Incidental Mutation 'R2266:Grid2ip'
ID 242025
Institutional Source Beutler Lab
Gene Symbol Grid2ip
Ensembl Gene ENSMUSG00000010825
Gene Name glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1
Synonyms delphilin
MMRRC Submission 040266-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R2266 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 143343085-143377534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 143371847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 690 (P690L)
Ref Sequence ENSEMBL: ENSMUSP00000010969 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010969] [ENSMUST00000110733] [ENSMUST00000120825]
AlphaFold Q0QWG9
Predicted Effect probably benign
Transcript: ENSMUST00000010969
AA Change: P690L

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000010969
Gene: ENSMUSG00000010825
AA Change: P690L

DomainStartEndE-ValueType
low complexity region 30 55 N/A INTRINSIC
low complexity region 57 73 N/A INTRINSIC
low complexity region 78 92 N/A INTRINSIC
PDZ 97 166 9.5e-16 SMART
low complexity region 256 272 N/A INTRINSIC
low complexity region 284 304 N/A INTRINSIC
low complexity region 429 446 N/A INTRINSIC
low complexity region 464 478 N/A INTRINSIC
low complexity region 536 584 N/A INTRINSIC
low complexity region 607 625 N/A INTRINSIC
FH2 633 1022 1.39e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110733
AA Change: P869L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000106361
Gene: ENSMUSG00000010825
AA Change: P869L

DomainStartEndE-ValueType
PDZ 10 80 1.13e-13 SMART
low complexity region 98 109 N/A INTRINSIC
low complexity region 209 234 N/A INTRINSIC
low complexity region 236 252 N/A INTRINSIC
low complexity region 257 271 N/A INTRINSIC
PDZ 276 345 9.5e-16 SMART
low complexity region 435 451 N/A INTRINSIC
low complexity region 463 483 N/A INTRINSIC
low complexity region 608 625 N/A INTRINSIC
low complexity region 643 657 N/A INTRINSIC
low complexity region 715 763 N/A INTRINSIC
low complexity region 786 804 N/A INTRINSIC
FH2 812 1201 1.39e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120825
AA Change: P697L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113443
Gene: ENSMUSG00000010825
AA Change: P697L

DomainStartEndE-ValueType
low complexity region 37 62 N/A INTRINSIC
low complexity region 64 80 N/A INTRINSIC
low complexity region 85 99 N/A INTRINSIC
PDZ 104 173 9.5e-16 SMART
low complexity region 263 279 N/A INTRINSIC
low complexity region 291 311 N/A INTRINSIC
low complexity region 436 453 N/A INTRINSIC
low complexity region 471 485 N/A INTRINSIC
low complexity region 543 591 N/A INTRINSIC
low complexity region 614 632 N/A INTRINSIC
FH2 640 1029 1.39e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176473
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glutamate receptor delta-2 (GRID2; MIM 602368) is predominantly expressed at parallel fiber-Purkinje cell postsynapses and plays crucial roles in synaptogenesis and synaptic plasticity. GRID2IP1 interacts with GRID2 and may control GRID2 signaling in Purkinje cells (Matsuda et al., 2006 [PubMed 16835239]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display facilitated long-term depression induction at parallel fiber-Purkinje cell synapses as well as enhanced optokinetic response adaptation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,944,737 (GRCm39) D136E probably damaging Het
Agrn C T 4: 156,263,675 (GRCm39) G173R probably damaging Het
Apob T C 12: 8,065,475 (GRCm39) F4115S possibly damaging Het
Bsn T A 9: 107,992,323 (GRCm39) D1143V probably damaging Het
Cacna2d2 T C 9: 107,390,479 (GRCm39) V317A probably damaging Het
Cdh1 G A 8: 107,388,635 (GRCm39) V564I probably benign Het
Cep250 T C 2: 155,818,090 (GRCm39) V814A probably benign Het
Ces2a A T 8: 105,466,822 (GRCm39) I65F probably benign Het
Commd8 A G 5: 72,322,765 (GRCm39) W51R probably damaging Het
Cyb561d1 A T 3: 108,106,720 (GRCm39) H166Q probably damaging Het
Dcun1d4 T A 5: 73,638,618 (GRCm39) probably benign Het
Dgkd A G 1: 87,855,540 (GRCm39) probably benign Het
Dipk2b A G X: 18,289,926 (GRCm39) S179P possibly damaging Het
Dnajc28 T C 16: 91,413,200 (GRCm39) N372S probably benign Het
Ecpas A T 4: 58,830,332 (GRCm39) probably null Het
Eid1 A G 2: 125,515,344 (GRCm39) D78G possibly damaging Het
Emid1 T A 11: 5,094,331 (GRCm39) Q60L probably damaging Het
Fam135a A T 1: 24,067,878 (GRCm39) V801E probably benign Het
Foxh1 A G 15: 76,552,820 (GRCm39) V298A probably benign Het
Foxn4 T C 5: 114,393,662 (GRCm39) T486A probably damaging Het
Gpc6 A T 14: 118,125,932 (GRCm39) probably null Het
H2bc9 T C 13: 23,727,162 (GRCm39) K121E possibly damaging Het
Hdhd2 C T 18: 77,052,866 (GRCm39) T172M probably benign Het
Hr A T 14: 70,795,547 (GRCm39) D393V probably benign Het
Ido2 T C 8: 25,025,268 (GRCm39) Y253C probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klra10 A G 6: 130,246,264 (GRCm39) V237A probably benign Het
Klre1 A G 6: 129,562,593 (GRCm39) K206R probably benign Het
Lama2 T C 10: 26,862,793 (GRCm39) D2990G probably benign Het
Magi3 G A 3: 103,928,382 (GRCm39) probably benign Het
Mamdc2 A T 19: 23,281,267 (GRCm39) probably benign Het
Med23 T G 10: 24,750,499 (GRCm39) S109A probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mtss2 A G 8: 111,455,362 (GRCm39) K92E possibly damaging Het
Mybphl A G 3: 108,272,317 (GRCm39) E2G probably damaging Het
Naip6 A G 13: 100,420,067 (GRCm39) V1401A possibly damaging Het
Ncapg2 A G 12: 116,393,296 (GRCm39) E500G probably damaging Het
Nlrp12 T C 7: 3,282,575 (GRCm39) I775V probably benign Het
Nr4a2 T A 2: 57,002,018 (GRCm39) D145V possibly damaging Het
Ntmt1 C A 2: 30,710,472 (GRCm39) N58K probably benign Het
P2ry13 T C 3: 59,117,449 (GRCm39) M110V probably damaging Het
P2ry14 T C 3: 59,022,992 (GRCm39) N165S probably damaging Het
Plch2 T C 4: 155,077,461 (GRCm39) E423G probably benign Het
Polq C A 16: 36,882,515 (GRCm39) Q1560K possibly damaging Het
Prrc1 G T 18: 57,514,718 (GRCm39) D312Y probably damaging Het
Ptprm A T 17: 67,032,846 (GRCm39) probably null Het
Ripk2 A T 4: 16,152,011 (GRCm39) S183T possibly damaging Het
Robo1 T A 16: 72,775,660 (GRCm39) F728L probably benign Het
Rttn A G 18: 89,082,295 (GRCm39) N1407S probably benign Het
Sec14l1 A T 11: 117,047,314 (GRCm39) H664L probably damaging Het
Slc10a7 G A 8: 79,236,264 (GRCm39) G21S probably benign Het
Slc35a3 T C 3: 116,467,285 (GRCm39) K325E possibly damaging Het
Spag17 C A 3: 99,969,182 (GRCm39) probably null Het
Spesp1 A T 9: 62,180,834 (GRCm39) L25M probably damaging Het
St6galnac1 G A 11: 116,658,673 (GRCm39) Q264* probably null Het
Tbc1d14 A G 5: 36,700,561 (GRCm39) L269P possibly damaging Het
Tgfbr3l A G 8: 4,300,506 (GRCm39) E228G probably benign Het
Tlr5 T A 1: 182,802,600 (GRCm39) S635T possibly damaging Het
Tmem233 G C 5: 116,189,517 (GRCm39) probably benign Het
Tnfsf13b A T 8: 10,057,306 (GRCm39) R125S probably benign Het
Tymp A T 15: 89,258,011 (GRCm39) V378D probably damaging Het
Vmn1r38 G T 6: 66,753,433 (GRCm39) Q228K probably benign Het
Vmn2r18 T C 5: 151,510,127 (GRCm39) E82G probably damaging Het
Vps13c T C 9: 67,828,229 (GRCm39) V1461A possibly damaging Het
Xrn1 A G 9: 95,888,765 (GRCm39) D948G possibly damaging Het
Zfp280d C A 9: 72,209,052 (GRCm39) probably benign Het
Zfp418 G A 7: 7,185,807 (GRCm39) R590K probably benign Het
Other mutations in Grid2ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02271:Grid2ip APN 5 143,374,664 (GRCm39) missense probably benign
IGL02894:Grid2ip APN 5 143,376,863 (GRCm39) missense probably benign 0.04
R0024:Grid2ip UTSW 5 143,376,796 (GRCm39) missense probably damaging 1.00
R0355:Grid2ip UTSW 5 143,343,652 (GRCm39) missense probably benign 0.10
R0403:Grid2ip UTSW 5 143,343,375 (GRCm39) missense possibly damaging 0.84
R0523:Grid2ip UTSW 5 143,358,798 (GRCm39) missense possibly damaging 0.85
R0605:Grid2ip UTSW 5 143,365,117 (GRCm39) missense probably damaging 0.99
R0664:Grid2ip UTSW 5 143,349,732 (GRCm39) critical splice donor site probably null
R1116:Grid2ip UTSW 5 143,368,669 (GRCm39) missense possibly damaging 0.96
R1251:Grid2ip UTSW 5 143,371,770 (GRCm39) missense possibly damaging 0.69
R1381:Grid2ip UTSW 5 143,348,406 (GRCm39) missense probably benign 0.00
R1384:Grid2ip UTSW 5 143,371,851 (GRCm39) critical splice donor site probably null
R1477:Grid2ip UTSW 5 143,361,340 (GRCm39) missense probably damaging 1.00
R2267:Grid2ip UTSW 5 143,371,847 (GRCm39) missense probably benign 0.01
R2304:Grid2ip UTSW 5 143,373,595 (GRCm39) missense probably damaging 1.00
R2871:Grid2ip UTSW 5 143,343,684 (GRCm39) missense probably benign
R2871:Grid2ip UTSW 5 143,343,684 (GRCm39) missense probably benign
R2873:Grid2ip UTSW 5 143,343,684 (GRCm39) missense probably benign
R2874:Grid2ip UTSW 5 143,343,684 (GRCm39) missense probably benign
R3196:Grid2ip UTSW 5 143,373,933 (GRCm39) missense probably damaging 0.99
R3622:Grid2ip UTSW 5 143,371,774 (GRCm39) missense probably damaging 1.00
R3930:Grid2ip UTSW 5 143,371,794 (GRCm39) missense probably damaging 1.00
R4628:Grid2ip UTSW 5 143,368,630 (GRCm39) missense probably damaging 1.00
R4696:Grid2ip UTSW 5 143,377,131 (GRCm39) intron probably benign
R4709:Grid2ip UTSW 5 143,374,658 (GRCm39) missense probably damaging 1.00
R4772:Grid2ip UTSW 5 143,361,455 (GRCm39) missense possibly damaging 0.91
R4838:Grid2ip UTSW 5 143,374,530 (GRCm39) nonsense probably null
R4857:Grid2ip UTSW 5 143,368,384 (GRCm39) missense probably damaging 1.00
R5243:Grid2ip UTSW 5 143,363,260 (GRCm39) missense probably damaging 1.00
R5894:Grid2ip UTSW 5 143,374,666 (GRCm39) missense probably damaging 1.00
R6014:Grid2ip UTSW 5 143,373,578 (GRCm39) missense possibly damaging 0.84
R6076:Grid2ip UTSW 5 143,373,130 (GRCm39) missense probably benign 0.17
R6209:Grid2ip UTSW 5 143,366,184 (GRCm39) missense probably damaging 1.00
R6257:Grid2ip UTSW 5 143,366,184 (GRCm39) missense probably damaging 1.00
R6274:Grid2ip UTSW 5 143,366,184 (GRCm39) missense probably damaging 1.00
R6439:Grid2ip UTSW 5 143,359,257 (GRCm39) missense probably damaging 0.99
R7098:Grid2ip UTSW 5 143,343,346 (GRCm39) missense probably damaging 0.97
R7405:Grid2ip UTSW 5 143,366,199 (GRCm39) missense probably benign 0.03
R7652:Grid2ip UTSW 5 143,368,393 (GRCm39) missense probably damaging 1.00
R8259:Grid2ip UTSW 5 143,348,344 (GRCm39) missense probably benign 0.20
R8261:Grid2ip UTSW 5 143,367,695 (GRCm39) critical splice donor site probably null
R8350:Grid2ip UTSW 5 143,363,273 (GRCm39) missense probably damaging 1.00
R8391:Grid2ip UTSW 5 143,365,951 (GRCm39) missense probably damaging 0.98
R8450:Grid2ip UTSW 5 143,363,273 (GRCm39) missense probably damaging 1.00
R8793:Grid2ip UTSW 5 143,363,396 (GRCm39) missense probably damaging 1.00
R8851:Grid2ip UTSW 5 143,348,352 (GRCm39) missense possibly damaging 0.94
R8944:Grid2ip UTSW 5 143,366,260 (GRCm39) critical splice donor site probably null
R9022:Grid2ip UTSW 5 143,366,204 (GRCm39) missense probably benign 0.02
R9227:Grid2ip UTSW 5 143,359,194 (GRCm39) missense probably damaging 0.99
R9230:Grid2ip UTSW 5 143,359,194 (GRCm39) missense probably damaging 0.99
R9382:Grid2ip UTSW 5 143,361,103 (GRCm39) critical splice donor site probably null
R9425:Grid2ip UTSW 5 143,367,435 (GRCm39) missense
X0010:Grid2ip UTSW 5 143,343,633 (GRCm39) missense probably benign 0.01
X0012:Grid2ip UTSW 5 143,348,394 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- CTGGGCCCTATCTCTTTGGG -3'
(R):5'- ATCCTACCATGGCTTTGTGAC -3'

Sequencing Primer
(F):5'- GGGTCCTCAGGATGAATCTCAG -3'
(R):5'- GTGACTTGGTGCAAACTACCTAGC -3'
Posted On 2014-10-16