Mutagenetix > Incidental Mutation

Incidental Mutation 'R5346:Prag1'

422613

Institutional Source

Beutler Lab

Gene Symbol

Prag1

Ensembl Gene

ENSMUSG00000050271

Gene Name

PEAK1 related kinase activating pseudokinase 1

Synonyms

D8Ertd82e, NACK

MMRRC Submission

042925-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5346 (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 36570839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 474 (D474G)

Ref Sequence

ENSEMBL: ENSMUSP00000106118 (fasta)

Gene Model

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

AlphaFold

Q571I4

Predicted Effect

probably damaging
Transcript: ENSMUST00000110492
AA Change: D474G

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

SMART Domains

Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: D474G

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: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	A	5: 62,872,089 (GRCm39)	Y513F	probably benign	Het
Cluh	C	A	11: 74,556,044 (GRCm39)	H832N	probably damaging	Het
Cntfr	G	T	4: 41,675,042 (GRCm39)	Y21*	probably null	Het
Cog2	T	C	8: 125,273,370 (GRCm39)	S570P	possibly damaging	Het
Cops7b	A	G	1: 86,510,790 (GRCm39)		probably benign	Het
Cpox	G	A	16: 58,495,649 (GRCm39)	G322D	probably damaging	Het
Dop1a	A	G	9: 86,402,835 (GRCm39)	D1345G	probably damaging	Het
Dqx1	G	A	6: 83,036,700 (GRCm39)	D235N	possibly damaging	Het
Dscaml1	A	G	9: 45,361,857 (GRCm39)	I206V	possibly damaging	Het
Ednra	T	C	8: 78,401,597 (GRCm39)	Y231C	probably damaging	Het
Ehhadh	T	C	16: 21,581,540 (GRCm39)	Y484C	probably damaging	Het
Fmnl3	A	T	15: 99,229,871 (GRCm39)	V150D	probably damaging	Het
Gabrb2	T	A	11: 42,312,216 (GRCm39)	S14T	probably benign	Het
Gm10608	GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,792 (GRCm39)		probably null	Het
Gpatch2	T	C	1: 186,958,065 (GRCm39)	L140P	probably benign	Het
Gsdmc	A	G	15: 63,648,735 (GRCm39)	Y400H	probably damaging	Het
Heatr5b	A	G	17: 79,135,415 (GRCm39)	S239P	probably benign	Het
Hmcn1	A	T	1: 150,498,995 (GRCm39)	I4004N	probably damaging	Het
Insc	T	A	7: 114,403,776 (GRCm39)	N63K	possibly damaging	Het
Mmp28	T	C	11: 83,333,489 (GRCm39)	H484R	probably benign	Het
Nptn	C	A	9: 58,531,070 (GRCm39)	Y64*	probably null	Het
Nsd2	T	A	5: 34,036,480 (GRCm39)	S655T	possibly damaging	Het
Nub1	A	G	5: 24,902,414 (GRCm39)	E253G	probably damaging	Het
Or3a1d	T	C	11: 74,237,496 (GRCm39)	R305G	probably benign	Het
Pde3b	T	A	7: 114,105,425 (GRCm39)	H452Q	probably benign	Het
Pkhd1	T	C	1: 20,462,321 (GRCm39)	M2078V	probably benign	Het
Pkhd1	T	C	1: 20,593,658 (GRCm39)	D1485G	probably damaging	Het
Pkhd1l1	A	C	15: 44,404,363 (GRCm39)	T2331P	probably damaging	Het
Plk5	G	A	10: 80,198,942 (GRCm39)	G433E	probably damaging	Het
Pnliprp2	T	A	19: 58,748,232 (GRCm39)	D4E	probably benign	Het
Psmc1	A	G	12: 100,086,359 (GRCm39)	N332S	probably damaging	Het
Rad9a	G	C	19: 4,251,517 (GRCm39)		probably null	Het
Slf1	A	G	13: 77,240,490 (GRCm39)	V396A	probably benign	Het
Stat6	G	A	10: 127,488,182 (GRCm39)	R312K	probably benign	Het
Tgm1	A	T	14: 55,948,629 (GRCm39)	V174E	probably damaging	Het
Tnc	A	G	4: 63,926,892 (GRCm39)	V878A	probably benign	Het
Ube4b	A	T	4: 149,421,881 (GRCm39)	H969Q	possibly damaging	Het
Ubr4	T	C	4: 139,155,802 (GRCm39)	I2209T	probably damaging	Het
Ulk2	A	C	11: 61,725,740 (GRCm39)	L112R	probably damaging	Het
Wdr35	T	C	12: 9,028,684 (GRCm39)	Y101H	probably benign	Het
Xpo7	A	G	14: 70,921,117 (GRCm39)	L617P	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
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'- CATAGCCAGGGCCAAGTATG -3'
(R):5'- ACAAAAGTTGGGGTCCGAC -3'

Sequencing Primer
(F):5'- GATTCAGAAGACACCCCCT -3'
(R):5'- CGTCGCTGTGGTCAGTCAG -3'

Posted On

2016-08-04