Incidental Mutation 'R1109:Gps2'
| ID |
98672 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gps2
|
| Ensembl Gene |
ENSMUSG00000023170 |
| Gene Name |
G protein pathway suppressor 2 |
| Synonyms |
|
| MMRRC Submission |
039182-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.891)
|
| Stock # |
R1109 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69804714-69807417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 69806507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 177
(H177Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043419]
[ENSMUST00000057884]
[ENSMUST00000061837]
[ENSMUST00000070996]
[ENSMUST00000071026]
[ENSMUST00000072581]
[ENSMUST00000108607]
[ENSMUST00000116358]
[ENSMUST00000152589]
[ENSMUST00000108617]
[ENSMUST00000108609]
[ENSMUST00000108610]
[ENSMUST00000134581]
[ENSMUST00000108612]
[ENSMUST00000153652]
[ENSMUST00000108608]
[ENSMUST00000108611]
[ENSMUST00000133203]
[ENSMUST00000108613]
[ENSMUST00000177476]
[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 |
possibly damaging
Transcript: ENSMUST00000057884
AA Change: H177Q
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000054072
Gene: ENSMUSG00000023170
AA Change: H177Q
| 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 |
possibly damaging
Transcript: ENSMUST00000072581
AA Change: H177Q
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072389
Gene: ENSMUSG00000023170
AA Change: H177Q
| 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 |
possibly damaging
Transcript: ENSMUST00000116358
AA Change: H177Q
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000112062
Gene: ENSMUSG00000023170
AA Change: H177Q
| 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: 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: ENSMUST00000134581
|
| 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 |
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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000175761
|
| 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: 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 |
0.0615 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 88.9%
|
| Validation Efficiency |
100% (80/80) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
T |
G |
3: 121,573,245 (GRCm39) |
E262D |
probably damaging |
Het |
| Abcg1 |
G |
A |
17: 31,330,210 (GRCm39) |
A504T |
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,606,545 (GRCm39) |
T515A |
probably benign |
Het |
| Alg8 |
A |
T |
7: 97,032,891 (GRCm39) |
|
probably null |
Het |
| Arhgap44 |
T |
A |
11: 64,917,642 (GRCm39) |
H375L |
probably benign |
Het |
| Aspm |
A |
T |
1: 139,384,496 (GRCm39) |
I98F |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,305,719 (GRCm39) |
|
probably benign |
Het |
| Coa3 |
T |
C |
11: 101,169,611 (GRCm39) |
K48R |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,607,005 (GRCm39) |
S473P |
probably damaging |
Het |
| Dnmt1 |
A |
T |
9: 20,833,684 (GRCm39) |
Y451N |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,043,927 (GRCm39) |
Y819H |
possibly damaging |
Het |
| Dtx1 |
G |
A |
5: 120,848,484 (GRCm39) |
|
probably benign |
Het |
| Dus2 |
T |
A |
8: 106,780,114 (GRCm39) |
F479I |
probably benign |
Het |
| Elp1 |
T |
C |
4: 56,786,723 (GRCm39) |
T407A |
probably benign |
Het |
| Esrp1 |
T |
C |
4: 11,365,205 (GRCm39) |
E262G |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,418,951 (GRCm39) |
Y466C |
probably damaging |
Het |
| Fasn |
A |
G |
11: 120,703,150 (GRCm39) |
F1625S |
possibly damaging |
Het |
| Fbxw25 |
A |
T |
9: 109,479,128 (GRCm39) |
H374Q |
probably benign |
Het |
| Focad |
T |
C |
4: 88,114,984 (GRCm39) |
|
probably benign |
Het |
| Gad2 |
G |
T |
2: 22,571,406 (GRCm39) |
R448L |
probably damaging |
Het |
| Gad2 |
G |
A |
2: 22,580,171 (GRCm39) |
|
probably benign |
Het |
| Galnt16 |
G |
T |
12: 80,637,405 (GRCm39) |
E377D |
probably benign |
Het |
| Gcc1 |
A |
C |
6: 28,419,166 (GRCm39) |
L389R |
probably damaging |
Het |
| Ggct |
A |
T |
6: 54,966,554 (GRCm39) |
|
probably benign |
Het |
| Gm7052 |
G |
A |
17: 22,259,133 (GRCm39) |
|
probably benign |
Het |
| Heg1 |
T |
A |
16: 33,583,961 (GRCm39) |
L1256Q |
probably damaging |
Het |
| Il36a |
G |
A |
2: 24,106,602 (GRCm39) |
G62E |
probably damaging |
Het |
| Il3ra |
C |
T |
14: 14,349,317 (GRCm38) |
R138W |
probably damaging |
Het |
| Itprid1 |
G |
T |
6: 55,945,245 (GRCm39) |
K655N |
probably damaging |
Het |
| Kdm4b |
T |
A |
17: 56,706,430 (GRCm39) |
I848N |
probably damaging |
Het |
| L3hypdh |
A |
G |
12: 72,120,770 (GRCm39) |
V327A |
possibly damaging |
Het |
| Lepr |
G |
T |
4: 101,628,552 (GRCm39) |
L552F |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,740,941 (GRCm39) |
I449T |
probably damaging |
Het |
| Lrrn1 |
A |
G |
6: 107,544,225 (GRCm39) |
K8E |
probably benign |
Het |
| Mex3a |
G |
T |
3: 88,443,967 (GRCm39) |
D348Y |
possibly damaging |
Het |
| Mindy2 |
G |
A |
9: 70,538,361 (GRCm39) |
R325* |
probably null |
Het |
| Mkrn1 |
A |
T |
6: 39,376,268 (GRCm39) |
M382K |
probably damaging |
Het |
| Mroh1 |
G |
T |
15: 76,330,709 (GRCm39) |
|
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,383,892 (GRCm39) |
D1646E |
probably damaging |
Het |
| Neu2 |
A |
G |
1: 87,524,450 (GRCm39) |
D145G |
probably damaging |
Het |
| Obi1 |
A |
T |
14: 104,717,200 (GRCm39) |
L391* |
probably null |
Het |
| Or10ah1-ps1 |
A |
T |
5: 143,123,374 (GRCm39) |
N216K |
probably benign |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or2w3b |
T |
C |
11: 58,623,742 (GRCm39) |
Y83C |
probably benign |
Het |
| Plekhm2 |
T |
A |
4: 141,355,295 (GRCm39) |
I938F |
probably benign |
Het |
| Pnma8a |
A |
T |
7: 16,695,392 (GRCm39) |
K416* |
probably null |
Het |
| Ppid |
T |
C |
3: 79,506,168 (GRCm39) |
S198P |
probably benign |
Het |
| Rabl6 |
G |
T |
2: 25,477,538 (GRCm39) |
P304Q |
probably damaging |
Het |
| Rasal2 |
A |
T |
1: 157,005,208 (GRCm39) |
|
probably benign |
Het |
| Ripor1 |
G |
T |
8: 106,345,560 (GRCm39) |
|
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,054,124 (GRCm39) |
L658Q |
probably damaging |
Het |
| Safb |
T |
A |
17: 56,908,228 (GRCm39) |
|
probably benign |
Het |
| Sf3b5 |
T |
C |
10: 12,884,497 (GRCm39) |
M44T |
probably benign |
Het |
| Slc26a9 |
A |
T |
1: 131,686,536 (GRCm39) |
M419L |
probably benign |
Het |
| Slc38a8 |
T |
C |
8: 120,209,394 (GRCm39) |
D393G |
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,705,199 (GRCm39) |
D230G |
probably benign |
Het |
| Smc1b |
T |
C |
15: 84,997,016 (GRCm39) |
T535A |
probably damaging |
Het |
| Smg7 |
G |
C |
1: 152,721,334 (GRCm39) |
P626R |
probably damaging |
Het |
| Smu1 |
C |
T |
4: 40,755,722 (GRCm39) |
V48M |
probably benign |
Het |
| Spag17 |
T |
C |
3: 99,934,667 (GRCm39) |
Y650H |
possibly damaging |
Het |
| Spata1 |
C |
T |
3: 146,181,053 (GRCm39) |
V302I |
possibly damaging |
Het |
| Sptb |
G |
A |
12: 76,650,377 (GRCm39) |
A1780V |
probably damaging |
Het |
| Srrm2 |
G |
A |
17: 24,038,591 (GRCm39) |
|
probably benign |
Het |
| Sspo |
A |
C |
6: 48,474,377 (GRCm39) |
N4933H |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,468,798 (GRCm39) |
I88T |
probably benign |
Het |
| Tgfa |
G |
T |
6: 86,247,072 (GRCm39) |
|
probably benign |
Het |
| Thsd1 |
T |
A |
8: 22,733,708 (GRCm39) |
C252S |
possibly damaging |
Het |
| Tmem102 |
T |
A |
11: 69,695,630 (GRCm39) |
H114L |
probably damaging |
Het |
| Tnni3k |
T |
A |
3: 154,498,414 (GRCm39) |
K808N |
possibly damaging |
Het |
| Trpm7 |
G |
T |
2: 126,639,713 (GRCm39) |
L1628M |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,561,081 (GRCm39) |
Y29107H |
probably damaging |
Het |
| Upb1 |
T |
C |
10: 75,273,999 (GRCm39) |
L342P |
probably damaging |
Het |
| Vmn2r120 |
T |
C |
17: 57,832,829 (GRCm39) |
T117A |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,487,652 (GRCm39) |
D175G |
probably damaging |
Het |
| Vps35l |
A |
T |
7: 118,374,552 (GRCm39) |
I351F |
probably damaging |
Het |
| Zfhx4 |
T |
G |
3: 5,464,930 (GRCm39) |
M1696R |
possibly damaging |
Het |
| Zfp746 |
A |
G |
6: 48,041,856 (GRCm39) |
V289A |
possibly damaging |
Het |
| Zfyve26 |
A |
C |
12: 79,318,901 (GRCm39) |
F1146V |
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 |
|
|
R1086:Gps2
|
UTSW |
11 |
69,806,050 (GRCm39) |
unclassified |
probably benign |
|
|
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'- CACAATCGCCCAGGTACTCTGATG -3'
(R):5'- TGGCTGAGATAGGTACTGCACTGC -3'
Sequencing Primer
(F):5'- GATGTTTGGACCACAAGTGC -3'
(R):5'- AATGCTGATGGGGCTGAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation