Incidental Mutation 'R6791:Grm6'
ID 532600
Institutional Source Beutler Lab
Gene Symbol Grm6
Ensembl Gene ENSMUSG00000000617
Gene Name glutamate receptor, metabotropic 6
Synonyms nob3, mGluR6, nerg1
MMRRC Submission 044904-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6791 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 50741512-50757035 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50750601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 588 (V588A)
Ref Sequence ENSEMBL: ENSMUSP00000130728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000631] [ENSMUST00000171427]
AlphaFold Q5NCH9
Predicted Effect possibly damaging
Transcript: ENSMUST00000000631
AA Change: V588A

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000000631
Gene: ENSMUSG00000000617
AA Change: V588A

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 possibly damaging
Transcript: ENSMUST00000171427
AA Change: V588A

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130728
Gene: ENSMUSG00000000617
AA Change: V588A

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 0.1833 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,328,504 (GRCm39) C3526S probably damaging Het
Adgrf2 T C 17: 43,021,774 (GRCm39) N350S probably benign Het
Atp12a G A 14: 56,624,439 (GRCm39) probably null Het
AW551984 T G 9: 39,511,955 (GRCm39) S19R probably damaging Het
Bet1l A G 7: 140,434,418 (GRCm39) I77T possibly damaging Het
Cfap206 T C 4: 34,711,414 (GRCm39) I494M possibly damaging Het
Cog3 A G 14: 75,968,118 (GRCm39) I415T probably damaging Het
Col15a1 C T 4: 47,300,518 (GRCm39) P1060S probably damaging Het
Ctrb1 A G 8: 112,415,981 (GRCm39) V71A possibly damaging Het
Ddhd2 T C 8: 26,242,242 (GRCm39) Y211C probably benign Het
Fbxl20 T C 11: 98,000,336 (GRCm39) T128A probably benign Het
Fdps A G 3: 89,002,659 (GRCm39) probably null Het
Gm4302 TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA 10: 100,177,361 (GRCm39) probably benign Het
Gm8369 T A 19: 11,489,200 (GRCm39) probably benign Het
Heatr6 T C 11: 83,649,167 (GRCm39) L174S probably benign Het
Kif1a G A 1: 92,993,859 (GRCm39) P364S probably damaging Het
Klk7 A G 7: 43,462,684 (GRCm39) D163G probably benign Het
Kmt2e TGCCGCCGCCGCCGCCACCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC 5: 23,704,474 (GRCm39) probably benign Het
Lamb3 T C 1: 193,017,169 (GRCm39) S787P possibly damaging Het
Lrp5 C T 19: 3,650,753 (GRCm39) C1227Y probably damaging Het
Mgst1 G A 6: 138,118,805 (GRCm39) probably benign Het
Mllt6 T C 11: 97,571,428 (GRCm39) S1022P probably damaging Het
Mtmr2 T C 9: 13,716,678 (GRCm39) I521T probably benign Het
Naalad2 T C 9: 18,296,426 (GRCm39) T75A possibly damaging Het
Nadsyn1 A T 7: 143,372,845 (GRCm39) I83N probably damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Neurl4 T A 11: 69,799,336 (GRCm39) L904Q probably damaging Het
Ngp A C 9: 110,249,017 (GRCm39) I30L probably benign Het
Or5af1 T C 11: 58,722,903 (GRCm39) Y308H probably benign Het
Or6c5c G A 10: 129,299,023 (GRCm39) M159I probably benign Het
Orm2 A T 4: 63,282,196 (GRCm39) M125L probably benign Het
Pax2 A T 19: 44,777,260 (GRCm39) D151V possibly damaging Het
Polg A G 7: 79,109,857 (GRCm39) V382A probably benign Het
Ppargc1b C A 18: 61,440,747 (GRCm39) G724W probably damaging Het
Pramel11 T A 4: 143,622,252 (GRCm39) I368F probably benign Het
Prss16 A T 13: 22,190,237 (GRCm39) V307E probably damaging Het
Prss54 T G 8: 96,291,283 (GRCm39) probably null Het
Rspo1 A G 4: 124,900,976 (GRCm39) H108R probably benign Het
Sh3bp5l C A 11: 58,237,098 (GRCm39) H352N probably damaging Het
Skor1 T C 9: 63,047,636 (GRCm39) probably null Het
Smad6 A G 9: 63,919,509 (GRCm39) Y289H probably benign Het
Spart G A 3: 55,034,982 (GRCm39) G456D probably damaging Het
Spg11 T C 2: 121,923,924 (GRCm39) E799G probably damaging Het
Tbc1d4 T G 14: 101,845,695 (GRCm39) K68Q probably damaging Het
Treml2 A G 17: 48,616,247 (GRCm39) M296V probably benign Het
Ugt2b1 C A 5: 87,067,116 (GRCm39) D436Y probably damaging Het
Usp9y A T Y: 1,325,042 (GRCm39) probably null Homo
Vmn2r6 T C 3: 64,445,580 (GRCm39) Y626C probably damaging Het
Xpc G A 6: 91,483,839 (GRCm39) A169V probably benign Het
Zfp131 A G 13: 120,228,129 (GRCm39) V506A probably damaging Het
Zfp74 A G 7: 29,633,860 (GRCm39) I616T probably benign 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
R4486:Grm6 UTSW 11 50,750,816 (GRCm39) missense probably damaging 0.99
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
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'- TGGAAGCTCTACAGTGGTCAGG -3'
(R):5'- AGTCTTCGGGAAGCACAGAC -3'

Sequencing Primer
(F):5'- ATGAGGTGCCCCCTTCTCAATG -3'
(R):5'- CACAGACGGCTGCACAAGG -3'
Posted On 2018-08-29