Mutagenetix > Incidental Mutation

Incidental Mutation 'R3708:Pappa2'

259421

Institutional Source

Beutler Lab

Gene Symbol

Pappa2

Ensembl Gene

ENSMUSG00000073530

Gene Name

pappalysin 2

Synonyms

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

MMRRC Submission

040701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3708 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

158539297-158788019 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 158662488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1162 (Y1162*)

Ref Sequence

ENSEMBL: ENSMUSP00000124022 (fasta)

Gene Model

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

AlphaFold

E9PZ87

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159860

Predicted Effect

probably null
Transcript: ENSMUST00000159861
AA Change: Y1162*

SMART Domains

Protein: ENSMUSP00000124022
Gene: ENSMUSG00000073530
AA Change: Y1162*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160206

Meta Mutation Damage Score

0.9716

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 92.1%

Validation Efficiency

98% (51/52)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Abcc5	G	T	16: 20,190,930 (GRCm39)	Q807K	probably benign	Het
Amfr	T	C	8: 94,709,948 (GRCm39)	H419R	probably benign	Het
Atp8b2	A	T	3: 89,852,459 (GRCm39)	F866I	probably damaging	Het
Atxn7l3	G	A	11: 102,182,705 (GRCm39)		probably benign	Het
Bcs1l	A	G	1: 74,629,264 (GRCm39)		probably benign	Het
Card11	G	A	5: 140,872,890 (GRCm39)	R608C	probably damaging	Het
Celf2	C	A	2: 6,629,489 (GRCm39)	K137N	probably damaging	Het
Cmya5	A	T	13: 93,231,874 (GRCm39)	Y1071*	probably null	Het
Cyp2d10	A	G	15: 82,287,217 (GRCm39)	F469L	possibly damaging	Het
Cyp3a41a	A	G	5: 145,654,733 (GRCm39)		probably null	Het
Dnah8	A	T	17: 30,958,631 (GRCm39)	I2158L	probably damaging	Het
Dtnb	T	A	12: 3,639,156 (GRCm39)		probably null	Het
Dync1h1	T	C	12: 110,609,563 (GRCm39)	F2782L	probably damaging	Het
Ednrb	A	G	14: 104,054,516 (GRCm39)	Y439H	probably damaging	Het
Ferd3l	T	C	12: 33,978,748 (GRCm39)	V87A	probably benign	Het
Gphn	T	A	12: 78,579,467 (GRCm39)	S320T	probably benign	Het
Gpr39	C	T	1: 125,800,349 (GRCm39)	H367Y	probably damaging	Het
Hspa4l	A	T	3: 40,736,125 (GRCm39)	N582I	possibly damaging	Het
Ighv1-85	A	T	12: 115,963,836 (GRCm39)	W55R	probably damaging	Het
Lelp1	A	C	3: 92,042,714 (GRCm39)	C112G	unknown	Het
Lrba	A	G	3: 86,192,331 (GRCm39)	M82V	possibly damaging	Het
Macrod2	C	A	2: 141,652,549 (GRCm39)	T204K	probably damaging	Het
Map2	A	T	1: 66,455,714 (GRCm39)		probably benign	Het
Ncor1	T	C	11: 62,235,513 (GRCm39)	K647R	probably damaging	Het
Nr4a3	A	T	4: 48,056,699 (GRCm39)	Y417F	probably damaging	Het
Nup50l	G	A	6: 96,142,933 (GRCm39)	T37I	possibly damaging	Het
Obox7	C	A	7: 14,398,122 (GRCm39)	S54*	probably null	Het
Or2n1c	A	G	17: 38,519,174 (GRCm39)	I13V	probably benign	Het
Or52r1c	T	G	7: 102,735,501 (GRCm39)	Y254D	probably damaging	Het
Or8b101	T	C	9: 38,020,740 (GRCm39)	S253P	probably damaging	Het
Or9g20	T	A	2: 85,630,342 (GRCm39)	I91L	probably benign	Het
Pcdhb19	T	A	18: 37,630,442 (GRCm39)	I79K	probably benign	Het
Pi4k2a	C	T	19: 42,079,370 (GRCm39)	Q144*	probably null	Het
Pigc	T	A	1: 161,798,663 (GRCm39)	M215K	probably benign	Het
Pnma8a	T	A	7: 16,694,150 (GRCm39)	S2T	probably damaging	Het
Ppfia4	T	C	1: 134,237,398 (GRCm39)	E967G	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rims3	A	G	4: 120,740,352 (GRCm39)	T100A	probably damaging	Het
Serpinb9	A	T	13: 33,192,002 (GRCm39)	N61I	possibly damaging	Het
Sis	A	G	3: 72,850,856 (GRCm39)	M614T	probably benign	Het
Slc6a17	C	T	3: 107,400,401 (GRCm39)	V243I	probably benign	Het
Smad9	A	T	3: 54,693,602 (GRCm39)	Y177F	probably benign	Het
Vmn2r69	T	C	7: 85,061,029 (GRCm39)	D185G	probably damaging	Het
Vps36	G	T	8: 22,682,899 (GRCm39)	V5L	probably benign	Het
Vwa8	T	A	14: 79,300,136 (GRCm39)		probably benign	Het

