Incidental Mutation 'R8277:Pask'
ID |
638004 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pask
|
Ensembl Gene |
ENSMUSG00000026274 |
Gene Name |
PAS domain containing serine/threonine kinase |
Synonyms |
Paskin |
MMRRC Submission |
067700-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R8277 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
93237159-93271244 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 93253085 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027493]
|
AlphaFold |
Q8CEE6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027493
|
SMART Domains |
Protein: ENSMUSP00000027493 Gene: ENSMUSG00000026274
Domain | Start | End | E-Value | Type |
PAS
|
119 |
186 |
3.87e-8 |
SMART |
PAS
|
333 |
400 |
3.08e-2 |
SMART |
low complexity region
|
907 |
918 |
N/A |
INTRINSIC |
low complexity region
|
1043 |
1054 |
N/A |
INTRINSIC |
S_TKc
|
1059 |
1311 |
8.16e-79 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (43/43) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011] PHENOTYPE: Homozygous null mice display resistance to diet-induced obesity, impaired glucose stimulated insulin secretion, abnormal energy balance, and abnormalities in hypoxia induced changes in ventialtion. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
C |
A |
19: 57,204,351 (GRCm39) |
L13F |
probably benign |
Het |
Apoe |
C |
T |
7: 19,432,303 (GRCm39) |
|
probably benign |
Het |
Arap2 |
A |
G |
5: 62,771,335 (GRCm39) |
|
probably null |
Het |
Aspm |
T |
C |
1: 139,382,748 (GRCm39) |
S27P |
probably damaging |
Het |
Atcay |
C |
A |
10: 81,050,646 (GRCm39) |
D90Y |
probably damaging |
Het |
Cd46 |
A |
T |
1: 194,747,030 (GRCm39) |
D327E |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,029,347 (GRCm39) |
W1001R |
probably damaging |
Het |
Chrm2 |
G |
A |
6: 36,500,211 (GRCm39) |
V23M |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,516,410 (GRCm39) |
G175R |
probably null |
Het |
Ddx52 |
T |
C |
11: 83,845,940 (GRCm39) |
S422P |
probably damaging |
Het |
Dync2i2 |
A |
G |
2: 29,923,886 (GRCm39) |
V213A |
probably benign |
Het |
Entr1 |
G |
A |
2: 26,274,778 (GRCm39) |
A373V |
probably damaging |
Het |
Gucy2d |
T |
A |
7: 98,092,682 (GRCm39) |
W20R |
probably benign |
Het |
Hao2 |
A |
G |
3: 98,787,700 (GRCm39) |
I243T |
probably damaging |
Het |
Hmcn2 |
A |
C |
2: 31,259,189 (GRCm39) |
T1010P |
probably benign |
Het |
Iqcf1 |
T |
C |
9: 106,379,077 (GRCm39) |
S29P |
probably benign |
Het |
Kat2b |
T |
A |
17: 53,948,281 (GRCm39) |
D350E |
probably benign |
Het |
Lingo4 |
A |
G |
3: 94,309,931 (GRCm39) |
S290G |
possibly damaging |
Het |
Mmrn1 |
A |
G |
6: 60,954,220 (GRCm39) |
T834A |
probably benign |
Het |
Mro |
A |
T |
18: 73,997,132 (GRCm39) |
|
probably benign |
Het |
Mrps26 |
T |
A |
2: 130,406,347 (GRCm39) |
L160Q |
probably damaging |
Het |
Myh8 |
T |
C |
11: 67,183,735 (GRCm39) |
I788T |
probably benign |
Het |
Nab2 |
G |
A |
10: 127,501,168 (GRCm39) |
|
probably benign |
Het |
Nr2c2ap |
C |
T |
8: 70,585,131 (GRCm39) |
Q67* |
probably null |
Het |
Or1p1b |
C |
T |
