Incidental Mutation 'R8793:Grid2ip'
| ID |
671045 |
| 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 |
068610-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R8793 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
143343085-143377534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 143363396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 463
(T463M)
|
| 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: T284M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000010969
Gene: ENSMUSG00000010825
AA Change: T284M
| 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: T463M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106361
Gene: ENSMUSG00000010825
AA Change: T463M
| 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: T291M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113443
Gene: ENSMUSG00000010825
AA Change: T291M
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (38/38) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
C |
3: 59,945,804 (GRCm39) |
D158A |
probably damaging |
Het |
| Acot7 |
G |
A |
4: 152,284,380 (GRCm39) |
V17I |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,375,076 (GRCm39) |
T184A |
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 96,968,221 (GRCm39) |
D619E |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,107,492 (GRCm39) |
F1342L |
probably benign |
Het |
| Arfgef1 |
G |
C |
1: 10,212,832 (GRCm39) |
N1696K |
possibly damaging |
Het |
| Asap2 |
A |
G |
12: 21,218,212 (GRCm39) |
D45G |
probably damaging |
Het |
| Atp8b4 |
T |
A |
2: 126,231,254 (GRCm39) |
M456L |
probably benign |
Het |
| Bag5 |
A |
T |
12: 111,677,355 (GRCm39) |
I156N |
possibly damaging |
Het |
| Banp |
T |
A |
8: 122,750,743 (GRCm39) |
V478E |
probably benign |
Het |
| BC024063 |
A |
T |
10: 81,945,352 (GRCm39) |
H324L |
probably benign |
Het |
| Bms1 |
T |
A |
6: 118,360,784 (GRCm39) |
K1228M |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,958,429 (GRCm39) |
K649E |
probably benign |
Het |
| Cpox |
C |
A |
16: 58,493,708 (GRCm39) |
P226Q |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,594,539 (GRCm39) |
S5P |
unknown |
Het |
| Dock2 |
G |
T |
11: 34,451,215 (GRCm39) |
Q837K |
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,187,535 (GRCm39) |
I134T |
probably damaging |
Het |
| Gm2832 |
A |
G |
14: 41,003,726 (GRCm39) |
T186A |
|
Het |
| Gm8246 |
T |
C |
14: 16,984,554 (GRCm39) |
E93G |
probably damaging |
Het |
| Mael |
G |
A |
1: 166,029,257 (GRCm39) |
R389C |
probably benign |
Het |
| Myo9a |
C |
A |
9: 59,791,850 (GRCm39) |
Q1818K |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,419,704 (GRCm39) |
D963G |
probably benign |
Het |
| Or13c3 |
A |
G |
4: 52,856,490 (GRCm39) |
F8L |
probably benign |
Het |
| Or2g1 |
T |
C |
17: 38,107,255 (GRCm39) |
S307P |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,678,731 (GRCm39) |
V895E |
probably damaging |
Het |
| Pcna |
T |
C |
2: 132,093,193 (GRCm39) |
T185A |
probably benign |
Het |
| Pip4k2c |
A |
G |
10: 127,042,530 (GRCm39) |
F108L |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,445,614 (GRCm39) |
S497T |
probably damaging |
Het |
| Potefam3b |
G |
A |
8: 21,159,053 (GRCm39) |
V136I |
probably benign |
Het |
| Ppp1r12c |
A |
G |
7: 4,485,887 (GRCm39) |
V653A |
probably benign |
Het |
| Pramel27 |
A |
G |
4: 143,577,627 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,764,284 (GRCm39) |
V3072E |
probably damaging |
Het |
| Sh3bgr |
G |
A |
16: 96,025,792 (GRCm39) |
|
probably null |
Het |
| Slc27a5 |
A |
C |
7: 12,723,296 (GRCm39) |
L550R |
probably benign |
Het |
| Strip2 |
C |
T |
6: 29,956,815 (GRCm39) |
P815S |
probably benign |
Het |
| Tars3 |
G |
T |
7: 65,294,673 (GRCm39) |
|
probably benign |
Het |
| Tle5 |
T |
C |
10: 81,397,152 (GRCm39) |
|
probably null |
Het |
| Tmem237 |
G |
T |
1: 59,146,613 (GRCm39) |
L337M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,555,506 (GRCm39) |
M30500V |
probably benign |
Het |
| Ube2u |
T |
C |
4: 100,336,416 (GRCm39) |
F13S |
probably damaging |
Het |
| Ugcg |
A |
C |
4: 59,207,794 (GRCm39) |
K44N |
probably benign |
Het |
| Vmn2r39 |
A |
T |
7: 9,028,149 (GRCm39) |
H407Q |
probably damaging |
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 |
|
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 |
|
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'- ATCCACACCCCTGAGTGATG -3'
(R):5'- TGTTTTCGTCCTGAGACAAAGTC -3'
Sequencing Primer
(F):5'- ACACCCCTGAGTGATGAGCTC -3'
(R):5'- CAAAGTCTCACTATGGGCTACAGTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation