Incidental Mutation 'R7172:Gps2'
| ID |
558364 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gps2
|
| Ensembl Gene |
ENSMUSG00000023170 |
| Gene Name |
G protein pathway suppressor 2 |
| Synonyms |
|
| MMRRC Submission |
045264-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.891)
|
| Stock # |
R7172 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
69804714-69807417 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 69807262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 306
(T306I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043419]
[ENSMUST00000057884]
[ENSMUST00000061837]
[ENSMUST00000070996]
[ENSMUST00000071026]
[ENSMUST00000072581]
[ENSMUST00000108607]
[ENSMUST00000108608]
[ENSMUST00000108609]
[ENSMUST00000108610]
[ENSMUST00000108611]
[ENSMUST00000108612]
[ENSMUST00000108613]
[ENSMUST00000108617]
[ENSMUST00000116358]
[ENSMUST00000133203]
[ENSMUST00000134581]
[ENSMUST00000152589]
[ENSMUST00000153652]
[ENSMUST00000164359]
[ENSMUST00000177138]
[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 benign
Transcript: ENSMUST00000057884
AA Change: T306I
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000054072
Gene: ENSMUSG00000023170
AA Change: T306I
| 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
AA Change: T306I
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000072389
Gene: ENSMUSG00000023170
AA Change: T306I
| 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 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: 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: 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: 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: 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: ENSMUST00000116358
AA Change: T306I
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000112062
Gene: ENSMUSG00000023170
AA Change: T306I
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jjva_
|
22 |
83 |
9e-3 |
SMART |
|
| 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: 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: ENSMUST00000134581
|
| 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: 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: 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: 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (74/74) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA467197 |
A |
T |
2: 122,480,238 (GRCm39) |
Y33F |
probably damaging |
Het |
| Abca4 |
C |
T |
3: 121,897,189 (GRCm39) |
Q623* |
probably null |
Het |
| Abcb1a |
A |
T |
5: 8,752,399 (GRCm39) |
I457F |
probably benign |
Het |
| Abcb9 |
G |
A |
5: 124,200,869 (GRCm39) |
Q716* |
probably null |
Het |
| Abhd15 |
T |
C |
11: 77,406,122 (GRCm39) |
V33A |
probably benign |
Het |
| Abl2 |
A |
G |
1: 156,450,157 (GRCm39) |
D108G |
probably damaging |
Het |
| Adamts3 |
G |
A |
5: 90,030,860 (GRCm39) |
|
probably benign |
Het |
| Atmin |
G |
T |
8: 117,683,281 (GRCm39) |
V314L |
probably damaging |
Het |
| Axl |
G |
T |
7: 25,486,399 (GRCm39) |
Q102K |
probably benign |
Het |
| Cdhr5 |
A |
G |
7: 140,851,841 (GRCm39) |
S488P |
possibly damaging |
Het |
| Cnn1 |
C |
A |
9: 22,016,790 (GRCm39) |
A126D |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,363,981 (GRCm39) |
K537* |
probably null |
Het |
| Cxcl2 |
A |
G |
5: 91,051,879 (GRCm39) |
T26A |
probably benign |
Het |
| Dcc |
T |
C |
18: 71,511,755 (GRCm39) |
T887A |
probably benign |
Het |
| Dhx36 |
T |
C |
3: 62,408,436 (GRCm39) |
D134G |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,931,957 (GRCm39) |
K3672* |
probably null |
Het |
| Fadd |
G |
T |
7: 144,135,908 (GRCm39) |
H73Q |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,152,828 (GRCm39) |
N1095D |
possibly damaging |
Het |
| Fhod3 |
T |
C |
18: 25,218,603 (GRCm39) |
S789P |
probably damaging |
Het |
| Glis2 |
G |
A |
16: 4,431,339 (GRCm39) |
V289I |
probably benign |
Het |
| Gm17728 |
A |
C |
17: 9,641,220 (GRCm39) |
D110A |
probably damaging |
Het |
| Gm9602 |
T |
A |
14: 15,933,429 (GRCm39) |
S45T |
possibly damaging |
Het |
| Gpr137 |
A |
G |
19: 6,917,049 (GRCm39) |
S161P |
possibly damaging |
Het |
| Gpr89 |
C |
T |
3: 96,787,385 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
G |
1: 150,629,450 (GRCm39) |
Y936H |
possibly damaging |
Het |
| Hoxa5 |
A |
G |
6: 52,181,276 (GRCm39) |
Y19H |
probably damaging |
Het |
| Ifit2 |
G |
T |
19: 34,550,894 (GRCm39) |
A145S |
probably benign |
Het |
| Impdh2 |
G |
T |
9: 108,437,809 (GRCm39) |
C26F |
probably benign |
Het |
| Kcnh6 |
T |
C |
11: 105,911,100 (GRCm39) |
Y552H |
possibly damaging |
Het |
| Kcnma1 |
A |
T |
14: 23,576,691 (GRCm39) |
M254K |
probably damaging |
Het |
| Klhdc9 |
A |
T |
1: 171,188,228 (GRCm39) |
M1K |
probably null |
Het |
| Klk1b11 |
A |
T |
7: 43,648,671 (GRCm39) |
D194V |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,111,540 (GRCm39) |
I2264V |
|
Het |
| Lmntd2 |
A |
G |
7: 140,793,554 (GRCm39) |
S111P |
unknown |
Het |
| Megf8 |
T |
C |
7: 25,043,092 (GRCm39) |
L1338P |
probably damaging |
Het |
| Mipol1 |
G |
A |
12: 57,372,321 (GRCm39) |
E127K |
possibly damaging |
Het |
| Mmp25 |
A |
T |
17: 23,863,762 (GRCm39) |
C23S |
probably benign |
Het |
| Mup8 |
A |
T |
4: 60,222,425 (GRCm39) |
C15* |
probably null |
Het |
| Myh2 |
A |
T |
11: 67,079,527 (GRCm39) |
T995S |
probably benign |
Het |
| Myo1d |
C |
T |
11: 80,483,621 (GRCm39) |
V863I |
probably benign |
Het |
| N4bp1 |
A |
G |
8: 87,587,052 (GRCm39) |
|
probably null |
Het |
| Nat10 |
G |
T |
2: 103,563,314 (GRCm39) |
P562T |
probably damaging |
Het |
| Nedd9 |
C |
G |
13: 41,470,280 (GRCm39) |
R291P |
probably benign |
Het |
| Nlrc3 |
G |
T |
16: 3,781,617 (GRCm39) |
H613Q |
probably benign |
Het |
| Ntn1 |
A |
T |
11: 68,276,493 (GRCm39) |
C152S |
probably damaging |
Het |
| Or2av9 |
T |
A |
11: 58,380,571 (GRCm39) |
I337F |
unknown |
Het |
| Pam |
A |
T |
1: 97,762,203 (GRCm39) |
D793E |
probably benign |
Het |
| Patz1 |
T |
G |
11: 3,258,032 (GRCm39) |
V631G |
probably benign |
Het |
| Pcdh15 |
G |
A |
10: 74,338,597 (GRCm39) |
V1068M |
probably damaging |
Het |
| Pramel17 |
A |
G |
4: 101,694,193 (GRCm39) |
V230A |
probably benign |
Het |
| Prmt5 |
A |
G |
14: 54,752,343 (GRCm39) |
F151S |
possibly damaging |
Het |
| Pygo2 |
G |
A |
3: 89,339,943 (GRCm39) |
V114I |
probably benign |
Het |
| Rabgap1l |
A |
T |
1: 160,561,156 (GRCm39) |
S220R |
probably benign |
Het |
| Rdh7 |
T |
G |
10: 127,724,218 (GRCm39) |
S89R |
possibly damaging |
Het |
| Rgsl1 |
A |
C |
1: 153,701,966 (GRCm39) |
W163G |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,492,002 (GRCm39) |
N3783I |
probably damaging |
Het |
| Shld2 |
G |
A |
14: 33,959,525 (GRCm39) |
T819I |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,623,105 (GRCm39) |
L644P |
probably damaging |
Het |
| Steap2 |
A |
G |
5: 5,732,896 (GRCm39) |
S43P |
possibly damaging |
Het |
| Susd1 |
A |
T |
4: 59,315,420 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,981,390 (GRCm39) |
M686V |
probably damaging |
Het |
| Tdrp |
G |
A |
8: 14,024,579 (GRCm39) |
R22* |
probably null |
Het |
| Tmem245 |
A |
G |
4: 56,903,946 (GRCm39) |
V598A |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,914,994 (GRCm39) |
E1994G |
probably damaging |
Het |
| Trcg1 |
T |
A |
9: 57,155,618 (GRCm39) |
V757E |
probably benign |
Het |
| Trim10 |
A |
G |
17: 37,180,955 (GRCm39) |
E62G |
possibly damaging |
Het |
| Ushbp1 |
G |
T |
8: 71,841,410 (GRCm39) |
A473E |
possibly damaging |
Het |
| Vmn1r50 |
A |
C |
6: 90,084,386 (GRCm39) |
K44Q |
possibly damaging |
Het |
| Wdr75 |
A |
G |
1: 45,838,294 (GRCm39) |
N68D |
probably damaging |
Het |
| Wdr83 |
A |
G |
8: 85,806,453 (GRCm39) |
V115A |
probably damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,845,809 (GRCm39) |
L28P |
possibly damaging |
Het |
| Zfp738 |
C |
T |
13: 67,818,527 (GRCm39) |
C488Y |
probably damaging |
Het |
| Zfp987 |
T |
G |
4: 146,058,572 (GRCm39) |
L50W |
probably damaging |
Het |
| Zfyve28 |
G |
T |
5: 34,391,753 (GRCm39) |
R133S |
probably benign |
Het |
| Zscan20 |
G |
T |
4: 128,479,469 (GRCm39) |
C1007* |
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 |
|
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 |
|
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'- GCTTCCCGTACAGATACAAGC -3'
(R):5'- ATGCTGAGACTTCATAGTAGCC -3'
Sequencing Primer
(F):5'- TTCCCGTACAGATACAAGCAGCAG -3'
(R):5'- CTGAGACTTCATAGTAGCCTTTGTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation