Incidental Mutation 'R8303:Pask'
| ID |
639298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pask
|
| Ensembl Gene |
ENSMUSG00000026274 |
| Gene Name |
PAS domain containing serine/threonine kinase |
| Synonyms |
Paskin |
| MMRRC Submission |
067715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R8303 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
93237159-93271244 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 93248286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1005
(R1005L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027493
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027493]
|
| AlphaFold |
Q8CEE6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027493
AA Change: R1005L
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274
AA Change: R1005L
| 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% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
T |
A |
11: 58,770,966 (GRCm39) |
D149E |
probably benign |
Het |
| Aars2 |
T |
C |
17: 45,818,523 (GRCm39) |
C103R |
probably damaging |
Het |
| Aass |
T |
C |
6: 23,092,367 (GRCm39) |
D591G |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,172,205 (GRCm39) |
T1662A |
probably benign |
Het |
| Arhgap42 |
A |
T |
9: 9,009,327 (GRCm39) |
I520N |
probably damaging |
Het |
| Arhgef3 |
T |
C |
14: 27,116,095 (GRCm39) |
I279T |
probably damaging |
Het |
| Arid4b |
A |
G |
13: 14,294,808 (GRCm39) |
K30R |
probably damaging |
Het |
| Asxl3 |
C |
T |
18: 22,657,473 (GRCm39) |
R1828W |
probably benign |
Het |
| Bid |
T |
C |
6: 120,877,200 (GRCm39) |
Y47C |
probably benign |
Het |
| Card6 |
T |
C |
15: 5,134,847 (GRCm39) |
T119A |
probably benign |
Het |
| Cbr1 |
T |
C |
16: 93,406,905 (GRCm39) |
I207T |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,759,575 (GRCm39) |
L443P |
probably damaging |
Het |
| Cfap251 |
T |
A |
5: 123,460,650 (GRCm39) |
V1204E |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,754,274 (GRCm39) |
R1017* |
probably null |
Het |
| Cfap52 |
T |
A |
11: 67,830,621 (GRCm39) |
S280C |
probably benign |
Het |
| Cntnap5b |
T |
C |
1: 100,069,022 (GRCm39) |
F81L |
probably damaging |
Het |
| Cyp4a12a |
A |
G |
4: 115,186,130 (GRCm39) |
D430G |
probably damaging |
Het |
| Cyp4f37 |
G |
A |
17: 32,853,152 (GRCm39) |
|
probably null |
Het |
| Dclre1a |
A |
G |
19: 56,531,121 (GRCm39) |
S742P |
probably damaging |
Het |
| Ddx54 |
T |
C |
5: 120,759,855 (GRCm39) |
F414S |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,381,319 (GRCm39) |
N2688S |
probably benign |
Het |
| Elovl4 |
A |
T |
9: 83,670,320 (GRCm39) |
|
probably null |
Het |
| Erbin |
A |
C |
13: 103,966,694 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,818,724 (GRCm39) |
D4819G |
probably benign |
Het |
| Gapvd1 |
G |
A |
2: 34,602,212 (GRCm39) |
P645L |
probably damaging |
Het |
| Gbp9 |
T |
C |
5: 105,229,171 (GRCm39) |
E492G |
possibly damaging |
Het |
| Gpc5 |
T |
A |
14: 115,665,667 (GRCm39) |
I497K |
probably benign |
Het |
| Hlx |
A |
G |
1: 184,459,905 (GRCm39) |
L411P |
probably damaging |
Het |
| Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
| Ice1 |
A |
T |
13: 70,754,526 (GRCm39) |
I520N |
probably benign |
Het |
| Ist1 |
T |
C |
8: 110,410,412 (GRCm39) |
|
probably null |
Het |
| Itga3 |
T |
C |
11: 94,953,466 (GRCm39) |
D292G |
probably benign |
Het |
| Kif21a |
T |
C |
15: 90,855,399 (GRCm39) |
N655S |
probably damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,662 (GRCm39) |
H373R |
probably benign |
Het |
| Ngdn |
A |
T |
14: 55,260,602 (GRCm39) |
H270L |
probably benign |
Het |
| Nol4 |
G |
A |
18: 23,173,231 (GRCm39) |
|
probably benign |
Het |
| Nup50l |
T |
C |
6: 96,142,702 (GRCm39) |
E114G |
probably benign |
Het |
| Nxpe5 |
G |
A |
5: 138,239,264 (GRCm39) |
|
probably benign |
Het |
| Or1j18 |
A |
G |
2: 36,624,467 (GRCm39) |
I45V |
probably damaging |
Het |
| Or4c11c |
G |
A |
2: 88,661,633 (GRCm39) |
M57I |
possibly damaging |
Het |
| Or8d1 |
A |
C |
9: 38,766,837 (GRCm39) |
T160P |
probably damaging |
Het |
| Or8g30 |
A |
C |
9: 39,230,689 (GRCm39) |
S74A |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,736,758 (GRCm39) |
T875A |
probably damaging |
Het |
| Pdrg1 |
A |
T |
2: 152,851,587 (GRCm39) |
I130N |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,073,466 (GRCm39) |
M448K |
unknown |
Het |
| R3hdml |
T |
G |
2: 163,341,832 (GRCm39) |
V204G |
probably damaging |
Het |
| Rasa4 |
G |
A |
5: 136,118,235 (GRCm39) |
V32M |
possibly damaging |
Het |
| Scaf8 |
T |
C |
17: 3,198,827 (GRCm39) |
V44A |
unknown |
Het |
| Smad3 |
G |
T |
9: 63,574,760 (GRCm39) |
P177T |
probably benign |
Het |
| Smpd4 |
T |
A |
16: 17,457,195 (GRCm39) |
F384L |
probably damaging |
Het |
| Sycp2l |
G |
C |
13: 41,283,275 (GRCm39) |
L170F |
probably damaging |
Het |
| Tas2r107 |
T |
C |
6: 131,636,585 (GRCm39) |
S155G |
probably benign |
Het |
| Tmem143 |
T |
A |
7: 45,565,994 (GRCm39) |
M439K |
probably benign |
Het |
| Ttc41 |
A |
T |
10: 86,555,494 (GRCm39) |
T317S |
probably benign |
Het |
| Umps |
A |
G |
16: 33,784,240 (GRCm39) |
V71A |
possibly damaging |
Het |
| Usp17lc |
G |
A |
7: 103,067,389 (GRCm39) |
G228D |
possibly damaging |
Het |
| Usp17ld |
C |
T |
7: 102,900,023 (GRCm39) |
C303Y |
probably damaging |
Het |
| Vmn2r65 |
C |
A |
7: 84,589,391 (GRCm39) |
E842* |
probably null |
Het |
| Vmn2r94 |
A |
G |
17: 18,464,433 (GRCm39) |
F619S |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,594,270 (GRCm39) |
T3154A |
probably benign |
Het |
| Vps13b |
C |
T |
15: 35,640,063 (GRCm39) |
T1311I |
probably damaging |
Het |
| Xpot |
A |
T |
10: 121,447,405 (GRCm39) |
Y353* |
probably null |
Het |
| Zfp319 |
A |
T |
8: 96,055,765 (GRCm39) |
L146Q |
probably damaging |
Het |
| Zfp422 |
T |
A |
6: 116,603,612 (GRCm39) |
H129L |
probably damaging |
Het |
| Zzef1 |
T |
C |
11: 72,808,015 (GRCm39) |
F2709L |
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 |
|
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 |
|
R8277:Pask
|
UTSW |
1 |
93,253,085 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- TTACACAGGGTACTAGAAGACAACG -3'
(R):5'- GCTTTGTAAACCCTAGCCATGTG -3'
Sequencing Primer
(F):5'- GTACTAGAAGACAACGTTAAAAAGCC -3'
(R):5'- ACCCTAGCCATGTGTAATGAGGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation