Incidental Mutation 'R6014:Grid2ip'
| ID |
479911 |
| 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 |
044190-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R6014 (G1)
|
| Quality Score |
212.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
143343085-143377534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143373578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 783
(M783K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010969]
[ENSMUST00000110733]
[ENSMUST00000120825]
|
| AlphaFold |
Q0QWG9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000010969
AA Change: M783K
PolyPhen 2
Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000010969
Gene: ENSMUSG00000010825
AA Change: M783K
| 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 |
possibly damaging
Transcript: ENSMUST00000110733
AA Change: M962K
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106361
Gene: ENSMUSG00000010825
AA Change: M962K
| 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 |
possibly damaging
Transcript: ENSMUST00000120825
AA Change: M790K
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113443
Gene: ENSMUSG00000010825
AA Change: M790K
| 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 |
0.8517 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (67/67) |
| 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 |
|---|
| 4930568D16Rik |
A |
T |
2: 35,244,881 (GRCm39) |
M157K |
probably benign |
Het |
| A2ml1 |
C |
T |
6: 128,548,948 (GRCm39) |
C278Y |
probably damaging |
Het |
| Abcc2 |
A |
T |
19: 43,815,174 (GRCm39) |
Q1187L |
probably benign |
Het |
| Adcy9 |
A |
T |
16: 4,236,683 (GRCm39) |
Y6N |
probably damaging |
Het |
| Adh1 |
T |
C |
3: 137,992,559 (GRCm39) |
I225T |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,749,939 (GRCm39) |
I816K |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,969,364 (GRCm39) |
M240K |
possibly damaging |
Het |
| Apex1 |
A |
T |
14: 51,162,982 (GRCm39) |
T17S |
probably benign |
Het |
| Arhgap21 |
C |
T |
2: 20,886,616 (GRCm39) |
G26D |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,180,615 (GRCm39) |
Y2613C |
probably benign |
Het |
| Baz1b |
C |
T |
5: 135,246,248 (GRCm39) |
R566W |
probably damaging |
Het |
| Casp8ap2 |
A |
T |
4: 32,641,400 (GRCm39) |
Y818F |
probably damaging |
Het |
| Col3a1 |
T |
A |
1: 45,360,739 (GRCm39) |
C56* |
probably null |
Het |
| Coro2a |
G |
A |
4: 46,542,261 (GRCm39) |
P371S |
probably damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,638,605 (GRCm39) |
|
probably null |
Het |
| Dpysl3 |
T |
A |
18: 43,494,132 (GRCm39) |
I183F |
probably damaging |
Het |
| Drc1 |
A |
T |
5: 30,502,993 (GRCm39) |
N172I |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,303,915 (GRCm39) |
Y1378H |
probably damaging |
Het |
| Dync2i2 |
C |
T |
2: 29,921,763 (GRCm39) |
A533T |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Epb41l3 |
A |
T |
17: 69,590,955 (GRCm39) |
T91S |
probably damaging |
Het |
| Exoc4 |
T |
C |
6: 33,452,932 (GRCm39) |
V474A |
probably benign |
Het |
| Fam229b |
G |
A |
10: 38,994,989 (GRCm39) |
T56I |
probably damaging |
Het |
| Gfm2 |
A |
G |
13: 97,288,169 (GRCm39) |
|
probably null |
Het |
| Git2 |
C |
T |
5: 114,871,938 (GRCm39) |
E152K |
probably benign |
Het |
| Golt1b |
T |
A |
6: 142,341,943 (GRCm39) |
I109N |
probably damaging |
Het |
| Inpp5a |
A |
G |
7: 139,154,898 (GRCm39) |
Y339C |
probably damaging |
Het |
| Isoc2a |
T |
C |
7: 4,894,625 (GRCm39) |
S103P |
probably damaging |
Het |
| Itih4 |
C |
A |
14: 30,614,586 (GRCm39) |
Q483K |
probably benign |
Het |
| Kansl2 |
A |
G |
15: 98,418,197 (GRCm39) |
|
probably null |
Het |
| Kdm5d |
G |
A |
Y: 921,528 (GRCm39) |
A509T |
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,008,437 (GRCm39) |
D433E |
unknown |
Het |
| Lat2 |
C |
T |
5: 134,632,308 (GRCm39) |
V142M |
probably damaging |
Het |
| Lemd1 |
A |
C |
1: 132,184,463 (GRCm39) |
*102S |
probably null |
Het |
| Lrfn2 |
T |
C |
17: 49,376,934 (GRCm39) |
L5P |
possibly damaging |
Het |
| Lrrc4c |
T |
G |
2: 97,459,557 (GRCm39) |
|
probably null |
Het |
| Lypla1 |
T |
A |
1: 4,878,594 (GRCm39) |
|
probably null |
Het |
| Magi2 |
G |
A |
5: 20,816,091 (GRCm39) |
G744R |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,274,502 (GRCm39) |
E948V |
probably null |
Het |
| Myo5a |
C |
A |
9: 75,074,489 (GRCm39) |
Y799* |
probably null |
Het |
| Nacc1 |
A |
C |
8: 85,401,700 (GRCm39) |
M371R |
possibly damaging |
Het |
| Nlrp5 |
T |
G |
7: 23,109,372 (GRCm39) |
M106R |
probably benign |
Het |
| Oas1h |
C |
T |
5: 121,005,229 (GRCm39) |
H226Y |
possibly damaging |
Het |
| Obscn |
A |
C |
11: 58,929,690 (GRCm39) |
I5175R |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 57,878,497 (GRCm39) |
I684N |
probably damaging |
Het |
| Pcdhb3 |
T |
A |
18: 37,435,706 (GRCm39) |
N557K |
probably damaging |
Het |
| Pde3b |
T |
C |
7: 114,015,675 (GRCm39) |
L297S |
probably damaging |
Het |
| Pigv |
G |
T |
4: 133,392,740 (GRCm39) |
H143Q |
probably benign |
Het |
| Ptk2 |
T |
G |
15: 73,176,293 (GRCm39) |
Y251S |
possibly damaging |
Het |
| Ralgds |
A |
G |
2: 28,433,673 (GRCm39) |
N219S |
probably damaging |
Het |
| Sardh |
C |
A |
2: 27,087,540 (GRCm39) |
|
probably null |
Het |
| Serpina3b |
A |
T |
12: 104,097,356 (GRCm39) |
K212N |
possibly damaging |
Het |
| Sh3bp2 |
A |
G |
5: 34,716,971 (GRCm39) |
N461D |
probably benign |
Het |
| Shisa2 |
A |
T |
14: 59,867,357 (GRCm39) |
Q203L |
probably damaging |
Het |
| Shmt1 |
C |
A |
11: 60,688,383 (GRCm39) |
G255V |
probably damaging |
Het |
| Socs1 |
T |
A |
16: 10,602,357 (GRCm39) |
I127F |
possibly damaging |
Het |
| Srcap |
A |
T |
7: 127,137,922 (GRCm39) |
T1091S |
probably benign |
Het |
| Syt14 |
A |
G |
1: 192,613,003 (GRCm39) |
I599T |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,084,457 (GRCm39) |
N907K |
probably benign |
Het |
| Themis2 |
A |
G |
4: 132,513,291 (GRCm39) |
Y312H |
probably benign |
Het |
| Tubgcp5 |
T |
G |
7: 55,473,357 (GRCm39) |
S812A |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,582,237 (GRCm39) |
I3767F |
probably damaging |
Het |
| Usp40 |
T |
A |
1: 87,907,738 (GRCm39) |
E626V |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,566,620 (GRCm39) |
R1181G |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,698,535 (GRCm39) |
I13F |
probably damaging |
Het |
| Wdr48 |
G |
T |
9: 119,753,775 (GRCm39) |
V646F |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,633,556 (GRCm39) |
F936L |
possibly 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 |
|
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'- TCTCACTTTAGGTCAAGGCAG -3'
(R):5'- CCTCCCCATGTGTAGGTTTTGG -3'
Sequencing Primer
(F):5'- AGACGCGATGAGATTGTTCCC -3'
(R):5'- GCCCCAGGAGACAAAAAGATCAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation