Incidental Mutation 'R1086:Gps2'
ID |
85035 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gps2
|
Ensembl Gene |
ENSMUSG00000023170 |
Gene Name |
G protein pathway suppressor 2 |
Synonyms |
|
MMRRC Submission |
039172-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.891)
|
Stock # |
R1086 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
69804714-69807417 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 69806050 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135185
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043419]
[ENSMUST00000057884]
[ENSMUST00000061837]
[ENSMUST00000070996]
[ENSMUST00000071026]
[ENSMUST00000072581]
[ENSMUST00000116358]
[ENSMUST00000108612]
[ENSMUST00000108608]
[ENSMUST00000108611]
[ENSMUST00000108613]
[ENSMUST00000108617]
[ENSMUST00000108607]
[ENSMUST00000108609]
[ENSMUST00000108610]
[ENSMUST00000133203]
[ENSMUST00000177476]
[ENSMUST00000152589]
[ENSMUST00000153652]
[ENSMUST00000134581]
[ENSMUST00000177138]
[ENSMUST00000164359]
|
AlphaFold |
Q921N8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043419
|
SMART Domains |
Protein: ENSMUSP00000047008 Gene: ENSMUSG00000078812
Domain | Start | End | E-Value | Type |
SCOP:d1bkb_1
|
16 |
82 |
4e-39 |
SMART |
eIF-5a
|
83 |
150 |
2.43e-29 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000057884
|
SMART Domains |
Protein: ENSMUSP00000054072 Gene: ENSMUSG00000023170
Domain | Start | End | E-Value | Type |
Pfam:G_path_suppress
|
5 |
294 |
6.1e-93 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000061837
|
SMART Domains |
Protein: ENSMUSP00000053235 Gene: ENSMUSG00000047284
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
44 |
N/A |
INTRINSIC |
NEUZ
|
47 |
165 |
1.02e-28 |
SMART |
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
NEUZ
|
317 |
442 |
7.22e-52 |
SMART |
low complexity region
|
492 |
503 |
N/A |
INTRINSIC |
NEUZ
|
520 |
644 |
6.15e-46 |
SMART |
low complexity region
|
686 |
700 |
N/A |
INTRINSIC |
NEUZ
|
716 |
840 |
7.81e-39 |
SMART |
NEUZ
|
913 |
1043 |
2.27e-17 |
SMART |
low complexity region
|
1108 |
1117 |
N/A |
INTRINSIC |
NEUZ
|
1130 |
1250 |
4.93e-6 |
SMART |
low complexity region
|
1453 |
1464 |
N/A |
INTRINSIC |
low complexity region
|
1474 |
1483 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000070996
|
SMART Domains |
Protein: ENSMUSP00000067077 Gene: ENSMUSG00000078812
Domain | Start | End | E-Value | Type |
SCOP:d1bkb_1
|
16 |
82 |
4e-39 |
SMART |
Pfam:eIF-5a
|
83 |
150 |
4.8e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000071026
|
SMART Domains |
Protein: ENSMUSP00000068651 Gene: ENSMUSG00000078812
Domain | Start | End | E-Value | Type |
SCOP:d1bkb_1
|
16 |
82 |
4e-39 |
SMART |
Pfam:eIF-5a
|
83 |
150 |
4.8e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000072581
|
SMART Domains |
Protein: ENSMUSP00000072389 Gene: ENSMUSG00000023170
Domain | Start | End | E-Value | Type |
SCOP:d1jjva_
|
22 |
83 |
9e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000116358
|
SMART Domains |
Protein: ENSMUSP00000112062 Gene: ENSMUSG00000023170
Domain | Start | End | E-Value | Type |
SCOP:d1jjva_
|
22 |
83 |
9e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124596
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132183
|
SMART Domains |
Protein: ENSMUSP00000118868 Gene: ENSMUSG00000047284
Domain | Start | End | E-Value | Type |
low complexity region
|
161 |
172 |
N/A |
INTRINSIC |
low complexity region
|
182 |
191 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108612
|
SMART Domains |
Protein: ENSMUSP00000104252 Gene: ENSMUSG00000078812
Domain | Start | End | E-Value | Type |
SCOP:d1bkb_1
|
16 |
82 |
4e-39 |
SMART |
Pfam:eIF-5a
|
83 |
150 |
4.8e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108608
|
SMART Domains |
Protein: ENSMUSP00000104248 Gene: ENSMUSG00000078812
Domain | Start | End | E-Value | Type |
SCOP:d1bkb_1
|
16 |
82 |
4e-39 |
SMART |
Pfam:eIF-5a
|
83 |
150 |
4.8e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108611
|
SMART Domains |
Protein: ENSMUSP00000104251 Gene: ENSMUSG00000078812
Domain | Start | End | E-Value | Type |
SCOP:d1bkb_1
|
16 |
82 |
4e-39 |
SMART |
Pfam:eIF-5a
|
83 |
150 |
4.8e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108613
|
SMART Domains |
Protein: ENSMUSP00000104253 Gene: ENSMUSG00000078812
Domain | Start | End | E-Value | Type |
SCOP:d1bkb_1
|
16 |
82 |
4e-39 |
SMART |
Pfam:eIF-5a
|
83 |
150 |
4.8e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108617
|
SMART Domains |
Protein: ENSMUSP00000104257 Gene: ENSMUSG00000047284
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
44 |
N/A |
INTRINSIC |
NEUZ
|
47 |
165 |
3.5e-31 |
SMART |
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
NEUZ
|
295 |
420 |
2.5e-54 |
SMART |
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
NEUZ
|
498 |
622 |
2e-48 |
SMART |
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
NEUZ
|
694 |
818 |
2.6e-41 |
SMART |
NEUZ
|
891 |
1021 |
7.6e-20 |
SMART |
low complexity region
|
1086 |
1095 |
N/A |
INTRINSIC |
NEUZ
|
1108 |
1228 |
1.7e-8 |
SMART |
low complexity region
|
1431 |
1442 |
N/A |
INTRINSIC |
low complexity region
|
1452 |
1461 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108607
|
SMART Domains |
Protein: ENSMUSP00000104247 Gene: ENSMUSG00000078812
Domain | Start | End | E-Value | Type |
SCOP:d1bkb_1
|
16 |
82 |
4e-39 |
SMART |
Pfam:eIF-5a
|
83 |
150 |
4.8e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108609
|
SMART Domains |
Protein: ENSMUSP00000104249 Gene: ENSMUSG00000078812
Domain | Start | End | E-Value | Type |
SCOP:d1bkb_1
|
16 |
82 |
4e-39 |
SMART |
Pfam:eIF-5a
|
83 |
150 |
4.8e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108610
|
SMART Domains |
Protein: ENSMUSP00000104250 Gene: ENSMUSG00000078812
Domain | Start | End | E-Value | Type |
SCOP:d1bkb_1
|
16 |
82 |
4e-39 |
SMART |
Pfam:eIF-5a
|
83 |
150 |
4.8e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133203
|
SMART Domains |
Protein: ENSMUSP00000117917 Gene: ENSMUSG00000047284
Domain | Start | End | E-Value | Type |
NEUZ
|
60 |
185 |
7.22e-52 |
SMART |
low complexity region
|
235 |
246 |
N/A |
INTRINSIC |
NEUZ
|
263 |
387 |
6.15e-46 |
SMART |
low complexity region
|
429 |
443 |
N/A |
INTRINSIC |
NEUZ
|
459 |
583 |
7.81e-39 |
SMART |
NEUZ
|
656 |
786 |
2.27e-17 |
SMART |
low complexity region
|
851 |
860 |
N/A |
INTRINSIC |
Pfam:Neuralized
|
875 |
942 |
6.5e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175761
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143861
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177476
|
SMART Domains |
Protein: ENSMUSP00000135185 Gene: ENSMUSG00000047284
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
44 |
N/A |
INTRINSIC |
NEUZ
|
47 |
165 |
1.02e-28 |
SMART |
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
NEUZ
|
317 |
442 |
7.22e-52 |
SMART |
low complexity region
|
492 |
503 |
N/A |
INTRINSIC |
NEUZ
|
520 |
644 |
6.15e-46 |
SMART |
low complexity region
|
686 |
700 |
N/A |
INTRINSIC |
NEUZ
|
716 |
840 |
7.81e-39 |
SMART |
NEUZ
|
911 |
1041 |
2.27e-17 |
SMART |
low complexity region
|
1106 |
1115 |
N/A |
INTRINSIC |
NEUZ
|
1128 |
1248 |
4.93e-6 |
SMART |
low complexity region
|
1451 |
1462 |
N/A |
INTRINSIC |
low complexity region
|
1472 |
1481 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152589
|
SMART Domains |
Protein: ENSMUSP00000123402 Gene: ENSMUSG00000078812
Domain | Start | End | E-Value | Type |
SCOP:d1bkb_1
|
16 |
82 |
2e-39 |
SMART |
Pfam:eIF-5a
|
83 |
149 |
6.9e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153652
|
SMART Domains |
Protein: ENSMUSP00000137459 Gene: ENSMUSG00000078812
Domain | Start | End | E-Value | Type |
Pfam:eIF-5a
|
5 |
72 |
1.7e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134581
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177138
|
SMART Domains |
Protein: ENSMUSP00000135277 Gene: ENSMUSG00000047284
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
44 |
N/A |
INTRINSIC |
NEUZ
|
47 |
165 |
1.02e-28 |
SMART |
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
NEUZ
|
295 |
420 |
7.22e-52 |
SMART |
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
NEUZ
|
498 |
622 |
6.15e-46 |
SMART |
low complexity region
|
664 |
678 |
N/A |
INTRINSIC |
NEUZ
|
694 |
818 |
7.81e-39 |
SMART |
NEUZ
|
889 |
1019 |
2.27e-17 |
SMART |
low complexity region
|
1084 |
1093 |
N/A |
INTRINSIC |
NEUZ
|
1106 |
1226 |
4.93e-6 |
SMART |
low complexity region
|
1429 |
1440 |
N/A |
INTRINSIC |
low complexity region
|
1450 |
1459 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164359
|
SMART Domains |
Protein: ENSMUSP00000132717 Gene: ENSMUSG00000078812
Domain | Start | End | E-Value | Type |
SCOP:d1bkb_1
|
16 |
82 |
4e-39 |
SMART |
Pfam:eIF-5a
|
83 |
150 |
4.8e-27 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.4%
|
Validation Efficiency |
