Incidental Mutation 'R3545:Pask'
ID 268151
Institutional Source Beutler Lab
Gene Symbol Pask
Ensembl Gene ENSMUSG00000026274
Gene Name PAS domain containing serine/threonine kinase
Synonyms Paskin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # R3545 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 93237159-93271244 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93244837 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 1095 (V1095D)
Ref Sequence ENSEMBL: ENSMUSP00000027493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027493]
AlphaFold Q8CEE6
Predicted Effect probably damaging
Transcript: ENSMUST00000027493
AA Change: V1095D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274
AA Change: V1095D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128655
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133886
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139028
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188069
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 A G 14: 31,437,217 (GRCm39) L646S probably benign Het
Clip1 A G 5: 123,769,141 (GRCm39) L532P probably damaging Het
Efl1 A T 7: 82,412,018 (GRCm39) E802D probably benign Het
F11r T C 1: 171,288,829 (GRCm39) V149A probably damaging Het
Fhit T C 14: 9,870,095 (GRCm38) T125A probably benign Het
Fmn2 A G 1: 174,330,192 (GRCm39) D194G unknown Het
Gdi1 T A X: 73,351,414 (GRCm39) F175L possibly damaging Het
Herc3 T C 6: 58,833,670 (GRCm39) S186P probably damaging Het
Hexa A G 9: 59,464,581 (GRCm39) N157S probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Lig1 T A 7: 13,026,089 (GRCm39) N281K possibly damaging Het
Lrp1b A T 2: 40,490,300 (GRCm39) L287H probably damaging Het
Mcf2 T C X: 59,180,806 (GRCm39) K74R probably damaging Het
Nat1 A G 8: 67,943,684 (GRCm39) D23G possibly damaging Het
Nbeal1 T C 1: 60,317,939 (GRCm39) F1959L probably damaging Het
Ncf1 T A 5: 134,255,463 (GRCm39) K143* probably null Het
Nid2 T A 14: 19,813,779 (GRCm39) Y195N probably damaging Het
Nlrp9a T C 7: 26,256,757 (GRCm39) I125T probably benign Het
Nme7 T C 1: 164,213,351 (GRCm39) F343S probably damaging Het
Otud4 A G 8: 80,391,684 (GRCm39) E443G probably damaging Het
Palld G T 8: 62,003,112 (GRCm39) A329E possibly damaging Het
Pdzd2 C T 15: 12,375,557 (GRCm39) R1526Q probably benign Het
Prkcq A G 2: 11,288,627 (GRCm39) K527E probably benign Het
Ramac T A 7: 81,418,270 (GRCm39) probably null Het
Reln A G 5: 22,432,598 (GRCm39) V134A possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Septin9 T C 11: 117,243,499 (GRCm39) I350T probably damaging Het
Slc16a7 T A 10: 125,130,569 (GRCm39) K39* probably null Het
Spata32 T C 11: 103,101,570 (GRCm39) E21G possibly damaging Het
Tbc1d1 G A 5: 64,443,350 (GRCm39) R523Q probably damaging Het
Thnsl1 T G 2: 21,217,438 (GRCm39) D397E probably benign Het
Tubal3 T G 13: 3,983,560 (GRCm39) *447G probably null Het
Uprt T A X: 103,526,934 (GRCm39) L123H probably damaging Het
Usp9x T C X: 12,994,629 (GRCm39) L940P probably benign 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
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'- ACCAGCTGGAAGAACTCTTGG -3'
(R):5'- AGCAAGTAGAAATTGCCAGCC -3'

Sequencing Primer
(F):5'- ACAAGGCCAGGTCCAGTTTTG -3'
(R):5'- GAAATTGCCAGCCTTTTTATTCAGC -3'
Posted On 2015-02-19