Incidental Mutation 'R2355:Gps2'
ID |
246884 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gps2
|
Ensembl Gene |
ENSMUSG00000023170 |
Gene Name |
G protein pathway suppressor 2 |
Synonyms |
|
MMRRC Submission |
040337-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.891)
|
Stock # |
R2355 (G1)
|
Quality Score |
217 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
69804714-69807417 bp(+) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
AGTGCT to A
at 69806207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112062
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043419]
[ENSMUST00000057884]
[ENSMUST00000061837]
[ENSMUST00000070996]
[ENSMUST00000071026]
[ENSMUST00000072581]
[ENSMUST00000108607]
[ENSMUST00000116358]
[ENSMUST00000152589]
[ENSMUST00000134581]
[ENSMUST00000153652]
[ENSMUST00000108613]
[ENSMUST00000108608]
[ENSMUST00000108611]
[ENSMUST00000133203]
[ENSMUST00000108617]
[ENSMUST00000108609]
[ENSMUST00000108610]
[ENSMUST00000108612]
[ENSMUST00000177138]
[ENSMUST00000164359]
[ENSMUST00000177476]
|
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 null
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 null
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: 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 null
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: 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: ENSMUST00000134581
|
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: 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: 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: 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 |
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: 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000175761
|
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 |
|
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
Validation Efficiency |
|
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 |
Abcb9 |
CGG |
CG |
5: 124,215,368 (GRCm39) |
|
probably null |
Het |
Ahcyl1 |
A |
G |
3: 107,577,533 (GRCm39) |
S296P |
probably damaging |
Het |
Alas1 |
A |
G |
9: 106,113,673 (GRCm39) |
V524A |
probably damaging |
Het |
Amn |
C |
A |
12: 111,238,246 (GRCm39) |
D53E |
probably damaging |
Het |
Bbof1 |
A |
G |
12: 84,470,223 (GRCm39) |
E33G |
probably damaging |
Het |
Ccdc149 |
T |
C |
5: 52,578,114 (GRCm39) |
E106G |
probably damaging |
Het |
Ceacam5 |
T |
A |
7: 17,479,560 (GRCm39) |
S226T |
probably damaging |
Het |
Chd7 |
G |
T |
4: 8,801,350 (GRCm39) |
S698I |
possibly damaging |
Het |
Chst2 |
A |
G |
9: 95,288,148 (GRCm39) |
L66P |
probably damaging |
Het |
Cps1 |
C |
T |
1: 67,195,383 (GRCm39) |
P268L |
probably damaging |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Cyp3a59 |
A |
T |
5: 146,036,622 (GRCm39) |
M275L |
probably benign |
Het |
Ddx41 |
T |
G |
13: 55,682,113 (GRCm39) |
M232L |
probably benign |
Het |
Dnah6 |
C |
A |
6: 73,133,404 (GRCm39) |
A1068S |
possibly damaging |
Het |
Dnah7a |
T |
C |
1: 53,621,661 (GRCm39) |
I1155V |
probably benign |
Het |
Dop1b |
G |
A |
16: 93,567,565 (GRCm39) |
V611I |
probably damaging |
Het |
Epyc |
A |
G |
10: 97,512,875 (GRCm39) |
Y243C |
probably damaging |
Het |
Fam171a1 |
C |
T |
2: 3,226,570 (GRCm39) |
Q568* |
probably null |
Het |
Gm5930 |
A |
G |
14: 44,573,918 (GRCm39) |
S105P |
probably damaging |
Het |
Golga4 |
A |
G |
9: 118,389,810 (GRCm39) |
D2032G |
probably benign |
Het |
H2-DMb1 |
A |
G |
17: 34,376,289 (GRCm39) |
Y136C |
probably damaging |
Het |
Il12b |
A |
G |
11: 44,301,039 (GRCm39) |
E185G |
probably benign |
Het |
Kat7 |
A |
C |
11: 95,182,407 (GRCm39) |
I231R |
probably benign |
Het |
Kcmf1 |
A |
T |
6: 72,827,466 (GRCm39) |
I58N |
probably damaging |
Het |
Lmf2 |
A |
T |
15: 89,235,966 (GRCm39) |
V646E |
possibly damaging |
Het |
Lmo7 |
A |
G |
14: 102,126,121 (GRCm39) |
Q409R |
probably damaging |
Het |
Lmod1 |
T |
A |
1: 135,292,253 (GRCm39) |
H369Q |
probably benign |
Het |
M1ap |
G |
A |
6: 82,933,484 (GRCm39) |
A13T |
probably benign |
Het |
Mapk8ip2 |
G |
T |
15: 89,343,168 (GRCm39) |
V637L |
probably benign |
Het |
Mettl25 |
C |
A |
10: 105,599,316 (GRCm39) |
V570L |
probably benign |
Het |
Mfsd1 |
T |
A |
3: 67,508,668 (GRCm39) |
N449K |
probably damaging |
Het |
Or56a5 |
A |
T |
7: 104,793,020 (GRCm39) |
M166K |
probably benign |
Het |
Or5b24 |
T |
C |
19: 12,912,383 (GRCm39) |
S94P |
possibly damaging |
Het |
Or5d18 |
T |
A |
2: 87,865,379 (GRCm39) |
I35F |
probably damaging |
Het |
Or6c209 |
G |
A |
10: 129,483,711 (GRCm39) |
C238Y |
probably benign |
Het |
Pcdhb5 |
T |
A |
18: 37,455,169 (GRCm39) |
S516R |
probably benign |
Het |
Plppr3 |
C |
T |
10: 79,701,194 (GRCm39) |
M549I |
possibly damaging |
Het |
Ppl |
A |
G |
16: 4,912,361 (GRCm39) |
V740A |
probably benign |
Het |
Rabgef1 |
C |
T |
5: 130,240,928 (GRCm39) |
T349M |
probably benign |
Het |
Rad51ap2 |
T |
C |
12: 11,507,109 (GRCm39) |
C344R |
probably benign |
Het |
Shank2 |
A |
G |
7: 143,611,455 (GRCm39) |
Q172R |
possibly damaging |
Het |
Smg9 |
G |
A |
7: 24,119,546 (GRCm39) |
|
probably null |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Trim42 |
A |
T |
9: 97,241,293 (GRCm39) |
N646K |
probably damaging |
Het |
Usp32 |
T |
C |
11: 84,896,735 (GRCm39) |
I1181V |
probably benign |
Het |
Vwa5b1 |
C |
A |
4: 138,319,221 (GRCm39) |
|
probably null |
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 |
|
R1086:Gps2
|
UTSW |
11 |
69,806,050 (GRCm39) |
unclassified |
probably benign |
|
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 |
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'- CTGACATCAGCTGCATACCAG -3'
(R):5'- GCTCCTACATACACATGCTTGG -3'
Sequencing Primer
(F):5'- CAGAGCCTGACGGTTCATACAG -3'
(R):5'- ACACATGCTTGGTATATTTGTTCTTG -3'
|
Posted On |
2014-10-30 |