Incidental Mutation 'R7652:Grid2ip'
| ID |
590908 |
| 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 |
045729-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R7652 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
143343085-143377534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 143368393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 743
(P743Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010969]
[ENSMUST00000110733]
[ENSMUST00000120825]
|
| AlphaFold |
Q0QWG9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000010969
AA Change: P564Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000010969
Gene: ENSMUSG00000010825
AA Change: P564Q
| 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 damaging
Transcript: ENSMUST00000110733
AA Change: P743Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106361
Gene: ENSMUSG00000010825
AA Change: P743Q
| 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 damaging
Transcript: ENSMUST00000120825
AA Change: P571Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113443
Gene: ENSMUSG00000010825
AA Change: P571Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (66/66) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
A |
G |
4: 156,253,675 (GRCm39) |
|
probably null |
Het |
| Alb |
G |
C |
5: 90,615,214 (GRCm39) |
R242P |
probably damaging |
Het |
| Anxa2r2 |
A |
T |
13: 120,488,529 (GRCm39) |
S7T |
possibly damaging |
Het |
| Aph1b |
T |
C |
9: 66,691,823 (GRCm39) |
T195A |
probably benign |
Het |
| Apoe |
G |
T |
7: 19,430,535 (GRCm39) |
R236S |
possibly damaging |
Het |
| Arap3 |
G |
T |
18: 38,111,505 (GRCm39) |
T1137K |
probably damaging |
Het |
| Arhgap45 |
C |
T |
10: 79,864,672 (GRCm39) |
A908V |
probably benign |
Het |
| Atp13a1 |
T |
C |
8: 70,258,209 (GRCm39) |
C965R |
probably damaging |
Het |
| C7 |
A |
G |
15: 5,041,587 (GRCm39) |
Y440H |
probably damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,401,397 (GRCm39) |
|
probably null |
Het |
| Ddah2 |
C |
A |
17: 35,280,026 (GRCm39) |
R173S |
possibly damaging |
Het |
| Dnajc11 |
T |
C |
4: 152,058,682 (GRCm39) |
Y337H |
probably damaging |
Het |
| Dnajc25 |
A |
G |
4: 59,020,483 (GRCm39) |
K302R |
probably benign |
Het |
| Dnajc6 |
A |
T |
4: 101,463,874 (GRCm39) |
Q209L |
probably damaging |
Het |
| Drosha |
G |
A |
15: 12,859,522 (GRCm39) |
V577I |
probably benign |
Het |
| Ebf2 |
G |
T |
14: 67,628,016 (GRCm39) |
|
probably null |
Het |
| Epx |
A |
G |
11: 87,766,160 (GRCm39) |
|
probably null |
Het |
| Eqtn |
T |
C |
4: 94,816,574 (GRCm39) |
Y73C |
probably damaging |
Het |
| Fam107b |
A |
G |
2: 3,773,884 (GRCm39) |
N21S |
probably benign |
Het |
| Fasn |
G |
A |
11: 120,707,154 (GRCm39) |
S857F |
probably damaging |
Het |
| Fat1 |
A |
G |
8: 45,406,336 (GRCm39) |
N1029S |
probably damaging |
Het |
| Gas8 |
A |
G |
8: 124,253,275 (GRCm39) |
I208V |
probably benign |
Het |
| Gm3269 |
T |
C |
14: 16,026,209 (GRCm39) |
I88T |
probably benign |
Het |
| Gm8005 |
C |
A |
14: 42,258,919 (GRCm39) |
L136F |
|
Het |
| H2-T15 |
A |
T |
17: 36,367,675 (GRCm39) |
V221D |
probably damaging |
Het |
| Hbs1l |
C |
T |
10: 21,240,659 (GRCm39) |
T626I |
probably benign |
Het |
| Hdac3 |
T |
A |
18: 38,087,972 (GRCm39) |
|
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,496,400 (GRCm39) |
Y94C |
probably damaging |
Het |
| Homer2 |
T |
C |
7: 81,299,414 (GRCm39) |
D17G |
probably damaging |
Het |
| Ikbke |
C |
T |
1: 131,199,569 (GRCm39) |
R308Q |
