Mutagenetix > Incidental Mutation

Incidental Mutation 'R0595:Prag1'

55067

Institutional Source

Beutler Lab

Gene Symbol

Prag1

Ensembl Gene

ENSMUSG00000050271

Gene Name

PEAK1 related kinase activating pseudokinase 1

Synonyms

D8Ertd82e, NACK

MMRRC Submission

038785-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0595 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

36561982-36614941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36614156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1236 (N1236S)

Ref Sequence

ENSEMBL: ENSMUSP00000106118 (fasta)

Gene Model

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

AlphaFold

Q571I4

Predicted Effect

probably damaging
Transcript: ENSMUST00000110492
AA Change: N1236S

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

SMART Domains

Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: N1236S

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

Meta Mutation Damage Score

0.2995

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.5%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,790,417 (GRCm39)	D1093E	probably damaging	Het
Aldh2	G	T	5: 121,711,563 (GRCm39)	A276D	probably damaging	Het
Aldh2	C	T	5: 121,711,564 (GRCm39)	A276T	probably damaging	Het
Aldh7a1	C	T	18: 56,679,965 (GRCm39)		probably benign	Het
Ano1	C	T	7: 144,143,890 (GRCm39)	R964H	possibly damaging	Het
Apob	G	A	12: 8,058,369 (GRCm39)	V2251I	probably benign	Het
Atp6v1e1	A	G	6: 120,778,091 (GRCm39)	V148A	probably benign	Het
Bbs9	T	A	9: 22,408,111 (GRCm39)	H73Q	probably benign	Het
Brca1	A	G	11: 101,415,713 (GRCm39)	V807A	probably benign	Het
Cacna1b	C	T	2: 24,540,001 (GRCm39)		probably benign	Het
Cadps2	A	T	6: 23,321,703 (GRCm39)		probably null	Het
Cep152	T	C	2: 125,436,983 (GRCm39)	Q519R	probably damaging	Het
Cep295	A	C	9: 15,243,487 (GRCm39)	Y1608*	probably null	Het
Cfap54	T	C	10: 92,720,598 (GRCm39)	I2619V	unknown	Het
Dnajb9	A	G	12: 44,255,067 (GRCm39)	V7A	probably benign	Het
Ep400	T	C	5: 110,851,408 (GRCm39)	K1358R	unknown	Het
Fbxw7	C	A	3: 84,884,674 (GRCm39)		probably null	Het
Fsip2	T	C	2: 82,777,296 (GRCm39)	Y108H	probably damaging	Het
Ggt6	T	A	11: 72,328,493 (GRCm39)	L331Q	probably damaging	Het
Ifitm1	T	A	7: 140,548,242 (GRCm39)	I25N	possibly damaging	Het
Krt75	C	T	15: 101,476,789 (GRCm39)	E367K	probably damaging	Het
Lifr	A	G	15: 7,206,950 (GRCm39)	Y487C	probably damaging	Het
Map3k6	G	T	4: 132,968,574 (GRCm39)	G59W	probably damaging	Het
Mme	A	G	3: 63,235,602 (GRCm39)	T129A	probably benign	Het
Mmp10	G	A	9: 7,508,199 (GRCm39)	E442K	probably benign	Het
Myh13	T	C	11: 67,235,672 (GRCm39)	S646P	probably benign	Het
Nbea	A	T	3: 55,535,917 (GRCm39)	I2889N	probably benign	Het
Nlrp4d	T	A	7: 10,114,972 (GRCm39)	K581N	probably benign	Het
Nr3c2	C	T	8: 77,636,233 (GRCm39)	P445S	possibly damaging	Het
Or5p63	A	T	7: 107,810,868 (GRCm39)	N289K	probably damaging	Het
Pck1	T	A	2: 172,998,822 (GRCm39)	V360E	probably damaging	Het
Plekha7	T	C	7: 115,744,203 (GRCm39)	D766G	probably damaging	Het
Prkdc	A	C	16: 15,625,952 (GRCm39)	Q3326P	probably damaging	Het
Prrc2b	T	C	2: 32,073,189 (GRCm39)	M57T	probably damaging	Het
Rb1	A	T	14: 73,511,120 (GRCm39)	F330I	probably damaging	Het
Rufy4	A	G	1: 74,180,089 (GRCm39)	E448G	possibly damaging	Het
Scn10a	T	A	9: 119,495,129 (GRCm39)	M371L	probably benign	Het
Sgta	T	C	10: 80,884,742 (GRCm39)	D189G	probably damaging	Het
Spata31d1b	A	G	13: 59,864,091 (GRCm39)	H413R	probably benign	Het
Stau2	T	C	1: 16,510,674 (GRCm39)	T95A	probably damaging	Het
Supt4a	C	T	11: 87,633,982 (GRCm39)		probably null	Het
Tanc2	A	G	11: 105,605,003 (GRCm39)		probably null	Het
Tap2	T	A	17: 34,431,328 (GRCm39)	V422D	probably damaging	Het
Tas2r138	A	G	6: 40,589,799 (GRCm39)	L149P	probably damaging	Het
Tex15	T	C	8: 34,062,645 (GRCm39)	S692P	probably damaging	Het
Tgm2	C	T	2: 157,984,962 (GRCm39)	R48H	probably damaging	Het
Ticrr	T	A	7: 79,345,311 (GRCm39)	F1725L	possibly damaging	Het
Tnpo2	T	A	8: 85,778,670 (GRCm39)	C672*	probably null	Het
Xkr9	A	G	1: 13,771,008 (GRCm39)	I175V	probably benign	Het
Zfp428	T	A	7: 24,214,803 (GRCm39)	S140T	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
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
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'- TCATCATCAGCAACTTCCTGAAGGC -3'
(R):5'- GTGCAGAGTGTTACACAGTACCTCC -3'

Sequencing Primer
(F):5'- ACTTCCTGAAGGCCAAGC -3'
(R):5'- ACAGTACCTCCTCTGACGTG -3'

Posted On

2013-07-11