Mutagenetix > Incidental Mutations

Incidental Mutation 'R7095:Prag1'

550426

Institutional Source

Beutler Lab

Gene Symbol

Prag1

Ensembl Gene

ENSMUSG00000050271

Gene Name

PEAK1 related kinase activating pseudokinase 1

Synonyms

D8Ertd82e, NACK

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7095 (G1)

Quality Score

172.009

Status

Validated

Chromosome

Chromosomal Location

36094828-36147787 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36102560 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 99 (N99S)

Ref Sequence

ENSEMBL: ENSMUSP00000106118 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110492
AA Change: N99S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: N99S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (71/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	G	17: 35,957,511	V809A	possibly damaging	Het
Adam32	T	A	8: 24,914,070	D242V	probably damaging	Het
Adamts9	T	A	6: 92,887,691	H763L	probably benign	Het
Aff1	A	G	5: 103,843,085	D967G	probably damaging	Het
Anpep	A	T	7: 79,842,202	L17Q	possibly damaging	Het
Appbp2	G	T	11: 85,234,727	S28*	probably null	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
Bod1l	A	G	5: 41,795,068		probably null	Het
Capn5	G	A	7: 98,125,831	T534I	probably benign	Het
Cbx2	T	C	11: 119,028,059	I150T	probably damaging	Het
Cdh11	A	G	8: 102,658,267	V392A	probably damaging	Het
Cenpf	A	T	1: 189,659,176	C803S	probably benign	Het
Cep135	A	G	5: 76,594,058	T114A	probably benign	Het
Chd2	A	T	7: 73,471,881	D994E	probably damaging	Het
Chtf18	C	A	17: 25,722,678	W584C	probably damaging	Het
Dclk2	C	T	3: 86,793,259	R638H	probably damaging	Het
Dgkh	C	A	14: 78,627,784	M172I	probably benign	Het
Dpy19l2	T	G	9: 24,695,814	H117P	probably benign	Het
Dzip3	A	T	16: 48,927,790	N908K	probably benign	Het
Erc2	A	T	14: 27,898,593	N393Y	probably damaging	Het
Fam118b	T	C	9: 35,221,490	E291G	possibly damaging	Het
Fam193a	C	T	5: 34,458,034	L816F	probably damaging	Het
Fat2	A	G	11: 55,311,331	Y306H	probably damaging	Het
Fndc10	C	T	4: 155,695,117	T206I	probably damaging	Het
Fzd1	GGGACTCCTCCACCTCCCTGGA	GGGA	5: 4,755,824		probably benign	Het
Gsk3a	A	T	7: 25,233,854	Y177N	probably damaging	Het
Haus5	T	C	7: 30,659,572	T222A	probably benign	Het
Igfbp7	G	T	5: 77,401,490	Q189K	probably benign	Het
Inppl1	A	T	7: 101,827,456	Y771*	probably null	Het
Iqck	A	T	7: 118,915,591	Y234F	probably damaging	Het
Irs1	G	T	1: 82,290,098	C132*	probably null	Het
Jmjd1c	T	G	10: 67,219,632	V277G	probably benign	Het
Klhl22	G	A	16: 17,792,750	V622M	probably damaging	Het
Kri1	C	T	9: 21,279,432	E378K		Het
Lilra6	C	T	7: 3,913,197	G221D	probably damaging	Het
Marc1	A	G	1: 184,795,240	L297P	probably damaging	Het
Mecom	T	C	3: 29,980,954	E191G	probably damaging	Het
Mgrn1	T	A	16: 4,927,664		probably null	Het
Mical1	C	T	10: 41,479,210		probably null	Het
Mlxipl	T	C	5: 135,134,030	Y711H	possibly damaging	Het
Mpl	T	A	4: 118,444,063	H535L		Het
Mtfr2	C	A	10: 20,352,920	H71N	probably benign	Het
Mtrf1	GCCTTC	GC	14: 79,423,491		probably null	Het
Myh15	A	G	16: 49,171,909	Q1582R	possibly damaging	Het
Neb	C	T	2: 52,177,623	E6062K	possibly damaging	Het
Nlrp4c	G	A	7: 6,060,793	A67T	probably damaging	Het
Noc3l	T	A	19: 38,812,345	H231L	probably benign	Het
Odf1	T	C	15: 38,219,559	Y44H	possibly damaging	Het
Olfr1052	C	T	2: 86,298,677	P287L	probably benign	Het
Olfr589	G	A	7: 103,155,330	T139I	probably damaging	Het
Olfr591	C	T	7: 103,173,046	R197H	probably benign	Het
Otol1	G	T	3: 70,018,694	E67D	probably benign	Het
Otud7b	A	G	3: 96,155,237	S598G	probably benign	Het
Ppwd1	T	A	13: 104,205,626	T607S	probably benign	Het
Ralgds	C	A	2: 28,549,308	Q737K	possibly damaging	Het
Scyl2	T	C	10: 89,669,687	H98R	probably damaging	Het
Secisbp2	A	C	13: 51,677,254	Q575H	probably benign	Het
Slc9a5	A	T	8: 105,357,636	H497L	probably benign	Het
Sufu	T	A	19: 46,475,588	V414E	probably damaging	Het
Tbc1d22b	A	T	17: 29,599,869	E399V	probably damaging	Het
Tcp10c	G	A	17: 13,355,934	V59I	probably benign	Het
Tdpoz3	T	C	3: 93,827,061	S348P	probably benign	Het
Tmem219	A	T	7: 126,891,756	F176L	probably damaging	Het
Trav6-2	A	G	14: 52,667,834	D104G	probably damaging	Het
Uba7	A	G	9: 107,983,339	K927R	probably benign	Het
Vps54	T	G	11: 21,271,720	D158E	probably benign	Het
Xpnpep1	C	T	19: 53,011,765		probably null	Het
Xpo7	G	A	14: 70,704,706	R73W	probably damaging	Het
Zfp532	A	T	18: 65,682,898	M781L	probably benign	Het
Zfp930	T	A	8: 69,228,541	I295K	probably benign	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
R0506:Prag1	UTSW	8	36103700	missense	possibly damaging	0.92
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
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
Z1177:Prag1	UTSW	8	36147142	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTGTGTCCAGTCGTGAAG -3'
(R):5'- CTGGTTGAAAGGCAGTGTTCC -3'

Sequencing Primer
(F):5'- CCAGTCGTGAAGGTGGGATG -3'
(R):5'- TGAAAGGCAGTGTTCCTATCCACG -3'

Posted On

2019-05-15