probably damaging |
Het |
| Ints10 |
A |
G |
8: 69,277,771 (GRCm39) |
T682A |
possibly damaging |
Het |
| Klhl3 |
G |
A |
13: 58,261,146 (GRCm39) |
|
probably benign |
Het |
| Klk1b9 |
A |
T |
7: 43,445,514 (GRCm39) |
T235S |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,520,717 (GRCm39) |
T1798A |
probably benign |
Het |
| Kri1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTCCTCCTC |
9: 21,192,352 (GRCm39) |
|
probably benign |
Het |
| Krtap4-6 |
T |
C |
11: 99,556,440 (GRCm39) |
I96V |
unknown |
Het |
| Lef1 |
A |
C |
3: 130,994,003 (GRCm39) |
R354S |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,488,208 (GRCm39) |
L296* |
probably null |
Het |
| Maml2 |
T |
C |
9: 13,532,945 (GRCm39) |
Y720H |
|
Het |
| Mmrn1 |
A |
G |
6: 60,954,490 (GRCm39) |
N924D |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,474,156 (GRCm39) |
K1624E |
probably damaging |
Het |
| Nos3 |
T |
A |
5: 24,588,610 (GRCm39) |
V1112D |
probably damaging |
Het |
| Or2y14 |
T |
C |
11: 49,404,512 (GRCm39) |
F16L |
probably damaging |
Het |
| Or4c111 |
C |
T |
2: 88,843,893 (GRCm39) |
V172I |
probably benign |
Het |
| Or5an1b |
C |
A |
19: 12,299,651 (GRCm39) |
C180F |
probably damaging |
Het |
| Or5w13 |
A |
G |
2: 87,523,704 (GRCm39) |
I174T |
probably damaging |
Het |
| Or6c70 |
A |
T |
10: 129,710,346 (GRCm39) |
N93K |
probably damaging |
Het |
| Phospho1 |
T |
C |
11: 95,721,645 (GRCm39) |
L105S |
probably damaging |
Het |
| Prss35 |
T |
A |
9: 86,638,023 (GRCm39) |
N264K |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,677,578 (GRCm39) |
D732G |
probably benign |
Het |
| Rab18 |
A |
T |
18: 6,783,123 (GRCm39) |
T64S |
possibly damaging |
Het |
| Rft1 |
A |
G |
14: 30,399,773 (GRCm39) |
Q319R |
probably benign |
Het |
| Rgs7 |
T |
A |
1: 174,921,396 (GRCm39) |
M220L |
probably benign |
Het |
| Rnf13 |
A |
G |
3: 57,671,772 (GRCm39) |
N28S |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,078,548 (GRCm39) |
I311N |
probably damaging |
Het |
| Setd5 |
G |
A |
6: 113,098,725 (GRCm39) |
R786H |
probably damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,733,143 (GRCm39) |
|
probably null |
Het |
| Slc26a9 |
A |
T |
1: 131,691,634 (GRCm39) |
T626S |
probably benign |
Het |
| Stambp |
A |
T |
6: 83,540,910 (GRCm39) |
|
probably null |
Het |
| Stom |
A |
T |
2: 35,206,041 (GRCm39) |
N229K |
probably benign |
Het |
| Tlr1 |
A |
T |
5: 65,084,130 (GRCm39) |
L149* |
probably null |
Het |
| Trpc3 |
C |
A |
3: 36,692,677 (GRCm39) |
V772F |
probably benign |
Het |
| Ube3a |
A |
G |
7: 58,893,102 (GRCm39) |
|
probably benign |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,369 (GRCm39) |
F207I |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,746,884 (GRCm39) |
D360E |
possibly damaging |
Het |
| Vmn2r96 |
T |
G |
17: 18,793,832 (GRCm39) |
S59A |
probably benign |
Het |
| Wdr70 |
A |
G |
15: 8,108,700 (GRCm39) |
C149R |
probably benign |
Het |
| Wnt3 |
A |
G |
11: 103,703,290 (GRCm39) |
T258A |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,739,371 (GRCm39) |
T965A |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
|
| Other mutations in Grid2ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
R7405:Grid2ip
|
UTSW |
5 |
143,366,199 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- TGAGGTACAGGACTGAGACC -3'
(R):5'- ACGCTCATATGGCTGGTCTC -3'
Sequencing Primer
(F):5'- TACAGGACTGAGACCCTGGC -3'
(R):5'- CATATGGCTGGTCTCACTGCG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation