Incidental Mutation 'R7074:Grip2'
| ID |
549098 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grip2
|
| Ensembl Gene |
ENSMUSG00000030098 |
| Gene Name |
glutamate receptor interacting protein 2 |
| Synonyms |
|
| MMRRC Submission |
045242-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7074 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
91738490-91804231 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 91761689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 235
(V235E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124709
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159684]
[ENSMUST00000161566]
[ENSMUST00000162293]
[ENSMUST00000162300]
|
| AlphaFold |
G3XA20 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159684
AA Change: V235E
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125047
Gene: ENSMUSG00000030098
AA Change: V235E
| 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 damaging
Transcript: ENSMUST00000162293
AA Change: V183E
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124717
Gene: ENSMUSG00000030098
AA Change: V183E
| 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: V235E
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124709
Gene: ENSMUSG00000030098
AA Change: V235E
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
T |
4: 144,340,433 (GRCm39) |
I53L |
probably benign |
Het |
| Acss2 |
T |
C |
2: 155,363,961 (GRCm39) |
L80P |
possibly damaging |
Het |
| Adam3 |
A |
T |
8: 25,184,363 (GRCm39) |
F546I |
probably benign |
Het |
| Adtrp |
A |
T |
13: 41,981,617 (GRCm39) |
|
probably null |
Het |
| Anapc1 |
G |
T |
2: 128,520,194 (GRCm39) |
P208T |
probably damaging |
Het |
| Ankrd33 |
A |
G |
15: 101,017,430 (GRCm39) |
K281R |
probably benign |
Het |
| Bcl11b |
A |
G |
12: 107,955,766 (GRCm39) |
S128P |
probably benign |
Het |
| Ccdc57 |
T |
C |
11: 120,794,200 (GRCm39) |
K265E |
possibly damaging |
Het |
| Cep72 |
A |
G |
13: 74,199,699 (GRCm39) |
C244R |
probably benign |
Het |
| Cope |
A |
G |
8: 70,765,537 (GRCm39) |
Q303R |
probably benign |
Het |
| Cpd |
T |
A |
11: 76,704,420 (GRCm39) |
N398I |
probably damaging |
Het |
| Cplx1 |
C |
T |
5: 108,696,393 (GRCm39) |
|
probably null |
Het |
| Dixdc1 |
T |
A |
9: 50,601,214 (GRCm39) |
E344D |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,833,445 (GRCm39) |
F1951I |
unknown |
Het |
| Ell2 |
C |
A |
13: 75,910,006 (GRCm39) |
L119M |
probably damaging |
Het |
| Faap24 |
A |
T |
7: 35,094,527 (GRCm39) |
I91K |
possibly damaging |
Het |
| Fubp3 |
T |
C |
2: 31,485,306 (GRCm39) |
S107P |
probably damaging |
Het |
| Gas2l2 |
T |
A |
11: 83,313,893 (GRCm39) |
Q473L |
probably benign |
Het |
| Ghr |
A |
T |
15: 3,362,873 (GRCm39) |
Y200N |
probably damaging |
Het |
| Gm4950 |
G |
A |
18: 51,998,521 (GRCm39) |
Q145* |
probably null |
Het |
| Gm826 |
C |
T |
2: 160,153,810 (GRCm39) |
V78I |
unknown |
Het |
| Gnas |
G |
A |
2: 174,126,842 (GRCm39) |
E126K |
probably damaging |
Het |
| Hmgcl |
A |
G |
4: 135,681,178 (GRCm39) |
H88R |
probably benign |
Het |
| Htr7 |
A |
G |
19: 36,034,283 (GRCm39) |
V124A |
probably damaging |
Het |
| Igf2r |
T |
A |
17: 12,933,003 (GRCm39) |
I840F |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,204,574 (GRCm39) |
I961V |
possibly damaging |
Het |
| Jmy |
A |
T |
13: 93,590,439 (GRCm39) |
S555T |
probably benign |
Het |
| Klk1b27 |
G |
A |
7: 43,705,977 (GRCm39) |
G227S |
probably damaging |
Het |
| Lao1 |
A |
C |
4: 118,825,382 (GRCm39) |
T401P |
probably damaging |
Het |
| Lrwd1 |
C |
T |
5: 136,152,511 (GRCm39) |
V547I |
probably benign |
Het |
| Mttp |
C |
A |
3: 137,813,034 (GRCm39) |
R532L |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,566,946 (GRCm39) |
T1858A |
unknown |
Het |
| Myo18a |
T |
A |
11: 77,733,387 (GRCm39) |
D1409E |
probably benign |
Het |
| Ncor2 |
T |
A |
5: 125,126,430 (GRCm39) |
R554* |
probably null |
Het |
| Or14j6 |
T |
A |
17: 38,214,718 (GRCm39) |
Y94N |
possibly damaging |
Het |
| Or1e1b-ps1 |
A |
T |
11: 73,845,975 (GRCm39) |
H153L |
probably benign |
Het |
| Or2b11 |
T |
C |
11: 59,461,835 (GRCm39) |
T244A |
probably damaging |
Het |
| Or2l13b |
T |
A |
16: 19,348,855 (GRCm39) |
I272F |
possibly damaging |
Het |
| Or52b1 |
A |
G |
7: 104,978,475 (GRCm39) |
M308T |
probably benign |
Het |
| Prkar2b |
A |
G |
12: 32,022,147 (GRCm39) |
Y213H |
probably damaging |
Het |
| Prkd3 |
T |
A |
17: 79,282,236 (GRCm39) |
K306* |
probably null |
Het |
| Psd2 |
A |
G |
18: 36,143,737 (GRCm39) |
E681G |
probably benign |
Het |
| Sel1l2 |
T |
A |
2: 140,105,362 (GRCm39) |
N276I |
probably damaging |
Het |
| Smox |
C |
T |
2: 131,364,031 (GRCm39) |
A45V |
possibly damaging |
Het |
| Smyd1 |
A |
G |
6: 71,214,359 (GRCm39) |
V214A |
probably damaging |
Het |
| Spag5 |
T |
C |
11: 78,195,868 (GRCm39) |
|
probably null |
Het |
| Trem3 |
C |
T |
17: 48,556,909 (GRCm39) |
R127W |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,748,425 (GRCm39) |
T4208I |
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 89,004,839 (GRCm39) |
F260S |
probably damaging |
Het |
| Vmn1r51 |
A |
T |
6: 90,106,654 (GRCm39) |
D190V |
probably benign |
Het |
| Zc3h14 |
A |
G |
12: 98,724,859 (GRCm39) |
I174V |
possibly damaging |
Het |
| Zfp423 |
G |
A |
8: 88,509,060 (GRCm39) |
T428I |
probably benign |
Het |
| Zfp608 |
T |
A |
18: 55,030,454 (GRCm39) |
N1162I |
possibly damaging |
Het |
| Zmym5 |
T |
C |
14: 57,042,255 (GRCm39) |
M8V |
probably benign |
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 |
|
|
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 |
|
|
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'- GCCTGACCCCTAGTGATATCAG -3'
(R):5'- AGCTCAGATATGCTGTGGGTAG -3'
Sequencing Primer
(F):5'- CCTGACCCCTAGTGATATCAGGAGAG -3'
(R):5'- GCATCAGAGTTGGCCTTTTAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation