Incidental Mutation 'R9382:Grid2ip'
| ID |
710098 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R9382 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
143343085-143377534 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to G
at 143361103 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106361
(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 null
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
G |
A |
11: 109,870,711 (GRCm39) |
S147L |
probably benign |
Het |
| Abraxas1 |
A |
G |
5: 100,957,649 (GRCm39) |
V190A |
probably benign |
Het |
| Aoc1l2 |
A |
T |
6: 48,907,298 (GRCm39) |
K99N |
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,104,501 (GRCm39) |
H559Q |
possibly damaging |
Het |
| Arhgap31 |
C |
T |
16: 38,422,988 (GRCm39) |
G1026D |
probably benign |
Het |
| C1ra |
T |
C |
6: 124,490,819 (GRCm39) |
F71L |
probably benign |
Het |
| C530025M09Rik |
T |
C |
2: 149,672,640 (GRCm39) |
H165R |
unknown |
Het |
| Celf2 |
A |
T |
2: 6,726,404 (GRCm39) |
M43K |
probably damaging |
Het |
| Celsr3 |
T |
C |
9: 108,706,961 (GRCm39) |
V1148A |
possibly damaging |
Het |
| Cmya5 |
T |
G |
13: 93,229,884 (GRCm39) |
K1735Q |
probably benign |
Het |
| Cntln |
A |
C |
4: 84,968,318 (GRCm39) |
M846L |
probably benign |
Het |
| Cntn5 |
T |
C |
9: 9,673,817 (GRCm39) |
T762A |
probably benign |
Het |
| Col11a1 |
T |
A |
3: 113,899,046 (GRCm39) |
L525Q |
unknown |
Het |
| Col12a1 |
T |
C |
9: 79,589,364 (GRCm39) |
T1064A |
probably benign |
Het |
| Cyc1 |
T |
C |
15: 76,229,273 (GRCm39) |
V211A |
possibly damaging |
Het |
| Ddx56 |
A |
G |
11: 6,215,516 (GRCm39) |
S296P |
probably damaging |
Het |
| Deptor |
A |
T |
15: 54,975,798 (GRCm39) |
|
probably benign |
Het |
| Ezh1 |
C |
T |
11: 101,094,265 (GRCm39) |
R409H |
possibly damaging |
Het |
| Fam228b |
T |
A |
12: 4,798,147 (GRCm39) |
E190V |
probably damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,237,210 (GRCm39) |
L635H |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,901,622 (GRCm39) |
L969F |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,858,433 (GRCm39) |
R232G |
probably benign |
Het |
| Gpr26 |
G |
A |
7: 131,568,963 (GRCm39) |
D103N |
probably damaging |
Het |
| Ints7 |
T |
C |
1: 191,351,793 (GRCm39) |
V834A |
probably damaging |
Het |
| Kcnh7 |
T |
A |
2: 62,667,612 (GRCm39) |
H309L |
probably benign |
Het |
| Mael |
T |
C |
1: 166,053,282 (GRCm39) |
E241G |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,122,277 (GRCm39) |
E584V |
|
Het |
| Nexn |
C |
T |
3: 151,959,401 (GRCm39) |
V23M |
probably damaging |
Het |
| Npas1 |
T |
C |
7: 16,190,231 (GRCm39) |
|
probably null |
Het |
| Or51f1 |
T |
C |
7: 102,506,014 (GRCm39) |
I158M |
probably benign |
Het |
| Pcdh17 |
T |
G |
14: 84,685,522 (GRCm39) |
V663G |
probably damaging |
Het |
| Pga5 |
C |
T |
19: 10,646,897 (GRCm39) |
G303S |
probably damaging |
Het |
| Poln |
T |
A |
5: 34,164,842 (GRCm39) |
K844N |
probably damaging |
Het |
| Prkar1b |
C |
T |
5: 139,036,442 (GRCm39) |
D227N |
probably damaging |
Het |
| Proc |
T |
A |
18: 32,256,336 (GRCm39) |
I444F |
probably damaging |
Het |
| Ptprn |
G |
T |
1: 75,229,135 (GRCm39) |
H791N |
probably benign |
Het |
| Ror1 |
T |
C |
4: 100,191,709 (GRCm39) |
S160P |
probably benign |
Het |
| Satb2 |
T |
A |
1: 56,870,797 (GRCm39) |
|
probably null |
Het |
| Slc43a3 |
C |
T |
2: 84,780,771 (GRCm39) |
A332V |
probably benign |
Het |
| Sp100 |
G |
A |
1: 85,627,336 (GRCm39) |
V410M |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,217,346 (GRCm39) |
T989A |
probably benign |
Het |
| Ssc5d |
T |
C |
7: 4,930,283 (GRCm39) |
|
probably null |
Het |
| Tll2 |
A |
G |
19: 41,116,997 (GRCm39) |
Y273H |
probably benign |
Het |
| Tub |
T |
C |
7: 108,626,211 (GRCm39) |
V295A |
possibly damaging |
Het |
| Unc13b |
T |
A |
4: 43,172,512 (GRCm39) |
D1113E |
unknown |
Het |
| Usp9y |
C |
A |
Y: 1,364,776 (GRCm39) |
M1012I |
probably benign |
Het |
| Vmn1r238 |
A |
G |
18: 3,122,676 (GRCm39) |
V246A |
probably damaging |
Het |
| Vmn2r88 |
T |
G |
14: 51,656,197 (GRCm39) |
V802G |
|
Het |
| Wnt7b |
T |
C |
15: 85,443,175 (GRCm39) |
Q76R |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,389,917 (GRCm39) |
R4852G |
unknown |
Het |
| Zfp618 |
A |
T |
4: 63,051,258 (GRCm39) |
T680S |
probably damaging |
Het |
| Zfp784 |
T |
A |
7: 5,041,338 (GRCm39) |
D25V |
unknown |
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 |
|
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 |
|
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'- GCTACTCCTGAGTGAATGGTG -3'
(R):5'- AGAGAATCTGAATCTGCGGG -3'
Sequencing Primer
(F):5'- CTCCTGAGTGAATGGTGGGTTTATTG -3'
(R):5'- CACAGGCATGGGGAGGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation