Incidental Mutation 'IGL01305:Grm6'
ID 73408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grm6
Ensembl Gene ENSMUSG00000000617
Gene Name glutamate receptor, metabotropic 6
Synonyms nob3, mGluR6, nerg1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01305
Quality Score
Status
Chromosome 11
Chromosomal Location 50741512-50757035 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50750346 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 503 (D503V)
Ref Sequence ENSEMBL: ENSMUSP00000130728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000631] [ENSMUST00000171427]
AlphaFold Q5NCH9
Predicted Effect probably benign
Transcript: ENSMUST00000000631
AA Change: D503V

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000000631
Gene: ENSMUSG00000000617
AA Change: D503V

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 benign
Transcript: ENSMUST00000171427
AA Change: D503V

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130728
Gene: ENSMUSG00000000617
AA Change: D503V

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
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. [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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,797,915 (GRCm39) E663G possibly damaging Het
Adam29 T A 8: 56,324,879 (GRCm39) H525L probably benign Het
Adamts6 T A 13: 104,526,590 (GRCm39) V506E probably damaging Het
Ankfy1 G A 11: 72,655,617 (GRCm39) E1101K probably damaging Het
Arap3 C T 18: 38,124,380 (GRCm39) probably null Het
Asxl3 T A 18: 22,649,503 (GRCm39) H497Q probably benign Het
Caln1 A G 5: 130,698,392 (GRCm39) E96G probably damaging Het
Cdh23 T C 10: 60,148,403 (GRCm39) T2653A probably damaging Het
Cdk5rap2 T A 4: 70,298,472 (GRCm39) I87F possibly damaging Het
Chi3l1 A G 1: 134,110,554 (GRCm39) probably benign Het
Col27a1 A G 4: 63,218,978 (GRCm39) probably benign Het
Crybg3 T A 16: 59,349,590 (GRCm39) H934L probably damaging Het
Cyp2d22 G A 15: 82,255,869 (GRCm39) T461I probably damaging Het
Dhcr24 T C 4: 106,429,475 (GRCm39) F183L possibly damaging Het
Dnajc13 T C 9: 104,107,836 (GRCm39) probably null Het
Dusp16 A T 6: 134,695,824 (GRCm39) S336T probably benign Het
F930017D23Rik T G 10: 43,480,371 (GRCm39) noncoding transcript Het
Fasl A G 1: 161,609,407 (GRCm39) V193A probably damaging Het
Fgf5 T C 5: 98,423,175 (GRCm39) Y187H probably damaging Het
Focad C A 4: 88,311,784 (GRCm39) Q1423K probably benign Het
Gabrp T C 11: 33,505,055 (GRCm39) T249A probably damaging Het
Galnt5 A T 2: 57,915,354 (GRCm39) K637* probably null Het
Gm20479 G A 7: 27,056,812 (GRCm39) R2525* probably null Het
Hmg20a A T 9: 56,394,934 (GRCm39) D216V probably damaging Het
Lyst C T 13: 13,852,641 (GRCm39) R2214C probably benign Het
Micu2 T A 14: 58,181,082 (GRCm39) D184V probably damaging Het
Nabp2 T A 10: 128,244,631 (GRCm39) I52F probably damaging Het
Nat8f7 A T 6: 85,684,570 (GRCm39) L90* probably null Het
Or2z2 A T 11: 58,346,088 (GRCm39) M229K probably damaging Het
Or4k47 T C 2: 111,451,546 (GRCm39) N291S probably damaging Het
Pphln1 A G 15: 93,386,985 (GRCm39) E273G probably damaging Het
Ppil1 C A 17: 29,482,862 (GRCm39) V14F possibly damaging Het
Relt A T 7: 100,500,905 (GRCm39) L28Q probably damaging Het
Rpl21 A G 5: 146,770,996 (GRCm39) probably benign Het
Rrp36 A T 17: 46,979,017 (GRCm39) probably benign Het
Skic8 C A 9: 54,635,470 (GRCm39) V44L probably damaging Het
St8sia5 G A 18: 77,342,358 (GRCm39) G320D probably damaging Het
Taf2 T C 15: 54,911,670 (GRCm39) E582G probably damaging Het
Tas2r116 T A 6: 132,832,406 (GRCm39) N2K probably benign Het
Tmem168 A T 6: 13,583,045 (GRCm39) V612E probably damaging Het
Unc79 A G 12: 102,968,130 (GRCm39) S119G probably damaging Het
Washc5 T A 15: 59,227,688 (GRCm39) K425* probably null Het
Wtap G T 17: 13,186,782 (GRCm39) T255K probably benign Het
Zfp148 T C 16: 33,277,313 (GRCm39) V134A probably benign Het
Other mutations in Grm6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Grm6 APN 11 50,754,124 (GRCm39) splice site probably benign
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
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
Posted On 2013-10-07