Incidental Mutation 'R6439:Grid2ip'
ID |
518932 |
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 |
044577-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.121)
|
Stock # |
R6439 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
143343085-143377534 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 143359257 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 291
(E291V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106361
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010969]
[ENSMUST00000110733]
[ENSMUST00000120825]
|
AlphaFold |
Q0QWG9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000010969
AA Change: E112V
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000010969 Gene: ENSMUSG00000010825 AA Change: E112V
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 damaging
Transcript: ENSMUST00000110733
AA Change: E291V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000106361 Gene: ENSMUSG00000010825 AA Change: E291V
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 damaging
Transcript: ENSMUST00000120825
AA Change: E119V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113443 Gene: ENSMUSG00000010825 AA Change: E119V
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: ENSMUST00000138948
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196148
|
Meta Mutation Damage Score |
0.4727 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
Validation Efficiency |
100% (35/35) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130401M01Rik |
T |
C |
15: 57,895,444 (GRCm39) |
D18G |
probably null |
Het |
A530064D06Rik |
A |
G |
17: 48,473,653 (GRCm39) |
V88A |
probably damaging |
Het |
Abhd6 |
T |
C |
14: 8,055,589 (GRCm38) |
L272P |
probably damaging |
Het |
Adam25 |
C |
T |
8: 41,207,627 (GRCm39) |
R298C |
possibly damaging |
Het |
Adam34l |
T |
C |
8: 44,078,988 (GRCm39) |
N412S |
probably damaging |
Het |
Afap1l2 |
T |
C |
19: 56,916,818 (GRCm39) |
N219D |
possibly damaging |
Het |
Brd3 |
A |
G |
2: 27,353,938 (GRCm39) |
F58S |
probably damaging |
Het |
Ceacam3 |
G |
A |
7: 16,892,253 (GRCm39) |
R332H |
possibly damaging |
Het |
Cfap57 |
C |
A |
4: 118,446,172 (GRCm39) |
|
probably null |
Het |
Chd2 |
A |
G |
7: 73,130,154 (GRCm39) |
F834L |
probably damaging |
Het |
Crocc2 |
A |
G |
1: 93,111,126 (GRCm39) |
K140E |
possibly damaging |
Het |
Fam117b |
A |
G |
1: 60,020,731 (GRCm39) |
T534A |
probably benign |
Het |
Fchsd1 |
C |
T |
18: 38,102,487 (GRCm39) |
V14I |
probably damaging |
Het |
Hbp1 |
A |
G |
12: 31,987,720 (GRCm39) |
L146S |
probably damaging |
Het |
Hr |
A |
G |
14: 70,799,276 (GRCm39) |
D616G |
possibly damaging |
Het |
Igfbp5 |
A |
C |
1: 72,902,300 (GRCm39) |
|
probably null |
Het |
Jak2 |
C |
T |
19: 29,287,022 (GRCm39) |
|
probably null |
Het |
Mpl |
T |
C |
4: 118,305,750 (GRCm39) |
D425G |
probably damaging |
Het |
Ms4a4c |
T |
C |
19: 11,398,676 (GRCm39) |
S165P |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,392,911 (GRCm39) |
S3217P |
probably benign |
Het |
Nfatc3 |
T |
A |
8: 106,810,502 (GRCm39) |
L426* |
probably null |
Het |
Or4f47 |
T |
C |
2: 111,972,509 (GRCm39) |
V73A |
probably benign |
Het |
Or5ak24 |
T |
C |
2: 85,261,068 (GRCm39) |
Y35C |
probably damaging |
Het |
Or7a42 |
T |
A |
10: 78,791,818 (GRCm39) |
Y260N |
probably damaging |
Het |
Phf1 |
G |
T |
17: 27,155,586 (GRCm39) |
V384L |
probably benign |
Het |
Rangap1 |
T |
C |
15: 81,596,336 (GRCm39) |
T259A |
probably benign |
Het |
Rec8 |
A |
G |
14: 55,856,076 (GRCm39) |
N6S |
possibly damaging |
Het |
Rmdn2 |
G |
A |
17: 79,934,971 (GRCm39) |
|
probably benign |
Het |
Scin |
T |
C |
12: 40,118,945 (GRCm39) |
Y617C |
probably damaging |
Het |
Ttc13 |
T |
C |
8: 125,400,221 (GRCm39) |
S744G |
probably benign |
Het |
Ttc14 |
T |
C |
3: 33,862,968 (GRCm39) |
|
probably benign |
Het |
Uggt1 |
T |
C |
1: 36,214,032 (GRCm39) |
E219G |
possibly damaging |
Het |
Vmn1r183 |
A |
G |
7: 23,754,704 (GRCm39) |
D169G |
possibly damaging |
Het |
Vmn1r72 |
A |
T |
7: 11,413,064 (GRCm39) |
|
probably null |
Het |
Zfp326 |
T |
G |
5: 106,036,584 (GRCm39) |
M76R |
probably null |
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 |
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'- ACAAGGACGTGAGATGTGTC -3'
(R):5'- GGTTAAGTATTGGCCTTTACCAC -3'
Sequencing Primer
(F):5'- GATGTGTCCATCCCCTGAGC -3'
(R):5'- TCGCTCAGTCAAATCTGGAG -3'
|
Posted On |
2018-05-24 |