Mutagenetix > Incidental Mutation

Incidental Mutation 'R0506:Prag1'

47583

Institutional Source

Beutler Lab

Gene Symbol

Prag1

Ensembl Gene

ENSMUSG00000050271

Gene Name

PEAK1 related kinase activating pseudokinase 1

Synonyms

D8Ertd82e, NACK

MMRRC Submission

038701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0506 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36094828-36147787 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36103700 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 479 (V479A)

Ref Sequence

ENSEMBL: ENSMUSP00000106118 (fasta)

Gene Model

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

AlphaFold

Q571I4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110492
AA Change: V479A

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: V479A

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

Meta Mutation Damage Score

0.0620

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (100/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm5	T	A	7: 119,538,096	C378*	probably null	Het
Ago3	T	C	4: 126,417,252	D56G	possibly damaging	Het
Ahnak	G	T	19: 9,009,128	G2592V	probably damaging	Het
Aldh6a1	C	T	12: 84,433,526	G470D	probably damaging	Het
Ankub1	T	A	3: 57,690,375	N58I	probably damaging	Het
Apol7b	G	T	15: 77,425,528	T23K	probably benign	Het
Arap2	G	A	5: 62,606,131	P1557S	possibly damaging	Het
Arhgap24	T	C	5: 102,875,777	Y136H	probably damaging	Het
Atp1a1	A	G	3: 101,589,812	F393L	probably damaging	Het
Bcdin3d	A	T	15: 99,470,992	C109S	probably damaging	Het
Catsperd	A	G	17: 56,658,078	K475R	possibly damaging	Het
Cblb	A	G	16: 52,204,480	T913A	probably benign	Het
Cbx6	A	G	15: 79,828,203	L341P	probably benign	Het
Cd177	T	C	7: 24,758,356	Y159C	probably damaging	Het
Cdh7	A	G	1: 110,100,114	N530D	probably damaging	Het
Cdk8	T	C	5: 146,298,872	F270L	probably damaging	Het
Ces2c	A	T	8: 104,848,024	T38S	probably damaging	Het
Chst14	T	C	2: 118,927,721	L357P	probably damaging	Het
Clca3b	T	A	3: 144,822,866		probably benign	Het
Cluh	A	G	11: 74,664,894	S839G	probably benign	Het
Cnga4	T	A	7: 105,407,740	V350E	probably damaging	Het
Creb1	G	A	1: 64,570,267	G180R	probably damaging	Het
Csmd3	T	C	15: 48,457,511	E301G	probably benign	Het
Cyp4f18	A	T	8: 71,996,000	D268E	probably benign	Het
Dock5	A	G	14: 67,784,792		probably benign	Het
Dpy19l4	T	A	4: 11,289,715	H332L	probably benign	Het
Dync2h1	T	A	9: 7,113,153	H224L	probably benign	Het
Dzip1l	C	A	9: 99,663,081	Q585K	possibly damaging	Het
Erf	C	T	7: 25,244,376	G510D	probably damaging	Het
Fanci	T	C	7: 79,432,178	L623P	probably benign	Het
Fat1	T	C	8: 45,022,951	V1655A	probably damaging	Het
Fat4	T	C	3: 38,888,314	V452A	probably benign	Het
Gal3st4	C	T	5: 138,265,889	G283S	probably benign	Het
Gm5422	A	G	10: 31,250,322		noncoding transcript	Het
Gnal	C	T	18: 67,088,673	T49I	unknown	Het
Gng5	A	G	3: 146,503,348	N57S	probably damaging	Het
Herc1	A	G	9: 66,448,159	I2231V	probably damaging	Het
Hgfac	G	T	5: 35,044,240	G272W	probably damaging	Het
Hmcn1	T	A	1: 150,742,341	D1265V	possibly damaging	Het
Ifi207	T	A	1: 173,736,312	Q47L	possibly damaging	Het
Klhl40	G	A	9: 121,778,067	E98K	probably damaging	Het
Lepr	G	T	4: 101,773,010		probably benign	Het
Lyst	A	G	13: 13,638,015	H1004R	probably benign	Het
Map3k1	T	A	13: 111,755,764	R986*	probably null	Het
Mmp1b	C	A	9: 7,387,013	Q66H	possibly damaging	Het
Mpo	T	C	11: 87,803,504	S107P	probably benign	Het
Mroh9	T	C	1: 163,060,636	H290R	possibly damaging	Het
Myo7b	A	G	18: 31,964,386		probably null	Het
Myom1	T	C	17: 71,092,220		probably benign	Het
Nalcn	C	T	14: 123,596,614	V50I	possibly damaging	Het
Negr1	A	G	3: 157,160,748		probably benign	Het
Nlrc5	T	G	8: 94,493,125		probably benign	Het
Nyap2	G	A	1: 81,087,312	D14N	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr1490	T	A	19: 13,654,897	I151N	possibly damaging	Het
Olfr91	C	A	17: 37,093,311	G188W	probably damaging	Het
Parp14	A	T	16: 35,841,409	S1419T	possibly damaging	Het
Piezo2	A	G	18: 63,027,544	F2347S	probably damaging	Het
Pigf	A	G	17: 87,008,909	V147A	probably benign	Het
Pkhd1	A	T	1: 20,559,469	M637K	probably benign	Het
Plce1	T	C	19: 38,760,138	I1771T	probably benign	Het
Ppp6c	A	T	2: 39,206,648		probably benign	Het
Prss33	A	T	17: 23,835,105	D42E	probably benign	Het
Psmb10	A	G	8: 105,937,545	V64A	possibly damaging	Het
Psmd14	A	G	2: 61,800,063	T306A	probably benign	Het
Psmg1	C	T	16: 95,989,487		probably benign	Het
Rc3h2	A	T	2: 37,376,659		probably null	Het
Reln	C	T	5: 21,920,496	V2730I	probably damaging	Het
Sec24a	A	T	11: 51,743,795	H101Q	probably benign	Het
Selenoi	A	G	5: 30,266,956	N385S	probably benign	Het
Slc24a4	T	C	12: 102,131,623		probably null	Het
Slc4a10	G	A	2: 62,250,533	S338N	probably benign	Het
Slfn3	A	T	11: 83,213,160	T286S	probably damaging	Het
Snx29	A	G	16: 11,395,303	D111G	probably benign	Het
Sp8	T	C	12: 118,848,565	S52P	possibly damaging	Het
Srek1	G	T	13: 103,760,590	T81K	probably damaging	Het
Sry	C	G	Y: 2,662,864	Q265H	unknown	Het
Taf3	A	G	2: 9,940,993	V600A	probably benign	Het
Tatdn2	C	A	6: 113,702,589	D298E	probably benign	Het
Tmem253	A	T	14: 52,017,206		probably benign	Het
Tmem63a	T	A	1: 180,958,049		probably null	Het
Tmprss11b	T	C	5: 86,661,640	D331G	probably damaging	Het
Tor1aip1	T	A	1: 156,007,674	K143*	probably null	Het
Trappc8	A	T	18: 20,844,188	N841K	possibly damaging	Het
Trio	T	C	15: 27,854,963	Q711R	probably benign	Het
Trmt10b	C	A	4: 45,304,306	T114N	probably damaging	Het
Trpv2	C	A	11: 62,582,906	A129D	probably benign	Het
Ttll4	T	G	1: 74,688,618	D846E	probably benign	Het
Ugt2a3	A	G	5: 87,336,649	L172P	possibly damaging	Het
Usp19	T	A	9: 108,494,487	F355Y	probably damaging	Het
Vmn1r209	C	T	13: 22,805,944	G192D	probably damaging	Het
Vmn2r107	T	G	17: 20,357,759	D443E	probably benign	Het
Wee2	A	T	6: 40,463,253	E445V	probably benign	Het
Zer1	A	T	2: 30,101,807	I680N	probably damaging	Het
Zfhx4	T	C	3: 5,402,735	L2651P	probably damaging	Het
Zfp692	C	T	11: 58,309,055	Q157*	probably null	Het
Zfp964	T	A	8: 69,663,937	C396S	unknown	Het

Other mutations in Prag1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:Prag1	APN	8	36099931	missense	probably benign	0.01
IGL01132:Prag1	APN	8	36146357	missense	probably damaging	1.00
IGL01322:Prag1	APN	8	36103934	missense	probably benign	0.01
IGL01343:Prag1	APN	8	36103046	missense	possibly damaging	0.95
IGL01726:Prag1	APN	8	36102992	missense	probably damaging	1.00
IGL01739:Prag1	APN	8	36102680	missense	probably benign	0.00
IGL02420:Prag1	APN	8	36147426	utr 3 prime	probably benign
IGL02433:Prag1	APN	8	36139568	missense	probably damaging	1.00
IGL02627:Prag1	APN	8	36139439	missense	possibly damaging	0.93
IGL02797:Prag1	APN	8	36139501	missense	probably damaging	1.00
IGL03070:Prag1	APN	8	36103549	missense	probably benign	0.01
IGL03323:Prag1	APN	8	36140008	missense	probably damaging	1.00
FR4340:Prag1	UTSW	8	36103886	small insertion	probably benign
FR4548:Prag1	UTSW	8	36103885	small insertion	probably benign
FR4589:Prag1	UTSW	8	36103883	small insertion	probably benign
FR4976:Prag1	UTSW	8	36103883	small insertion	probably benign
R0325:Prag1	UTSW	8	36103804	missense	probably benign	0.00
R0486:Prag1	UTSW	8	36146633	missense	probably damaging	1.00
R0507:Prag1	UTSW	8	36104123	missense	probably damaging	1.00
R0595:Prag1	UTSW	8	36147002	missense	probably damaging	1.00
R0618:Prag1	UTSW	8	36099833	missense	probably damaging	1.00
R0618:Prag1	UTSW	8	36099833	missense	probably damaging	1.00
R0885:Prag1	UTSW	8	36103267	missense	probably benign	0.00
R1015:Prag1	UTSW	8	36146543	missense	probably damaging	1.00
R1168:Prag1	UTSW	8	36146645	missense	probably damaging	1.00
R1182:Prag1	UTSW	8	36147259	missense	possibly damaging	0.95
R1227:Prag1	UTSW	8	36139951	missense	probably damaging	1.00
R1282:Prag1	UTSW	8	36099914	missense	probably damaging	0.96
R1469:Prag1	UTSW	8	36146298	splice site	probably benign
R1656:Prag1	UTSW	8	36104346	missense	probably damaging	1.00
R1660:Prag1	UTSW	8	36140023	missense	possibly damaging	0.73
R1676:Prag1	UTSW	8	36102898	missense	probably damaging	0.96
R1820:Prag1	UTSW	8	36103804	missense	probably benign	0.00
R1970:Prag1	UTSW	8	36129160	splice site	probably null
R1974:Prag1	UTSW	8	36102927	missense	probably damaging	1.00
R4398:Prag1	UTSW	8	36103655	missense	probably damaging	1.00
R4429:Prag1	UTSW	8	36146642	missense	probably damaging	1.00
R4627:Prag1	UTSW	8	36103292	missense	probably damaging	1.00
R4980:Prag1	UTSW	8	36139586	missense	probably damaging	1.00
R5131:Prag1	UTSW	8	36139969	missense	probably damaging	1.00
R5215:Prag1	UTSW	8	36099889	missense	probably benign	0.06
R5346:Prag1	UTSW	8	36103685	missense	probably damaging	1.00
R5414:Prag1	UTSW	8	36139622	missense	probably benign	0.00
R5535:Prag1	UTSW	8	36104014	missense	probably benign
R5687:Prag1	UTSW	8	36146813	missense	probably benign	0.02
R5785:Prag1	UTSW	8	36103487	missense	probably benign	0.35
R5817:Prag1	UTSW	8	36103703	missense	probably damaging	1.00
R6002:Prag1	UTSW	8	36104183	missense	probably benign	0.31
R6127:Prag1	UTSW	8	36147401	missense	unknown
R6240:Prag1	UTSW	8	36103352	missense	probably benign	0.03
R6277:Prag1	UTSW	8	36146591	missense	probably damaging	1.00
R6326:Prag1	UTSW	8	36102706	missense	possibly damaging	0.79
R6741:Prag1	UTSW	8	36147280	missense	probably benign	0.41
R6925:Prag1	UTSW	8	36103894	missense	probably damaging	1.00
R7085:Prag1	UTSW	8	36104237	missense	possibly damaging	0.71
R7095:Prag1	UTSW	8	36102560	missense	probably benign
R7204:Prag1	UTSW	8	36146761	missense	probably benign	0.03
R7213:Prag1	UTSW	8	36146615	missense	probably damaging	0.99
R7567:Prag1	UTSW	8	36102606	missense	possibly damaging	0.68
R7577:Prag1	UTSW	8	36146942	missense	probably damaging	1.00
R7783:Prag1	UTSW	8	36103255	missense	possibly damaging	0.66
R8146:Prag1	UTSW	8	36104210	missense	probably damaging	1.00
R8152:Prag1	UTSW	8	36099925	missense	possibly damaging	0.53
R8157:Prag1	UTSW	8	36147239	missense	probably damaging	0.99
R8332:Prag1	UTSW	8	36146303	missense	probably damaging	1.00
R8821:Prag1	UTSW	8	36146737	missense	probably benign
R8831:Prag1	UTSW	8	36146737	missense	probably benign
R8927:Prag1	UTSW	8	36147206	missense	probably damaging	1.00
R8928:Prag1	UTSW	8	36147206	missense	probably damaging	1.00
R8973:Prag1	UTSW	8	36099590	start gained	probably benign
R9516:Prag1	UTSW	8	36140054	missense	probably damaging	1.00
R9596:Prag1	UTSW	8	36102959	missense	probably damaging	1.00
R9598:Prag1	UTSW	8	36103915	missense	probably benign	0.20
Z1177:Prag1	UTSW	8	36147142	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCACTTTCTCACCTCTGGCAAATG -3'
(R):5'- TAGACAAAAGTTGGGGTCCGACGC -3'

Sequencing Primer
(F):5'- CACCTCTGGCAAATGTGTGG -3'
(R):5'- CGTCGCTGTGGTCAGTC -3'

Posted On

2013-06-12