Incidental Mutation 'R7405:Grid2ip'
ID 574498
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 045376-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R7405 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 143343085-143377534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 143366199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 563 (I563T)
Ref Sequence ENSEMBL: ENSMUSP00000106361 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010969] [ENSMUST00000110733] [ENSMUST00000120825]
AlphaFold Q0QWG9
Predicted Effect probably benign
Transcript: ENSMUST00000010969
AA Change: I384T

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000010969
Gene: ENSMUSG00000010825
AA Change: I384T

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: I563T

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000106361
Gene: ENSMUSG00000010825
AA Change: I563T

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: I391T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113443
Gene: ENSMUSG00000010825
AA Change: I391T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G T 17: 9,220,649 (GRCm39) V383L probably damaging Het
4930507D05Rik C A 10: 62,285,563 (GRCm39) H96N unknown Het
5730480H06Rik T C 5: 48,545,458 (GRCm39) I235T possibly damaging Het
Abcb11 A G 2: 69,117,963 (GRCm39) Y472H probably damaging Het
Adam39 A T 8: 41,277,659 (GRCm39) I17L probably benign Het
Aire T C 10: 77,870,447 (GRCm39) H458R probably benign Het
Ap3d1 T C 10: 80,577,734 (GRCm39) D31G probably benign Het
Atad2b T A 12: 4,993,232 (GRCm39) H250Q probably benign Het
Bnip5 G A 17: 29,124,298 (GRCm39) R335W probably damaging Het
Borcs5 C A 6: 134,662,945 (GRCm39) T74N probably benign Het
Btbd16 C T 7: 130,407,586 (GRCm39) T292I probably benign Het
Catsperd G A 17: 56,939,335 (GRCm39) V55M possibly damaging Het
Cfap107 T C 4: 144,146,323 (GRCm39) N110S probably damaging Het
Ctr9 T C 7: 110,642,921 (GRCm39) F462S possibly damaging Het
Cyp4f39 A G 17: 32,700,789 (GRCm39) S153G probably benign Het
Ddo T C 10: 40,523,993 (GRCm39) C328R possibly damaging Het
Ddr1 A G 17: 36,000,992 (GRCm39) V251A probably damaging Het
Dis3l A G 9: 64,221,986 (GRCm39) F475L probably damaging Het
Dkk4 G A 8: 23,115,859 (GRCm39) V99M probably benign Het
Dync1h1 C T 12: 110,600,654 (GRCm39) A1938V probably damaging Het
Ecel1 A T 1: 87,081,238 (GRCm39) probably null Het
Fbxo7 T A 10: 85,880,445 (GRCm39) Y377N probably damaging Het
Fbxw24 T C 9: 109,436,136 (GRCm39) I299V possibly damaging Het
Fkbp10 C T 11: 100,306,707 (GRCm39) A33V probably damaging Het
Gabra1 T C 11: 42,045,850 (GRCm39) T87A probably damaging Het
Gm21886 ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG 18: 80,133,040 (GRCm39) probably benign Het
Golga3 A T 5: 110,356,312 (GRCm39) I1000F probably damaging Het
Gsx1 T C 5: 147,125,943 (GRCm39) S82P possibly damaging Het
Heg1 A G 16: 33,583,819 (GRCm39) K34E possibly damaging Het
Kank1 T A 19: 25,387,683 (GRCm39) L452* probably null Het
Lce1k A T 3: 92,714,181 (GRCm39) M1K probably null Het
Lcmt2 A G 2: 120,969,868 (GRCm39) I185T probably benign Het
Lrp1 T C 10: 127,417,620 (GRCm39) D1046G possibly damaging Het
Lrrc37 A T 11: 103,505,987 (GRCm39) Y1994N probably benign Het
Mast3 A T 8: 71,238,815 (GRCm39) D496E probably damaging Het
Mst1r C T 9: 107,792,321 (GRCm39) S925F possibly damaging Het
Mterf2 C T 10: 84,956,360 (GRCm39) G88D probably damaging Het
Mthfd1 T C 12: 76,358,648 (GRCm39) V783A probably damaging Het
Mybpc2 A T 7: 44,156,618 (GRCm39) W778R probably damaging Het
Nbea A G 3: 55,712,687 (GRCm39) L2130P possibly damaging Het
Ndst4 A G 3: 125,476,865 (GRCm39) N30S probably benign Het
Nphs1 T C 7: 30,162,253 (GRCm39) V299A possibly damaging Het
Nup107 T C 10: 117,606,320 (GRCm39) D474G probably benign Het
Or10ag56 A C 2: 87,139,339 (GRCm39) I89L probably benign Het
Or10w1 T C 19: 13,632,246 (GRCm39) V151A probably benign Het
Or2w25 T A 11: 59,504,899 (GRCm39) F370I possibly damaging Het
Or7a42 T C 10: 78,791,531 (GRCm39) V164A probably benign Het
Pgap2 T C 7: 101,880,595 (GRCm39) V41A probably benign Het
Plekhh1 C T 12: 79,101,821 (GRCm39) T297I probably benign Het
Plxna4 A T 6: 32,173,254 (GRCm39) Y1226N probably benign Het
Polr3b A G 10: 84,520,043 (GRCm39) D653G probably benign Het
Ppp2r2c T C 5: 37,104,486 (GRCm39) F289L possibly damaging Het
Prickle2 A G 6: 92,435,524 (GRCm39) S82P probably damaging Het
Ptger2 T A 14: 45,226,531 (GRCm39) V37D probably damaging Het
Rasa2 G A 9: 96,448,080 (GRCm39) P526S probably benign Het
Rbm47 A T 5: 66,183,838 (GRCm39) I255N probably damaging Het
Sez6 A T 11: 77,853,717 (GRCm39) T296S probably benign Het
Slc2a9 T A 5: 38,549,167 (GRCm39) I316F probably damaging Het
Slc41a1 T A 1: 131,766,884 (GRCm39) V134D probably damaging Het
Slc5a7 A T 17: 54,604,161 (GRCm39) S2T probably benign Het
Slc9a4 C T 1: 40,640,086 (GRCm39) R293C probably damaging Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Suco A G 1: 161,655,783 (GRCm39) F1039L possibly damaging Het
Sycp1 A G 3: 102,832,543 (GRCm39) Y208H possibly damaging Het
Tpr T C 1: 150,317,878 (GRCm39) S2129P probably benign Het
Trim34b T A 7: 103,985,690 (GRCm39) S442T probably damaging Het
Ttn A T 2: 76,573,690 (GRCm39) Y25734* probably null Het
Uchl5 C T 1: 143,675,752 (GRCm39) Q276* probably null Het
Wrn C G 8: 33,738,994 (GRCm39) W1278S probably benign Het
Yeats2 T A 16: 20,041,663 (GRCm39) D1184E probably damaging Het
Zfat G A 15: 68,056,334 (GRCm39) R241W probably damaging Het
Zfp646 T A 7: 127,477,968 (GRCm39) Y48* probably null Het
Zfp998 T C 13: 66,579,118 (GRCm39) Q455R unknown 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
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
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'- ATGGAGACCCCTGACCAAAG -3'
(R):5'- AGCCAACCTTGATGACCTATTGC -3'

Sequencing Primer
(F):5'- CTGACCAAAGTTTTCCAGATGCAG -3'
(R):5'- CAACCTTGATGACCTATTGCACATG -3'
Posted On 2019-09-13