Incidental Mutation 'R3196:Grid2ip'
ID |
267640 |
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 |
040617-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R3196 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
143343085-143377534 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 143373933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 858
(I858V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000010969
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010969]
[ENSMUST00000110733]
[ENSMUST00000120825]
|
AlphaFold |
Q0QWG9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000010969
AA Change: I858V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000010969 Gene: ENSMUSG00000010825 AA Change: I858V
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: I1037V
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000106361 Gene: ENSMUSG00000010825 AA Change: I1037V
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: I865V
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113443 Gene: ENSMUSG00000010825 AA Change: I865V
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
A |
T |
15: 57,892,132 (GRCm39) |
N158K |
probably benign |
Het |
Acnat1 |
G |
C |
4: 49,447,457 (GRCm39) |
P357A |
probably damaging |
Het |
Akap6 |
T |
A |
12: 53,119,240 (GRCm39) |
C1102* |
probably null |
Het |
Amelx |
T |
C |
X: 167,964,826 (GRCm39) |
|
probably benign |
Het |
Brap |
G |
A |
5: 121,803,259 (GRCm39) |
V136I |
possibly damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Csgalnact1 |
TGG |
TG |
8: 68,913,737 (GRCm39) |
|
probably null |
Het |
Csk |
A |
T |
9: 57,537,556 (GRCm39) |
C119* |
probably null |
Het |
Dcbld1 |
T |
C |
10: 52,195,587 (GRCm39) |
L265P |
probably damaging |
Het |
Desi1 |
T |
A |
15: 81,887,976 (GRCm39) |
K31N |
probably damaging |
Het |
Dpy19l2 |
C |
A |
9: 24,607,285 (GRCm39) |
G59C |
probably damaging |
Het |
Eif2b5 |
T |
C |
16: 20,324,272 (GRCm39) |
V498A |
probably benign |
Het |
Epdr1 |
A |
T |
13: 19,778,815 (GRCm39) |
Y94N |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,404,905 (GRCm39) |
V552A |
probably benign |
Het |
Focad |
A |
G |
4: 88,325,588 (GRCm39) |
E151G |
possibly damaging |
Het |
Frem1 |
A |
G |
4: 82,932,351 (GRCm39) |
F117L |
probably damaging |
Het |
Frem2 |
A |
T |
3: 53,444,752 (GRCm39) |
Y2460N |
probably damaging |
Het |
Gm3604 |
A |
T |
13: 62,517,868 (GRCm39) |
C163* |
probably null |
Het |
Gpalpp1 |
A |
C |
14: 76,336,063 (GRCm39) |
|
probably null |
Het |
Grin2b |
ATTGTTGT |
ATTGT |
6: 135,709,453 (GRCm39) |
|
probably benign |
Het |
Hps4 |
A |
G |
5: 112,512,429 (GRCm39) |
T182A |
probably damaging |
Het |
Impa1 |
A |
T |
3: 10,394,075 (GRCm39) |
|
probably null |
Het |
Kcnh3 |
T |
C |
15: 99,131,862 (GRCm39) |
S606P |
probably damaging |
Het |
Kif23 |
T |
A |
9: 61,839,193 (GRCm39) |
R301* |
probably null |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Lcp2 |
G |
T |
11: 34,040,670 (GRCm39) |
A529S |
probably benign |
Het |
Lhx8 |
G |
A |
3: 154,035,925 (GRCm39) |
A22V |
probably benign |
Het |
Lin28a |
A |
T |
4: 133,735,235 (GRCm39) |
S134T |
possibly damaging |
Het |
Med27 |
T |
A |
2: 29,236,882 (GRCm39) |
V9E |
possibly damaging |
Het |
Mmp7 |
C |
A |
9: 7,692,219 (GRCm39) |
S31R |
probably benign |
Het |
Mtcl1 |
T |
G |
17: 66,650,829 (GRCm39) |
E1545D |
probably benign |
Het |
Muc16 |
A |
G |
9: 18,409,126 (GRCm39) |
Y187H |
probably damaging |
Het |
Myo3a |
G |
T |
2: 22,404,679 (GRCm39) |
K678N |
possibly damaging |
Het |
Nsmce1 |
T |
C |
7: 125,085,645 (GRCm39) |
M15V |
probably benign |
Het |
Nxpe3 |
A |
T |
16: 55,670,078 (GRCm39) |
N342K |
probably damaging |
Het |
Or7g25 |
A |
G |
9: 19,160,495 (GRCm39) |
S67P |
probably damaging |
Het |
Or8g2 |
T |
A |
9: 39,821,756 (GRCm39) |
I219N |
probably damaging |
Het |
Pcdhb9 |
A |
G |
18: 37,534,663 (GRCm39) |
N219S |
probably benign |
Het |
Pck2 |
T |
A |
14: 55,781,449 (GRCm39) |
V190E |
probably damaging |
Het |
Pde4b |
G |
A |
4: 102,456,840 (GRCm39) |
A429T |
probably damaging |
Het |
Phf1 |
T |
C |
17: 27,153,429 (GRCm39) |
V54A |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,353,127 (GRCm39) |
E278G |
probably damaging |
Het |
Ptges3 |
G |
T |
10: 127,908,016 (GRCm39) |
R122L |
probably benign |
Het |
Rnpepl1 |
C |
T |
1: 92,844,881 (GRCm39) |
T391I |
probably damaging |
Het |
Rps6kb1 |
G |
A |
11: 86,397,633 (GRCm39) |
A404V |
probably benign |
Het |
Rrm2b |
T |
C |
15: 37,945,391 (GRCm39) |
|
probably null |
Het |
Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
Skint9 |
T |
G |
4: 112,248,148 (GRCm39) |
I199L |
probably benign |
Het |
Slc9b2 |
G |
T |
3: 135,042,290 (GRCm39) |
R523L |
probably benign |
Het |
Slco1c1 |
T |
A |
6: 141,477,174 (GRCm39) |
|
probably null |
Het |
Stox2 |
T |
C |
8: 47,645,865 (GRCm39) |
T532A |
probably damaging |
Het |
Tbcel |
A |
G |
9: 42,327,248 (GRCm39) |
L385P |
probably damaging |
Het |
Tle5 |
A |
G |
10: 81,401,474 (GRCm39) |
N181D |
probably benign |
Het |
Tmem268 |
G |
A |
4: 63,496,149 (GRCm39) |
|
probably null |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Top3a |
G |
A |
11: 60,650,182 (GRCm39) |
T122M |
probably damaging |
Het |
Trav7n-4 |
G |
A |
14: 53,329,088 (GRCm39) |
V33I |
probably benign |
Het |
Ttn |
T |
G |
2: 76,539,551 (GRCm39) |
E26151D |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,687,228 (GRCm39) |
|
probably benign |
Het |
Tyk2 |
A |
G |
9: 21,035,328 (GRCm39) |
C195R |
possibly damaging |
Het |
Ugt2b38 |
T |
C |
5: 87,558,078 (GRCm39) |
K528E |
probably damaging |
Het |
Usp28 |
T |
A |
9: 48,937,125 (GRCm39) |
D483E |
probably benign |
Het |
Vldlr |
A |
G |
19: 27,220,554 (GRCm39) |
D598G |
probably damaging |
Het |
Vmn1r51 |
T |
G |
6: 90,106,498 (GRCm39) |
I138S |
probably damaging |
Het |
Vps13b |
G |
A |
15: 35,869,541 (GRCm39) |
A2682T |
probably damaging |
Het |
Wac |
T |
A |
18: 7,917,568 (GRCm39) |
V346E |
probably damaging |
Het |
Zdbf2 |
T |
C |
1: 63,347,579 (GRCm39) |
V1986A |
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 |
|
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'- AGGTCAAGCCATTCCCATC -3'
(R):5'- ACCCAGGGGAAGAACTTTGTG -3'
Sequencing Primer
(F):5'- AAGCCATTCCCATCCCTGTTTG -3'
(R):5'- GTGAGCCATGATCTTATTCAGC -3'
|
Posted On |
2015-02-18 |