Incidental Mutation 'R4696:Grid2ip'
ID 355688
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 041946-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R4696 (G1)
Quality Score 92
Status Validated
Chromosome 5
Chromosomal Location 143343085-143377534 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 143377131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010969] [ENSMUST00000110733] [ENSMUST00000120825]
AlphaFold Q0QWG9
Predicted Effect probably benign
Transcript: ENSMUST00000010969
SMART Domains Protein: ENSMUSP00000010969
Gene: ENSMUSG00000010825

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
SMART Domains Protein: ENSMUSP00000106361
Gene: ENSMUSG00000010825

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
SMART Domains Protein: ENSMUSP00000113443
Gene: ENSMUSG00000010825

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198312
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 99% (74/75)
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
Abcc3 T C 11: 94,241,817 (GRCm39) S1405G probably benign Het
Acaca T C 11: 84,171,261 (GRCm39) V1165A possibly damaging Het
Acin1 C A 14: 54,880,474 (GRCm39) probably benign Het
Akr1b8 G A 6: 34,340,312 (GRCm39) V159I probably benign Het
Alms1 T C 6: 85,597,504 (GRCm39) Y777H probably damaging Het
Cblc C A 7: 19,530,407 (GRCm39) G101C probably damaging Het
Cdc42ep5 G A 7: 4,154,614 (GRCm39) P58L possibly damaging Het
Cic A G 7: 24,987,908 (GRCm39) N1532S probably benign Het
Cipc T A 12: 86,999,714 (GRCm39) probably benign Het
Clca4b T C 3: 144,617,146 (GRCm39) I835V probably benign Het
Cntrob C T 11: 69,211,714 (GRCm39) G170D probably damaging Het
Col14a1 A G 15: 55,235,998 (GRCm39) Q304R unknown Het
Csmd3 T C 15: 47,777,364 (GRCm39) T1181A probably benign Het
Dchs1 A G 7: 105,413,834 (GRCm39) F994L probably damaging Het
Ddx42 C A 11: 106,138,529 (GRCm39) A776D probably benign Het
Disp2 G T 2: 118,622,165 (GRCm39) E966* probably null Het
Dmpk A T 7: 18,822,139 (GRCm39) N366Y probably damaging Het
Dmrt1 A G 19: 25,580,674 (GRCm39) Y362C possibly damaging Het
Dock10 C T 1: 80,493,330 (GRCm39) G1880D possibly damaging Het
Dzip1l A G 9: 99,545,664 (GRCm39) R638G possibly damaging Het
Dzip3 T A 16: 48,746,332 (GRCm39) probably benign Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
Eno4 T C 19: 58,934,068 (GRCm39) S90P probably damaging Het
Epn2 C G 11: 61,426,129 (GRCm39) A283P probably damaging Het
Eya3 T A 4: 132,397,543 (GRCm39) Y67* probably null Het
Fat2 T C 11: 55,175,841 (GRCm39) N1624S probably benign Het
Fez1 T A 9: 36,781,766 (GRCm39) probably null Het
Fgfr1 T C 8: 26,053,504 (GRCm39) S260P probably damaging Het
Glb1 A G 9: 114,293,220 (GRCm39) S532G probably benign Het
Gm15455 A T 1: 33,876,874 (GRCm39) noncoding transcript Het
Guca2b C A 4: 119,513,996 (GRCm39) G129V probably damaging Het
Hes3 T C 4: 152,372,124 (GRCm39) E65G probably damaging Het
Itgbl1 T C 14: 124,204,120 (GRCm39) C404R probably damaging Het
Kansl1 C T 11: 104,247,593 (GRCm39) V586I possibly damaging Het
Krt18 A G 15: 101,940,293 (GRCm39) D390G probably benign Het
Laptm5 T C 4: 130,660,982 (GRCm39) probably benign Het
Lgals3bp C T 11: 118,288,977 (GRCm39) E116K probably benign Het
Lrrc39 C T 3: 116,363,769 (GRCm39) S114F probably damaging Het
Mfap3 T C 11: 57,419,117 (GRCm39) probably null Het
Nphp3 A G 9: 103,899,931 (GRCm39) H481R probably benign Het
Ntm T C 9: 29,090,501 (GRCm39) T73A possibly damaging Het
Or5m13b T A 2: 85,749,215 (GRCm39) probably null Het
Or8g4 T A 9: 39,662,024 (GRCm39) M114K probably damaging Het
Pbk G A 14: 66,049,386 (GRCm39) C21Y probably benign Het
Pglyrp1 A G 7: 18,618,871 (GRCm39) E74G probably benign Het
R3hdm1 G T 1: 128,164,503 (GRCm39) probably benign Het
Rap1gds1 T C 3: 138,633,375 (GRCm39) T599A probably damaging Het
Rigi A G 4: 40,203,798 (GRCm39) probably benign Het
Rims1 A T 1: 22,358,836 (GRCm39) M1273K probably damaging Het
Sbf1 G A 15: 89,187,315 (GRCm39) R721* probably null Het
Slc17a1 T C 13: 24,064,700 (GRCm39) I388T probably damaging Het
Sprn A C 7: 139,733,469 (GRCm39) probably benign Het
Tango6 T C 8: 107,426,863 (GRCm39) V459A possibly damaging Het
Tert C T 13: 73,775,939 (GRCm39) T230I probably benign Het
Thada T C 17: 84,733,614 (GRCm39) D1011G possibly damaging Het
Tln2 C T 9: 67,302,743 (GRCm39) R76Q probably damaging Het
Trip11 A T 12: 101,851,549 (GRCm39) N838K possibly damaging Het
Ttn A G 2: 76,597,997 (GRCm39) W19639R probably damaging Het
Ubr4 T A 4: 139,135,983 (GRCm39) S924T probably benign Het
Upb1 A G 10: 75,250,861 (GRCm39) E110G probably benign Het
Vegfa C T 17: 46,339,272 (GRCm39) probably null Het
Vmn1r231 T C 17: 21,110,901 (GRCm39) K5E possibly damaging Het
Vmn2r16 A T 5: 109,487,168 (GRCm39) I130F probably benign Het
Wscd2 T A 5: 113,689,240 (GRCm39) V82E probably benign Het
Zfp462 A G 4: 55,008,612 (GRCm39) T193A probably benign Het
Zfp467 A G 6: 48,416,291 (GRCm39) probably benign Het
Zfp619 T C 7: 39,186,412 (GRCm39) L814P 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
R2266:Grid2ip UTSW 5 143,371,847 (GRCm39) missense probably benign 0.01
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
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'- GGCATCTTTTCAGAATTCATGAGC -3'
(R):5'- CCAAGGTGCATGGTCAAGTAC -3'

Sequencing Primer
(F):5'- TTCATGAGCAAATTTGAGGTGAGCC -3'
(R):5'- TCAAGTACCCTGGACCCTGTG -3'
Posted On 2015-10-21