Incidental Mutation 'R4696:Grid2ip'
ID |
355688 |
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 |
041946-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R4696 (G1)
|
Quality Score |
92 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
143343085-143377534 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 143377131 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113443
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010969]
[ENSMUST00000110733]
[ENSMUST00000120825]
|
AlphaFold |
Q0QWG9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000010969
|
SMART Domains |
Protein: ENSMUSP00000010969 Gene: ENSMUSG00000010825
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
|
SMART Domains |
Protein: ENSMUSP00000106361 Gene: ENSMUSG00000010825
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
|
SMART Domains |
Protein: ENSMUSP00000113443 Gene: ENSMUSG00000010825
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: ENSMUST00000196584
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198312
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
99% (74/75) |
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 |
Abcc3 |
T |
C |
11: 94,241,817 (GRCm39) |
S1405G |
probably benign |
Het |
Acaca |
T |
C |
11: 84,171,261 (GRCm39) |
V1165A |
possibly damaging |
Het |
Acin1 |
C |
A |
14: 54,880,474 (GRCm39) |
|
probably benign |
Het |
Akr1b8 |
G |
A |
6: 34,340,312 (GRCm39) |
V159I |
probably benign |
Het |
Alms1 |
T |
C |
6: 85,597,504 (GRCm39) |
Y777H |
probably damaging |
Het |
Cblc |
C |
A |
7: 19,530,407 (GRCm39) |
G101C |
probably damaging |
Het |
Cdc42ep5 |
G |
A |
7: 4,154,614 (GRCm39) |
P58L |
possibly damaging |
Het |
Cic |
A |
G |
7: 24,987,908 (GRCm39) |
N1532S |
probably benign |
Het |
Cipc |
T |
A |
12: 86,999,714 (GRCm39) |
|
probably benign |
Het |
Clca4b |
T |
C |
3: 144,617,146 (GRCm39) |
I835V |
probably benign |
Het |
Cntrob |
C |
T |
11: 69,211,714 (GRCm39) |
G170D |
probably damaging |
Het |
Col14a1 |
A |
G |
15: 55,235,998 (GRCm39) |
Q304R |
unknown |
Het |
Csmd3 |
T |
C |
15: 47,777,364 (GRCm39) |
T1181A |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,413,834 (GRCm39) |
F994L |
probably damaging |
Het |
Ddx42 |
C |
A |
11: 106,138,529 (GRCm39) |
A776D |
probably benign |
Het |
Disp2 |
G |
T |
2: 118,622,165 (GRCm39) |
E966* |
probably null |
Het |
Dmpk |
A |
T |
7: 18,822,139 (GRCm39) |
N366Y |
probably damaging |
Het |
Dmrt1 |
A |
G |
19: 25,580,674 (GRCm39) |
Y362C |
possibly damaging |
Het |
Dock10 |
C |
T |
1: 80,493,330 (GRCm39) |
G1880D |
possibly damaging |
Het |
Dzip1l |
A |
G |
9: 99,545,664 (GRCm39) |
R638G |
possibly damaging |
Het |
Dzip3 |
T |
A |
16: 48,746,332 (GRCm39) |
|
probably benign |
Het |
Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
Eno4 |
T |
C |
19: 58,934,068 (GRCm39) |
S90P |
probably damaging |
Het |
Epn2 |
C |
G |
11: 61,426,129 (GRCm39) |
A283P |
probably damaging |
Het |
Eya3 |
T |
A |
4: 132,397,543 (GRCm39) |
Y67* |
probably null |
Het |
Fat2 |
T |
C |
11: 55,175,841 (GRCm39) |
N1624S |
probably benign |
Het |
Fez1 |
T |
A |
9: 36,781,766 (GRCm39) |
|
probably null |
Het |
Fgfr1 |
T |
C |
8: 26,053,504 (GRCm39) |
S260P |
probably damaging |
Het |
Glb1 |
A |
G |
9: 114,293,220 (GRCm39) |
S532G |
probably benign |
Het |
Gm15455 |
A |
T |
1: 33,876,874 (GRCm39) |
|
noncoding transcript |
Het |
Guca2b |
C |
A |
4: 119,513,996 (GRCm39) |
G129V |
probably damaging |
Het |
Hes3 |
T |
C |
4: 152,372,124 (GRCm39) |
E65G |
probably damaging |
Het |
Itgbl1 |
T |
C |
14: 124,204,120 (GRCm39) |
C404R |
probably damaging |
Het |
Kansl1 |
C |
T |
11: 104,247,593 (GRCm39) |
V586I |
possibly damaging |
Het |
Krt18 |
A |
G |
15: 101,940,293 (GRCm39) |
D390G |
probably benign |
Het |
Laptm5 |
T |
C |
4: 130,660,982 (GRCm39) |
|
probably benign |
Het |
Lgals3bp |
C |
T |
11: 118,288,977 (GRCm39) |
E116K |
probably benign |
Het |
Lrrc39 |
C |
T |
3: 116,363,769 (GRCm39) |
S114F |
probably damaging |
Het |
Mfap3 |
T |
C |
11: 57,419,117 (GRCm39) |
|
probably null |
Het |
Nphp3 |
A |
G |
9: 103,899,931 (GRCm39) |
H481R |
probably benign |
Het |
Ntm |
T |
C |
9: 29,090,501 (GRCm39) |
T73A |
possibly damaging |
Het |
Or5m13b |
T |
A |
2: 85,749,215 (GRCm39) |
|
probably null |
Het |
Or8g4 |
T |
A |
9: 39,662,024 (GRCm39) |
M114K |
probably damaging |
Het |
Pbk |
G |
A |
14: 66,049,386 (GRCm39) |
C21Y |
probably benign |
Het |
Pglyrp1 |
A |
G |
7: 18,618,871 (GRCm39) |
E74G |
probably benign |
Het |
R3hdm1 |
G |
T |
1: 128,164,503 (GRCm39) |
|
probably benign |
Het |
Rap1gds1 |
T |
C |
3: 138,633,375 (GRCm39) |
T599A |
probably damaging |
Het |
Rigi |
A |
G |
4: 40,203,798 (GRCm39) |
|
probably benign |
Het |
Rims1 |
A |
T |
1: 22,358,836 (GRCm39) |
M1273K |
probably damaging |
Het |
Sbf1 |
G |
A |
15: 89,187,315 (GRCm39) |
R721* |
probably null |
Het |
Slc17a1 |
T |
C |
13: 24,064,700 (GRCm39) |
I388T |
probably damaging |
Het |
Sprn |
A |
C |
7: 139,733,469 (GRCm39) |
|
probably benign |
Het |
Tango6 |
T |
C |
8: 107,426,863 (GRCm39) |
V459A |
possibly damaging |
Het |
Tert |
C |
T |
13: 73,775,939 (GRCm39) |
T230I |
probably benign |
Het |
Thada |
T |
C |
17: 84,733,614 (GRCm39) |
D1011G |
possibly damaging |
Het |
Tln2 |
C |
T |
9: 67,302,743 (GRCm39) |
R76Q |
probably damaging |
Het |
Trip11 |
A |
T |
12: 101,851,549 (GRCm39) |
N838K |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,597,997 (GRCm39) |
W19639R |
probably damaging |
Het |
Ubr4 |
T |
A |
4: 139,135,983 (GRCm39) |
S924T |
probably benign |
Het |
Upb1 |
A |
G |
10: 75,250,861 (GRCm39) |
E110G |
probably benign |
Het |
Vegfa |
C |
T |
17: 46,339,272 (GRCm39) |
|
probably null |
Het |
Vmn1r231 |
T |
C |
17: 21,110,901 (GRCm39) |
K5E |
possibly damaging |
Het |
Vmn2r16 |
A |
T |
5: 109,487,168 (GRCm39) |
I130F |
probably benign |
Het |
Wscd2 |
T |
A |
5: 113,689,240 (GRCm39) |
V82E |
probably benign |
Het |
Zfp462 |
A |
G |
4: 55,008,612 (GRCm39) |
T193A |
probably benign |
Het |
Zfp467 |
A |
G |
6: 48,416,291 (GRCm39) |
|
probably benign |
Het |
Zfp619 |
T |
C |
7: 39,186,412 (GRCm39) |
L814P |
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 |
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'- GGCATCTTTTCAGAATTCATGAGC -3'
(R):5'- CCAAGGTGCATGGTCAAGTAC -3'
Sequencing Primer
(F):5'- TTCATGAGCAAATTTGAGGTGAGCC -3'
(R):5'- TCAAGTACCCTGGACCCTGTG -3'
|
Posted On |
2015-10-21 |