Incidental Mutation 'R4709:Grid2ip'
| ID |
355470 |
| 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 |
042018-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R4709 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
143343085-143377534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143374658 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 926
(L926H)
|
| 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: L919H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000010969
Gene: ENSMUSG00000010825
AA Change: L919H
| 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: L1098H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106361
Gene: ENSMUSG00000010825
AA Change: L1098H
| 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: L926H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113443
Gene: ENSMUSG00000010825
AA Change: L926H
| 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
|
| Meta Mutation Damage Score |
0.6670 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
97% (77/79) |
| 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 |
|---|
| Abcf1 |
G |
A |
17: 36,271,069 (GRCm39) |
T463M |
probably damaging |
Het |
| Arhgap35 |
C |
T |
7: 16,297,511 (GRCm39) |
G518D |
probably damaging |
Het |
| Arhgdia |
A |
G |
11: 120,470,517 (GRCm39) |
Y110H |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,372,604 (GRCm39) |
|
probably null |
Het |
| Bpifb6 |
T |
A |
2: 153,750,436 (GRCm39) |
I309N |
possibly damaging |
Het |
| Cbr4 |
T |
C |
8: 61,943,061 (GRCm39) |
V77A |
possibly damaging |
Het |
| Cers2 |
A |
G |
3: 95,227,534 (GRCm39) |
Y54C |
possibly damaging |
Het |
| Cnbp |
A |
T |
6: 87,821,120 (GRCm39) |
H145Q |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 16,073,905 (GRCm39) |
I2030N |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 16,760,522 (GRCm39) |
|
probably null |
Het |
| Dhodh |
T |
C |
8: 110,328,170 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
A |
12: 117,982,495 (GRCm39) |
Y2558F |
probably benign |
Het |
| Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
| En1 |
A |
T |
1: 120,534,872 (GRCm39) |
Y387F |
unknown |
Het |
| Ephb2 |
C |
A |
4: 136,423,363 (GRCm39) |
C305F |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,238,315 (GRCm39) |
V1477A |
probably benign |
Het |
| Gimap3 |
A |
T |
6: 48,742,327 (GRCm39) |
L201Q |
probably benign |
Het |
| Gm10801 |
T |
G |
2: 98,494,246 (GRCm39) |
|
probably null |
Het |
| Grhl1 |
A |
G |
12: 24,636,132 (GRCm39) |
I283V |
possibly damaging |
Het |
| Gtf2h2 |
G |
T |
13: 100,605,523 (GRCm39) |
C82* |
probably null |
Het |
| Gtf2ird1 |
T |
C |
5: 134,433,588 (GRCm39) |
T280A |
probably benign |
Het |
| Gzmd |
T |
C |
14: 56,367,698 (GRCm39) |
I192V |
probably null |
Het |
| Hectd1 |
A |
G |
12: 51,834,695 (GRCm39) |
V855A |
possibly damaging |
Het |
| Hey1 |
A |
G |
3: 8,730,963 (GRCm39) |
|
probably benign |
Het |
| Hpx |
A |
G |
7: 105,249,243 (GRCm39) |
S19P |
probably benign |
Het |
| Incenp |
G |
A |
19: 9,853,964 (GRCm39) |
R696W |
unknown |
Het |
| Itgam |
T |
C |
7: 127,700,709 (GRCm39) |
V493A |
probably damaging |
Het |
| Ldlrad3 |
A |
G |
2: 101,900,343 (GRCm39) |
I53T |
probably damaging |
Het |
| Map3k7 |
G |
T |
4: 31,985,700 (GRCm39) |
E208* |
probably null |
Het |
| Myh9 |
A |
T |
15: 77,671,717 (GRCm39) |
I458N |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nectin3 |
T |
A |
16: 46,284,306 (GRCm39) |
Y126F |
possibly damaging |
Het |
| Nek5 |
A |
T |
8: 22,573,443 (GRCm39) |
N504K |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,068,424 (GRCm39) |
H108Q |
probably benign |
Het |
| Or10d5 |
A |
T |
9: 39,861,165 (GRCm39) |
L301M |
probably damaging |
Het |
| Or2ak4 |
T |
C |
11: 58,649,013 (GRCm39) |
V174A |
possibly damaging |
Het |
| Or2at1 |
A |
T |
7: 99,416,989 (GRCm39) |
I207F |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,458 (GRCm39) |
T137S |
probably benign |
Het |
| Or9a2 |
G |
T |
6: 41,748,442 (GRCm39) |
Q264K |
probably benign |
Het |
| Or9i14 |
T |
A |
19: 13,792,814 (GRCm39) |
I47F |
possibly damaging |
Het |
| Parp6 |
T |
C |
9: 59,549,052 (GRCm39) |
I507T |
probably damaging |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,548 (GRCm39) |
T565A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,828,572 (GRCm39) |
N4676D |
unknown |
Het |
| Pdlim1 |
T |
A |
19: 40,211,180 (GRCm39) |
H278L |
probably benign |
Het |
| Pfkfb3 |
G |
A |
2: 11,498,719 (GRCm39) |
T46M |
probably damaging |
Het |
| Plscr2 |
A |
G |
9: 92,173,067 (GRCm39) |
Y203C |
probably damaging |
Het |
| Plxna1 |
T |
C |
6: 89,311,733 (GRCm39) |
D924G |
possibly damaging |
Het |
| Postn |
T |
A |
3: 54,292,031 (GRCm39) |
|
probably benign |
Het |
| Ptpn23 |
A |
G |
9: 110,217,924 (GRCm39) |
S674P |
possibly damaging |
Het |
| Ranbp6 |
C |
T |
19: 29,788,984 (GRCm39) |
R456Q |
probably benign |
Het |
| Rbm43 |
A |
T |
2: 51,819,728 (GRCm39) |
V46E |
probably damaging |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rtn4r |
A |
G |
16: 17,969,046 (GRCm39) |
Y158C |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,731,884 (GRCm39) |
I2352T |
probably damaging |
Het |
| Sbk2 |
G |
T |
7: 4,960,577 (GRCm39) |
R198S |
possibly damaging |
Het |
| Scube3 |
G |
A |
17: 28,386,166 (GRCm39) |
|
probably null |
Het |
| Slc45a1 |
G |
A |
4: 150,722,697 (GRCm39) |
P396S |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,087,861 (GRCm39) |
D418G |
probably null |
Het |
| Smarcad1 |
A |
G |
6: 65,052,099 (GRCm39) |
T411A |
probably benign |
Het |
| Smtn |
G |
A |
11: 3,474,663 (GRCm39) |
S716F |
probably damaging |
Het |
| Stag1 |
G |
T |
9: 100,620,092 (GRCm39) |
R65L |
probably damaging |
Het |
| Stat1 |
A |
T |
1: 52,165,680 (GRCm39) |
D92V |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,582,428 (GRCm39) |
Y22822H |
probably damaging |
Het |
| Vmn1r172 |
A |
G |
7: 23,359,606 (GRCm39) |
T164A |
probably benign |
Het |
| Vmn2r118 |
A |
T |
17: 55,917,860 (GRCm39) |
D217E |
probably damaging |
Het |
| Vmn2r26 |
A |
G |
6: 124,030,924 (GRCm39) |
E553G |
probably damaging |
Het |
| Vmn2r96 |
T |
C |
17: 18,803,088 (GRCm39) |
F333L |
probably benign |
Het |
| Ypel5 |
G |
A |
17: 73,155,726 (GRCm39) |
R98H |
probably benign |
Het |
| Zfp719 |
C |
T |
7: 43,239,656 (GRCm39) |
H415Y |
probably damaging |
Het |
| Zyg11a |
T |
C |
4: 108,062,268 (GRCm39) |
S176G |
probably benign |
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 |
|
|
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'- TAAGCCAGCACTTCCCTGAG -3'
(R):5'- ATGGAAGCTCTCACAACGG -3'
Sequencing Primer
(F):5'- CCTGAGCTCCTGGGCTTTG -3'
(R):5'- ACGTGCTTCTGCCTGGAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation