Incidental Mutation 'R6289:Grip2'
| ID |
508298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Grip2
|
| Ensembl Gene |
ENSMUSG00000030098 |
| Gene Name |
glutamate receptor interacting protein 2 |
| Synonyms |
|
| MMRRC Submission |
044459-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6289 (G1)
|
| Quality Score |
224.009 |
|
Status
|
Validated
|
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam21 |
A |
G |
12: 81,607,480 (GRCm39) |
V94A |
probably damaging |
Het |
| Ankrd36 |
T |
C |
11: 5,578,837 (GRCm39) |
S34P |
probably damaging |
Het |
| Arid3c |
G |
A |
4: 41,724,285 (GRCm39) |
|
probably benign |
Het |
| Atg16l1 |
C |
T |
1: 87,683,937 (GRCm39) |
R6C |
probably damaging |
Het |
| Bex6 |
A |
G |
16: 32,005,530 (GRCm39) |
I113V |
probably benign |
Het |
| Blk |
T |
C |
14: 63,613,341 (GRCm39) |
|
probably null |
Het |
| C1s1 |
A |
G |
6: 124,508,135 (GRCm39) |
F618S |
probably damaging |
Het |
| Casp8ap2 |
C |
T |
4: 32,639,590 (GRCm39) |
H215Y |
probably damaging |
Het |
| Casp9 |
T |
A |
4: 141,534,496 (GRCm39) |
V302E |
probably damaging |
Het |
| Ccl2 |
A |
C |
11: 81,927,795 (GRCm39) |
K80Q |
probably benign |
Het |
| Cit |
T |
G |
5: 116,144,385 (GRCm39) |
*2014E |
probably null |
Het |
| Dclk2 |
A |
T |
3: 86,739,124 (GRCm39) |
S292T |
probably benign |
Het |
| Ddx23 |
T |
C |
15: 98,547,765 (GRCm39) |
E463G |
probably benign |
Het |
| Dennd1b |
T |
C |
1: 139,096,683 (GRCm39) |
|
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fgf10 |
C |
A |
13: 118,852,028 (GRCm39) |
Q37K |
probably benign |
Het |
| Fgf22 |
A |
G |
10: 79,591,041 (GRCm39) |
D24G |
probably damaging |
Het |
| Gabra1 |
A |
G |
11: 42,045,846 (GRCm39) |
I88T |
probably damaging |
Het |
| H1f5 |
G |
T |
13: 21,964,609 (GRCm39) |
P39Q |
probably damaging |
Het |
| Hpse2 |
T |
A |
19: 42,777,418 (GRCm39) |
N583Y |
probably null |
Het |
| Katnal2 |
A |
G |
18: 77,105,151 (GRCm39) |
|
probably null |
Het |
| Keg1 |
T |
G |
19: 12,691,937 (GRCm39) |
C85G |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,106,615 (GRCm39) |
L1356H |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,196,391 (GRCm39) |
K192E |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,750,485 (GRCm39) |
|
probably null |
Het |
| Or5b110-ps1 |
T |
C |
19: 13,260,158 (GRCm39) |
K88R |
possibly damaging |
Het |
| Rars1 |
C |
T |
11: 35,716,894 (GRCm39) |
M207I |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,655,147 (GRCm39) |
Y896C |
probably damaging |
Het |
| Scarf1 |
T |
A |
11: 75,416,242 (GRCm39) |
W472R |
possibly damaging |
Het |
| Septin8 |
A |
G |
11: 53,425,305 (GRCm39) |
N66S |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,669,424 (GRCm39) |
F191L |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,935,411 (GRCm39) |
M1879T |
probably benign |
Het |
| Tlr3 |
C |
T |
8: 45,849,966 (GRCm39) |
R901Q |
probably benign |
Het |
| Trpc4ap |
T |
C |
2: 155,505,627 (GRCm39) |
T203A |
possibly damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,445,671 (GRCm39) |
S58G |
probably benign |
Het |
| Ubtd2 |
A |
G |
11: 32,466,177 (GRCm39) |
E132G |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,279,014 (GRCm39) |
E831V |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,201,325 (GRCm39) |
N418S |
probably benign |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Wdhd1 |
A |
C |
14: 47,495,953 (GRCm39) |
I637S |
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 |
|
|
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 |
|
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'- ATATTGTCAATGGCCAGCAGC -3'
(R):5'- CCATTAGCTGTAAGTCCCCTTG -3'
Sequencing Primer
(F):5'- TCAATGGCCAGCAGCTTGTC -3'
(R):5'- TCTCCACAATGGGATGCAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation