Incidental Mutation 'IGL01712:Grid2'
ID104815
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grid2
Ensembl Gene ENSMUSG00000071424
Gene Nameglutamate receptor, ionotropic, delta 2
SynonymsGluRdelta2, tpr, B230104L07Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01712
Quality Score
Status
Chromosome6
Chromosomal Location63255876-64704323 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 64665915 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 887 (D887V)
Ref Sequence ENSEMBL: ENSMUSP00000093536 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095852] [ENSMUST00000210324]
Predicted Effect possibly damaging
Transcript: ENSMUST00000095852
AA Change: D887V

PolyPhen 2 Score 0.727 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000093536
Gene: ENSMUSG00000071424
AA Change: D887V

DomainStartEndE-ValueType
Pfam:ANF_receptor 39 404 4.1e-41 PFAM
PBPe 442 807 5.98e-108 SMART
Lig_chan-Glu_bd 452 514 3.76e-24 SMART
transmembrane domain 830 852 N/A INTRINSIC
low complexity region 945 956 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000210324
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the family of ionotropic glutamate receptors which are the predominant excitatory neurotransmitter receptors in the mammalian brain. The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells. A point mutation in the mouse ortholog, associated with the phenotype named 'lurcher', in the heterozygous state leads to ataxia resulting from selective, cell-autonomous apoptosis of cerebellar Purkinje cells during postnatal development. Mice homozygous for this mutation die shortly after birth from massive loss of mid- and hindbrain neurons during late embryogenesis. This protein also plays a role in synapse organization between parallel fibers and Purkinje cells. Alternate splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause cerebellar ataxia in humans. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygotes for multiple spontaneous and targeted null mutations exhibit ataxia and impaired locomotion associated with cerebellar Purkinje cell abnormalities and loss, and on some backgrounds, male infertility due to lack of zona penetration by sperm. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,826,279 V161A probably benign Het
Arhgdib G A 6: 136,924,197 T178M probably damaging Het
Atp11a T A 8: 12,851,138 I989K probably benign Het
Bcam T C 7: 19,758,767 S498G probably damaging Het
Bcas3 A G 11: 85,581,048 I728V probably damaging Het
Cep57 G T 9: 13,813,417 P119Q possibly damaging Het
Clip4 T A 17: 71,799,041 I73N probably damaging Het
Cpa4 A G 6: 30,590,816 D371G possibly damaging Het
Dnah7a A G 1: 53,423,270 S3721P probably benign Het
Fam166a T C 2: 25,218,792 probably benign Het
Fcrla T C 1: 170,921,623 probably null Het
Foxg1 T C 12: 49,385,620 S379P possibly damaging Het
Gatm T A 2: 122,600,825 Y227F possibly damaging Het
Gm8298 T A 3: 59,868,900 I164N possibly damaging Het
Gtpbp6 A T 5: 110,104,379 I429N probably benign Het
Ighmbp2 A G 19: 3,273,038 probably benign Het
Irs4 T C X: 141,722,399 N934D unknown Het
Kif16b T A 2: 142,648,471 N1257I probably damaging Het
L1cam T C X: 73,864,438 Y169C probably damaging Het
L3mbtl3 A T 10: 26,276,235 M821K probably damaging Het
Lig3 A G 11: 82,789,541 probably benign Het
Lpin2 T A 17: 71,215,068 D32E probably damaging Het
Mcoln3 T C 3: 146,128,264 probably benign Het
Mgst2 T C 3: 51,664,571 V40A probably damaging Het
Mov10l1 T C 15: 89,024,766 S997P probably damaging Het
Mycbpap G T 11: 94,512,655 H187Q possibly damaging Het
Olfr136 A T 17: 38,335,957 T267S probably benign Het
Olfr652 T C 7: 104,565,019 V266A probably benign Het
Onecut2 T A 18: 64,386,602 S478T probably damaging Het
Pcdhb5 A T 18: 37,321,253 I229F probably damaging Het
Pfas A G 11: 68,991,060 V933A probably benign Het
Phldb2 A T 16: 45,751,429 I1200N probably damaging Het
Pla2g4e C A 2: 120,189,403 probably null Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Rhot2 A G 17: 25,841,360 probably null Het
Serpina3f C T 12: 104,218,398 P267L probably damaging Het
Sppl2a C T 2: 126,904,903 probably benign Het
Tas2r122 A T 6: 132,711,762 M56K possibly damaging Het
Tbxas1 A G 6: 39,081,060 T450A probably benign Het
Tex16 T C X: 112,093,754 S87P probably damaging Het
