Incidental Mutation 'R1477:Grid2ip'
ID 164119
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 039530-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R1477 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 143343085-143377534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 143361340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 191 (A191T)
Ref Sequence ENSEMBL: ENSMUSP00000113443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010969] [ENSMUST00000110733] [ENSMUST00000120825]
AlphaFold Q0QWG9
Predicted Effect probably damaging
Transcript: ENSMUST00000010969
AA Change: A184T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000010969
Gene: ENSMUSG00000010825
AA Change: A184T

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 damaging
Transcript: ENSMUST00000110733
AA Change: A363T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106361
Gene: ENSMUSG00000010825
AA Change: A363T

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 damaging
Transcript: ENSMUST00000120825
AA Change: A191T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113443
Gene: ENSMUSG00000010825
AA Change: A191T

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: ENSMUST00000138948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196148
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.1%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 A C 19: 55,279,904 (GRCm39) D481A probably benign Het
Adam2 A C 14: 66,315,149 (GRCm39) L8R possibly damaging Het
Ajm1 G C 2: 25,469,765 (GRCm39) H49D possibly damaging Het
Arfgef1 A T 1: 10,259,509 (GRCm39) C619S probably damaging Het
Atm A G 9: 53,375,573 (GRCm39) I2082T probably benign Het
Cgrrf1 A G 14: 47,090,895 (GRCm39) I210M probably benign Het
Clec2e A T 6: 129,072,163 (GRCm39) V72E probably benign Het
Cmtr1 T C 17: 29,916,131 (GRCm39) V587A possibly damaging Het
Col1a2 T C 6: 4,539,673 (GRCm39) F1314L unknown Het
Ctbp2 T C 7: 132,600,670 (GRCm39) E618G probably damaging Het
Dnaaf6rt G A 1: 31,262,104 (GRCm39) V29M probably benign Het
Dock8 A T 19: 25,072,914 (GRCm39) Y398F possibly damaging Het
Ezh1 A T 11: 101,083,810 (GRCm39) D733E probably damaging Het
Fbxl6 A G 15: 76,421,934 (GRCm39) S202P probably benign Het
Fcgbpl1 C A 7: 27,856,518 (GRCm39) Q2102K probably benign Het
Helz2 T C 2: 180,874,597 (GRCm39) S1966G probably benign Het
Ipmk A G 10: 71,217,607 (GRCm39) K385E probably damaging Het
Itga11 G A 9: 62,662,493 (GRCm39) V489I probably benign Het
Klhl6 T C 16: 19,784,727 (GRCm39) K137R probably benign Het
Meis1 G A 11: 18,831,665 (GRCm39) Q458* probably null Het
Mst1r T C 9: 107,785,523 (GRCm39) S394P probably benign Het
Mus81 G T 19: 5,536,362 (GRCm39) H155Q probably benign Het
Neb G A 2: 52,154,134 (GRCm39) L2326F probably damaging Het
Nf1 C T 11: 79,286,685 (GRCm39) Q162* probably null Het
Nin T C 12: 70,090,958 (GRCm39) E819G possibly damaging Het
Nox4 T C 7: 86,945,074 (GRCm39) V79A probably benign Het
Or11g2 A T 14: 50,856,170 (GRCm39) I164F probably damaging Het
Or13a28 T A 7: 140,218,355 (GRCm39) I247N possibly damaging Het
Or5ae2 T A 7: 84,506,225 (GRCm39) I216N probably damaging Het
Or6d12 A T 6: 116,493,626 (GRCm39) Y296F probably damaging Het
Peg3 T A 7: 6,719,141 (GRCm39) D69V probably damaging Het
Pnp2 A G 14: 51,196,992 (GRCm39) E26G probably benign Het
Pnpt1 T A 11: 29,087,102 (GRCm39) C154S probably benign Het
Ppp1r26 C T 2: 28,342,800 (GRCm39) T810I probably benign Het
Ppp2r5b A G 19: 6,280,257 (GRCm39) S349P probably benign Het
Prdm4 C T 10: 85,740,129 (GRCm39) V424I probably benign Het
Rraga A G 4: 86,494,996 (GRCm39) I281V probably benign Het
Sall1 T C 8: 89,759,510 (GRCm39) E198G probably damaging Het
Serpina9 T C 12: 103,963,362 (GRCm39) D382G possibly damaging Het
Stt3b A G 9: 115,095,260 (GRCm39) V257A probably damaging Het
Taf2 A T 15: 54,925,568 (GRCm39) Y225N possibly damaging Het
Tlr3 A G 8: 45,851,202 (GRCm39) L41P probably damaging Het
Trappc12 A T 12: 28,787,751 (GRCm39) V444E probably benign Het
Trim34a T A 7: 103,897,287 (GRCm39) V117D possibly damaging Het
Ttbk1 A C 17: 46,787,725 (GRCm39) M259R probably benign Het
Ttll12 A G 15: 83,464,303 (GRCm39) V509A probably damaging Het
Ush2a G A 1: 188,581,273 (GRCm39) V3718M probably benign Het
Vps35 T A 8: 86,014,429 (GRCm39) E73D probably damaging Het
Zfp790 C T 7: 29,522,525 (GRCm39) 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
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
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'- GCGTTCAATGCTGTTCACAGCTC -3'
(R):5'- AAGGCACGTCAGTTGTTCCTCC -3'

Sequencing Primer
(F):5'- TGCTGTTCACAGCTCAGAAG -3'
(R):5'- AACAGGATTGCCAGTGTTTAGC -3'
Posted On 2014-03-28