Mutagenetix > Incidental Mutation

Incidental Mutation 'R6002:Prag1'

478428

Institutional Source

Beutler Lab

Gene Symbol

Prag1

Ensembl Gene

ENSMUSG00000050271

Gene Name

PEAK1 related kinase activating pseudokinase 1

Synonyms

D8Ertd82e, NACK

MMRRC Submission

044181-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36561982-36614941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36571337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 640 (H640L)

Ref Sequence

ENSEMBL: ENSMUSP00000106118 (fasta)

Gene Model

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

AlphaFold

Q571I4

Predicted Effect

probably benign
Transcript: ENSMUST00000110492
AA Change: H640L

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: H640L

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: 99.8%
3x: 99.4%
10x: 96.6%
20x: 88.5%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	A	2: 68,492,768 (GRCm39)		probably null	Het
Adam28	A	G	14: 68,879,511 (GRCm39)	L179P	probably benign	Het
Amer2	G	T	14: 60,616,231 (GRCm39)	G142V	possibly damaging	Het
Ap2a1	A	G	7: 44,553,819 (GRCm39)		probably null	Het
Arhgap32	A	G	9: 32,168,275 (GRCm39)	T753A	probably benign	Het
Capsl	A	G	15: 9,461,874 (GRCm39)	D90G	probably damaging	Het
Cd96	A	T	16: 45,938,349 (GRCm39)	S39T	possibly damaging	Het
Cdx2	T	A	5: 147,240,044 (GRCm39)	T211S	probably damaging	Het
Chd9	A	G	8: 91,705,515 (GRCm39)	Y251C	probably damaging	Het
Chrna6	C	T	8: 27,896,774 (GRCm39)	V368I	probably benign	Het
Coro1a	G	T	7: 126,302,252 (GRCm39)	Q32K	probably benign	Het
Cps1	T	A	1: 67,211,914 (GRCm39)	V694E	possibly damaging	Het
Eif3h	A	G	15: 51,662,672 (GRCm39)	Y125H	probably benign	Het
Fbxw22	A	C	9: 109,210,750 (GRCm39)	Y420*	probably null	Het
Fgf21	T	C	7: 45,264,651 (GRCm39)	Y27C	probably benign	Het
Gm7356	A	G	17: 14,221,001 (GRCm39)	S343P	probably benign	Het
Hmcn2	A	G	2: 31,310,321 (GRCm39)	D3305G	probably damaging	Het
Ift70a1	T	C	2: 75,811,121 (GRCm39)	T321A	possibly damaging	Het
Kdm4c	T	A	4: 74,323,206 (GRCm39)	F1046Y	possibly damaging	Het
Klk1b27	T	A	7: 43,705,114 (GRCm39)	W94R	probably benign	Het
Nwd2	A	T	5: 63,962,143 (GRCm39)	M576L	probably benign	Het
Or13c7d	T	C	4: 43,770,063 (GRCm39)	H316R	probably benign	Het
Or4d2	A	T	11: 87,784,633 (GRCm39)	V39E	probably damaging	Het
Or5b122	T	C	19: 13,562,781 (GRCm39)		probably benign	Het
Or5p54	A	G	7: 107,554,376 (GRCm39)	H176R	probably damaging	Het
Pappa	T	A	4: 65,215,645 (GRCm39)	V1184D	probably damaging	Het
Pcyox1	T	A	6: 86,369,164 (GRCm39)	M152L	probably benign	Het
Pdha2	A	G	3: 140,917,457 (GRCm39)	V17A	probably benign	Het
Pi4k2b	A	T	5: 52,914,247 (GRCm39)	I328L	probably benign	Het
Ppp1r13l	T	C	7: 19,111,895 (GRCm39)	F814L	probably benign	Het
Prl5a1	T	C	13: 28,329,465 (GRCm39)	I48T	probably benign	Het
Rabgap1	A	G	2: 37,363,614 (GRCm39)	T132A	probably benign	Het
Sec31b	T	C	19: 44,524,203 (GRCm39)	I146V	probably benign	Het
Slc30a9	A	G	5: 67,499,460 (GRCm39)	Y306C	probably damaging	Het
Stat3	A	G	11: 100,794,569 (GRCm39)	S247P	probably benign	Het
Tbc1d1	C	A	5: 64,490,776 (GRCm39)	L747I	probably damaging	Het
Tbc1d24	A	T	17: 24,402,761 (GRCm39)	M1K	probably null	Het
Vezt	A	C	10: 93,836,336 (GRCm39)	V104G	probably damaging	Het
Zbtb41	A	G	1: 139,351,397 (GRCm39)	D170G	probably damaging	Het
Zswim2	C	A	2: 83,746,032 (GRCm39)	D469Y	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
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'- GAGTCCCTGCTAACCTAACGTC -3'
(R):5'- CACCTTGACTTTGGAGGTGG -3'

Sequencing Primer
(F):5'- ACTGCTGGTGACTCTGCCAAG -3'
(R):5'- CTTGACTTTGGAGGTGGGGGAG -3'

Posted On

2017-06-26