Incidental Mutation 'R6076:Grid2ip'
ID |
482739 |
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 |
044237-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R6076 (G1)
|
Quality Score |
169.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
143343085-143377534 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 143373130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 736
(S736T)
|
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: S736T
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000010969 Gene: ENSMUSG00000010825 AA Change: S736T
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: S915T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000106361 Gene: ENSMUSG00000010825 AA Change: S915T
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: S743T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113443 Gene: ENSMUSG00000010825 AA Change: S743T
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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
Atp6v0a1 |
T |
A |
11: 100,945,886 (GRCm39) |
I723N |
probably damaging |
Het |
C530025M09Rik |
T |
C |
2: 149,672,670 (GRCm39) |
|
probably benign |
Het |
Cdkn1a |
A |
G |
17: 29,318,332 (GRCm39) |
K149E |
probably damaging |
Het |
Cep70 |
T |
A |
9: 99,180,558 (GRCm39) |
I571N |
probably damaging |
Het |
Cimip4 |
T |
C |
15: 78,270,427 (GRCm39) |
R114G |
possibly damaging |
Het |
Col9a1 |
A |
T |
1: 24,234,457 (GRCm39) |
|
probably benign |
Het |
Csde1 |
G |
A |
3: 102,948,545 (GRCm39) |
D132N |
possibly damaging |
Het |
Dlk1 |
A |
G |
12: 109,425,895 (GRCm39) |
Q256R |
probably damaging |
Het |
Epha6 |
A |
T |
16: 60,026,073 (GRCm39) |
D456E |
probably damaging |
Het |
Ephx2 |
A |
G |
14: 66,330,297 (GRCm39) |
V354A |
probably damaging |
Het |
Fpr-rs4 |
A |
G |
17: 18,242,317 (GRCm39) |
N108S |
probably damaging |
Het |
Gimap1 |
C |
T |
6: 48,719,521 (GRCm39) |
Q116* |
probably null |
Het |
Gm10784 |
T |
C |
13: 50,099,310 (GRCm39) |
|
noncoding transcript |
Het |
Hic1 |
T |
C |
11: 75,058,154 (GRCm39) |
D245G |
probably damaging |
Het |
Hpcal4 |
C |
A |
4: 123,084,514 (GRCm39) |
Q148K |
probably benign |
Het |
Hspa14 |
C |
T |
2: 3,512,109 (GRCm39) |
S55N |
probably benign |
Het |
Hspa1b |
G |
A |
17: 35,176,473 (GRCm39) |
T504I |
probably damaging |
Het |
Jchain |
G |
T |
5: 88,675,631 (GRCm39) |
T3N |
probably benign |
Het |
Kl |
C |
G |
5: 150,876,466 (GRCm39) |
F95L |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,481,954 (GRCm39) |
T115A |
probably damaging |
Het |
Lrp8 |
G |
T |
4: 107,704,656 (GRCm39) |
R292L |
possibly damaging |
Het |
Lrrc15 |
T |
A |
16: 30,091,806 (GRCm39) |
D511V |
probably benign |
Het |
Mapk8 |
A |
G |
14: 33,112,250 (GRCm39) |
C213R |
probably damaging |
Het |
Mcph1 |
C |
T |
8: 18,682,015 (GRCm39) |
P384L |
probably benign |
Het |
Mrps7 |
T |
C |
11: 115,495,713 (GRCm39) |
S84P |
probably damaging |
Het |
Nceh1 |
A |
C |
3: 27,333,344 (GRCm39) |
I147L |
probably benign |
Het |
Noxa1 |
A |
T |
2: 24,975,821 (GRCm39) |
I409N |
probably damaging |
Het |
Or1p1c |
T |
C |
11: 74,161,088 (GRCm39) |
I291T |
probably damaging |
Het |
Pkd1 |
G |
A |
17: 24,800,004 (GRCm39) |
G2975R |
probably benign |
Het |
Ppip5k1 |
T |
C |
2: 121,167,591 (GRCm39) |
D17G |
probably null |
Het |
Prex2 |
T |
A |
1: 11,256,174 (GRCm39) |
Y1182N |
probably benign |
Het |
Rasa2 |
T |
C |
9: 96,427,699 (GRCm39) |
N722S |
probably benign |
Het |
Rcc1l |
A |
G |
5: 134,198,167 (GRCm39) |
V155A |
possibly damaging |
Het |
Rest |
A |
G |
5: 77,430,821 (GRCm39) |
E1080G |
unknown |
Het |
Sacs |
A |
T |
14: 61,441,985 (GRCm39) |
K1344* |
probably null |
Het |
Sec16a |
C |
T |
2: 26,313,954 (GRCm39) |
E1884K |
probably damaging |
Het |
Secisbp2 |
C |
A |
13: 51,833,813 (GRCm39) |
T651K |
probably damaging |
Het |
Sema3e |
A |
G |
5: 14,291,100 (GRCm39) |
D620G |
probably benign |
Het |
Slc6a17 |
A |
G |
3: 107,379,387 (GRCm39) |
S553P |
possibly damaging |
Het |
Smpd5 |
C |
A |
15: 76,179,092 (GRCm39) |
N153K |
probably damaging |
Het |
Ube2d4 |
T |
A |
15: 58,718,992 (GRCm39) |
|
noncoding transcript |
Het |
Vps13c |
A |
G |
9: 67,818,884 (GRCm39) |
I1102V |
probably damaging |
Het |
Wdr36 |
C |
A |
18: 32,979,998 (GRCm39) |
S241Y |
probably damaging |
Het |
Wdr7 |
T |
A |
18: 63,872,348 (GRCm39) |
D427E |
probably damaging |
Het |
Zfp945 |
G |
A |
17: 23,070,432 (GRCm39) |
P489L |
probably 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 |
R6014:Grid2ip
|
UTSW |
5 |
143,373,578 (GRCm39) |
missense |
possibly damaging |
0.84 |
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'- AAAGCCCTTCTCCGCTAGGTAC -3'
(R):5'- AGCCAACTTCTGACTGCAG -3'
Sequencing Primer
(F):5'- CGCTAGGTACTTCTCTCAGGC -3'
(R):5'- AAGGAGCCCTAGCCATGGTG -3'
|
Posted On |
2017-07-14 |