Mutagenetix > Incidental Mutation

Incidental Mutation 'R5785:Prag1'

447962

Institutional Source

Beutler Lab

Gene Symbol

Prag1

Ensembl Gene

ENSMUSG00000050271

Gene Name

PEAK1 related kinase activating pseudokinase 1

Synonyms

D8Ertd82e, NACK

MMRRC Submission

043206-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5785 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36561982-36614941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36570641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 408 (E408G)

Ref Sequence

ENSEMBL: ENSMUSP00000106118 (fasta)

Gene Model

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

AlphaFold

Q571I4

Predicted Effect

probably benign
Transcript: ENSMUST00000110492
AA Change: E408G

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: E408G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150295

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	T	9: 99,502,725 (GRCm39)	N295I	probably damaging	Het
Abcg3	G	A	5: 105,116,036 (GRCm39)	A266V	probably damaging	Het
Apbb1	C	A	7: 105,216,922 (GRCm39)	D254Y	probably damaging	Het
Arhgap39	T	C	15: 76,621,618 (GRCm39)	M328V	probably benign	Het
Bub1b	T	A	2: 118,440,325 (GRCm39)	V143D	probably damaging	Het
Celsr3	A	G	9: 108,704,996 (GRCm39)	D493G	probably damaging	Het
Cers4	T	A	8: 4,566,992 (GRCm39)		probably null	Het
Clec4d	A	G	6: 123,251,729 (GRCm39)	R204G	probably benign	Het
Cngb1	C	A	8: 95,980,823 (GRCm39)	R910L	possibly damaging	Het
Coro2a	A	T	4: 46,564,691 (GRCm39)	N18K	probably benign	Het
Cwf19l1	A	G	19: 44,110,380 (GRCm39)	F290S	probably damaging	Het
Esp18	C	T	17: 39,720,839 (GRCm39)	T28I	probably damaging	Het
Hdac10	A	T	15: 89,011,148 (GRCm39)	F205Y	probably benign	Het
Hhip	T	A	8: 80,724,821 (GRCm39)	H317L	possibly damaging	Het
Il36b	G	A	2: 24,044,661 (GRCm39)	M20I	probably benign	Het
Ilf3	T	A	9: 21,306,168 (GRCm39)	N276K	probably damaging	Het
Jchain	T	C	5: 88,670,376 (GRCm39)	N81S	probably benign	Het
Mei4	A	G	9: 81,907,600 (GRCm39)	Y211C	probably damaging	Het
Mx2	A	T	16: 97,339,904 (GRCm39)	E20V	possibly damaging	Het
Ndufa10	A	G	1: 92,388,096 (GRCm39)		probably null	Het
Nodal	A	G	10: 61,259,456 (GRCm39)	T298A	probably damaging	Het
Nvl	T	C	1: 180,966,863 (GRCm39)	Y47C	probably damaging	Het
Onecut1	C	T	9: 74,770,674 (GRCm39)	R366C	probably damaging	Het
Or9q1	T	C	19: 13,804,983 (GRCm39)	Y259C	probably damaging	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Ppp5c	A	G	7: 16,761,616 (GRCm39)		probably null	Het
Ptpn21	T	C	12: 98,648,809 (GRCm39)	N949S	probably damaging	Het
Scn7a	A	C	2: 66,527,912 (GRCm39)	N859K	possibly damaging	Het
Smarca4	T	C	9: 21,597,322 (GRCm39)	I1362T	probably damaging	Het
Syt12	T	C	19: 4,501,022 (GRCm39)	R343G	possibly damaging	Het
Topbp1	T	C	9: 103,200,727 (GRCm39)	S587P	probably benign	Het
Trim80	C	T	11: 115,337,301 (GRCm39)	Q388*	probably null	Het
Tsc2	T	C	17: 24,818,861 (GRCm39)		probably null	Het
Vmn2r130	T	A	17: 23,280,461 (GRCm39)	S41T	probably benign	Het
Vmn2r3	T	A	3: 64,166,444 (GRCm39)	T896S	possibly damaging	Het
Xirp2	A	G	2: 67,340,006 (GRCm39)	E749G	probably damaging	Het
Zbtb24	G	A	10: 41,327,849 (GRCm39)	G245E	probably benign	Het
Zfp507	A	G	7: 35,487,167 (GRCm39)	V767A	probably benign	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
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
R8332:Prag1	UTSW	8	36,613,457 (GRCm39)	missense	probably damaging	1.00
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'- AGAACGACTACTGCTCTCTTGTG -3'
(R):5'- CAGGGCTGCTCAGATAAATAGTC -3'

Sequencing Primer
(F):5'- GACTACTGCTCTCTTGTGAAGGAAC -3'
(R):5'- GCTCAGATAAATAGTCCTGTGGTCC -3'

Posted On

2016-12-15