Incidental Mutation 'R2266:Grid2ip'
ID |
242025 |
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 |
040266-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R2266 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
143343085-143377534 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 143371847 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 690
(P690L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010969]
[ENSMUST00000110733]
[ENSMUST00000120825]
|
AlphaFold |
Q0QWG9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000010969
AA Change: P690L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000010969 Gene: ENSMUSG00000010825 AA Change: P690L
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: P869L
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000106361 Gene: ENSMUSG00000010825 AA Change: P869L
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: P697L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113443 Gene: ENSMUSG00000010825 AA Change: P697L
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
100% (68/68) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
T |
A |
3: 59,944,737 (GRCm39) |
D136E |
probably damaging |
Het |
Agrn |
C |
T |
4: 156,263,675 (GRCm39) |
G173R |
probably damaging |
Het |
Apob |
T |
C |
12: 8,065,475 (GRCm39) |
F4115S |
possibly damaging |
Het |
Bsn |
T |
A |
9: 107,992,323 (GRCm39) |
D1143V |
probably damaging |
Het |
Cacna2d2 |
T |
C |
9: 107,390,479 (GRCm39) |
V317A |
probably damaging |
Het |
Cdh1 |
G |
A |
8: 107,388,635 (GRCm39) |
V564I |
probably benign |
Het |
Cep250 |
T |
C |
2: 155,818,090 (GRCm39) |
V814A |
probably benign |
Het |
Ces2a |
A |
T |
8: 105,466,822 (GRCm39) |
I65F |
probably benign |
Het |
Commd8 |
A |
G |
5: 72,322,765 (GRCm39) |
W51R |
probably damaging |
Het |
Cyb561d1 |
A |
T |
3: 108,106,720 (GRCm39) |
H166Q |
probably damaging |
Het |
Dcun1d4 |
T |
A |
5: 73,638,618 (GRCm39) |
|
probably benign |
Het |
Dgkd |
A |
G |
1: 87,855,540 (GRCm39) |
|
probably benign |
Het |
Dipk2b |
A |
G |
X: 18,289,926 (GRCm39) |
S179P |
possibly damaging |
Het |
Dnajc28 |
T |
C |
16: 91,413,200 (GRCm39) |
N372S |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,830,332 (GRCm39) |
|
probably null |
Het |
Eid1 |
A |
G |
2: 125,515,344 (GRCm39) |
D78G |
possibly damaging |
Het |
Emid1 |
T |
A |
11: 5,094,331 (GRCm39) |
Q60L |
probably damaging |
Het |
Fam135a |
A |
T |
1: 24,067,878 (GRCm39) |
V801E |
probably benign |
Het |
Foxh1 |
A |
G |
15: 76,552,820 (GRCm39) |
V298A |
probably benign |
Het |
Foxn4 |
T |
C |
5: 114,393,662 (GRCm39) |
T486A |
probably damaging |
Het |
Gpc6 |
A |
T |
14: 118,125,932 (GRCm39) |
|
probably null |
Het |
H2bc9 |
T |
C |
13: 23,727,162 (GRCm39) |
K121E |
possibly damaging |
Het |
Hdhd2 |
C |
T |
18: 77,052,866 (GRCm39) |
T172M |
probably benign |
Het |
Hr |
A |
T |
14: 70,795,547 (GRCm39) |
D393V |
probably benign |
Het |
Ido2 |
T |
C |
8: 25,025,268 (GRCm39) |
Y253C |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Klra10 |
A |
G |
6: 130,246,264 (GRCm39) |
V237A |
probably benign |
Het |
Klre1 |
A |
G |
6: 129,562,593 (GRCm39) |
K206R |
probably benign |
Het |
Lama2 |
T |
C |
10: 26,862,793 (GRCm39) |
D2990G |
probably benign |
Het |
Magi3 |
G |
A |
3: 103,928,382 (GRCm39) |
|
probably benign |
Het |
Mamdc2 |
A |
T |
19: 23,281,267 (GRCm39) |
|
probably benign |
Het |
Med23 |
T |
G |
10: 24,750,499 (GRCm39) |
S109A |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mtss2 |
A |
G |
8: 111,455,362 (GRCm39) |
K92E |
possibly damaging |
Het |
Mybphl |
A |
G |
3: 108,272,317 (GRCm39) |
E2G |
probably damaging |
Het |
Naip6 |
A |
G |
13: 100,420,067 (GRCm39) |
V1401A |
possibly damaging |
Het |
Ncapg2 |
A |
G |
12: 116,393,296 (GRCm39) |
E500G |
probably damaging |
Het |
Nlrp12 |
T |
C |
7: 3,282,575 (GRCm39) |
I775V |
probably benign |
Het |
Nr4a2 |
T |
A |
2: 57,002,018 (GRCm39) |
D145V |
possibly damaging |
Het |
Ntmt1 |
C |
A |
2: 30,710,472 (GRCm39) |
N58K |
probably benign |
Het |
P2ry13 |
T |
C |
3: 59,117,449 (GRCm39) |
M110V |
probably damaging |
Het |
P2ry14 |
T |
C |
3: 59,022,992 (GRCm39) |
N165S |
probably damaging |
Het |
Plch2 |
T |
C |
4: 155,077,461 (GRCm39) |
E423G |
probably benign |
Het |
Polq |
C |
A |
16: 36,882,515 (GRCm39) |
Q1560K |
possibly damaging |
Het |
Prrc1 |
G |
T |
18: 57,514,718 (GRCm39) |
D312Y |
probably damaging |
Het |
Ptprm |
A |
T |
17: 67,032,846 (GRCm39) |
|
probably null |
Het |
Ripk2 |
A |
T |
4: 16,152,011 (GRCm39) |
S183T |
possibly damaging |
Het |
Robo1 |
T |
A |
16: 72,775,660 (GRCm39) |
F728L |
probably benign |
Het |
Rttn |
A |
G |
18: 89,082,295 (GRCm39) |
N1407S |
probably benign |
Het |
Sec14l1 |
A |
T |
11: 117,047,314 (GRCm39) |
H664L |
probably damaging |
Het |
Slc10a7 |
G |
A |
8: 79,236,264 (GRCm39) |
G21S |
probably benign |
Het |
Slc35a3 |
T |
C |
3: 116,467,285 (GRCm39) |
K325E |
possibly damaging |
Het |
Spag17 |
C |
A |
3: 99,969,182 (GRCm39) |
|
probably null |
Het |
Spesp1 |
A |
T |
9: 62,180,834 (GRCm39) |
L25M |
probably damaging |
Het |
St6galnac1 |
G |
A |
11: 116,658,673 (GRCm39) |
Q264* |
probably null |
Het |
Tbc1d14 |
A |
G |
5: 36,700,561 (GRCm39) |
L269P |
possibly damaging |
Het |
Tgfbr3l |
A |
G |
8: 4,300,506 (GRCm39) |
E228G |
probably benign |
Het |
Tlr5 |
T |
A |
1: 182,802,600 (GRCm39) |
S635T |
possibly damaging |
Het |
Tmem233 |
G |
C |
5: 116,189,517 (GRCm39) |
|
probably benign |
Het |
Tnfsf13b |
A |
T |
8: 10,057,306 (GRCm39) |
R125S |
probably benign |
Het |
Tymp |
A |
T |
15: 89,258,011 (GRCm39) |
V378D |
probably damaging |
Het |
Vmn1r38 |
G |
T |
6: 66,753,433 (GRCm39) |
Q228K |
probably benign |
Het |
Vmn2r18 |
T |
C |
5: 151,510,127 (GRCm39) |
E82G |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,828,229 (GRCm39) |
V1461A |
possibly damaging |
Het |
Xrn1 |
A |
G |
9: 95,888,765 (GRCm39) |
D948G |
possibly damaging |
Het |
Zfp280d |
C |
A |
9: 72,209,052 (GRCm39) |
|
probably benign |
Het |
Zfp418 |
G |
A |
7: 7,185,807 (GRCm39) |
R590K |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGGCCCTATCTCTTTGGG -3'
(R):5'- ATCCTACCATGGCTTTGTGAC -3'
Sequencing Primer
(F):5'- GGGTCCTCAGGATGAATCTCAG -3'
(R):5'- GTGACTTGGTGCAAACTACCTAGC -3'
|
Posted On |
2014-10-16 |