Incidental Mutation 'IGL02271:Grid2ip'
| ID |
287156 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Grid2ip
|
| Ensembl Gene |
ENSMUSG00000010825 |
| Gene Name |
glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1 |
| Synonyms |
delphilin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
IGL02271
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
143343085-143377534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143374664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 928
(D928G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113443
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010969]
[ENSMUST00000110733]
[ENSMUST00000120825]
|
| AlphaFold |
Q0QWG9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010969
AA Change: D921G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000010969
Gene: ENSMUSG00000010825
AA Change: D921G
| Domain | Start | End | E-Value | Type |
|---|
|
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: D1100G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106361
Gene: ENSMUSG00000010825
AA Change: D1100G
| Domain | Start | End | E-Value | Type |
|---|
|
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: D928G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113443
Gene: ENSMUSG00000010825
AA Change: D928G
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000198312
|
| Coding Region Coverage |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Astn1 |
C |
T |
1: 158,338,520 (GRCm39) |
|
probably benign |
Het |
| Bms1 |
C |
A |
6: 118,366,290 (GRCm39) |
V1068F |
probably benign |
Het |
| Cand1 |
A |
T |
10: 119,047,626 (GRCm39) |
N621K |
probably damaging |
Het |
| Cd44 |
C |
T |
2: 102,661,732 (GRCm39) |
E418K |
possibly damaging |
Het |
| Clip2 |
A |
T |
5: 134,531,425 (GRCm39) |
N758K |
probably benign |
Het |
| Cst11 |
A |
T |
2: 148,613,161 (GRCm39) |
Y55N |
probably damaging |
Het |
| Cytip |
A |
T |
2: 58,023,872 (GRCm39) |
L316* |
probably null |
Het |
| Ddx52 |
T |
C |
11: 83,843,057 (GRCm39) |
M352T |
probably damaging |
Het |
| Fancd2 |
G |
A |
6: 113,512,720 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,034,068 (GRCm39) |
E2573D |
probably benign |
Het |
| Fbxl13 |
T |
G |
5: 21,695,454 (GRCm39) |
D646A |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Hmgxb3 |
A |
G |
18: 61,265,285 (GRCm39) |
L1231P |
probably damaging |
Het |
| Ifitm7 |
A |
G |
16: 13,801,541 (GRCm39) |
F73L |
probably damaging |
Het |
| Ikbkb |
T |
A |
8: 23,155,919 (GRCm39) |
T583S |
probably benign |
Het |
| Kdm6b |
G |
A |
11: 69,296,893 (GRCm39) |
A458V |
possibly damaging |
Het |
| Klra2 |
T |
C |
6: 131,207,180 (GRCm39) |
K143R |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,764,309 (GRCm39) |
S42P |
possibly damaging |
Het |
| Krt78 |
T |
A |
15: 101,857,028 (GRCm39) |
M360L |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,350,250 (GRCm39) |
N677S |
probably damaging |
Het |
| Lrrc9 |
G |
A |
12: 72,557,155 (GRCm39) |
V1407I |
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,168,113 (GRCm39) |
T426A |
probably benign |
Het |
| Net1 |
T |
C |
13: 3,937,663 (GRCm39) |
Y146C |
probably damaging |
Het |
| Nlrp4d |
T |
A |
7: 10,122,625 (GRCm39) |
|
noncoding transcript |
Het |
| Notch4 |
A |
T |
17: 34,787,445 (GRCm39) |
N335I |
probably damaging |
Het |
| Or14j6 |
A |
T |
17: 38,215,134 (GRCm39) |
E232D |
probably benign |
Het |
| Or5ac20 |
A |
T |
16: 59,104,584 (GRCm39) |
I92K |
probably damaging |
Het |
| Or8b53 |
A |
T |
9: 38,667,784 (GRCm39) |
T267S |
probably benign |
Het |
| Pax3 |
A |
T |
1: 78,171,969 (GRCm39) |
H80Q |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,729,508 (GRCm39) |
|
probably benign |
Het |
| Pdgfra |
A |
G |
5: 75,348,567 (GRCm39) |
D869G |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,373,332 (GRCm39) |
Y152C |
probably damaging |
Het |
| Pilrb2 |
T |
C |
5: 137,865,125 (GRCm39) |
D223G |
probably benign |
Het |
| Rag1 |
T |
A |
2: 101,473,733 (GRCm39) |
I470F |
probably damaging |
Het |
| Rap1gap |
T |
C |
4: 137,445,317 (GRCm39) |
S333P |
probably damaging |
Het |
| Rundc3b |
A |
G |
5: 8,542,530 (GRCm39) |
Y430H |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,793,472 (GRCm39) |
D1332G |
probably benign |
Het |
| Sgo1 |
G |
A |
17: 53,986,567 (GRCm39) |
A208V |
possibly damaging |
Het |
| Skint5 |
C |
T |
4: 113,794,778 (GRCm39) |
|
probably null |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc28a3 |
A |
T |
13: 58,706,451 (GRCm39) |
S597T |
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,248,085 (GRCm39) |
|
probably benign |
Het |
| Slc52a3 |
A |
G |
2: 151,847,448 (GRCm39) |
|
probably benign |
Het |
| Stac3 |
A |
G |
10: 127,339,768 (GRCm39) |
D158G |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,871,224 (GRCm39) |
|
probably benign |
Het |
| Usp25 |
A |
T |
16: 76,912,335 (GRCm39) |
E1018V |
probably damaging |
Het |
| Vmn1r46 |
T |
A |
6: 89,953,886 (GRCm39) |
F245Y |
probably damaging |
Het |
|
| Other mutations in Grid2ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation