Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03128:Pappa2'

410220

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 #

IGL03128

Quality Score

Status

Chromosome

Chromosomal Location

158711727-158980490 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 158936484 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 486 (E486K)

Ref Sequence

ENSEMBL: ENSMUSP00000124022 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159861
AA Change: E486K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124022
Gene: ENSMUSG00000073530
AA Change: E486K

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox1	A	T	11: 116,182,003	L114M	probably damaging	Het
Bahcc1	G	A	11: 120,268,434		probably benign	Het
Btrc	T	A	19: 45,513,520	I226N	probably damaging	Het
Cth	C	T	3: 157,921,035	G56D	probably damaging	Het
Dkk2	T	C	3: 132,177,860		probably benign	Het
Dock3	A	T	9: 107,032,292	M271K	probably benign	Het
Fam78b	T	A	1: 167,078,941	L223Q	probably damaging	Het
Fgl2	A	T	5: 21,373,293	M193L	probably benign	Het
Ifi205	A	T	1: 174,015,086	V348E	probably damaging	Het
Igkv4-70	T	A	6: 69,268,014	K74N	probably benign	Het
Kdm3b	A	T	18: 34,827,427	K1355M	probably damaging	Het
Ltn1	A	T	16: 87,415,944	N576K	probably benign	Het
Ms4a4c	A	T	19: 11,417,641		probably null	Het
Nfic	T	C	10: 81,406,191	T328A	probably benign	Het
Npat	T	A	9: 53,550,033		probably benign	Het
Nxpe2	T	C	9: 48,319,498	I524V	probably benign	Het
Orc5	G	T	5: 22,516,773	D360E	probably damaging	Het
Pde9a	C	T	17: 31,459,910	H216Y	possibly damaging	Het
Polr2k	C	A	15: 36,174,191	P31Q	probably damaging	Het
Prkdc	G	T	16: 15,700,744		probably benign	Het
Raver1	A	T	9: 21,080,742	L385Q	probably damaging	Het
Slc10a7	C	A	8: 78,525,217	T80K	probably damaging	Het
Smg1	T	C	7: 118,203,059	K272R	probably benign	Het
Supt20	A	G	3: 54,708,287	I200V	probably benign	Het
Tbc1d9	A	G	8: 83,166,085	N4S	probably benign	Het
Tor1aip1	A	G	1: 156,007,035	S356P	probably damaging	Het
Trpm3	A	G	19: 22,914,465	Y903C	probably damaging	Het
Vmn2r71	T	G	7: 85,619,587	F333V	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
IGL01717:Pappa2	APN	1	158857132	critical splice donor site	probably null
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
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
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

2016-08-02