Incidental Mutation 'R6076:Grid2ip'
ID 482739
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 044237-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R6076 (G1)
Quality Score 169.009
Status Not validated
Chromosome 5
Chromosomal Location 143343085-143377534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 143373130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 736 (S736T)
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: S736T

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000010969
Gene: ENSMUSG00000010825
AA Change: S736T

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: S915T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106361
Gene: ENSMUSG00000010825
AA Change: S915T

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: S743T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113443
Gene: ENSMUSG00000010825
AA Change: S743T

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Atp6v0a1 T A 11: 100,945,886 (GRCm39) I723N probably damaging Het
C530025M09Rik T C 2: 149,672,670 (GRCm39) probably benign Het
Cdkn1a A G 17: 29,318,332 (GRCm39) K149E probably damaging Het
Cep70 T A 9: 99,180,558 (GRCm39) I571N probably damaging Het
Cimip4 T C 15: 78,270,427 (GRCm39) R114G possibly damaging Het
Col9a1 A T 1: 24,234,457 (GRCm39) probably benign Het
Csde1 G A 3: 102,948,545 (GRCm39) D132N possibly damaging Het
Dlk1 A G 12: 109,425,895 (GRCm39) Q256R probably damaging Het
Epha6 A T 16: 60,026,073 (GRCm39) D456E probably damaging Het
Ephx2 A G 14: 66,330,297 (GRCm39) V354A probably damaging Het
Fpr-rs4 A G 17: 18,242,317 (GRCm39) N108S probably damaging Het
Gimap1 C T 6: 48,719,521 (GRCm39) Q116* probably null Het
Gm10784 T C 13: 50,099,310 (GRCm39) noncoding transcript Het
Hic1 T C 11: 75,058,154 (GRCm39) D245G probably damaging Het
Hpcal4 C A 4: 123,084,514 (GRCm39) Q148K probably benign Het
Hspa14 C T 2: 3,512,109 (GRCm39) S55N probably benign Het
Hspa1b G A 17: 35,176,473 (GRCm39) T504I probably damaging Het
Jchain G T 5: 88,675,631 (GRCm39) T3N probably benign Het
Kl C G 5: 150,876,466 (GRCm39) F95L probably damaging Het
Kndc1 A G 7: 139,481,954 (GRCm39) T115A probably damaging Het
Lrp8 G T 4: 107,704,656 (GRCm39) R292L possibly damaging Het
Lrrc15 T A 16: 30,091,806 (GRCm39) D511V probably benign Het
Mapk8 A G 14: 33,112,250 (GRCm39) C213R probably damaging Het
Mcph1 C T 8: 18,682,015 (GRCm39) P384L probably benign Het
Mrps7 T C 11: 115,495,713 (GRCm39) S84P probably damaging Het
Nceh1 A C 3: 27,333,344 (GRCm39) I147L probably benign Het
Noxa1 A T 2: 24,975,821 (GRCm39) I409N probably damaging Het
Or1p1c T C 11: 74,161,088 (GRCm39) I291T probably damaging Het
Pkd1 G A 17: 24,800,004 (GRCm39) G2975R probably benign Het
Ppip5k1 T C 2: 121,167,591 (GRCm39) D17G probably null Het
Prex2 T A 1: 11,256,174 (GRCm39) Y1182N probably benign Het
Rasa2 T C 9: 96,427,699 (GRCm39) N722S probably benign Het
Rcc1l A G 5: 134,198,167 (GRCm39) V155A possibly damaging Het
Rest A G 5: 77,430,821 (GRCm39) E1080G unknown Het
Sacs A T 14: 61,441,985 (GRCm39) K1344* probably null Het
Sec16a C T 2: 26,313,954 (GRCm39) E1884K probably damaging Het
Secisbp2 C A 13: 51,833,813 (GRCm39) T651K probably damaging Het
Sema3e A G 5: 14,291,100 (GRCm39) D620G probably benign Het
Slc6a17 A G 3: 107,379,387 (GRCm39) S553P possibly damaging Het
Smpd5 C A 15: 76,179,092 (GRCm39) N153K probably damaging Het
Ube2d4 T A 15: 58,718,992 (GRCm39) noncoding transcript Het
Vps13c A G 9: 67,818,884 (GRCm39) I1102V probably damaging Het
Wdr36 C A 18: 32,979,998 (GRCm39) S241Y probably damaging Het
Wdr7 T A 18: 63,872,348 (GRCm39) D427E probably damaging Het
Zfp945 G A 17: 23,070,432 (GRCm39) P489L probably damaging 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
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
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'- AAAGCCCTTCTCCGCTAGGTAC -3'
(R):5'- AGCCAACTTCTGACTGCAG -3'

Sequencing Primer
(F):5'- CGCTAGGTACTTCTCTCAGGC -3'
(R):5'- AAGGAGCCCTAGCCATGGTG -3'
Posted On 2017-07-14