Incidental Mutation 'IGL03027:Grip2'
ID |
408210 |
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 # |
IGL03027
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
91738490-91804231 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 91755852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 586
(I586T)
|
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
AA Change: I545T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000125047 Gene: ENSMUSG00000030098 AA Change: I545T
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: 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
AA Change: I534T
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000124717 Gene: ENSMUSG00000030098 AA Change: I534T
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
AA Change: I586T
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000124709 Gene: ENSMUSG00000030098 AA Change: I586T
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 |
|
Meta Mutation Damage Score |
0.0624 |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf1 |
A |
T |
17: 43,607,605 (GRCm39) |
Y108F |
probably damaging |
Het |
Afap1 |
T |
C |
5: 36,119,094 (GRCm39) |
I243T |
probably benign |
Het |
Ano5 |
A |
G |
7: 51,216,025 (GRCm39) |
D320G |
probably damaging |
Het |
Arhgef1 |
T |
A |
7: 24,623,157 (GRCm39) |
I423K |
probably damaging |
Het |
Casp9 |
A |
G |
4: 141,539,584 (GRCm39) |
E410G |
probably benign |
Het |
Ccdc39 |
A |
C |
3: 33,884,267 (GRCm39) |
H358Q |
probably benign |
Het |
Ces5a |
A |
T |
8: 94,249,742 (GRCm39) |
|
probably null |
Het |
Clip1 |
A |
T |
5: 123,759,919 (GRCm39) |
M935K |
probably benign |
Het |
Col12a1 |
A |
G |
9: 79,548,833 (GRCm39) |
Y2171H |
probably benign |
Het |
Cyp2f2 |
A |
T |
7: 26,831,996 (GRCm39) |
N417I |
possibly damaging |
Het |
Dock3 |
G |
A |
9: 106,870,677 (GRCm39) |
P579L |
probably damaging |
Het |
Dock7 |
T |
C |
4: 98,866,164 (GRCm39) |
M1209V |
probably benign |
Het |
Dock7 |
T |
C |
4: 98,958,450 (GRCm39) |
T334A |
possibly damaging |
Het |
Dst |
A |
T |
1: 34,225,106 (GRCm39) |
I1171F |
possibly damaging |
Het |
Eya1 |
G |
T |
1: 14,241,190 (GRCm39) |
H576N |
probably damaging |
Het |
Fam117a |
A |
G |
11: 95,268,399 (GRCm39) |
T267A |
probably benign |
Het |
Fam43a |
C |
T |
16: 30,419,922 (GRCm39) |
R169C |
probably damaging |
Het |
Gabra6 |
T |
C |
11: 42,205,980 (GRCm39) |
H291R |
probably damaging |
Het |
Gm7145 |
T |
C |
1: 117,895,417 (GRCm39) |
S27P |
probably benign |
Het |
Gpt |
C |
T |
15: 76,582,289 (GRCm39) |
|
probably benign |
Het |
Hif1a |
C |
T |
12: 73,987,251 (GRCm39) |
P448L |
probably benign |
Het |
Hmcn1 |
C |
T |
1: 150,684,290 (GRCm39) |
V427I |
probably benign |
Het |
Ipo8 |
C |
A |
6: 148,678,737 (GRCm39) |
V954L |
probably benign |
Het |
Kdm5a |
G |
T |
6: 120,351,951 (GRCm39) |
|
probably null |
Het |
Klhl36 |
T |
A |
8: 120,603,229 (GRCm39) |
S495T |
probably benign |
Het |
Lpar5 |
T |
A |
6: 125,059,203 (GRCm39) |
L308Q |
probably damaging |
Het |
Lrp2 |
T |
G |
2: 69,367,897 (GRCm39) |
D205A |
probably benign |
Het |
Lrriq1 |
A |
G |
10: 103,063,057 (GRCm39) |
I83T |
probably benign |
Het |
Mapk8ip2 |
A |
T |
15: 89,342,310 (GRCm39) |
D507V |
probably damaging |
Het |
Mical1 |
T |
C |
10: 41,355,501 (GRCm39) |
|
probably benign |
Het |
Myef2 |
T |
A |
2: 124,930,954 (GRCm39) |
H539L |
possibly damaging |
Het |
Myh7 |
T |
C |
14: 55,221,007 (GRCm39) |
E972G |
probably damaging |
Het |
Naip5 |
A |
G |
13: 100,359,524 (GRCm39) |
Y571H |
probably benign |
Het |
Nfasc |
T |
A |
1: 132,538,207 (GRCm39) |
N478I |
probably damaging |
Het |
Or6c1b |
A |
G |
10: 129,272,780 (GRCm39) |
Y33C |
probably damaging |
Het |
Pde2a |
A |
T |
7: 101,130,627 (GRCm39) |
Q89L |
probably benign |
Het |
Ppard |
C |
A |
17: 28,518,765 (GRCm39) |
T422K |
possibly damaging |
Het |
Ppp1r13b |
G |
T |
12: 111,796,830 (GRCm39) |
Y904* |
probably null |
Het |
Ptx4 |
T |
A |
17: 25,344,022 (GRCm39) |
I424K |
possibly damaging |
Het |
Rab19 |
A |
G |
6: 39,360,927 (GRCm39) |
D25G |
probably damaging |
Het |
Rbl2 |
T |
A |
8: 91,805,534 (GRCm39) |
I197N |
possibly damaging |
Het |
Rttn |
A |
G |
18: 88,997,814 (GRCm39) |
D273G |
probably damaging |
Het |
Sec16a |
G |
A |
2: 26,313,601 (GRCm39) |
R1920C |
probably benign |
Het |
Sec23b |
A |
T |
2: 144,429,465 (GRCm39) |
N731I |
possibly damaging |
Het |
Serpinb9d |
G |
A |
13: 33,386,698 (GRCm39) |
W255* |
probably null |
Het |
Sim2 |
G |
A |
16: 93,910,351 (GRCm39) |
|
probably benign |
Het |
Tbl3 |
T |
C |
17: 24,920,167 (GRCm39) |
|
probably null |
Het |
Tmem176b |
C |
T |
6: 48,812,573 (GRCm39) |
A131T |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,348,494 (GRCm39) |
V332D |
probably damaging |
Het |
Trgc1 |
G |
T |
13: 19,398,563 (GRCm39) |
G97* |
probably null |
Het |
Tuba3b |
T |
A |
6: 145,565,117 (GRCm39) |
L195Q |
probably damaging |
Het |
Ubc |
A |
T |
5: 125,464,565 (GRCm39) |
V254D |
probably damaging |
Het |
Ube4b |
G |
T |
4: 149,465,734 (GRCm39) |
P239T |
probably damaging |
Het |
Vars1 |
G |
T |
17: 35,232,663 (GRCm39) |
M862I |
probably damaging |
Het |
Vmn2r66 |
T |
C |
7: 84,644,777 (GRCm39) |
|
probably benign |
Het |
Wdr59 |
G |
A |
8: 112,188,824 (GRCm39) |
A720V |
probably damaging |
Het |
Zfhx3 |
G |
A |
8: 109,519,820 (GRCm39) |
R314Q |
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 |
IGL03180:Grip2
|
APN |
6 |
91,762,742 (GRCm39) |
splice site |
probably benign |
|
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 |