Mutagenetix > Incidental Mutation

Incidental Mutation 'R8332:Prag1'

644431

Institutional Source

Beutler Lab

Gene Symbol

Prag1

Ensembl Gene

ENSMUSG00000050271

Gene Name

PEAK1 related kinase activating pseudokinase 1

Synonyms

D8Ertd82e, NACK

MMRRC Submission

067728-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8332 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36561982-36614941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36613457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1003 (I1003T)

Ref Sequence

ENSEMBL: ENSMUSP00000106118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110492]

AlphaFold

Q571I4

Predicted Effect

probably damaging
Transcript: ENSMUST00000110492
AA Change: I1003T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: I1003T

Domain	Start	End	E-Value	Type
low complexity region	317	333	N/A	INTRINSIC
low complexity region	395	412	N/A	INTRINSIC
low complexity region	525	544	N/A	INTRINSIC
low complexity region	781	793	N/A	INTRINSIC
low complexity region	892	925	N/A	INTRINSIC
Pfam:Pkinase_Tyr	1060	1288	1.7e-7	PFAM
Pfam:Pkinase	1061	1293	1.5e-13	PFAM
low complexity region	1363	1373	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to the tyrosine protein kinase family. A similar protein in rat binds to Rho family GTPase 2 (Rnd2) and regulates neurite outgrowth via activation of Ras homolog gene family, member A (RhoA). [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous disruption of this gene leads to complete embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,815,436 (GRCm39)	D228G	probably benign	Het
Adgrv1	C	T	13: 81,593,462 (GRCm39)	R4175H	probably damaging	Het
Ahdc1	A	G	4: 132,791,282 (GRCm39)	D841G	possibly damaging	Het
Alms1	G	A	6: 85,597,561 (GRCm39)	V796I	probably benign	Het
Angptl8	A	T	9: 21,748,137 (GRCm39)		probably null	Het
Arhgap23	A	T	11: 97,381,960 (GRCm39)	S61T	unknown	Het
Bcl9	C	T	3: 97,117,086 (GRCm39)	G536D	possibly damaging	Het
Bscl2	A	G	19: 8,823,594 (GRCm39)	D220G	probably benign	Het
Ccl28	C	A	13: 120,107,514 (GRCm39)	C58*	probably null	Het
Ccr8	A	T	9: 119,923,440 (GRCm39)	Y185F	probably damaging	Het
Chsy3	T	A	18: 59,542,087 (GRCm39)	H408Q	probably damaging	Het
Cntrl	A	G	2: 35,016,037 (GRCm39)	E351G	probably damaging	Het
Cog5	A	T	12: 31,883,222 (GRCm39)	K384*	probably null	Het
Cpne1	T	C	2: 155,920,317 (GRCm39)	T187A	probably benign	Het
Crat	T	A	2: 30,295,084 (GRCm39)	I444F	possibly damaging	Het
Crb1	T	A	1: 139,165,152 (GRCm39)	M1052L	probably damaging	Het
Cstdc1	A	G	2: 148,625,377 (GRCm39)	K104E	probably damaging	Het
Erp44	A	G	4: 48,243,475 (GRCm39)		probably null	Het
Flad1	G	T	3: 89,314,828 (GRCm39)	Q290K	probably benign	Het
Gata3os	G	A	2: 9,887,650 (GRCm39)	R17H	unknown	Het
Gli3	G	T	13: 15,888,133 (GRCm39)	R516L	possibly damaging	Het
Gm19402	A	T	10: 77,526,048 (GRCm39)	C182S	unknown	Het
Herc2	T	C	7: 55,796,343 (GRCm39)	I1905T	probably damaging	Het
Ikbkb	A	T	8: 23,155,641 (GRCm39)	V617D	possibly damaging	Het
Intu	A	G	3: 40,629,719 (GRCm39)	I350V	probably benign	Het
Limd1	A	G	9: 123,308,319 (GRCm39)	D6G	probably damaging	Het
Llgl1	A	G	11: 60,601,210 (GRCm39)	D716G	possibly damaging	Het
Lrp1	G	A	10: 127,407,805 (GRCm39)	T1828I	probably damaging	Het
Or2at1	T	C	7: 99,417,334 (GRCm39)	*322Q	probably null	Het
Or6c38	A	G	10: 128,929,174 (GRCm39)	I223T	possibly damaging	Het
Piezo2	A	T	18: 63,145,857 (GRCm39)	I2689N	possibly damaging	Het
Rbm8a2	T	C	1: 175,805,967 (GRCm39)	D170G	unknown	Het
Rnf213	A	C	11: 119,374,524 (GRCm39)	Q5027P		Het
Robo1	T	C	16: 72,775,466 (GRCm39)	Y664H	probably damaging	Het
Rrn3	T	A	16: 13,616,484 (GRCm39)	D287E	possibly damaging	Het
Slc22a16	G	A	10: 40,449,741 (GRCm39)	R80Q	possibly damaging	Het
Slc4a4	A	T	5: 89,327,680 (GRCm39)	T706S	probably benign	Het
Srek1ip1	A	T	13: 104,970,757 (GRCm39)	R69S	possibly damaging	Het
St3gal5	T	A	6: 72,119,165 (GRCm39)	C119*	probably null	Het
T2	A	G	17: 8,609,784 (GRCm39)	M78V	probably null	Het
Taok1	A	T	11: 77,432,545 (GRCm39)	V756D	possibly damaging	Het
Tecta	C	T	9: 42,286,310 (GRCm39)	G782D	probably damaging	Het
Thbs2	G	A	17: 14,900,032 (GRCm39)	P615L	probably damaging	Het
Ttll11	T	A	2: 35,830,721 (GRCm39)	I217F	possibly damaging	Het
Vmn2r57	C	T	7: 41,049,677 (GRCm39)	V691M	probably benign	Het
Xkr4	T	C	1: 3,492,122 (GRCm39)	Y267C	probably damaging	Het
Zfp59	A	G	7: 27,552,971 (GRCm39)	D141G	probably benign	Het
Zfp760	A	G	17: 21,942,301 (GRCm39)	E492G	probably damaging	Het

Other mutations in Prag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Prag1	APN	8	36,567,085 (GRCm39)	missense	probably benign	0.01
IGL01132:Prag1	APN	8	36,613,511 (GRCm39)	missense	probably damaging	1.00
IGL01322:Prag1	APN	8	36,571,088 (GRCm39)	missense	probably benign	0.01
IGL01343:Prag1	APN	8	36,570,200 (GRCm39)	missense	possibly damaging	0.95
IGL01726:Prag1	APN	8	36,570,146 (GRCm39)	missense	probably damaging	1.00
IGL01739:Prag1	APN	8	36,569,834 (GRCm39)	missense	probably benign	0.00
IGL02420:Prag1	APN	8	36,614,580 (GRCm39)	utr 3 prime	probably benign
IGL02433:Prag1	APN	8	36,606,722 (GRCm39)	missense	probably damaging	1.00
IGL02627:Prag1	APN	8	36,606,593 (GRCm39)	missense	possibly damaging	0.93
IGL02797:Prag1	APN	8	36,606,655 (GRCm39)	missense	probably damaging	1.00
IGL03070:Prag1	APN	8	36,570,703 (GRCm39)	missense	probably benign	0.01
IGL03323:Prag1	APN	8	36,607,162 (GRCm39)	missense	probably damaging	1.00
FR4340:Prag1	UTSW	8	36,571,040 (GRCm39)	small insertion	probably benign
FR4548:Prag1	UTSW	8	36,571,039 (GRCm39)	small insertion	probably benign
FR4589:Prag1	UTSW	8	36,571,037 (GRCm39)	small insertion	probably benign
FR4976:Prag1	UTSW	8	36,571,037 (GRCm39)	small insertion	probably benign
R0325:Prag1	UTSW	8	36,570,958 (GRCm39)	missense	probably benign	0.00
R0486:Prag1	UTSW	8	36,613,787 (GRCm39)	missense	probably damaging	1.00
R0506:Prag1	UTSW	8	36,570,854 (GRCm39)	missense	possibly damaging	0.92
R0507:Prag1	UTSW	8	36,571,277 (GRCm39)	missense	probably damaging	1.00
R0595:Prag1	UTSW	8	36,614,156 (GRCm39)	missense	probably damaging	1.00
R0618:Prag1	UTSW	8	36,566,987 (GRCm39)	missense	probably damaging	1.00
R0618:Prag1	UTSW	8	36,566,987 (GRCm39)	missense	probably damaging	1.00
R0885:Prag1	UTSW	8	36,570,421 (GRCm39)	missense	probably benign	0.00
R1015:Prag1	UTSW	8	36,613,697 (GRCm39)	missense	probably damaging	1.00
R1168:Prag1	UTSW	8	36,613,799 (GRCm39)	missense	probably damaging	1.00
R1182:Prag1	UTSW	8	36,614,413 (GRCm39)	missense	possibly damaging	0.95
R1227:Prag1	UTSW	8	36,607,105 (GRCm39)	missense	probably damaging	1.00
R1282:Prag1	UTSW	8	36,567,068 (GRCm39)	missense	probably damaging	0.96
R1469:Prag1	UTSW	8	36,613,452 (GRCm39)	splice site	probably benign
R1656:Prag1	UTSW	8	36,571,500 (GRCm39)	missense	probably damaging	1.00
R1660:Prag1	UTSW	8	36,607,177 (GRCm39)	missense	possibly damaging	0.73
R1676:Prag1	UTSW	8	36,570,052 (GRCm39)	missense	probably damaging	0.96
R1820:Prag1	UTSW	8	36,570,958 (GRCm39)	missense	probably benign	0.00
R1970:Prag1	UTSW	8	36,596,314 (GRCm39)	splice site	probably null
R1974:Prag1	UTSW	8	36,570,081 (GRCm39)	missense	probably damaging	1.00
R4398:Prag1	UTSW	8	36,570,809 (GRCm39)	missense	probably damaging	1.00
R4429:Prag1	UTSW	8	36,613,796 (GRCm39)	missense	probably damaging	1.00
R4627:Prag1	UTSW	8	36,570,446 (GRCm39)	missense	probably damaging	1.00
R4980:Prag1	UTSW	8	36,606,740 (GRCm39)	missense	probably damaging	1.00
R5131:Prag1	UTSW	8	36,607,123 (GRCm39)	missense	probably damaging	1.00
R5215:Prag1	UTSW	8	36,567,043 (GRCm39)	missense	probably benign	0.06
R5346:Prag1	UTSW	8	36,570,839 (GRCm39)	missense	probably damaging	1.00
R5414:Prag1	UTSW	8	36,606,776 (GRCm39)	missense	probably benign	0.00
R5535:Prag1	UTSW	8	36,571,168 (GRCm39)	missense	probably benign
R5687:Prag1	UTSW	8	36,613,967 (GRCm39)	missense	probably benign	0.02
R5785:Prag1	UTSW	8	36,570,641 (GRCm39)	missense	probably benign	0.35
R5817:Prag1	UTSW	8	36,570,857 (GRCm39)	missense	probably damaging	1.00
R6002:Prag1	UTSW	8	36,571,337 (GRCm39)	missense	probably benign	0.31
R6127:Prag1	UTSW	8	36,614,555 (GRCm39)	missense	unknown
R6240:Prag1	UTSW	8	36,570,506 (GRCm39)	missense	probably benign	0.03
R6277:Prag1	UTSW	8	36,613,745 (GRCm39)	missense	probably damaging	1.00
R6326:Prag1	UTSW	8	36,569,860 (GRCm39)	missense	possibly damaging	0.79
R6741:Prag1	UTSW	8	36,614,434 (GRCm39)	missense	probably benign	0.41
R6925:Prag1	UTSW	8	36,571,048 (GRCm39)	missense	probably damaging	1.00
R7085:Prag1	UTSW	8	36,571,391 (GRCm39)	missense	possibly damaging	0.71
R7095:Prag1	UTSW	8	36,569,714 (GRCm39)	missense	probably benign
R7204:Prag1	UTSW	8	36,613,915 (GRCm39)	missense	probably benign	0.03
R7213:Prag1	UTSW	8	36,613,769 (GRCm39)	missense	probably damaging	0.99
R7567:Prag1	UTSW	8	36,569,760 (GRCm39)	missense	possibly damaging	0.68
R7577:Prag1	UTSW	8	36,614,096 (GRCm39)	missense	probably damaging	1.00
R7783:Prag1	UTSW	8	36,570,409 (GRCm39)	missense	possibly damaging	0.66
R8146:Prag1	UTSW	8	36,571,364 (GRCm39)	missense	probably damaging	1.00
R8152:Prag1	UTSW	8	36,567,079 (GRCm39)	missense	possibly damaging	0.53
R8157:Prag1	UTSW	8	36,614,393 (GRCm39)	missense	probably damaging	0.99
R8821:Prag1	UTSW	8	36,613,891 (GRCm39)	missense	probably benign
R8831:Prag1	UTSW	8	36,613,891 (GRCm39)	missense	probably benign
R8927:Prag1	UTSW	8	36,614,360 (GRCm39)	missense	probably damaging	1.00
R8928:Prag1	UTSW	8	36,614,360 (GRCm39)	missense	probably damaging	1.00
R8973:Prag1	UTSW	8	36,566,744 (GRCm39)	start gained	probably benign
R9516:Prag1	UTSW	8	36,607,208 (GRCm39)	missense	probably damaging	1.00
R9596:Prag1	UTSW	8	36,570,113 (GRCm39)	missense	probably damaging	1.00
R9598:Prag1	UTSW	8	36,571,069 (GRCm39)	missense	probably benign	0.20
Z1177:Prag1	UTSW	8	36,614,296 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGCTTAAACCGGAGTCTC -3'
(R):5'- ACAAAGTCGGAGGCAGTCTG -3'

Sequencing Primer
(F):5'- AGTCTCAGGGATGCAGTATTTCCTC -3'
(R):5'- ACACAGTCCTGCTCCTGG -3'

Posted On

2020-09-02