Incidental Mutation 'R4486:Grm6'
ID 331626
Institutional Source Beutler Lab
Gene Symbol Grm6
Ensembl Gene ENSMUSG00000000617
Gene Name glutamate receptor, metabotropic 6
Synonyms nob3, mGluR6, nerg1
MMRRC Submission 041742-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4486 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 50741512-50757035 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50750816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 660 (S660P)
Ref Sequence ENSEMBL: ENSMUSP00000130728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000631] [ENSMUST00000171427]
AlphaFold Q5NCH9
Predicted Effect probably damaging
Transcript: ENSMUST00000000631
AA Change: S660P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000000631
Gene: ENSMUSG00000000617
AA Change: S660P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:ANF_receptor 61 471 4.1e-101 PFAM
Pfam:Peripla_BP_6 132 475 1.7e-11 PFAM
Pfam:NCD3G 508 558 5.3e-16 PFAM
low complexity region 575 587 N/A INTRINSIC
Pfam:7tm_3 589 837 7.2e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126890
Predicted Effect probably damaging
Transcript: ENSMUST00000171427
AA Change: S660P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130728
Gene: ENSMUSG00000000617
AA Change: S660P

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:ANF_receptor 61 471 2.5e-106 PFAM
Pfam:Peripla_BP_6 132 338 6.2e-10 PFAM
Pfam:NCD3G 508 558 4e-13 PFAM
low complexity region 575 587 N/A INTRINSIC
Pfam:7tm_3 591 836 1.4e-56 PFAM
Meta Mutation Damage Score 0.5385 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 94% (45/48)
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. [provided by RefSeq, Feb 2012]
PHENOTYPE: Homozygous null mice show loss of ON responses without significant alteration of OFF responses in visual transmission or changes in visual behavioral responses. ENU-induced mutant mice have an ERG that lacks the rod b-wave and scotopic threshold response, while the cone ERG is of large amplitude. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,062,486 (GRCm39) V484A probably damaging Het
Adam22 A T 5: 8,230,227 (GRCm39) probably benign Het
Adamts18 G T 8: 114,439,825 (GRCm39) P923T probably benign Het
Ank3 C T 10: 69,837,804 (GRCm39) T1604I possibly damaging Het
Armc10 A G 5: 21,858,432 (GRCm39) Q159R probably damaging Het
Arnt2 T A 7: 83,924,553 (GRCm39) T425S probably benign Het
B4galt3 A G 1: 171,099,343 (GRCm39) T36A possibly damaging Het
Bbx A G 16: 50,020,777 (GRCm39) V799A probably damaging Het
Bud23 T C 5: 135,092,779 (GRCm39) probably null Het
Cnga2 T A X: 71,049,733 (GRCm39) F133I possibly damaging Het
Crispld1 A G 1: 17,823,102 (GRCm39) T390A probably benign Het
Cyp4f39 T A 17: 32,702,428 (GRCm39) D308E probably damaging Het
Dnah6 A G 6: 73,015,729 (GRCm39) V3584A probably damaging Het
Ecpas A G 4: 58,820,086 (GRCm39) probably benign Het
Frk T C 10: 34,484,377 (GRCm39) I450T probably benign Het
Hao2 T A 3: 98,789,341 (GRCm39) I116F probably damaging Het
Hyi G A 4: 118,219,674 (GRCm39) G237D probably damaging Het
Jrkl T C 9: 13,245,376 (GRCm39) N95S probably benign Het
Kifbp A G 10: 62,398,806 (GRCm39) probably benign Het
Nanog T C 6: 122,689,676 (GRCm39) probably null Het
Ngf G A 3: 102,428,015 (GRCm39) D255N probably damaging Het
Nlrp4e A G 7: 23,020,652 (GRCm39) I380V probably benign Het
Or52e7 T C 7: 104,684,510 (GRCm39) F35S probably benign Het
Or6c76b T C 10: 129,692,567 (GRCm39) F60S probably damaging Het
Pcdha3 T C 18: 37,080,404 (GRCm39) V382A probably damaging Het
Pla2g4c T A 7: 13,071,676 (GRCm39) N165K probably benign Het
Rexo5 T C 7: 119,424,800 (GRCm39) I362T probably benign Het
Rpl7a-ps3 G A 15: 36,308,429 (GRCm39) noncoding transcript Het
Rpusd2 T C 2: 118,865,705 (GRCm39) V134A probably damaging Het
Serpina1c T A 12: 103,863,259 (GRCm39) probably null Het
Slc6a19 A T 13: 73,829,836 (GRCm39) I606N probably damaging Het
Smchd1 T C 17: 71,714,230 (GRCm39) T878A probably benign Het
Tas2r143 A G 6: 42,377,628 (GRCm39) M153V probably benign Het
Thrb G T 14: 17,925,640 (GRCm38) M1I probably null Het
Trbc2 A G 6: 41,523,814 (GRCm39) probably benign Het
Trim37 T A 11: 87,087,651 (GRCm39) S587R probably benign Het
Ulbp1 T A 10: 7,397,397 (GRCm39) H151L probably benign Het
Vmn2r54 A T 7: 12,366,199 (GRCm39) L245* probably null Het
Vmn2r78 A C 7: 86,569,959 (GRCm39) probably null Het
Xlr5b T C X: 72,201,504 (GRCm39) probably null Het
Xrcc4 A C 13: 90,140,707 (GRCm39) S167R possibly damaging Het
Zfp994 C T 17: 22,420,541 (GRCm39) C136Y probably damaging Het
Other mutations in Grm6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Grm6 APN 11 50,754,124 (GRCm39) splice site probably benign
IGL01305:Grm6 APN 11 50,750,346 (GRCm39) missense probably benign 0.27
IGL02121:Grm6 APN 11 50,750,483 (GRCm39) missense probably damaging 1.00
IGL02413:Grm6 APN 11 50,750,766 (GRCm39) missense probably damaging 0.99
ANU22:Grm6 UTSW 11 50,750,346 (GRCm39) missense probably benign 0.27
R0089:Grm6 UTSW 11 50,750,792 (GRCm39) missense probably damaging 1.00
R0135:Grm6 UTSW 11 50,744,050 (GRCm39) missense probably damaging 0.99
R0147:Grm6 UTSW 11 50,750,144 (GRCm39) missense possibly damaging 0.89
R1498:Grm6 UTSW 11 50,748,083 (GRCm39) missense probably damaging 1.00
R1577:Grm6 UTSW 11 50,753,972 (GRCm39) missense probably damaging 1.00
R1666:Grm6 UTSW 11 50,750,711 (GRCm39) missense probably damaging 1.00
R2923:Grm6 UTSW 11 50,755,348 (GRCm39) missense probably damaging 1.00
R4060:Grm6 UTSW 11 50,744,051 (GRCm39) missense probably damaging 1.00
R4488:Grm6 UTSW 11 50,750,816 (GRCm39) missense probably damaging 0.99
R4489:Grm6 UTSW 11 50,750,816 (GRCm39) missense probably damaging 0.99
R4646:Grm6 UTSW 11 50,748,033 (GRCm39) missense probably benign 0.03
R4701:Grm6 UTSW 11 50,753,837 (GRCm39) missense probably damaging 1.00
R4785:Grm6 UTSW 11 50,748,104 (GRCm39) missense probably benign 0.00
R4860:Grm6 UTSW 11 50,755,439 (GRCm39) missense probably benign 0.31
R5603:Grm6 UTSW 11 50,747,786 (GRCm39) missense probably damaging 1.00
R6104:Grm6 UTSW 11 50,750,144 (GRCm39) missense possibly damaging 0.89
R6746:Grm6 UTSW 11 50,747,790 (GRCm39) missense probably damaging 1.00
R6791:Grm6 UTSW 11 50,750,601 (GRCm39) missense possibly damaging 0.74
R6802:Grm6 UTSW 11 50,744,216 (GRCm39) missense probably benign 0.24
R6856:Grm6 UTSW 11 50,750,652 (GRCm39) missense probably damaging 1.00
R7102:Grm6 UTSW 11 50,753,804 (GRCm39) missense possibly damaging 0.87
R7221:Grm6 UTSW 11 50,753,870 (GRCm39) missense probably damaging 0.97
R7727:Grm6 UTSW 11 50,742,369 (GRCm39) missense probably benign 0.02
R7783:Grm6 UTSW 11 50,753,909 (GRCm39) missense probably damaging 1.00
R7876:Grm6 UTSW 11 50,750,457 (GRCm39) missense probably damaging 1.00
R8006:Grm6 UTSW 11 50,755,484 (GRCm39) makesense probably null
R8985:Grm6 UTSW 11 50,746,537 (GRCm39) missense possibly damaging 0.94
R9666:Grm6 UTSW 11 50,750,877 (GRCm39) missense probably damaging 1.00
X0025:Grm6 UTSW 11 50,753,922 (GRCm39) missense probably damaging 1.00
Z1176:Grm6 UTSW 11 50,750,364 (GRCm39) missense probably benign 0.43
Z1177:Grm6 UTSW 11 50,750,694 (GRCm39) missense probably damaging 1.00
Z1177:Grm6 UTSW 11 50,742,327 (GRCm39) missense probably benign 0.00
Z1177:Grm6 UTSW 11 50,742,089 (GRCm39) missense probably benign 0.40
Predicted Primers PCR Primer
(F):5'- AACTATCATTGCTACCTTCATGCG -3'
(R):5'- ATTCTCCGAGTTTTAAGGCGAAGG -3'

Sequencing Primer
(F):5'- TTGCTACCTTCATGCGACACAAC -3'
(R):5'- TTTAAGGCGAAGGACTCTATGCACC -3'
Posted On 2015-07-21