Incidental Mutation 'R7305:Grm8'
ID 567227
Institutional Source Beutler Lab
Gene Symbol Grm8
Ensembl Gene ENSMUSG00000024211
Gene Name glutamate receptor, metabotropic 8
Synonyms mGluR8, Gprc1h
MMRRC Submission 045407-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7305 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 27275120-28135094 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27761354 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 290 (I290K)
Ref Sequence ENSEMBL: ENSMUSP00000087998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090512] [ENSMUST00000115323] [ENSMUST00000115324] [ENSMUST00000131897]
AlphaFold P47743
Predicted Effect possibly damaging
Transcript: ENSMUST00000090512
AA Change: I290K

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000087998
Gene: ENSMUSG00000024211
AA Change: I290K

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 benign
Transcript: ENSMUST00000115323
AA Change: I290K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000110978
Gene: ENSMUSG00000024211
AA Change: I290K

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 benign
Transcript: ENSMUST00000115324
AA Change: I290K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000110979
Gene: ENSMUSG00000024211
AA Change: I290K

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 possibly damaging
Transcript: ENSMUST00000131897
AA Change: I290K

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120394
Gene: ENSMUSG00000024211
AA Change: I290K

DomainStartEndE-ValueType
Pfam:ANF_receptor 74 294 5.8e-66 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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. 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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A T 2: 181,135,209 (GRCm39) D37V possibly damaging Het
Ankhd1 A G 18: 36,765,258 (GRCm39) D87G Het
Ankrd31 A G 13: 97,015,479 (GRCm39) S1583G probably damaging Het
Ankub1 T C 3: 57,599,938 (GRCm39) probably benign Het
Apba3 A G 10: 81,107,067 (GRCm39) D264G probably damaging Het
Armh3 A T 19: 45,880,560 (GRCm39) M508K probably benign Het
Asap1 G A 15: 64,002,099 (GRCm39) T404M probably damaging Het
Cnot3 A T 7: 3,648,479 (GRCm39) probably benign Het
Cxxc1 A G 18: 74,352,467 (GRCm39) Y349C probably benign Het
Cyfip1 AGTGT AGT 7: 55,577,937 (GRCm39) probably null Het
Cyp3a57 A G 5: 145,307,795 (GRCm39) I184V probably benign Het
D130052B06Rik GTCTACACTGTCCTGCACAGGTGACCCATCTACCCCGTCCTATCCTGGCGACCCATCTACACTGTCCTG GTCTACACTGTCCTG 11: 33,573,355 (GRCm39) probably null Het
Dab1 T A 4: 104,570,987 (GRCm39) D210E Het
Elavl1 G A 8: 4,375,199 (GRCm39) probably benign Het
Emilin1 C T 5: 31,074,433 (GRCm39) Q225* probably null Het
Eml6 G T 11: 29,727,258 (GRCm39) A1288E probably benign Het
Eno1 T C 4: 150,329,796 (GRCm39) probably null Het
Eprs1 C T 1: 185,111,898 (GRCm39) R303C probably damaging Het
Eps15l1 G A 8: 73,126,878 (GRCm39) A651V probably benign Het
Etl4 A T 2: 20,714,368 (GRCm39) I156F probably damaging Het
Faim2 A T 15: 99,411,814 (GRCm39) I171N probably damaging Het
Fam135a T A 1: 24,069,939 (GRCm39) N381I probably damaging Het
Fhip1a G T 3: 85,637,831 (GRCm39) P156Q probably damaging Het
Gabrg3 T A 7: 56,384,833 (GRCm39) M243L probably benign Het
Garin2 A G 12: 78,761,809 (GRCm39) K158E possibly damaging Het
Gm5134 A G 10: 75,836,233 (GRCm39) I405V probably damaging Het
Gm9376 A T 14: 118,504,768 (GRCm39) K67* probably null Het
Hao1 T A 2: 134,390,121 (GRCm39) M73L probably benign Het
Herc1 A G 9: 66,369,150 (GRCm39) D452G Het
