Mutagenetix > Incidental Mutation

Incidental Mutation 'R7289:Pask'

566200

Institutional Source

Beutler Lab

Gene Symbol

Pask

Ensembl Gene

ENSMUSG00000026274

Gene Name

PAS domain containing serine/threonine kinase

Synonyms

Paskin

MMRRC Submission

045396-MU

Accession Numbers

Essential gene?

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

Stock #

R7289 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93237159-93271244 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93259309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 236 (V236E)

Ref Sequence

ENSEMBL: ENSMUSP00000027493 (fasta)

Gene Model

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

AlphaFold

Q8CEE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000027493
AA Change: V236E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000027493
Gene: ENSMUSG00000026274
AA Change: V236E

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: 100.0%
10x: 99.7%
20x: 99.0%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,818,550 (GRCm39)	D112N	probably damaging	Het
Abca7	T	A	10: 79,845,778 (GRCm39)	I1580K	probably damaging	Het
Aebp1	A	G	11: 5,815,059 (GRCm39)	D234G	probably damaging	Het
Agap1	T	A	1: 89,383,153 (GRCm39)	M1K	probably null	Het
Agrn	A	T	4: 156,263,389 (GRCm39)	L345H	probably damaging	Het
Amfr	A	G	8: 94,725,754 (GRCm39)	M209T	possibly damaging	Het
Angel2	G	A	1: 190,673,371 (GRCm39)	R338H	possibly damaging	Het
Ankrd27	C	T	7: 35,330,674 (GRCm39)	A866V	probably damaging	Het
Apc	G	A	18: 34,448,324 (GRCm39)	R1740Q	probably damaging	Het
Arhgap32	A	T	9: 32,168,233 (GRCm39)	S739C	possibly damaging	Het
Arhgap32	G	C	9: 32,168,234 (GRCm39)	S739T	probably benign	Het
Arhgef2	C	T	3: 88,543,192 (GRCm39)	S418L	probably benign	Het
Arhgef25	T	C	10: 127,019,641 (GRCm39)	T472A	possibly damaging	Het
Atrnl1	C	T	19: 57,638,846 (GRCm39)	S328F	probably benign	Het
Bahcc1	C	T	11: 120,171,000 (GRCm39)	A1514V	probably benign	Het
Calcoco2	C	T	11: 95,990,823 (GRCm39)	E305K	unknown	Het
Ccn1	C	T	3: 145,354,428 (GRCm39)	W161*	probably null	Het
Cdc42bpa	A	T	1: 179,889,362 (GRCm39)	K203*	probably null	Het
Cmc1	A	T	9: 117,904,250 (GRCm39)	I47N	possibly damaging	Het
Cntln	A	G	4: 84,964,540 (GRCm39)	E656G	possibly damaging	Het
Dcun1d3	T	C	7: 119,458,864 (GRCm39)	K57R	possibly damaging	Het
Ddx23	T	C	15: 98,546,492 (GRCm39)	E559G	probably damaging	Het
Dennd6a	G	A	14: 26,333,193 (GRCm39)	R367Q	probably damaging	Het
Desi2	A	T	1: 178,083,702 (GRCm39)		probably benign	Het
Dido1	T	C	2: 180,301,424 (GRCm39)	D2160G	unknown	Het
Efcab3	T	C	11: 104,929,184 (GRCm39)	M4838T	probably benign	Het
Epb41	A	G	4: 131,718,520 (GRCm39)		probably null	Het
Esrrb	T	A	12: 86,517,331 (GRCm39)		probably null	Het
Fabp1	C	A	6: 71,180,111 (GRCm39)	T94N	probably benign	Het
Fam120a	A	T	13: 49,045,482 (GRCm39)	C785S	probably damaging	Het
Fam243	T	C	16: 92,117,710 (GRCm39)	I193V	probably damaging	Het
Foxc1	A	G	13: 31,991,243 (GRCm39)	Y18C	probably damaging	Het
Fshr	T	C	17: 89,293,272 (GRCm39)	T469A	probably benign	Het
Gm14399	T	A	2: 174,972,204 (GRCm39)	H517L	unknown	Het
Gm39115	G	T	7: 141,689,297 (GRCm39)	Q159K	unknown	Het
Gm7347	T	A	5: 26,262,306 (GRCm39)	I72F	possibly damaging	Het
Hmcn1	A	G	1: 150,559,466 (GRCm39)	V2395A	possibly damaging	Het
Ighv5-17	T	G	12: 113,822,858 (GRCm39)	T88P	probably damaging	Het
Insm2	T	A	12: 55,647,329 (GRCm39)	Y358N	probably damaging	Het
Kazn	A	T	4: 141,844,486 (GRCm39)	L409Q		Het
Kcnj5	A	C	9: 32,234,045 (GRCm39)	L90R	probably damaging	Het
Kcnv2	A	T	19: 27,311,084 (GRCm39)	T484S	probably damaging	Het
Kdm3b	T	C	18: 34,927,557 (GRCm39)	Y140H	probably benign	Het
Kifbp	A	C	10: 62,401,895 (GRCm39)	C261W	probably damaging	Het
Krt25	C	T	11: 99,212,098 (GRCm39)	A180T	probably benign	Het
Mmp1a	A	G	9: 7,467,294 (GRCm39)	E290G	probably damaging	Het
Muc21	G	A	17: 35,929,761 (GRCm39)	A1475V	unknown	Het
Nr3c1	T	C	18: 39,547,654 (GRCm39)	T755A	probably benign	Het
Nr3c1	A	T	18: 39,555,786 (GRCm39)	I517N	probably benign	Het
Nxpe2	A	G	9: 48,234,339 (GRCm39)		probably null	Het
Oaz1	C	A	10: 80,662,673 (GRCm39)	T27K	possibly damaging	Het
Or4p7	A	T	2: 88,222,050 (GRCm39)	H153L	probably damaging	Het
Or51f5	T	C	7: 102,424,634 (GRCm39)	I301T	probably damaging	Het
Or5t5	G	T	2: 86,617,034 (GRCm39)	C320F	probably benign	Het
Or6z3	T	A	7: 6,463,777 (GRCm39)	W90R	probably benign	Het
Or8k21	A	G	2: 86,145,369 (GRCm39)	M87T	probably benign	Het
Or8s5	A	G	15: 98,237,943 (GRCm39)	V309A	probably damaging	Het
Pafah2	A	T	4: 134,147,308 (GRCm39)	K319M	probably damaging	Het
Pcdh1	T	C	18: 38,322,966 (GRCm39)	T956A	probably damaging	Het
Pcdhb18	C	A	18: 37,623,700 (GRCm39)	N343K	probably damaging	Het
Pcsk2	A	T	2: 143,532,343 (GRCm39)	I164F	probably damaging	Het
Phf1	T	C	17: 27,154,289 (GRCm39)	Y169H	probably damaging	Het
Pkdrej	T	A	15: 85,705,301 (GRCm39)	I212F	probably benign	Het
Pnkp	T	A	7: 44,508,114 (GRCm39)	W146R	probably damaging	Het
Prkcb	A	T	7: 122,143,910 (GRCm39)	I325F	probably benign	Het
Ptpn21	C	T	12: 98,670,450 (GRCm39)	D239N	probably benign	Het
Ptprb	A	G	10: 116,164,070 (GRCm39)	T626A	probably damaging	Het
Pttg1	T	C	11: 43,311,916 (GRCm39)	N180D	probably benign	Het
Raly	G	A	2: 154,703,774 (GRCm39)	R115Q	probably damaging	Het
Rims2	A	T	15: 39,301,114 (GRCm39)	M474L	probably benign	Het
Sash1	A	T	10: 8,605,960 (GRCm39)	I810N	probably damaging	Het
Scnn1g	T	A	7: 121,337,304 (GRCm39)	L55*	probably null	Het
Sema6b	A	T	17: 56,432,573 (GRCm39)	D543E	possibly damaging	Het
Serpina11	C	T	12: 103,952,761 (GRCm39)	G5E	unknown	Het
Sesn3	A	T	9: 14,187,848 (GRCm39)	M1L	probably benign	Het
Sez6	T	A	11: 77,865,149 (GRCm39)	I632N	possibly damaging	Het
Sgo2b	A	T	8: 64,394,192 (GRCm39)	I49N	probably damaging	Het
Slc30a2	A	T	4: 134,071,524 (GRCm39)	I86F	possibly damaging	Het
Slc38a6	T	A	12: 73,333,786 (GRCm39)	W30R	probably benign	Het
Spata31g1	A	T	4: 42,972,379 (GRCm39)	T571S	probably benign	Het
Spata31g1	A	T	4: 42,973,252 (GRCm39)	I862F	possibly damaging	Het
Stk31	T	G	6: 49,415,393 (GRCm39)	V576G	probably benign	Het
Szt2	G	A	4: 118,233,075 (GRCm39)	T2297I	unknown	Het
Tmem208	T	C	8: 106,061,418 (GRCm39)	F148S	possibly damaging	Het
Tprg1l	A	G	4: 154,245,031 (GRCm39)	L19P	possibly damaging	Het
Tubg2	C	A	11: 101,050,897 (GRCm39)	N207K	probably damaging	Het
Ube2n	G	T	10: 95,377,612 (GRCm39)	K130N	probably benign	Het
Usp36	T	C	11: 118,164,355 (GRCm39)	Y384C	probably damaging	Het
Vcan	A	T	13: 89,840,852 (GRCm39)	L1564*	probably null	Het
Xkr6	A	T	14: 64,035,748 (GRCm39)	D283V	unknown	Het
Zfp654	T	C	16: 64,605,523 (GRCm39)	H352R	probably benign	Het
Zfp819	T	A	7: 43,266,506 (GRCm39)	C330S	probably damaging	Het
Zfp970	G	T	2: 177,167,086 (GRCm39)	C220F	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
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'- GTGTGACATCTTTAGGCATAAGAAC -3'
(R):5'- AGTTGAAGGGTCCACATTGC -3'

Sequencing Primer
(F):5'- CTTGAGGCATCAGTGATAGGACTCC -3'
(R):5'- GGTCCACATTGCAGATGCTG -3'

Posted On

2019-06-26