Incidental Mutation 'IGL03180:Grip2'
ID |
412212 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Grip2
|
Ensembl Gene |
ENSMUSG00000030098 |
Gene Name |
glutamate receptor interacting protein 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03180
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
91738490-91804231 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 91762742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159684]
[ENSMUST00000161566]
[ENSMUST00000162293]
[ENSMUST00000162300]
|
AlphaFold |
G3XA20 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000159684
|
SMART Domains |
Protein: ENSMUSP00000125047 Gene: ENSMUSG00000030098
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
PDZ
|
62 |
136 |
1.12e-12 |
SMART |
PDZ
|
161 |
239 |
3.8e-15 |
SMART |
PDZ
|
262 |
337 |
7.9e-13 |
SMART |
low complexity region
|
385 |
390 |
N/A |
INTRINSIC |
PDZ
|
426 |
506 |
2.18e-15 |
SMART |
PDZ
|
527 |
602 |
3.86e-16 |
SMART |
PDZ
|
625 |
699 |
1.38e-17 |
SMART |
low complexity region
|
778 |
793 |
N/A |
INTRINSIC |
low complexity region
|
867 |
878 |
N/A |
INTRINSIC |
PDZ
|
910 |
982 |
2.95e-12 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161545
|
SMART Domains |
Protein: ENSMUSP00000125538 Gene: ENSMUSG00000030098
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
PDB:2QT5|B
|
42 |
89 |
3e-9 |
PDB |
SCOP:d1lcya1
|
47 |
89 |
2e-7 |
SMART |
low complexity region
|
103 |
119 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161566
|
SMART Domains |
Protein: ENSMUSP00000123941 Gene: ENSMUSG00000030098
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
PDZ
|
62 |
136 |
9.96e-10 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162293
|
SMART Domains |
Protein: ENSMUSP00000124717 Gene: ENSMUSG00000030098
Domain | Start | End | E-Value | Type |
PDZ
|
10 |
84 |
1.12e-12 |
SMART |
PDZ
|
109 |
187 |
3.8e-15 |
SMART |
PDZ
|
210 |
285 |
7.9e-13 |
SMART |
low complexity region
|
336 |
348 |
N/A |
INTRINSIC |
low complexity region
|
374 |
379 |
N/A |
INTRINSIC |
PDZ
|
415 |
495 |
2.18e-15 |
SMART |
PDZ
|
516 |
591 |
3.86e-16 |
SMART |
PDZ
|
614 |
688 |
1.38e-17 |
SMART |
low complexity region
|
767 |
782 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162300
|
SMART Domains |
Protein: ENSMUSP00000124709 Gene: ENSMUSG00000030098
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
36 |
N/A |
INTRINSIC |
PDZ
|
62 |
136 |
1.12e-12 |
SMART |
PDZ
|
161 |
239 |
3.8e-15 |
SMART |
PDZ
|
262 |
337 |
7.9e-13 |
SMART |
low complexity region
|
388 |
400 |
N/A |
INTRINSIC |
low complexity region
|
426 |
431 |
N/A |
INTRINSIC |
PDZ
|
467 |
547 |
2.18e-15 |
SMART |
PDZ
|
568 |
643 |
3.86e-16 |
SMART |
PDZ
|
666 |
740 |
1.38e-17 |
SMART |
low complexity region
|
819 |
834 |
N/A |
INTRINSIC |
low complexity region
|
908 |
919 |
N/A |
INTRINSIC |
PDZ
|
951 |
1023 |
2.95e-12 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice are born in numbers expected by the Mendelian ratio and show no overt phenotype. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp6 |
T |
C |
3: 97,082,951 (GRCm39) |
Y321H |
probably benign |
Het |
Adam28 |
T |
A |
14: 68,874,883 (GRCm39) |
I265L |
probably damaging |
Het |
Adcy8 |
T |
C |
15: 64,655,799 (GRCm39) |
D560G |
possibly damaging |
Het |
Aff3 |
A |
G |
1: 38,574,743 (GRCm39) |
M79T |
probably damaging |
Het |
Ahctf1 |
A |
G |
1: 179,602,895 (GRCm39) |
|
probably null |
Het |
Aspn |
C |
T |
13: 49,716,991 (GRCm39) |
R256W |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,966,226 (GRCm39) |
V4051A |
probably benign |
Het |
Cfap46 |
G |
A |
7: 139,183,168 (GRCm39) |
L2584F |
unknown |
Het |
Chdh |
T |
A |
14: 29,756,559 (GRCm39) |
|
probably null |
Het |
Clasp1 |
A |
G |
1: 118,433,255 (GRCm39) |
T245A |
probably benign |
Het |
Clec4a1 |
G |
A |
6: 122,901,777 (GRCm39) |
V70I |
probably benign |
