Incidental Mutation 'R1405:Grip2'
ID |
160519 |
Institutional Source |
Beutler Lab
|
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 # |
R1405 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
91738490-91804231 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 91765133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124709
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159684]
[ENSMUST00000159684]
[ENSMUST00000159684]
[ENSMUST00000159684]
[ENSMUST00000161566]
[ENSMUST00000161566]
[ENSMUST00000162293]
[ENSMUST00000162293]
[ENSMUST00000162300]
[ENSMUST00000162300]
[ENSMUST00000162300]
[ENSMUST00000162300]
|
AlphaFold |
G3XA20 |
Predicted Effect |
probably null
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 null
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 null
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 null
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: 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: 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: 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 null
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 |
|
Predicted Effect |
probably null
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 |
|
Predicted Effect |
probably null
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 |
|
Predicted Effect |
probably null
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205964
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 96.7%
- 10x: 83.5%
- 20x: 53.1%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arap1 |
G |
A |
7: 101,047,643 (GRCm39) |
|
probably null |
Het |
Asb8 |
G |
A |
15: 98,039,248 (GRCm39) |
H51Y |
possibly damaging |
Het |
Capn10 |
T |
G |
1: 92,872,744 (GRCm39) |
V490G |
probably benign |
Het |
Ccdc146 |
G |
A |
5: 21,604,730 (GRCm39) |
S36L |
probably benign |
Het |
Celsr1 |
C |
T |
15: 85,789,635 (GRCm39) |
|
probably null |
Het |
Clvs2 |
C |
A |
10: 33,389,256 (GRCm39) |
*328L |
probably null |
Het |
Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
Dstn |
A |
G |
2: 143,780,356 (GRCm39) |
K19E |
probably damaging |
Het |
Ehmt2 |
T |
A |
17: 35,125,553 (GRCm39) |
H134Q |
probably benign |
Het |
Faah |
G |
A |
4: 115,858,345 (GRCm39) |
P411S |
probably damaging |
Het |
Fn1 |
A |
G |
1: 71,681,237 (GRCm39) |
F364L |
probably damaging |
Het |
Gmnc |
A |
T |
16: 26,779,196 (GRCm39) |
N270K |
possibly damaging |
Het |
Hmg20a |
A |
T |
9: 56,384,587 (GRCm39) |
Q119L |
possibly damaging |
Het |
Ipo7 |
T |
C |
7: 109,629,048 (GRCm39) |
I106T |
probably benign |
Het |
Ipo7 |
C |
T |
7: 109,638,456 (GRCm39) |
P241L |
probably damaging |
Het |
Katnb1 |
T |
C |
8: 95,824,801 (GRCm39) |
Y574H |
probably damaging |
Het |
Larp6 |
A |
C |
9: 60,644,849 (GRCm39) |
M330L |
probably benign |
Het |
Lrrc8e |
T |
C |
8: 4,281,754 (GRCm39) |
Y30H |
probably damaging |
Het |
Nop56 |
T |
C |
2: 130,119,868 (GRCm39) |
V420A |
probably benign |
Het |
Nrg1 |
T |
C |
8: 32,407,855 (GRCm39) |
D126G |
probably benign |
Het |
Prdm1 |
T |
A |
10: 44,315,961 (GRCm39) |
N725I |
probably damaging |
Het |
Prl3a1 |
A |
G |
13: 27,459,051 (GRCm39) |
|
probably null |
Het |
Psmd2 |
T |
C |
16: 20,471,034 (GRCm39) |
L59P |
possibly damaging |
Het |
Ptgdr2 |
T |
C |
19: 10,918,395 (GRCm39) |
V304A |
probably benign |
Het |
Rasa3 |
A |
G |
8: 13,638,027 (GRCm39) |
V339A |
possibly damaging |
Het |
Sec24c |
G |
A |
14: 20,742,593 (GRCm39) |
|
probably null |
Het |
Serpinb9e |
A |
G |
13: 33,444,009 (GRCm39) |
D343G |
probably benign |
Het |
Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
Sfi1 |
CCTCTC |
CCTCTCTC |
11: 3,127,419 (GRCm39) |
|
probably benign |
Het |
Stab1 |
A |
C |
14: 30,870,958 (GRCm39) |
V1297G |
probably benign |
Het |
Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
Tmprss2 |
G |
A |
16: 97,398,005 (GRCm39) |
T57I |
probably benign |
Het |
Tnrc6a |
A |
G |
7: 122,770,301 (GRCm39) |
D697G |
probably damaging |
Het |
Vwa5b2 |
T |
A |
16: 20,423,066 (GRCm39) |
D1021E |
probably benign |
Het |
Wdr46 |
C |
A |
17: 34,168,057 (GRCm39) |
P543Q |
probably damaging |
Het |
Zfp1005 |
T |
A |
2: 150,109,620 (GRCm39) |
Y103* |
probably null |
Het |
Zfp287 |
T |
A |
11: 62,619,137 (GRCm39) |
D119V |
probably damaging |
Het |
Zxdc |
A |
G |
6: 90,361,225 (GRCm39) |
S737G |
possibly 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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACATGGAAGGGTACATGGCCTTG -3'
(R):5'- GTTCTAGTGACTCGTGACGTAGCG -3'
Sequencing Primer
(F):5'- TGTGGCAGACATCAAGCTC -3'
(R):5'- GTGACGTAGCGGCACTG -3'
|
Posted On |
2014-03-14 |