Incidental Mutation 'IGL02121:Grm6'
ID280635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grm6
Ensembl Gene ENSMUSG00000000617
Gene Nameglutamate receptor, metabotropic 6
Synonymsnerg1, nob2, mGluR6, nob3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02121
Quality Score
Status
Chromosome11
Chromosomal Location50850685-50866208 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 50859656 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 549 (C549S)
Ref Sequence ENSEMBL: ENSMUSP00000130728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000631] [ENSMUST00000171427]
Predicted Effect probably damaging
Transcript: ENSMUST00000000631
AA Change: C549S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000631
Gene: ENSMUSG00000000617
AA Change: C549S

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: C549S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130728
Gene: ENSMUSG00000000617
AA Change: C549S

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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029F12Rik A T 13: 97,022,530 V122D unknown Het
4930579F01Rik T G 3: 138,164,373 Y199S possibly damaging Het
Abca6 T A 11: 110,182,924 I1434F probably benign Het
Acsm1 T C 7: 119,658,412 V467A possibly damaging Het
Alg3 T C 16: 20,606,535 T260A possibly damaging Het
Aoc1 A G 6: 48,906,320 probably null Het
Ap5b1 C T 19: 5,570,787 T745I possibly damaging Het
Atp6v1c2 T G 12: 17,291,440 K272Q possibly damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Clcn7 C T 17: 25,153,084 A426V possibly damaging Het
Clec14a T C 12: 58,268,437 E133G probably damaging Het
Col4a3bp T G 13: 96,599,474 Y181D probably benign Het
Diexf A T 1: 193,118,278 D411E probably benign Het
Dst T A 1: 34,228,657 V2720E probably damaging Het
Efr3a C T 15: 65,871,150 probably benign Het
Fam83g T C 11: 61,684,783 S84P probably benign Het
Gm10436 T C 12: 88,178,472 D28G possibly damaging Het
Gm7251 T C 13: 49,805,906 noncoding transcript Het
Gnptab T G 10: 88,429,461 S312A possibly damaging Het
Grap2 C A 15: 80,647,875 S230R possibly damaging Het
Gtf3c1 A T 7: 125,646,731 L1504* probably null Het
Iars A G 13: 49,724,696 M899V probably benign Het
Il1rl1 T A 1: 40,442,303 probably benign Het
Kcna4 T C 2: 107,296,618 Y566H possibly damaging Het
Kcnn2 T C 18: 45,561,273 I175T probably damaging Het
Kcnt1 C T 2: 25,901,865 T609I probably damaging Het
Kif3b A G 2: 153,317,274 R332G probably damaging Het
Mansc1 T C 6: 134,621,837 D39G probably damaging Het
Med12 T C X: 101,288,342 probably benign Het
Mmp1b G T 9: 7,384,935 T238K probably benign Het
Nav3 A G 10: 109,759,036 S1435P probably damaging Het
Npc1l1 A G 11: 6,228,157 S418P probably benign Het
Olfr125 T C 17: 37,835,941 V314A probably benign Het
Olfr324 T C 11: 58,597,582 V62A possibly damaging Het
Olfr401 A G 11: 74,121,287 probably benign Het
Olfr522 G T 7: 140,162,694 D85E probably benign Het
Olfr628 A G 7: 103,732,469 Y181C probably damaging Het
Olfr648 A C 7: 104,180,225 M61R probably damaging Het
Olfr918 T C 9: 38,673,415 T23A probably damaging Het
Otoa A G 7: 121,122,024 T421A probably benign Het
Otulin G A 15: 27,608,737 A42V probably damaging Het
Pcdhb1 T A 18: 37,265,785 V263E probably benign Het
Pfkfb4 C T 9: 109,025,110 R351W probably damaging Het
Phip A T 9: 82,893,370 V1053D probably damaging Het
Pkd1 G A 17: 24,575,927 R2196H probably benign Het
Plin4 T A 17: 56,102,131 Q1363L probably damaging Het
Pp2d1 C A 17: 53,507,921 V592L probably damaging Het
Prkdc T G 16: 15,717,184 M1649R probably benign Het
Ptk2b T C 14: 66,213,482 K12E probably benign Het
Rars2 G A 4: 34,657,219 V522I probably damaging Het
Rpgrip1 T A 14: 52,147,374 N646K possibly damaging Het
Sars2 A G 7: 28,752,525 probably benign Het
Sgo2b T C 8: 63,931,282 T227A possibly damaging Het
Smc1b T C 15: 85,097,985 T703A probably benign Het
Stk32a G T 18: 43,313,507 D341Y probably benign Het
Thap11 T C 8: 105,855,914 V185A possibly damaging Het
Ttll10 C A 4: 156,048,433 V65F probably benign Het
Ube2q1 T A 3: 89,780,462 N111K possibly damaging Het
Upf2 C A 2: 6,026,323 probably benign Het
Vasp T A 7: 19,257,712 probably benign Het
Vmn2r104 C T 17: 20,041,794 W358* probably null Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Wdfy3 C T 5: 101,898,510 G1826R possibly damaging Het
Wdr7 T A 18: 63,777,545 Y669* probably null Het
Wdr72 T A 9: 74,281,729 probably benign Het
Other mutations in Grm6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00432:Grm6 APN 11 50863297 splice site probably benign
IGL01305:Grm6 APN 11 50859519 missense probably benign 0.27
IGL02413:Grm6 APN 11 50859939 missense probably damaging 0.99
ANU22:Grm6 UTSW 11 50859519 missense probably benign 0.27
R0089:Grm6 UTSW 11 50859965 missense probably damaging 1.00
R0135:Grm6 UTSW 11 50853223 missense probably damaging 0.99
R0147:Grm6 UTSW 11 50859317 missense possibly damaging 0.89
R1498:Grm6 UTSW 11 50857256 missense probably damaging 1.00
R1577:Grm6 UTSW 11 50863145 missense probably damaging 1.00
R1666:Grm6 UTSW 11 50859884 missense probably damaging 1.00
R2923:Grm6 UTSW 11 50864521 missense probably damaging 1.00
R4060:Grm6 UTSW 11 50853224 missense probably damaging 1.00
R4486:Grm6 UTSW 11 50859989 missense probably damaging 0.99
R4488:Grm6 UTSW 11 50859989 missense probably damaging 0.99
R4489:Grm6 UTSW 11 50859989 missense probably damaging 0.99
R4646:Grm6 UTSW 11 50857206 missense probably benign 0.03
R4701:Grm6 UTSW 11 50863010 missense probably damaging 1.00
R4785:Grm6 UTSW 11 50857277 missense probably benign 0.00
R4860:Grm6 UTSW 11 50864612 missense probably benign 0.31
R5603:Grm6 UTSW 11 50856959 missense probably damaging 1.00
R6104:Grm6 UTSW 11 50859317 missense possibly damaging 0.89
R6746:Grm6 UTSW 11 50856963 missense probably damaging 1.00
R6791:Grm6 UTSW 11 50859774 missense possibly damaging 0.74
R6802:Grm6 UTSW 11 50853389 missense probably benign 0.24
R6856:Grm6 UTSW 11 50859825 missense probably damaging 1.00
R7102:Grm6 UTSW 11 50862977 missense possibly damaging 0.87
R7221:Grm6 UTSW 11 50863043 missense probably damaging 0.97
X0025:Grm6 UTSW 11 50863095 missense probably damaging 1.00
Posted On2015-04-16