Het |
Cpt2 |
A |
T |
4: 107,764,157 (GRCm39) |
S536T |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 65,777,465 (GRCm39) |
H3694Q |
probably damaging |
Het |
Dntt |
T |
A |
19: 41,017,990 (GRCm39) |
F38Y |
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,182,485 (GRCm39) |
S706G |
probably benign |
Het |
Eif4ebp2 |
T |
C |
10: 61,269,589 (GRCm39) |
E117G |
probably damaging |
Het |
Eif5b |
T |
C |
1: 38,075,350 (GRCm39) |
I609T |
probably damaging |
Het |
Esam |
G |
A |
9: 37,445,866 (GRCm39) |
G135S |
probably damaging |
Het |
Fut7 |
C |
A |
2: 25,315,465 (GRCm39) |
A241D |
possibly damaging |
Het |
Grin2d |
T |
A |
7: 45,502,753 (GRCm39) |
K706M |
probably damaging |
Het |
Gtf2ird2 |
A |
G |
5: 134,220,087 (GRCm39) |
T22A |
probably damaging |
Het |
Hadh |
T |
C |
3: 131,065,533 (GRCm39) |
I42V |
probably benign |
Het |
Iqsec3 |
T |
A |
6: 121,390,467 (GRCm39) |
|
probably benign |
Het |
Izumo3 |
G |
A |
4: 92,034,524 (GRCm39) |
|
probably benign |
Het |
Ldlrad1 |
G |
T |
4: 107,075,032 (GRCm39) |
C193F |
probably damaging |
Het |
Lgals4 |
G |
A |
7: 28,537,053 (GRCm39) |
G118R |
probably damaging |
Het |
Map4k1 |
A |
C |
7: 28,687,510 (GRCm39) |
E136A |
probably damaging |
Het |
Mapk8ip1 |
G |
T |
2: 92,217,257 (GRCm39) |
P346Q |
possibly damaging |
Het |
Mrtfb |
A |
G |
16: 13,216,196 (GRCm39) |
K303E |
probably damaging |
Het |
Nlrp14 |
T |
A |
7: 106,781,833 (GRCm39) |
H343Q |
probably benign |
Het |
Ogg1 |
T |
G |
6: 113,310,455 (GRCm39) |
|
probably null |
Het |
Or12k8 |
C |
T |
2: 36,975,722 (GRCm39) |
V13M |
possibly damaging |
Het |
Or5m10 |
A |
T |
2: 85,717,740 (GRCm39) |
M199L |
probably benign |
Het |
Pacc1 |
G |
T |
1: 191,071,089 (GRCm39) |
V82F |
probably damaging |
Het |
Pafah1b1 |
A |
T |
11: 74,574,344 (GRCm39) |
C281S |
possibly damaging |
Het |
Papss1 |
C |
T |
3: 131,313,143 (GRCm39) |
R386W |
probably damaging |
Het |
Pex5 |
A |
G |
6: 124,390,522 (GRCm39) |
|
probably benign |
Het |
Pibf1 |
C |
A |
14: 99,370,780 (GRCm39) |
Q261K |
probably benign |
Het |
Plcb3 |
T |
C |
19: 6,933,521 (GRCm39) |
S935G |
probably benign |
Het |
Polg |
A |
G |
7: 79,101,601 (GRCm39) |
|
probably benign |
Het |
Ptpdc1 |
G |
A |
13: 48,739,553 (GRCm39) |
T626I |
probably damaging |
Het |
Rab34 |
A |
T |
11: 78,081,144 (GRCm39) |
Y87F |
probably damaging |
Het |
Rsrc1 |
T |
G |
3: 66,989,876 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
T |
C |
13: 11,583,449 (GRCm39) |
N4735S |
possibly damaging |
Het |
Scn7a |
T |
C |
2: 66,506,578 (GRCm39) |
D1437G |
possibly damaging |
Het |
Sdk1 |
A |
G |
5: 142,071,497 (GRCm39) |
E1229G |
probably damaging |
Het |
Sez6l |
A |
T |
5: 112,584,151 (GRCm39) |
V806D |
probably damaging |
Het |
Sgsm2 |
A |
C |
11: 74,759,401 (GRCm39) |
|
probably null |
Het |
Sla |
A |
G |
15: 66,661,569 (GRCm39) |
I121T |
probably benign |
Het |
Son |
T |
C |
16: 91,453,896 (GRCm39) |
L881S |
probably damaging |
Het |
Srms |
A |
G |
2: 180,854,573 (GRCm39) |
|
probably benign |
Het |
Stoml1 |
T |
C |
9: 58,168,200 (GRCm39) |
S304P |
probably damaging |
Het |
Stt3a |
T |
C |
9: 36,670,552 (GRCm39) |
D73G |
probably damaging |
Het |
Tpp1 |
T |
C |
7: 105,395,856 (GRCm39) |
T558A |
probably benign |
Het |
Trp53i13 |
T |
C |
11: 77,403,528 (GRCm39) |
|
probably benign |
Het |
Vmn2r77 |
A |
G |
7: 86,450,843 (GRCm39) |
Y243C |
possibly damaging |
Het |
Vwde |
T |
C |
6: 13,205,764 (GRCm39) |
D261G |
probably damaging |
Het |
Zfpm2 |
A |
G |
15: 40,964,790 (GRCm39) |
K293R |
probably damaging |
Het |
|
Other mutations in Grip2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01141:Grip2
|
APN |
6 |
91,759,878 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01748:Grip2
|
APN |
6 |
91,741,724 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01838:Grip2
|
APN |
6 |
91,741,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02392:Grip2
|
APN |
6 |
91,764,276 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02620:Grip2
|
APN |
6 |
91,755,587 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02862:Grip2
|
APN |
6 |
91,765,085 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03027:Grip2
|
APN |
6 |
91,755,852 (GRCm39) |
missense |
probably benign |
0.02 |
R0265:Grip2
|
UTSW |
6 |
91,750,773 (GRCm39) |
critical splice donor site |
probably null |
|
R0448:Grip2
|
UTSW |
6 |
91,756,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R0597:Grip2
|
UTSW |
6 |
91,773,178 (GRCm39) |
intron |
probably benign |
|
R1405:Grip2
|
UTSW |
6 |
91,765,133 (GRCm39) |
splice site |
probably null |
|
R1405:Grip2
|
UTSW |
6 |
91,765,133 (GRCm39) |
splice site |
probably null |
|
R1466:Grip2
|
UTSW |
6 |
91,765,424 (GRCm39) |
missense |
probably damaging |
0.98 |
R1466:Grip2
|
UTSW |
6 |
91,765,424 (GRCm39) |
missense |
probably damaging |
0.98 |
R1664:Grip2
|
UTSW |
6 |
91,742,233 (GRCm39) |
missense |
probably damaging |
1.00 |
R1703:Grip2
|
UTSW |
6 |
91,754,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R1793:Grip2
|
UTSW |
6 |
91,760,623 (GRCm39) |
missense |
probably benign |
0.03 |
R1951:Grip2
|
UTSW |
6 |
91,760,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R2001:Grip2
|
UTSW |
6 |
91,756,831 (GRCm39) |
missense |
probably benign |
0.00 |
R4730:Grip2
|
UTSW |
6 |
91,762,693 (GRCm39) |
makesense |
probably null |
|
R4754:Grip2
|
UTSW |
6 |
91,756,173 (GRCm39) |
missense |
probably damaging |
0.97 |
R4754:Grip2
|
UTSW |
6 |
91,756,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R4773:Grip2
|
UTSW |
6 |
91,759,413 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5135:Grip2
|
UTSW |
6 |
91,750,897 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5213:Grip2
|
UTSW |
6 |
91,756,812 (GRCm39) |
missense |
probably benign |
0.04 |
R5972:Grip2
|
UTSW |
6 |
91,784,262 (GRCm39) |
missense |
probably benign |
0.01 |
R6176:Grip2
|
UTSW |
6 |
91,756,832 (GRCm39) |
missense |
probably benign |
0.00 |
R6188:Grip2
|
UTSW |
6 |
91,740,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R6289:Grip2
|
UTSW |
6 |
91,755,852 (GRCm39) |
missense |
probably benign |
0.02 |
R6345:Grip2
|
UTSW |
6 |
91,742,369 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6348:Grip2
|
UTSW |
6 |
91,757,419 (GRCm39) |
missense |
probably damaging |
0.99 |
R6394:Grip2
|
UTSW |
6 |
91,764,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R6658:Grip2
|
UTSW |
6 |
91,763,472 (GRCm39) |
missense |
probably damaging |
1.00 |
R7065:Grip2
|
UTSW |
6 |
91,760,550 (GRCm39) |
critical splice donor site |
probably null |
|
R7074:Grip2
|
UTSW |
6 |
91,761,689 (GRCm39) |
missense |
probably benign |
0.24 |
R7308:Grip2
|
UTSW |
6 |
91,755,669 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7607:Grip2
|
UTSW |
6 |
91,765,393 (GRCm39) |
missense |
probably benign |
|
R7617:Grip2
|
UTSW |
6 |
91,742,031 (GRCm39) |
splice site |
probably null |
|
R7970:Grip2
|
UTSW |
6 |
91,763,513 (GRCm39) |
missense |
probably benign |
0.07 |
R8221:Grip2
|
UTSW |
6 |
91,762,665 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8549:Grip2
|
UTSW |
6 |
91,750,769 (GRCm39) |
splice site |
probably null |
|
R8838:Grip2
|
UTSW |
6 |
91,762,721 (GRCm39) |
utr 3 prime |
probably benign |
|
R8962:Grip2
|
UTSW |
6 |
91,754,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R9430:Grip2
|
UTSW |
6 |
91,784,265 (GRCm39) |
missense |
probably benign |
0.05 |
R9699:Grip2
|
UTSW |
6 |
91,742,318 (GRCm39) |
missense |
probably benign |
|
R9732:Grip2
|
UTSW |
6 |
91,761,686 (GRCm39) |
missense |
probably damaging |
0.99 |
RF003:Grip2
|
UTSW |
6 |
91,760,574 (GRCm39) |
missense |
probably benign |
0.02 |
Z1176:Grip2
|
UTSW |
6 |
91,740,491 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
Posted On |
2016-08-02 |