Incidental Mutation 'IGL02892:Grm7'
ID363208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grm7
Ensembl Gene ENSMUSG00000056755
Gene Nameglutamate receptor, metabotropic 7
SynonymsGpr1g, mGlu7a receptor, mGluR7, E130018M02Rik, 6330570A01Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02892
Quality Score
Status
Chromosome6
Chromosomal Location110645581-111567230 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 111254020 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 468 (N468S)
Ref Sequence ENSEMBL: ENSMUSP00000064404 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071076] [ENSMUST00000172951] [ENSMUST00000174018]
Predicted Effect probably damaging
Transcript: ENSMUST00000071076
AA Change: N468S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064404
Gene: ENSMUSG00000056755
AA Change: N468S

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:ANF_receptor 77 484 3e-108 PFAM
Pfam:Peripla_BP_6 144 371 3e-11 PFAM
Pfam:NCD3G 519 569 1.2e-13 PFAM
Pfam:7tm_3 602 847 5.1e-59 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000172951
AA Change: N468S

PolyPhen 2 Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000133957
Gene: ENSMUSG00000056755
AA Change: N468S

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:ANF_receptor 77 484 1.7e-103 PFAM
Pfam:Peripla_BP_6 144 487 1e-12 PFAM
Pfam:NCD3G 519 569 1.2e-17 PFAM
Pfam:7tm_3 600 848 1.4e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174018
SMART Domains Protein: ENSMUSP00000134635
Gene: ENSMUSG00000056755

DomainStartEndE-ValueType
low complexity region 18 32 N/A INTRINSIC
Pfam:ANF_receptor 77 176 4.9e-20 PFAM
Meta Mutation Damage Score 0.3072 question?
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 it 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 three 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: Nullizygous mice exhibit epilepsy and deficits in fear response and conditioned taste aversion. Homozygotes for a knock-in allele show impaired spatial working memory and higher susceptibility to PTZ. Homozygotes for a reporter allele show impaired coordination and higher susceptibility to metrazol. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 A T 12: 84,604,997 L493* probably null Het
Adam32 T A 8: 24,878,711 probably benign Het
Alpk1 T C 3: 127,680,122 D744G possibly damaging Het
Arhgef12 A G 9: 43,000,972 V530A possibly damaging Het
Baz2b A T 2: 59,900,736 N2095K probably damaging Het
Btnl2 A T 17: 34,362,668 Q240L possibly damaging Het
Cd96 T C 16: 46,049,797 probably null Het
Cep350 G A 1: 155,868,806 T2089I possibly damaging Het
Chd9 T C 8: 90,976,915 probably benign Het
Cib4 C T 5: 30,544,707 probably benign Het
Cilp2 T C 8: 69,884,320 T280A probably benign Het
Coq5 T A 5: 115,294,817 probably benign Het
Cyth3 A G 5: 143,707,437 I339V possibly damaging Het
Dcaf7 T C 11: 106,046,692 V47A possibly damaging Het
Dcdc2c A G 12: 28,535,545 I151T probably benign Het
Defb7 T A 8: 19,497,662 F61Y probably benign Het
Diaph3 T A 14: 86,866,630 K773* probably null Het
Dmxl1 A G 18: 49,859,120 N311S probably damaging Het
Dnah7b G A 1: 46,119,298 R347H possibly damaging Het
Egflam C T 15: 7,289,796 V234I probably benign Het
Emilin3 C T 2: 160,909,149 V180M possibly damaging Het
Fam76b A T 9: 13,828,821 E50V probably null Het
Fat3 A T 9: 16,377,562 Y222N probably damaging Het
Gucy1a2 G T 9: 3,634,471 G172C probably damaging Het
Hmcn1 A C 1: 150,675,974 probably null Het
Hydin G A 8: 110,598,959 V4667M possibly damaging Het
