Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02627:Prag1'

301130

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prag1

Ensembl Gene

ENSMUSG00000050271

Gene Name

PEAK1 related kinase activating pseudokinase 1

Synonyms

D8Ertd82e, NACK

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02627

Quality Score

Status

Chromosome

Chromosomal Location

36094828-36147787 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 36139439 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 778 (D778G)

Ref Sequence

ENSEMBL: ENSMUSP00000106118 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110492
AA Change: D778G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: D778G

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

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001O22Rik	T	A	2: 30,795,765	K353M	probably damaging	Het
2610301B20Rik	G	A	4: 10,898,039	C207Y	probably damaging	Het
Arhgap32	T	C	9: 32,246,006	Y100H	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Ckap5	A	T	2: 91,576,021	N752I	probably damaging	Het
Dgkz	T	A	2: 91,938,710		probably benign	Het
Egfr	T	A	11: 16,869,346	V292E	probably damaging	Het
Gnb3	T	C	6: 124,834,715	T329A	probably damaging	Het
Igkv3-2	A	T	6: 70,698,826	T40S	probably damaging	Het
Kcnq2	T	C	2: 181,082,327		probably benign	Het
Mbip	T	C	12: 56,335,805	Q292R	probably benign	Het
Mgat5b	T	C	11: 116,983,616	Y625H	probably damaging	Het
Ms4a4d	A	T	19: 11,548,623	E40D	probably damaging	Het
Naip1	T	C	13: 100,425,648	E1003G	possibly damaging	Het
Ncf2	G	A	1: 152,811,008		probably benign	Het
Nfkbiz	A	G	16: 55,816,351	V529A	probably damaging	Het
Osr2	A	G	15: 35,300,454	N52S	possibly damaging	Het
Rsl1d1	G	T	16: 11,194,551	A337E	possibly damaging	Het
Sall3	A	T	18: 80,972,361	L784Q	possibly damaging	Het
Spen	A	G	4: 141,473,015	I2744T	probably damaging	Het
Tfip11	A	C	5: 112,329,813	S145R	possibly damaging	Het
Tonsl	T	C	15: 76,634,095	D559G	probably damaging	Het
Trmt5	A	T	12: 73,281,455	S325T	probably damaging	Het
Ubr1	A	T	2: 120,940,991	V472D	probably damaging	Het
Vmn1r30	T	A	6: 58,435,761	T29S	probably benign	Het
Vps29	T	C	5: 122,362,845	S158P	probably benign	Het
Wdr82	T	C	9: 106,176,687	V79A	possibly damaging	Het
Wfdc16	T	A	2: 164,638,463	E37D	possibly damaging	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
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
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
Z1177:Prag1	UTSW	8	36147142	missense	probably damaging	1.00

Posted On

2015-04-16