Incidental Mutation 'R0472:Pask'
ID |
46799 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pask
|
Ensembl Gene |
ENSMUSG00000026274 |
Gene Name |
PAS domain containing serine/threonine kinase |
Synonyms |
Paskin |
MMRRC Submission |
038672-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.085)
|
Stock # |
R0472 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
93237159-93271244 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 93248639 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 920
(D920E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027493
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027493]
|
AlphaFold |
Q8CEE6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027493
AA Change: D920E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000027493 Gene: ENSMUSG00000026274 AA Change: D920E
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128655
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139028
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188069
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
97% (65/67) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700128F08Rik |
A |
G |
9: 8,222,123 (GRCm39) |
|
noncoding transcript |
Het |
AI182371 |
T |
C |
2: 34,975,218 (GRCm39) |
N337S |
probably benign |
Het |
Aldh3b1 |
C |
T |
19: 3,964,024 (GRCm39) |
R426H |
probably damaging |
Het |
Arap2 |
A |
G |
5: 62,864,002 (GRCm39) |
F541L |
probably damaging |
Het |
Asap2 |
G |
T |
12: 21,263,186 (GRCm39) |
R267L |
possibly damaging |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Bmp8b |
T |
A |
4: 123,015,692 (GRCm39) |
D226E |
probably benign |
Het |
C1ra |
T |
A |
6: 124,494,403 (GRCm39) |
D283E |
possibly damaging |
Het |
Cacul1 |
G |
T |
19: 60,531,464 (GRCm39) |
H268Q |
probably damaging |
Het |
Cd9 |
T |
C |
6: 125,449,396 (GRCm39) |
N49D |
probably benign |
Het |
Cdc42bpa |
A |
G |
1: 179,867,744 (GRCm39) |
H193R |
probably damaging |
Het |
Cep290 |
G |
A |
10: 100,387,317 (GRCm39) |
G1935E |
probably benign |
Het |
Cep350 |
A |
T |
1: 155,790,469 (GRCm39) |
I1362N |
probably damaging |
Het |
Chchd7 |
A |
T |
4: 3,943,416 (GRCm39) |
N61I |
possibly damaging |
Het |
Clca3a1 |
A |
T |
3: 144,733,106 (GRCm39) |
L134Q |
probably damaging |
Het |
Clec2j |
T |
C |
6: 128,633,565 (GRCm39) |
|
noncoding transcript |
Het |
Clvs1 |
G |
A |
4: 9,281,801 (GRCm39) |
A82T |
probably damaging |
Het |
Csn1s1 |
A |
T |
5: 87,825,486 (GRCm39) |
Y231F |
possibly damaging |
Het |
Cyp2c55 |
A |
T |
19: 39,019,823 (GRCm39) |
T254S |
probably benign |
Het |
Decr1 |
A |
G |
4: 15,919,849 (GRCm39) |
S290P |
probably damaging |
Het |
Dnai2 |
T |
A |
11: 114,636,015 (GRCm39) |
|
probably benign |
Het |
Dock4 |
C |
A |
12: 40,888,437 (GRCm39) |
|
probably benign |
Het |
Dst |
T |
C |
1: 34,306,041 (GRCm39) |
|
probably null |
Het |
Elmo2 |
A |
G |
2: 165,140,250 (GRCm39) |
I315T |
probably damaging |
Het |
Fcho2 |
A |
G |
13: 98,884,775 (GRCm39) |
F431L |
probably benign |
Het |
Fez2 |
A |
G |
17: 78,692,261 (GRCm39) |
|
probably benign |
Het |
Gas2l3 |
C |
T |
10: 89,262,339 (GRCm39) |
A128T |
probably damaging |
Het |
Hpse2 |
T |
C |
19: 43,001,602 (GRCm39) |
I222M |
probably damaging |
Het |
Katnip |
A |
G |
7: 125,472,139 (GRCm39) |
N1548S |
probably damaging |
Het |
Kcna2 |
A |
G |
3: 107,012,832 (GRCm39) |
D471G |
probably benign |
Het |
Kcnj13 |
T |
A |
1: 87,314,568 (GRCm39) |
Y218F |
probably benign |
Het |
Kif1a |
T |
C |
1: 92,946,719 (GRCm39) |
H1763R |
probably damaging |
Het |
Krt1c |
C |
T |
15: 101,721,688 (GRCm39) |
R451H |
probably damaging |
Het |
Lama2 |
A |
G |
10: 26,866,863 (GRCm39) |
V2877A |
probably damaging |
Het |
Lrrc2 |
A |
T |
9: 110,791,685 (GRCm39) |
M80L |
probably benign |
Het |
Naip6 |
A |
G |
13: 100,438,768 (GRCm39) |
V343A |
probably benign |
Het |
Nedd4l |
T |
C |
18: 65,341,532 (GRCm39) |
Y753H |
probably damaging |
Het |
Nif3l1 |
A |
C |
1: 58,486,987 (GRCm39) |
S58R |
probably damaging |
Het |
Or51h7 |
A |
T |
7: 102,591,258 (GRCm39) |
C175* |
probably null |
Het |
Or5w20 |
T |
A |
2: 87,726,837 (GRCm39) |
V98E |
possibly damaging |
Het |
Or9r3 |
G |
A |
10: 129,948,449 (GRCm39) |
S70F |
probably damaging |
Het |
Osbpl11 |
C |
A |
16: 33,054,814 (GRCm39) |
Y632* |
probably null |
Het |
Pclo |
T |
C |
5: 14,731,608 (GRCm39) |
V3370A |
unknown |
Het |
Ptpn21 |
G |
A |
12: 98,670,499 (GRCm39) |
|
probably benign |
Het |
Rph3al |
T |
C |
11: 75,799,795 (GRCm39) |
I55V |
probably benign |
Het |
Rsad2 |
T |
G |
12: 26,504,167 (GRCm39) |
I121L |
possibly damaging |
Het |
Sergef |
T |
G |
7: 46,283,170 (GRCm39) |
|
probably benign |
Het |
Sp110 |
C |
T |
1: 85,516,841 (GRCm39) |
E219K |
possibly damaging |
Het |
Tas2r104 |
T |
C |
6: 131,662,434 (GRCm39) |
I92V |
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,638,364 (GRCm39) |
S456P |
possibly damaging |
Het |
Tbc1d23 |
T |
A |
16: 56,993,469 (GRCm39) |
I566F |
possibly damaging |
Het |
Tbc1d9b |
A |
G |
11: 50,059,055 (GRCm39) |
|
probably null |
Het |
Tie1 |
T |
A |
4: 118,333,344 (GRCm39) |
I841L |
possibly damaging |
Het |
Tpo |
A |
G |
12: 30,150,485 (GRCm39) |
V465A |
probably benign |
Het |
Ttll3 |
A |
T |
6: 113,386,300 (GRCm39) |
Q711L |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,783,385 (GRCm39) |
R869H |
probably benign |
Het |
Uggt2 |
A |
G |
14: 119,332,748 (GRCm39) |
V62A |
probably damaging |
Het |
Usp34 |
T |
C |
11: 23,334,509 (GRCm39) |
|
probably benign |
Het |
Vmn1r17 |
C |
A |
6: 57,338,304 (GRCm39) |
M20I |
probably benign |
Het |
Vmn1r71 |
G |
C |
7: 10,482,019 (GRCm39) |
S223C |
possibly damaging |
Het |
Vmn2r120 |
C |
T |
17: 57,831,518 (GRCm39) |
V424I |
probably benign |
Het |
Vps13b |
T |
C |
15: 35,417,779 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
C |
A |
5: 102,105,309 (GRCm39) |
A173S |
probably benign |
Het |
Wdr59 |
T |
C |
8: 112,213,629 (GRCm39) |
|
probably null |
Het |
Ythdc2 |
A |
T |
18: 44,997,424 (GRCm39) |
M994L |
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,320,120 (GRCm39) |
F450I |
probably damaging |
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 |
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 |
R8277:Pask
|
UTSW |
1 |
93,253,085 (GRCm39) |
critical splice donor site |
probably null |
|
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'- GCTCCACACGCTTGACTTCAAACTG -3'
(R):5'- AGAGATGTTGCTCCTTACTGGGACC -3'
Sequencing Primer
(F):5'- CCTCATTACACATGGCTAGGG -3'
(R):5'- GACCTATTTTGACCTTAGTGAAGGC -3'
|
Posted On |
2013-06-11 |