Idh2 T C 7: 80,095,670 S408G probably benign Het
Kcng4 T C 8: 119,633,082 Q185R probably benign Het
Lamp3 A G 16: 19,676,052 V301A probably damaging Het
Lrrc23 T C 6: 124,774,436 N220S probably benign Het
Lrrc41 T A 4: 116,088,835 M249K possibly damaging Het
Ltbp4 T A 7: 27,310,649 D1162V probably damaging Het
Mlh1 T C 9: 111,252,969 I229V probably benign Het
Olfr108 T C 17: 37,446,034 L160P probably damaging Het
Plekhg2 T A 7: 28,362,917 D525V probably damaging Het
Plin4 T C 17: 56,105,108 K641R probably damaging Het
Plxnb2 A G 15: 89,161,222 probably null Het
Polr1a T C 6: 71,931,696 S502P possibly damaging Het
Prss16 A G 13: 22,003,050 V450A probably benign Het
Prss42 G A 9: 110,799,390 V201M probably damaging Het
Pus7 A T 5: 23,754,556 N322K probably damaging Het
Riok1 G T 13: 38,040,065 probably benign Het
Rmdn3 T A 2: 119,154,080 T64S probably benign Het
Rmnd5a T A 6: 71,414,814 M131L probably benign Het
Rtbdn C T 8: 84,955,089 R170C probably damaging Het
Sesn3 T C 9: 14,314,734 probably null Het
Slc2a6 A G 2: 27,024,293 Y271H probably benign Het
Slc5a5 T G 8: 70,892,517 T49P probably damaging Het
Slc7a10 T C 7: 35,195,168 V84A possibly damaging Het
Slc9a4 A G 1: 40,584,044 T148A possibly damaging Het
Smg1 T A 7: 118,167,955 probably benign Het
Snx19 T A 9: 30,428,364 V266E probably damaging Het
Synm T A 7: 67,735,056 I511F probably damaging Het
Tango6 T A 8: 106,742,010 probably benign Het
Tie1 T A 4: 118,486,282 D128V probably damaging Het
Timeless T C 10: 128,244,251 L423P probably damaging Het
Tln1 A G 4: 43,555,679 L145P probably damaging Het
Tmem8 A G 17: 26,119,120 Y466C probably damaging Het
Trp53i13 A T 11: 77,508,295 D376E probably damaging Het
Ubr4 A T 4: 139,417,331 I1484F probably damaging Het
Unc13a C T 8: 71,649,910 V943M probably damaging Het
Usp50 T C 2: 126,769,902 K301R probably damaging Het
Vmn1r62 G T 7: 5,676,203 M294I probably benign Het
Vps39 A G 2: 120,323,171 probably benign Het
Vwa8 T A 14: 79,103,700 probably benign Het
Wdr27 A T 17: 14,876,176 W748R possibly damaging Het
Other mutations in Grm7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01729:Grm7 APN 6 111246184 missense probably benign 0.14
IGL02058:Grm7 APN 6 111358317 missense probably damaging 1.00
IGL02650:Grm7 APN 6 111358958 missense probably damaging 1.00
IGL03074:Grm7 APN 6 111495643 splice site probably null
IGL03185:Grm7 APN 6 110646222 missense possibly damaging 0.84
Appropriated UTSW 6 111495681 missense possibly damaging 0.64
Consumed UTSW 6 111358875 missense probably damaging 1.00
Devoured UTSW 6 111358824 missense probably damaging 1.00
shaky UTSW 6 111495791 nonsense probably null
PIT4651001:Grm7 UTSW 6 110646089 missense probably benign
R0539:Grm7 UTSW 6 111359094 splice site probably benign
R0622:Grm7 UTSW 6 111358496 missense probably damaging 1.00
R1356:Grm7 UTSW 6 111359024 missense probably damaging 1.00
R1762:Grm7 UTSW 6 111358295 missense probably damaging 1.00
R1783:Grm7 UTSW 6 111358295 missense probably damaging 1.00
R1785:Grm7 UTSW 6 111358295 missense probably damaging 1.00
R1816:Grm7 UTSW 6 111495791 nonsense probably null
R1823:Grm7 UTSW 6 111207769 missense probably benign 0.17
R1864:Grm7 UTSW 6 111080423 missense probably benign 0.03
R1894:Grm7 UTSW 6 111358607 missense probably benign
R1987:Grm7 UTSW 6 110914511 missense probably damaging 1.00
R1993:Grm7 UTSW 6 111207808 missense probably benign 0.13
R2138:Grm7 UTSW 6 110646137 missense probably damaging 1.00
R2214:Grm7 UTSW 6 111358997 missense probably damaging 1.00
R2289:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R2296:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R2339:Grm7 UTSW 6 111495681 missense possibly damaging 0.64
R2847:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R2849:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R2879:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R2884:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R2921:Grm7 UTSW 6 111495905 splice site probably null
R2923:Grm7 UTSW 6 111495905 splice site probably null
R3014:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R3015:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R3703:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R3713:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R3963:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R4009:Grm7 UTSW 6 111495722 missense probably damaging 1.00
R4091:Grm7 UTSW 6 110914340 missense probably damaging 1.00
R4131:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R4132:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R4161:Grm7 UTSW 6 111254020 missense probably damaging 0.99
R4329:Grm7 UTSW 6 110914364 missense probably damaging 1.00
R4357:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R4359:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R4379:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R4379:Grm7 UTSW 6 111246374 missense probably benign 0.05
R4380:Grm7 UTSW 6 110646348 missense probably damaging 1.00
R4514:Grm7 UTSW 6 111358304 missense possibly damaging 0.81
R4518:Grm7 UTSW 6 110914546 splice site probably null
R4647:Grm7 UTSW 6 110914383 nonsense probably null
R4714:Grm7 UTSW 6 111080422 missense possibly damaging 0.52
R4775:Grm7 UTSW 6 110914371 missense probably damaging 1.00
R4957:Grm7 UTSW 6 111358863 missense probably damaging 1.00
R5056:Grm7 UTSW 6 111080443 missense probably damaging 0.99
R5062:Grm7 UTSW 6 110646136 missense probably damaging 1.00
R5256:Grm7 UTSW 6 111358221 missense probably benign 0.01
R5431:Grm7 UTSW 6 111358426 missense probably benign
R6026:Grm7 UTSW 6 111501539 nonsense probably null
R6174:Grm7 UTSW 6 111246297 missense probably benign
R6305:Grm7 UTSW 6 111358665 missense probably damaging 1.00
R6318:Grm7 UTSW 6 111358875 missense probably damaging 1.00
R6440:Grm7 UTSW 6 111254020 missense probably damaging 1.00
R6519:Grm7 UTSW 6 111207752 missense probably benign 0.00
R6531:Grm7 UTSW 6 111358425 missense probably benign 0.29
R6888:Grm7 UTSW 6 111358353 missense possibly damaging 0.79
R6949:Grm7 UTSW 6 110646304 missense probably benign 0.03
R6949:Grm7 UTSW 6 111495729 missense probably damaging 1.00
R6989:Grm7 UTSW 6 111207805 missense probably damaging 1.00
R7076:Grm7 UTSW 6 111358152 missense probably benign 0.04
R7203:Grm7 UTSW 6 111358569 missense possibly damaging 0.94
R7208:Grm7 UTSW 6 111358569 missense possibly damaging 0.94
R7217:Grm7 UTSW 6 111358824 missense probably damaging 1.00
R7257:Grm7 UTSW 6 110646118 missense probably damaging 1.00
R7297:Grm7 UTSW 6 110646013 missense probably benign 0.16
R7470:Grm7 UTSW 6 111501515 missense
R7567:Grm7 UTSW 6 111358761 missense probably damaging 0.96
R7806:Grm7 UTSW 6 111246353 nonsense probably null
R8018:Grm7 UTSW 6 111207776 missense probably benign 0.01
R8076:Grm7 UTSW 6 111566039 missense probably damaging 1.00
Z1176:Grm7 UTSW 6 111358149 missense probably benign 0.01
Z1176:Grm7 UTSW 6 111358490 missense probably damaging 1.00
Posted On2015-12-18