03040:Grm8 APN 6 28,126,122 (GRCm39) start codon destroyed probably null 0.01
IGL03112:Grm8 APN 6 27,363,262 (GRCm39) missense probably damaging 1.00
IGL03139:Grm8 APN 6 27,618,649 (GRCm39) missense probably damaging 1.00
IGL03287:Grm8 APN 6 27,760,254 (GRCm39) missense possibly damaging 0.86
R0266:Grm8 UTSW 6 27,285,895 (GRCm39) missense probably damaging 1.00
R0347:Grm8 UTSW 6 27,981,221 (GRCm39) missense probably benign 0.37
R0580:Grm8 UTSW 6 27,761,370 (GRCm39) splice site probably benign
R0698:Grm8 UTSW 6 27,363,913 (GRCm39) missense probably damaging 1.00
R0833:Grm8 UTSW 6 27,363,178 (GRCm39) missense probably damaging 1.00
R1301:Grm8 UTSW 6 27,981,200 (GRCm39) missense possibly damaging 0.94
R1323:Grm8 UTSW 6 28,125,973 (GRCm39) missense probably damaging 1.00
R1323:Grm8 UTSW 6 28,125,973 (GRCm39) missense probably damaging 1.00
R1471:Grm8 UTSW 6 27,363,308 (GRCm39) missense possibly damaging 0.79
R1554:Grm8 UTSW 6 28,125,852 (GRCm39) missense probably benign 0.01
R1638:Grm8 UTSW 6 28,125,882 (GRCm39) nonsense probably null
R1763:Grm8 UTSW 6 27,285,866 (GRCm39) missense possibly damaging 0.79
R1899:Grm8 UTSW 6 28,125,894 (GRCm39) missense probably damaging 1.00
R1902:Grm8 UTSW 6 27,429,481 (GRCm39) missense probably damaging 1.00
R1916:Grm8 UTSW 6 27,363,583 (GRCm39) missense probably benign 0.01
R2257:Grm8 UTSW 6 27,760,224 (GRCm39) missense probably damaging 0.98
R2351:Grm8 UTSW 6 28,126,118 (GRCm39) missense possibly damaging 0.66
R2396:Grm8 UTSW 6 27,761,241 (GRCm39) missense probably damaging 0.98
R3801:Grm8 UTSW 6 28,125,635 (GRCm39) missense possibly damaging 0.95
R3802:Grm8 UTSW 6 28,125,635 (GRCm39) missense possibly damaging 0.95
R3803:Grm8 UTSW 6 28,125,635 (GRCm39) missense possibly damaging 0.95
R3804:Grm8 UTSW 6 28,125,635 (GRCm39) missense possibly damaging 0.95
R3830:Grm8 UTSW 6 27,761,228 (GRCm39) nonsense probably null
R3844:Grm8 UTSW 6 27,429,507 (GRCm39) missense possibly damaging 0.69
R4006:Grm8 UTSW 6 27,981,229 (GRCm39) missense probably damaging 1.00
R4077:Grm8 UTSW 6 27,760,208 (GRCm39) missense probably benign 0.01
R4395:Grm8 UTSW 6 27,429,431 (GRCm39) missense probably damaging 0.98
R4436:Grm8 UTSW 6 27,761,237 (GRCm39) missense possibly damaging 0.48
R4810:Grm8 UTSW 6 27,761,295 (GRCm39) missense possibly damaging 0.87
R5357:Grm8 UTSW 6 27,762,418 (GRCm39) missense probably damaging 1.00
R5677:Grm8 UTSW 6 27,761,203 (GRCm39) critical splice donor site probably null
R5983:Grm8 UTSW 6 27,760,220 (GRCm39) missense probably benign 0.03
R5990:Grm8 UTSW 6 27,363,623 (GRCm39) missense probably damaging 1.00
R6365:Grm8 UTSW 6 27,363,226 (GRCm39) missense probably damaging 1.00
R6454:Grm8 UTSW 6 27,363,775 (GRCm39) missense possibly damaging 0.68
R6713:Grm8 UTSW 6 27,363,190 (GRCm39) missense probably damaging 1.00
R6960:Grm8 UTSW 6 27,981,281 (GRCm39) missense probably damaging 0.98
R7194:Grm8 UTSW 6 27,618,486 (GRCm39) missense probably benign 0.01
R7259:Grm8 UTSW 6 27,760,175 (GRCm39) missense probably null 0.99
R7305:Grm8 UTSW 6 27,761,354 (GRCm39) missense possibly damaging 0.51
R7421:Grm8 UTSW 6 27,762,476 (GRCm39) missense possibly damaging 0.66
R7561:Grm8 UTSW 6 27,429,524 (GRCm39) missense probably benign 0.44
R7605:Grm8 UTSW 6 27,618,678 (GRCm39) missense probably damaging 1.00
R7651:Grm8 UTSW 6 27,760,257 (GRCm39) missense possibly damaging 0.46
R7775:Grm8 UTSW 6 27,363,671 (GRCm39) missense possibly damaging 0.89
R7778:Grm8 UTSW 6 27,363,671 (GRCm39) missense possibly damaging 0.89
R7781:Grm8 UTSW 6 27,285,786 (GRCm39) missense probably benign
R7785:Grm8 UTSW 6 27,618,636 (GRCm39) missense probably damaging 0.99
R7898:Grm8 UTSW 6 27,762,422 (GRCm39) missense probably damaging 1.00
R8272:Grm8 UTSW 6 27,363,281 (GRCm39) missense probably damaging 1.00
R8274:Grm8 UTSW 6 27,761,335 (GRCm39) missense probably benign 0.31
R8501:Grm8 UTSW 6 27,618,540 (GRCm39) missense probably damaging 0.98
R8695:Grm8 UTSW 6 28,126,030 (GRCm39) missense probably benign 0.01
R8824:Grm8 UTSW 6 27,761,351 (GRCm39) missense probably damaging 1.00
R8869:Grm8 UTSW 6 27,363,752 (GRCm39) missense probably benign 0.26
R9322:Grm8 UTSW 6 27,363,728 (GRCm39) missense possibly damaging 0.88
R9337:Grm8 UTSW 6 27,761,214 (GRCm39) missense probably benign 0.01
R9518:Grm8 UTSW 6 27,429,469 (GRCm39) missense probably benign 0.01
RF013:Grm8 UTSW 6 27,363,779 (GRCm39) missense probably damaging 1.00
Z1176:Grm8 UTSW 6 28,126,026 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- GCAGAGGAATCTAGTGATGCCTGTG -3'
(R):5'- AGCAGAAAAGGGGTCTTGCAATTCA -3'

Sequencing Primer
(F):5'- AGTGATGCCTGTGAAATCTCACC -3'
(R):5'- CCAAGACCTGGAGAATTCGA -3'
Posted On 2013-04-12