Them7 T A 2: 105,378,885 F183L possibly damaging Het
Tmbim7 A G 5: 3,670,074 T116A probably damaging Het
Tomm40 G T 7: 19,703,363 S224R probably benign Het
Top3a A T 11: 60,761,736 I84N probably damaging Het
Vmn1r28 A G 6: 58,265,408 T79A probably benign Het
Vmn2r61 A T 7: 42,260,237 Y62F probably damaging Het
Zbtb42 T C 12: 112,680,284 C298R probably benign Het
Zfp395 G A 14: 65,386,387 E102K probably damaging Het
Other mutations in Grid2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Grid2 APN 6 64345589 missense probably damaging 1.00
IGL00596:Grid2 APN 6 64533704 missense possibly damaging 0.93
IGL01686:Grid2 APN 6 64320196 missense probably benign 0.00
IGL02064:Grid2 APN 6 64063935 missense probably benign 0.29
IGL02216:Grid2 APN 6 64345666 missense probably damaging 0.96
IGL02563:Grid2 APN 6 64345873 missense possibly damaging 0.94
IGL02685:Grid2 APN 6 64345816 missense possibly damaging 0.50
IGL03129:Grid2 APN 6 64063904 missense probably damaging 0.98
IGL03324:Grid2 APN 6 64429822 missense possibly damaging 0.88
IGL03395:Grid2 APN 6 63909069 missense possibly damaging 0.94
crawler UTSW 6 64429694 nonsense probably null
swagger UTSW 6 64395280 synonymous probably benign
R0133:Grid2 UTSW 6 64320132 missense probably damaging 1.00
R0147:Grid2 UTSW 6 64533587 missense probably benign
R0193:Grid2 UTSW 6 64063953 missense possibly damaging 0.64
R0370:Grid2 UTSW 6 64345734 missense possibly damaging 0.75
R0399:Grid2 UTSW 6 64666052 missense probably benign 0.33
R0600:Grid2 UTSW 6 63503435 missense probably benign 0.38
R0717:Grid2 UTSW 6 64666275 missense possibly damaging 0.96
R1524:Grid2 UTSW 6 64429754 missense possibly damaging 0.92
R1555:Grid2 UTSW 6 64429684 missense possibly damaging 0.87
R1572:Grid2 UTSW 6 64429694 nonsense probably null
R1762:Grid2 UTSW 6 64533654 missense probably damaging 0.98
R1944:Grid2 UTSW 6 63909061 missense probably damaging 1.00
R1961:Grid2 UTSW 6 63908893 missense probably damaging 1.00
R1969:Grid2 UTSW 6 63908918 nonsense probably null
R2138:Grid2 UTSW 6 64345798 missense probably damaging 0.99
R3500:Grid2 UTSW 6 63503399 missense probably damaging 0.97
R3547:Grid2 UTSW 6 64320021 missense probably damaging 0.97
R3845:Grid2 UTSW 6 64345842 missense possibly damaging 0.62
R4124:Grid2 UTSW 6 63503433 missense probably benign 0.41
R4273:Grid2 UTSW 6 63909045 missense probably damaging 1.00
R4591:Grid2 UTSW 6 64320102 missense probably damaging 1.00
R4701:Grid2 UTSW 6 64665915 missense probably benign 0.27
R4721:Grid2 UTSW 6 64666201 missense probably benign 0.33
R4755:Grid2 UTSW 6 63908988 missense probably benign 0.04
R4869:Grid2 UTSW 6 64429740 missense probably damaging 1.00
R5083:Grid2 UTSW 6 64320152 nonsense probably null
R5091:Grid2 UTSW 6 64076878 missense probably benign 0.07
R5117:Grid2 UTSW 6 63256933 missense probably benign 0.15
R5128:Grid2 UTSW 6 64665998 missense probably benign 0.01
R5386:Grid2 UTSW 6 63931105 missense probably damaging 0.99
R5404:Grid2 UTSW 6 63930910 missense probably damaging 0.99
R5534:Grid2 UTSW 6 63503361 missense probably benign
R5626:Grid2 UTSW 6 64076945 critical splice donor site probably null
R5699:Grid2 UTSW 6 63908991 missense probably damaging 0.99
R5700:Grid2 UTSW 6 64094432 missense possibly damaging 0.95
R5876:Grid2 UTSW 6 64663162 missense probably damaging 1.00
R6446:Grid2 UTSW 6 64345593 missense probably damaging 1.00
R6694:Grid2 UTSW 6 63931047 missense possibly damaging 0.92
R6697:Grid2 UTSW 6 63931047 missense possibly damaging 0.92
R6699:Grid2 UTSW 6 63931047 missense possibly damaging 0.92
R6767:Grid2 UTSW 6 63931015 missense probably benign 0.01
R6895:Grid2 UTSW 6 64395299 missense probably damaging 0.99
R6999:Grid2 UTSW 6 64076909 missense possibly damaging 0.80
R7053:Grid2 UTSW 6 64700418 missense unknown
R7126:Grid2 UTSW 6 64076810 missense probably damaging 0.99
R7432:Grid2 UTSW 6 64275870 missense possibly damaging 0.46
R7553:Grid2 UTSW 6 64076941 missense possibly damaging 0.95
R7619:Grid2 UTSW 6 63931101 missense possibly damaging 0.71
R7997:Grid2 UTSW 6 64320136 missense possibly damaging 0.89
Z1176:Grid2 UTSW 6 63908879 missense possibly damaging 0.76
Z1176:Grid2 UTSW 6 64663228 missense probably benign 0.03
Z1177:Grid2 UTSW 6 64345856 nonsense probably null
Z1177:Grid2 UTSW 6 64345857 missense probably damaging 1.00
Posted On2014-01-21