Incidental Mutation 'R9061:Pask'
ID 688954
Institutional Source Beutler Lab
Gene Symbol Pask
Ensembl Gene ENSMUSG00000026274
Gene Name PAS domain containing serine/threonine kinase
Synonyms Paskin
MMRRC Submission 068887-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R9061 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 93237159-93271244 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 93253191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 399 (Q399*)
Ref Sequence ENSEMBL: ENSMUSP00000027493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027493]
AlphaFold Q8CEE6
Predicted Effect probably null
Transcript: ENSMUST00000027493
AA Change: Q399*
SMART Domains Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274
AA Change: Q399*

DomainStartEndE-ValueType
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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (60/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930518I15Rik A G 2: 156,699,133 (GRCm39) M1T probably null Het
Abca13 A G 11: 9,227,847 (GRCm39) E630G probably benign Het
Abcf2 T A 5: 24,778,504 (GRCm39) H218L possibly damaging Het
Abo A T 2: 26,733,395 (GRCm39) M268K probably benign Het
Ankrd33 G T 15: 101,014,029 (GRCm39) probably benign Het
Apc G C 18: 34,446,251 (GRCm39) R1049T probably damaging Het
Atg16l2 T C 7: 100,941,338 (GRCm39) K412E probably damaging Het
Cachd1 G A 4: 100,809,202 (GRCm39) probably null Het
Ccdc152 T G 15: 3,330,643 (GRCm39) K11Q probably damaging Het
Ccdc38 T A 10: 93,401,735 (GRCm39) W232R probably damaging Het
Cluh C T 11: 74,551,192 (GRCm39) P347L possibly damaging Het
Cntn3 A G 6: 102,314,288 (GRCm39) L142P probably damaging Het
Ctnnd2 T A 15: 30,806,884 (GRCm39) M601K probably damaging Het
D930048N14Rik G A 11: 51,545,734 (GRCm39) D209N unknown Het
Dcaf6 A T 1: 165,164,332 (GRCm39) N814K probably damaging Het
Dhx8 A T 11: 101,632,406 (GRCm39) D455V possibly damaging Het
Fcna A C 2: 25,514,956 (GRCm39) L301W possibly damaging Het
Garin1b C T 6: 29,323,902 (GRCm39) T209I probably benign Het
Gdf9 T G 11: 53,324,269 (GRCm39) C13G probably damaging Het
Hells T A 19: 38,933,858 (GRCm39) N226K probably damaging Het
Hes6 A G 1: 91,340,061 (GRCm39) S132P probably damaging Het
Ifi207 A T 1: 173,564,153 (GRCm39) probably benign Het
Ighv16-1 A T 12: 114,032,504 (GRCm39) Y99* probably null Het
Kirrel2 T C 7: 30,150,305 (GRCm39) I508V probably benign Het
Klhl38 T A 15: 58,186,022 (GRCm39) I236F probably damaging Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Lamc1 A T 1: 153,126,870 (GRCm39) C425* probably null Het
Letm1 A G 5: 33,918,213 (GRCm39) F311L probably damaging Het
Lypd11 A T 7: 24,422,173 (GRCm39) I192N possibly damaging Het
Mapk8ip2 T C 15: 89,342,016 (GRCm39) V409A possibly damaging Het
Mybpc1 C T 10: 88,391,501 (GRCm39) C318Y probably damaging Het
Myo15a A G 11: 60,393,692 (GRCm39) Y1141C Het
Ndufv2 T A 17: 66,390,475 (GRCm39) D165V probably damaging Het
Nrde2 T C 12: 100,110,123 (GRCm39) K303E probably benign Het
Nup205 T A 6: 35,196,808 (GRCm39) probably benign Het
Or1j12 A G 2: 36,342,897 (GRCm39) Q100R probably damaging Het
Or2f2 A T 6: 42,767,141 (GRCm39) H56L probably damaging Het
Or5b118 A G 19: 13,448,523 (GRCm39) N21S probably damaging Het
Otof C T 5: 30,546,001 (GRCm39) V451I possibly damaging Het
Pbk T A 14: 66,049,439 (GRCm39) F39I probably benign Het
Pdzd2 T C 15: 12,374,753 (GRCm39) K1794R possibly damaging Het
Pibf1 T C 14: 99,424,069 (GRCm39) probably null Het
Ppip5k2 G A 1: 97,645,187 (GRCm39) T1089I probably damaging Het
Ppp1cb T A 5: 32,635,492 (GRCm39) F45L possibly damaging Het
Pramel21 T G 4: 143,342,741 (GRCm39) S283A possibly damaging Het
Samd4 T C 14: 47,301,728 (GRCm39) F344S probably damaging Het
Slc2a13 C T 15: 91,234,333 (GRCm39) M334I possibly damaging Het
Slc37a1 C T 17: 31,556,365 (GRCm39) A363V probably damaging Het
Slc8a3 T A 12: 81,263,540 (GRCm39) I616F probably damaging Het
Srcin1 A G 11: 97,427,206 (GRCm39) L257P probably damaging Het
Tarbp1 A G 8: 127,173,880 (GRCm39) F945L probably damaging Het
Thbs4 A T 13: 92,911,187 (GRCm39) probably null Het
Tmco1 C T 1: 167,136,132 (GRCm39) probably benign Het
Trim62 G A 4: 128,802,963 (GRCm39) V338M probably damaging Het
Ttll9 C T 2: 152,818,113 (GRCm39) H20Y possibly damaging Het
Uevld A T 7: 46,587,806 (GRCm39) I298N probably damaging Het
Zan T C 5: 137,462,653 (GRCm39) E842G probably damaging Het
Zdbf2 T G 1: 63,346,296 (GRCm39) S1558R Het
Other mutations in Pask
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AGGACAGAGCCTCTCATTGC -3'
(R):5'- TGAACTGTTCATTCACATTGCTGC -3'

Sequencing Primer
(F):5'- AAAGGTCACTAGGGGCCTCTG -3'
(R):5'- GCTATTCTCATTTTCCAAGGAGG -3'
Posted On 2021-11-19