Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01717:Pappa2'

104990

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pappa2

Ensembl Gene

ENSMUSG00000073530

Gene Name

pappalysin 2

Synonyms

pregnancy-associated plasma preproprotein-A2, placenta-specific 3, pregnancy-associated plasma protein-E, PAPP-A2, PLAC3, Pappe

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01717

Quality Score

Status

Chromosome

Chromosomal Location

158711727-158980490 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 158857132 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159861]

Predicted Effect

probably null
Transcript: ENSMUST00000159861

SMART Domains

Protein: ENSMUSP00000124022
Gene: ENSMUSG00000073530

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Laminin_G_3	271	440	1.2e-25	PFAM
NL	572	614	2.81e-5	SMART
Pfam:Peptidase_M43	669	832	1.5e-12	PFAM
Blast:FN3	844	1103	1e-169	BLAST
low complexity region	1130	1139	N/A	INTRINSIC
low complexity region	1361	1370	N/A	INTRINSIC
CCP	1394	1457	4.97e0	SMART
CCP	1462	1519	4.81e-1	SMART
CCP	1523	1588	2.58e-4	SMART
CCP	1593	1644	1.13e0	SMART
NL	1720	1757	2.66e-6	SMART

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 a member of the pappalysin family of metzincin metalloproteinases. The encoded protein cleaves insulin-like growth factor-binding protein 5 and is thought to be a local regulator of insulin-like growth factor (IGF) bioavailability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile but display postnatal growth retardation that is more pronounced in females compared to males. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,034,736	S4112G	probably benign	Het
Aif1	A	T	17: 35,171,555	M73K	probably damaging	Het
Alk	T	C	17: 72,603,382	I110V	probably benign	Het
Aoah	T	C	13: 20,999,977	S404P	probably damaging	Het
Bhlhe41	A	G	6: 145,863,037	S350P	possibly damaging	Het
Capn12	A	G	7: 28,889,105	D540G	probably benign	Het
Chd6	A	G	2: 160,965,259	Y2012H	possibly damaging	Het
Col1a1	A	G	11: 94,950,777	T1284A	unknown	Het
Col24a1	T	C	3: 145,524,263		probably benign	Het
Col4a5	T	A	X: 141,639,238	V1070D	unknown	Het
Col6a5	T	C	9: 105,940,273	T280A	unknown	Het
Dicer1	A	T	12: 104,702,787	L1212*	probably null	Het
Gigyf1	T	A	5: 137,525,691	V1041E	probably damaging	Het
Gm4978	C	T	9: 69,450,873		probably benign	Het
Gnai1	A	G	5: 18,291,461		probably null	Het
Golgb1	C	T	16: 36,915,502	R1704*	probably null	Het
Incenp	A	G	19: 9,893,265		probably benign	Het
Lrrc39	A	T	3: 116,579,497		probably benign	Het
Man2a2	T	C	7: 80,367,365	K319E	probably damaging	Het
Neb	T	C	2: 52,189,867	D83G	probably damaging	Het
Osbpl6	T	C	2: 76,588,594	I732T	probably damaging	Het
Pacs1	T	A	19: 5,167,972	K130N	probably damaging	Het
Pole2	T	C	12: 69,213,849	M186V	probably damaging	Het
Rwdd4a	T	C	8: 47,544,105		probably benign	Het
Sel1l3	A	G	5: 53,200,168	Y161H	probably damaging	Het
Sf3a2	C	T	10: 80,804,692	Q446*	probably null	Het
Slc26a3	T	C	12: 31,463,477	I466T	probably benign	Het
Slc29a4	A	T	5: 142,718,746	I348F	probably damaging	Het
Tbl1xr1	A	G	3: 22,193,171		probably benign	Het
Tlr5	A	T	1: 182,975,398	I756F	probably damaging	Het
Ttn	T	A	2: 76,730,402	L29218F	probably damaging	Het
Ttn	A	T	2: 76,730,404	L29218I	probably damaging	Het