100% (53/53) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in G protein-mitogen-activated protein kinase (MAPK) signaling cascades. When overexpressed in mammalian cells, this gene could potently suppress a RAS- and MAPK-mediated signal and interfere with JNK activity, suggesting that the function of this gene may be signal repression. The encoded protein is an integral subunit of the NCOR1-HDAC3 (nuclear receptor corepressor 1-histone deacetylase 3) complex, and it was shown that the complex inhibits JNK activation through this subunit and thus could potentially provide an alternative mechanism for hormone-mediated antagonism of AP1 (activator protein 1) function. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis. [provided by MGI curators]
|
Allele List at MGI |
All alleles(1) : Gene trapped(1)
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,334,220 (GRCm39) |
|
probably benign |
Het |
Agbl4 |
G |
C |
4: 110,335,791 (GRCm39) |
|
probably benign |
Het |
Ano6 |
T |
C |
15: 95,847,843 (GRCm39) |
|
probably null |
Het |
B3gnt8 |
C |
G |
7: 25,327,736 (GRCm39) |
N55K |
probably damaging |
Het |
Brox |
A |
G |
1: 183,064,052 (GRCm39) |
Y252H |
probably damaging |
Het |
Cfap100 |
T |
A |
6: 90,380,890 (GRCm39) |
K605* |
probably null |
Het |
Chd7 |
A |
G |
4: 8,866,458 (GRCm39) |
T877A |
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,559,151 (GRCm39) |
I2371F |
probably damaging |
Het |
Cwc22 |
T |
A |
2: 77,754,824 (GRCm39) |
|
probably benign |
Het |
Cyp2s1 |
A |
T |
7: 25,505,422 (GRCm39) |
D347E |
probably damaging |
Het |
Dab1 |
C |
A |
4: 104,185,769 (GRCm39) |
|
probably benign |
Het |
Dis3l2 |
G |
A |
1: 86,917,871 (GRCm39) |
D493N |
probably benign |
Het |
Got1l1 |
A |
G |
8: 27,688,007 (GRCm39) |
W341R |
probably damaging |
Het |
Haus1 |
A |
C |
18: 77,854,553 (GRCm39) |
|
probably benign |
Het |
Itgam |
T |
C |
7: 127,679,436 (GRCm39) |
S193P |
probably damaging |
Het |
Itpr2 |
C |
A |
6: 146,251,543 (GRCm39) |
A1034S |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,699,476 (GRCm39) |
R270G |
probably benign |
Het |
Ltbr |
G |
A |
6: 125,289,703 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,552,876 (GRCm39) |
|
probably benign |
Het |
Mug1 |
T |
A |
6: 121,862,813 (GRCm39) |
M1387K |
probably damaging |
Het |
Nwd2 |
C |
T |
5: 63,963,917 (GRCm39) |
S1167L |
probably damaging |
Het |
Or5h19 |
T |
A |
16: 58,856,626 (GRCm39) |
H158L |
probably damaging |
Het |
Pfkm |
T |
C |
15: 98,029,546 (GRCm39) |
V719A |
probably benign |
Het |
Ppfia3 |
C |
G |
7: 45,011,182 (GRCm39) |
G16A |
probably damaging |
Het |
Ppp2r3d |
G |
A |
9: 101,031,021 (GRCm39) |
T245I |
possibly damaging |
Het |
Ptprd |
T |
C |
4: 76,051,495 (GRCm39) |
T256A |
probably damaging |
Het |
Ptprg |
C |
T |
14: 11,952,706 (GRCm38) |
|
probably benign |
Het |
Rabgap1 |
T |
C |
2: 37,359,458 (GRCm39) |
V7A |
probably damaging |
Het |
Rnh1 |
T |
G |
7: 140,743,282 (GRCm39) |
Q231P |
probably benign |
Het |
Rwdd2b |
C |
T |
16: 87,233,446 (GRCm39) |
|
probably benign |
Het |
Saal1 |
T |
C |
7: 46,338,883 (GRCm39) |
|
probably benign |
Het |
Sap130 |
G |
A |
18: 31,783,673 (GRCm39) |
|
probably benign |
Het |
Serpina1d |
T |
G |
12: 103,730,046 (GRCm39) |
M379L |
probably benign |
Het |
Skor2 |
A |
C |
18: 76,946,994 (GRCm39) |
S239R |
unknown |
Het |
Slc16a13 |
A |
G |
11: 70,109,850 (GRCm39) |
L217P |
probably damaging |
Het |
Slc18b1 |
T |
C |
10: 23,679,693 (GRCm39) |
M74T |
probably benign |
Het |
Speer4e2 |
T |
C |
5: 15,028,804 (GRCm39) |
D29G |
probably benign |
Het |
Tacc2 |
A |
T |
7: 130,228,227 (GRCm39) |
E1637D |
possibly damaging |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tg |
A |
C |
15: 66,555,911 (GRCm39) |
I868L |
probably benign |
Het |
Ttll5 |
G |
A |
12: 85,937,853 (GRCm39) |
V395I |
possibly damaging |
Het |
Uba6 |
C |
A |
5: 86,275,578 (GRCm39) |
C739F |
probably benign |
Het |
Unc5d |
A |
C |
8: 29,365,658 (GRCm39) |
V109G |
possibly damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp462 |
G |
T |
4: 55,013,000 (GRCm39) |
K507N |
probably damaging |
Het |
|
Other mutations in Gps2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0067:Gps2
|
UTSW |
11 |
69,805,607 (GRCm39) |
nonsense |
probably null |
|
R0067:Gps2
|
UTSW |
11 |
69,805,607 (GRCm39) |
nonsense |
probably null |
|
R1109:Gps2
|
UTSW |
11 |
69,806,507 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1938:Gps2
|
UTSW |
11 |
69,806,195 (GRCm39) |
missense |
probably benign |
|
R1964:Gps2
|
UTSW |
11 |
69,807,246 (GRCm39) |
missense |
probably benign |
0.03 |
R2355:Gps2
|
UTSW |
11 |
69,806,207 (GRCm39) |
frame shift |
probably null |
|
R3773:Gps2
|
UTSW |
11 |
69,806,927 (GRCm39) |
missense |
probably damaging |
0.99 |
R4765:Gps2
|
UTSW |
11 |
69,807,187 (GRCm39) |
unclassified |
probably benign |
|
R4811:Gps2
|
UTSW |
11 |
69,806,754 (GRCm39) |
missense |
probably damaging |
0.99 |
R5119:Gps2
|
UTSW |
11 |
69,805,617 (GRCm39) |
missense |
probably benign |
0.00 |
R5183:Gps2
|
UTSW |
11 |
69,806,023 (GRCm39) |
missense |
probably benign |
0.00 |
R5218:Gps2
|
UTSW |
11 |
69,807,121 (GRCm39) |
critical splice donor site |
probably null |
|
R5965:Gps2
|
UTSW |
11 |
69,805,620 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7172:Gps2
|
UTSW |
11 |
69,807,262 (GRCm39) |
missense |
probably benign |
0.40 |
R7562:Gps2
|
UTSW |
11 |
69,807,308 (GRCm39) |
missense |
probably benign |
0.40 |
R7854:Gps2
|
UTSW |
11 |
69,806,030 (GRCm39) |
missense |
probably damaging |
1.00 |
R8524:Gps2
|
UTSW |
11 |
69,805,832 (GRCm39) |
missense |
probably damaging |
0.99 |
R8713:Gps2
|
UTSW |
11 |
69,806,180 (GRCm39) |
missense |
probably benign |
0.01 |
Z1186:Gps2
|
UTSW |
11 |
69,807,130 (GRCm39) |
missense |
probably benign |
0.26 |
Z1187:Gps2
|
UTSW |
11 |
69,807,130 (GRCm39) |
missense |
probably benign |
0.26 |
Z1188:Gps2
|
UTSW |
11 |
69,807,130 (GRCm39) |
missense |
probably benign |
0.26 |
Z1189:Gps2
|
UTSW |
11 |
69,807,130 (GRCm39) |
missense |
probably benign |
0.26 |
Z1190:Gps2
|
UTSW |
11 |
69,807,130 (GRCm39) |
missense |
probably benign |
0.26 |
Z1191:Gps2
|
UTSW |
11 |
69,807,130 (GRCm39) |
missense |
probably benign |
0.26 |
Z1192:Gps2
|
UTSW |
11 |
69,807,130 (GRCm39) |
missense |
probably benign |
0.26 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGCTCTACAGGAGGAGAAGCAC -3'
(R):5'- TGGTCCAAACATCTGCTTGGCTC -3'
Sequencing Primer
(F):5'- AGAAGCACCAGCTTTTCTTGC -3'
(R):5'- TGCTTGGCTCTGTCAGC -3'
|
Posted On |
2013-11-18 |