11: 74,130,842 (GRCm39) |
L151F |
probably benign |
Het |
Pcnx2 |
A |
T |
8: 126,592,755 (GRCm39) |
S736R |
probably damaging |
Het |
Per2 |
G |
T |
1: 91,348,274 (GRCm39) |
D1109E |
probably benign |
Het |
Plxna1 |
G |
A |
6: 89,334,162 (GRCm39) |
H156Y |
probably damaging |
Het |
Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
Rbpms2 |
T |
A |
9: 65,556,695 (GRCm39) |
F45Y |
probably damaging |
Het |
Rmdn3 |
T |
C |
2: 118,976,905 (GRCm39) |
D276G |
probably damaging |
Het |
Septin2 |
T |
A |
1: 93,427,030 (GRCm39) |
I171K |
probably benign |
Het |
Serpinb3a |
C |
A |
1: 106,973,970 (GRCm39) |
G314C |
probably damaging |
Het |
Slc35f3 |
T |
A |
8: 127,115,925 (GRCm39) |
V284D |
possibly damaging |
Het |
Snapc4 |
A |
G |
2: 26,255,722 (GRCm39) |
V934A |
probably benign |
Het |
Tctn1 |
A |
G |
5: 122,402,431 (GRCm39) |
M1T |
probably null |
Het |
Tgoln1 |
G |
A |
6: 72,593,838 (GRCm39) |
|
probably benign |
Het |
Unc5c |
G |
A |
3: 141,474,373 (GRCm39) |
|
probably null |
Het |
Vmn2r11 |
A |
T |
5: 109,202,833 (GRCm39) |
F81L |
probably benign |
Het |
Vmn2r15 |
A |
T |
5: 109,440,970 (GRCm39) |
V296E |
probably benign |
Het |
Vmn2r15 |
C |
T |
5: 109,441,310 (GRCm39) |
D183N |
probably damaging |
Het |
Zfp763 |
T |
C |
17: 33,252,294 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Pask |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01366:Pask
|
APN |
1 |
93,238,574 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01620:Pask
|
APN |
1 |
93,237,844 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01959:Pask
|
APN |
1 |
93,262,329 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02170:Pask
|
APN |
1 |
93,238,606 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02499:Pask
|
APN |
1 |
93,248,817 (GRCm39) |
nonsense |
probably null |
|
IGL02670:Pask
|
APN |
1 |
93,238,540 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03066:Pask
|
APN |
1 |
93,258,588 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03210:Pask
|
APN |
1 |
93,247,714 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0472:Pask
|
UTSW |
1 |
93,248,639 (GRCm39) |
missense |
probably benign |
0.00 |
R0524:Pask
|
UTSW |
1 |
93,238,556 (GRCm39) |
missense |
probably damaging |
1.00 |
R0854:Pask
|
UTSW |
1 |
93,255,156 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0854:Pask
|
UTSW |
1 |
93,255,122 (GRCm39) |
missense |
probably damaging |
0.99 |
R0854:Pask
|
UTSW |
1 |
93,255,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R0863:Pask
|
UTSW |
1 |
93,242,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R1052:Pask
|
UTSW |
1 |
93,258,549 (GRCm39) |
missense |
probably benign |
0.00 |
R1406:Pask
|
UTSW |
1 |
93,249,373 (GRCm39) |
missense |
probably benign |
0.00 |
R1406:Pask
|
UTSW |
1 |
93,249,373 (GRCm39) |
missense |
probably benign |
0.00 |
R1831:Pask
|
UTSW |
1 |
93,248,491 (GRCm39) |
splice site |
probably null |
|
R1958:Pask
|
UTSW |
1 |
93,249,180 (GRCm39) |
missense |
probably benign |
0.00 |
R2143:Pask
|
UTSW |
1 |
93,249,019 (GRCm39) |
missense |
probably benign |
0.00 |
R2144:Pask
|
UTSW |
1 |
93,249,019 (GRCm39) |
missense |
probably benign |
0.00 |
R2145:Pask
|
UTSW |
1 |
93,249,019 (GRCm39) |
missense |
probably benign |
0.00 |
R2509:Pask
|
UTSW |
1 |
93,258,485 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2858:Pask
|
UTSW |
1 |
93,249,373 (GRCm39) |
missense |
probably benign |
0.00 |
R2899:Pask
|
UTSW |
1 |
93,262,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R3545:Pask
|
UTSW |
1 |
93,244,837 (GRCm39) |
missense |
probably damaging |
1.00 |
R3778:Pask
|
UTSW |
1 |
93,255,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R4111:Pask
|
UTSW |
1 |
93,238,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R4514:Pask
|
UTSW |
1 |
93,249,855 (GRCm39) |
missense |
probably benign |
0.03 |
R4527:Pask
|
UTSW |
1 |
93,248,224 (GRCm39) |
missense |
probably benign |
|
R4580:Pask
|
UTSW |
1 |
93,249,830 (GRCm39) |
missense |
probably benign |
0.36 |
R4718:Pask
|
UTSW |
1 |
93,249,918 (GRCm39) |
missense |
possibly damaging |
0.67 |
R4775:Pask
|
UTSW |
1 |
93,265,246 (GRCm39) |
missense |
probably damaging |
0.97 |
R5036:Pask
|
UTSW |
1 |
93,249,801 (GRCm39) |
nonsense |
probably null |
|
R5070:Pask
|
UTSW |
1 |
93,258,596 (GRCm39) |
missense |
probably damaging |
1.00 |
R5084:Pask
|
UTSW |
1 |
93,249,819 (GRCm39) |
missense |
probably benign |
|
R5151:Pask
|
UTSW |
1 |
93,262,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R5196:Pask
|
UTSW |
1 |
93,237,805 (GRCm39) |
unclassified |
probably benign |
|
R5643:Pask
|
UTSW |
1 |
93,265,065 (GRCm39) |
critical splice donor site |
probably null |
|
R5739:Pask
|
UTSW |
1 |
93,249,778 (GRCm39) |
missense |
probably benign |
|
R6126:Pask
|
UTSW |
1 |
93,242,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R7161:Pask
|
UTSW |
1 |
93,238,627 (GRCm39) |
missense |
probably benign |
|
R7284:Pask
|
UTSW |
1 |
93,248,391 (GRCm39) |
missense |
probably benign |
0.01 |
R7289:Pask
|
UTSW |
1 |
93,259,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R8303:Pask
|
UTSW |
1 |
93,248,286 (GRCm39) |
missense |
probably benign |
0.10 |
R8309:Pask
|
UTSW |
1 |
93,240,573 (GRCm39) |
nonsense |
probably null |
|
R8321:Pask
|
UTSW |
1 |
93,248,377 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8476:Pask
|
UTSW |
1 |
93,249,361 (GRCm39) |
missense |
probably benign |
0.00 |
R8814:Pask
|
UTSW |
1 |
93,248,307 (GRCm39) |
missense |
probably benign |
0.00 |
R9061:Pask
|
UTSW |
1 |
93,253,191 (GRCm39) |
nonsense |
probably null |
|
R9198:Pask
|
UTSW |
1 |
93,265,205 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9406:Pask
|
UTSW |
1 |
93,251,987 (GRCm39) |
missense |
probably benign |
0.02 |
R9578:Pask
|
UTSW |
1 |
93,263,390 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Pask
|
UTSW |
1 |
93,244,523 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Pask
|
UTSW |
1 |
93,263,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CCATCTCCTGGGAAAGAACAAG -3'
(R):5'- TCCTCCTAGGTTCTGAAATGTCAC -3'
Sequencing Primer
(F):5'- CATCTCCTGGGAAAGAACAAGAGGAC -3'
(R):5'- CAGATCTGGTCAATTGCC -3'
|
Posted On |
2020-07-28 |