Other mutations in Pappa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Pappa2	APN	1	158857148	missense	probably damaging	1.00
IGL01394:Pappa2	APN	1	158765104	splice site	probably benign
IGL01570:Pappa2	APN	1	158814540	nonsense	probably null
IGL01618:Pappa2	APN	1	158857378	missense	probably damaging	1.00
IGL01804:Pappa2	APN	1	158936519	missense	probably benign
IGL01904:Pappa2	APN	1	158783941	missense	probably damaging	0.99
IGL02116:Pappa2	APN	1	158845125	missense	probably benign	0.01
IGL02174:Pappa2	APN	1	158761618	missense	probably damaging	1.00
IGL02302:Pappa2	APN	1	158715001	missense	probably benign	0.38
IGL02422:Pappa2	APN	1	158936933	missense	probably damaging	1.00
IGL02572:Pappa2	APN	1	158851216	missense	probably benign
IGL02659:Pappa2	APN	1	158936794	missense	probably damaging	0.97
IGL02887:Pappa2	APN	1	158782259	missense	probably damaging	1.00
IGL02981:Pappa2	APN	1	158851144	missense	probably benign	0.00
IGL03128:Pappa2	APN	1	158936484	missense	probably benign	0.16
IGL03142:Pappa2	APN	1	158854931	missense	probably damaging	1.00
IGL03270:Pappa2	APN	1	158765067	missense	possibly damaging	0.78
Gulliver	UTSW	1	158857136	missense	probably null	1.00
Lilliputian	UTSW	1	158716990	missense	probably damaging	1.00
Lilliputian2	UTSW	1	158834918	nonsense	probably null
lilliputian3	UTSW	1	158782403	splice site	probably null
Pitzel	UTSW	1	158956645	missense	probably damaging	1.00
R0106:Pappa2	UTSW	1	158714977	missense	probably damaging	1.00
R0106:Pappa2	UTSW	1	158714977	missense	probably damaging	1.00
R0172:Pappa2	UTSW	1	158854849	critical splice donor site	probably null
R0194:Pappa2	UTSW	1	158765101	splice site	probably benign
R0418:Pappa2	UTSW	1	158716990	missense	probably damaging	1.00
R0421:Pappa2	UTSW	1	158848080	missense	probably damaging	1.00
R0441:Pappa2	UTSW	1	158763058	unclassified	probably benign
R0602:Pappa2	UTSW	1	158763055	unclassified	probably benign
R0630:Pappa2	UTSW	1	158832773	missense	probably benign
R0760:Pappa2	UTSW	1	158716961	critical splice donor site	probably null
R1146:Pappa2	UTSW	1	158854982	missense	probably damaging	1.00
R1146:Pappa2	UTSW	1	158854982	missense	probably damaging	1.00
R1243:Pappa2	UTSW	1	158845100	missense	probably damaging	1.00
R1413:Pappa2	UTSW	1	158936554	missense	probably benign	0.00
R1502:Pappa2	UTSW	1	158957288	missense	probably damaging	1.00
R1599:Pappa2	UTSW	1	158857172	missense	probably damaging	1.00
R1689:Pappa2	UTSW	1	158957398	missense	probably damaging	1.00
R1750:Pappa2	UTSW	1	158763150	nonsense	probably null
R1772:Pappa2	UTSW	1	158814368	missense	possibly damaging	0.92
R1832:Pappa2	UTSW	1	158857316	missense	probably damaging	1.00
R1905:Pappa2	UTSW	1	158803503	splice site	probably null
R1914:Pappa2	UTSW	1	158750563	missense	probably damaging	0.97
R2013:Pappa2	UTSW	1	158834928	missense	probably damaging	1.00
R2037:Pappa2	UTSW	1	158956644	nonsense	probably null
R2118:Pappa2	UTSW	1	158857266	missense	probably damaging	1.00
R2268:Pappa2	UTSW	1	158857271	missense	probably damaging	1.00
R2269:Pappa2	UTSW	1	158857271	missense	probably damaging	1.00
R2347:Pappa2	UTSW	1	158765043	missense	probably damaging	1.00
R3024:Pappa2	UTSW	1	158936225	missense	probably benign	0.00
R3706:Pappa2	UTSW	1	158834918	nonsense	probably null
R3707:Pappa2	UTSW	1	158834918	nonsense	probably null
R3708:Pappa2	UTSW	1	158834918	nonsense	probably null
R4600:Pappa2	UTSW	1	158814445	missense	probably damaging	1.00
R4737:Pappa2	UTSW	1	158957012	missense	probably benign
R4738:Pappa2	UTSW	1	158957012	missense	probably benign
R4739:Pappa2	UTSW	1	158957002	missense	probably damaging	0.99
R4739:Pappa2	UTSW	1	158957012	missense	probably benign
R4788:Pappa2	UTSW	1	158783917	missense	possibly damaging	0.86
R4798:Pappa2	UTSW	1	158857379	missense	probably damaging	0.99
R4952:Pappa2	UTSW	1	158857136	missense	probably null	1.00
R5121:Pappa2	UTSW	1	158838627	missense	probably benign	0.01
R5144:Pappa2	UTSW	1	158957133	missense	probably benign	0.03
R5159:Pappa2	UTSW	1	158761619	missense	probably damaging	1.00
R5278:Pappa2	UTSW	1	158782403	splice site	probably null
R5428:Pappa2	UTSW	1	158814785	missense	possibly damaging	0.53
R5452:Pappa2	UTSW	1	158838602	missense	probably benign	0.00
R5477:Pappa2	UTSW	1	158956738	missense	probably benign	0.00
R5504:Pappa2	UTSW	1	158848045	missense	probably benign	0.00
R5852:Pappa2	UTSW	1	158717014	missense	probably damaging	1.00
R6003:Pappa2	UTSW	1	158936250	missense	probably benign	0.23
R6129:Pappa2	UTSW	1	158714997	nonsense	probably null
R6137:Pappa2	UTSW	1	158871543	missense	probably damaging	1.00
R6374:Pappa2	UTSW	1	158956645	missense	probably damaging	1.00
R6472:Pappa2	UTSW	1	158834799	missense	probably damaging	1.00
R6804:Pappa2	UTSW	1	158936868	missense	probably benign	0.24
R7020:Pappa2	UTSW	1	158848009	missense	probably damaging	0.98
R7051:Pappa2	UTSW	1	158957183	missense	unknown
R7082:Pappa2	UTSW	1	158763119	missense	possibly damaging	0.65
R7111:Pappa2	UTSW	1	158956526	missense	probably benign	0.38
R7213:Pappa2	UTSW	1	158936886	missense	possibly damaging	0.93
R7575:Pappa2	UTSW	1	158814530	missense	probably damaging	1.00
R7587:Pappa2	UTSW	1	158851131	missense	probably damaging	1.00
R7826:Pappa2	UTSW	1	158936440	nonsense	probably null
R8007:Pappa2	UTSW	1	158782304	missense	probably damaging	0.99
R8050:Pappa2	UTSW	1	158848400	missense	probably damaging	1.00
R8063:Pappa2	UTSW	1	158936556	missense	possibly damaging	0.79
R8068:Pappa2	UTSW	1	158935985	missense	possibly damaging	0.87
R8128:Pappa2	UTSW	1	158936664	missense	possibly damaging	0.75
X0058:Pappa2	UTSW	1	158814397	missense	probably null
X0061:Pappa2	UTSW	1	158936618	missense	possibly damaging	0.87
Z1176:Pappa2	UTSW	1	158814814	missense	probably damaging	1.00
Z1176:Pappa2	UTSW	1	158814816	missense	probably damaging	1.00
Z1176:Pappa2	UTSW	1	158956933	missense	probably benign

Posted On

2014-01-21