Idh3b C A 2: 130,123,413 (GRCm39) K192N possibly damaging Het
Igkv6-23 A G 6: 70,237,553 (GRCm39) S63P probably benign Het
Itgb2 A C 10: 77,384,398 (GRCm39) D173A probably damaging Het
Jmjd8 A T 17: 26,049,301 (GRCm39) T255S probably benign Het
Lamc3 A C 2: 31,820,714 (GRCm39) E1243A probably benign Het
Map1a A G 2: 121,129,939 (GRCm39) T252A probably damaging Het
Mrgpra1 C A 7: 46,985,203 (GRCm39) A159S probably benign Het
Ndst3 T C 3: 123,395,131 (GRCm39) I500V possibly damaging Het
Nhsl1 A G 10: 18,407,434 (GRCm39) T1523A possibly damaging Het
Nr2f1 A G 13: 78,343,298 (GRCm39) I322T probably damaging Het
Nup210 T C 6: 91,064,948 (GRCm39) E184G probably damaging Het
Obsl1 C T 1: 75,470,590 (GRCm39) W1022* probably null Het
Or2l13 T A 16: 19,306,449 (GRCm39) I287N probably damaging Het
Or4a77 T A 2: 89,486,846 (GRCm39) H313L probably benign Het
Or52p2 G T 7: 102,237,162 (GRCm39) Q263K possibly damaging Het
Or5p51 A T 7: 107,444,572 (GRCm39) Y123N probably damaging Het
Or6c1 A T 10: 129,518,149 (GRCm39) I153N probably damaging Het
Or6c65 T A 10: 129,603,720 (GRCm39) Y118* probably null Het
Otulinl A G 15: 27,658,319 (GRCm39) C184R probably benign Het
Oxr1 C T 15: 41,677,004 (GRCm39) P187L not run Het
Parp8 A G 13: 117,031,461 (GRCm39) L417P possibly damaging Het
Pdia6 A G 12: 17,324,509 (GRCm39) Q120R probably benign Het
Ppp3cc T C 14: 70,478,252 (GRCm39) N290S probably benign Het
Prdm5 C A 6: 65,808,244 (GRCm39) S63R possibly damaging Het
Prr14l T C 5: 32,988,445 (GRCm39) D350G probably benign Het
Pwwp2a T C 11: 43,607,878 (GRCm39) L497S probably damaging Het
R3hdm2 A G 10: 127,312,547 (GRCm39) N430D probably benign Het
Rad51ap2 A G 12: 11,507,344 (GRCm39) N422S possibly damaging Het
Rbbp8 G A 18: 11,805,638 (GRCm39) probably null Het
Rsf1 GGCGGCGGC GGCGGCGGCAGCGGCGGC 7: 97,229,125 (GRCm39) probably benign Het
Slc22a6 G A 19: 8,599,522 (GRCm39) probably null Het
Slc28a3 T A 13: 58,714,045 (GRCm39) E440V possibly damaging Het
Slc30a5 A T 13: 100,947,932 (GRCm39) I482K probably damaging Het
Slco1a1 A T 6: 141,870,223 (GRCm39) F305Y probably damaging Het
Slco1a8 G A 6: 141,938,220 (GRCm39) A253V probably damaging Het
Slco4c1 T C 1: 96,756,690 (GRCm39) N544S probably damaging Het
Smpd4 T A 16: 17,459,647 (GRCm39) I656N probably damaging Het
Spata31h1 A T 10: 82,120,953 (GRCm39) I4019K probably benign Het
Taok1 A T 11: 77,432,500 (GRCm39) L771* probably null Het
Tmem231 T C 8: 112,641,927 (GRCm39) D209G possibly damaging Het
Tmem25 A G 9: 44,706,705 (GRCm39) probably null Het
Tmem79 T C 3: 88,240,718 (GRCm39) T77A probably benign Het
Topbp1 A T 9: 103,205,836 (GRCm39) T825S probably damaging Het
Trpm6 A T 19: 18,853,455 (GRCm39) Q1825L probably benign Het
Uba1y T A Y: 821,348 (GRCm39) D110E probably damaging Het
Utrn A T 10: 12,261,280 (GRCm39) N3422K probably benign Het
Vmn1r219 A T 13: 23,347,314 (GRCm39) M168L probably benign Het
Vmn2r62 T C 7: 42,414,235 (GRCm39) H736R possibly damaging Het
Wdr1 T C 5: 38,697,435 (GRCm39) H291R possibly damaging Het
Zan T C 5: 137,413,401 (GRCm39) T3177A unknown Het
Zbtb21 T C 16: 97,752,495 (GRCm39) H596R possibly damaging 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
R0137:Grm8 UTSW 6 27,762,389 (GRCm39) missense probably damaging 0.99
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
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'- AACCAATAGTTTCACCTCTGAGC -3'
(R):5'- TTTGTATCATCCTGGGGCCC -3'

Sequencing Primer
(F):5'- GTTTCACCTCTGAGCTATGAATTTTG -3'
(R):5'- GTATCATCCTGGGGCCCACAATC -3'
Posted On 2019-06-26