Mutagenetix > Incidental Mutation

Incidental Mutation 'R0854:Pask'

82643

Institutional Source

Beutler Lab

Gene Symbol

Pask

Ensembl Gene

ENSMUSG00000026274

Gene Name

PAS domain containing serine/threonine kinase

Synonyms

Paskin

MMRRC Submission

039033-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

R0854 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

93237159-93271244 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93255122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 316 (K316M)

Ref Sequence

ENSEMBL: ENSMUSP00000027493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027493]

AlphaFold

Q8CEE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000027493
AA Change: K316M

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274
AA Change: K316M

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: ENSMUST00000139028

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 94.9%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox12b	G	A	11: 69,055,302 (GRCm39)		probably null	Het
Brox	T	G	1: 183,069,322 (GRCm39)	R128S	possibly damaging	Het
Cfap57	G	A	4: 118,419,069 (GRCm39)	T1153I	probably benign	Het
Ddt	C	T	10: 75,607,329 (GRCm39)	R54H	probably benign	Het
Epm2aip1	T	A	9: 111,101,567 (GRCm39)	L180*	probably null	Het
Fer1l6	A	G	15: 58,431,037 (GRCm39)	I231V	probably benign	Het
Gng7	A	G	10: 80,787,507 (GRCm39)	V52A	possibly damaging	Het
Hbb-bh2	T	C	7: 103,489,272 (GRCm39)	H93R	probably damaging	Het
Muc4	A	T	16: 32,599,329 (GRCm39)	H3292L	possibly damaging	Het
Mybpc2	T	C	7: 44,166,426 (GRCm39)	E188G	probably benign	Het
Myh4	T	C	11: 67,149,973 (GRCm39)	L1844P	possibly damaging	Het
Ncan	G	T	8: 70,565,202 (GRCm39)	R242S	probably damaging	Het
Nceh1	T	A	3: 27,295,468 (GRCm39)	L243Q	probably damaging	Het
Notch4	T	A	17: 34,787,546 (GRCm39)	S369T	probably damaging	Het
P3h3	G	T	6: 124,831,896 (GRCm39)	D296E	probably benign	Het
Pgbd1	A	G	13: 21,607,342 (GRCm39)	V284A	probably damaging	Het
Sec24c	A	G	14: 20,739,408 (GRCm39)	Y40C	probably damaging	Het
Sema6d	C	T	2: 124,507,222 (GRCm39)	T1010M	probably damaging	Het
Thsd1	G	A	8: 22,748,587 (GRCm39)	G433E	probably damaging	Het
Tnfsf18	T	A	1: 161,331,237 (GRCm39)	I129N	probably damaging	Het
Tsc22d1	C	T	14: 76,655,641 (GRCm39)	Q625*	probably null	Het
Vezf1	A	T	11: 88,068,435 (GRCm38)		probably benign	Het
Vmn2r58	T	G	7: 41,486,562 (GRCm39)	N778H	probably damaging	Het
Wdr17	C	T	8: 55,156,916 (GRCm39)	V7I	probably benign	Het
Zranb1	T	C	7: 132,551,577 (GRCm39)	V102A	possibly 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	93,255,134 (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'- GTGCTCAGGATGTGCGAACAAAC -3'
(R):5'- GTGAGGCTGGGATCTAAAACATCGG -3'

Sequencing Primer
(F):5'- CTCTGACGAATGCAGAATGGTTTC -3'
(R):5'- CATCGGAATTGTGCCTACAC -3'

Posted On

2013-11-08