Other mutations in Pappa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Pappa2	APN	1	158,684,718 (GRCm39)	missense	probably damaging	1.00
IGL01394:Pappa2	APN	1	158,592,674 (GRCm39)	splice site	probably benign
IGL01570:Pappa2	APN	1	158,642,110 (GRCm39)	nonsense	probably null
IGL01618:Pappa2	APN	1	158,684,948 (GRCm39)	missense	probably damaging	1.00
IGL01717:Pappa2	APN	1	158,684,702 (GRCm39)	critical splice donor site	probably null
IGL01804:Pappa2	APN	1	158,764,089 (GRCm39)	missense	probably benign
IGL01904:Pappa2	APN	1	158,611,511 (GRCm39)	missense	probably damaging	0.99
IGL02116:Pappa2	APN	1	158,672,695 (GRCm39)	missense	probably benign	0.01
IGL02174:Pappa2	APN	1	158,589,188 (GRCm39)	missense	probably damaging	1.00
IGL02302:Pappa2	APN	1	158,542,571 (GRCm39)	missense	probably benign	0.38
IGL02422:Pappa2	APN	1	158,764,503 (GRCm39)	missense	probably damaging	1.00
IGL02572:Pappa2	APN	1	158,678,786 (GRCm39)	missense	probably benign
IGL02659:Pappa2	APN	1	158,764,364 (GRCm39)	missense	probably damaging	0.97
IGL02887:Pappa2	APN	1	158,609,829 (GRCm39)	missense	probably damaging	1.00
IGL02981:Pappa2	APN	1	158,678,714 (GRCm39)	missense	probably benign	0.00
IGL03128:Pappa2	APN	1	158,764,054 (GRCm39)	missense	probably benign	0.16
IGL03142:Pappa2	APN	1	158,682,501 (GRCm39)	missense	probably damaging	1.00
IGL03270:Pappa2	APN	1	158,592,637 (GRCm39)	missense	possibly damaging	0.78
Fritas	UTSW	1	158,675,533 (GRCm39)	missense	possibly damaging	0.77
Gulliver	UTSW	1	158,684,706 (GRCm39)	missense	probably null	1.00
Lilliputian	UTSW	1	158,544,560 (GRCm39)	missense	probably damaging	1.00
Lilliputian2	UTSW	1	158,662,488 (GRCm39)	nonsense	probably null
lilliputian3	UTSW	1	158,609,973 (GRCm39)	splice site	probably null
Pitzel	UTSW	1	158,784,215 (GRCm39)	missense	probably damaging	1.00
shrink	UTSW	1	158,590,762 (GRCm39)	missense	probably damaging	1.00
R0106:Pappa2	UTSW	1	158,542,547 (GRCm39)	missense	probably damaging	1.00
R0106:Pappa2	UTSW	1	158,542,547 (GRCm39)	missense	probably damaging	1.00
R0172:Pappa2	UTSW	1	158,682,419 (GRCm39)	critical splice donor site	probably null
R0194:Pappa2	UTSW	1	158,592,671 (GRCm39)	splice site	probably benign
R0418:Pappa2	UTSW	1	158,544,560 (GRCm39)	missense	probably damaging	1.00
R0421:Pappa2	UTSW	1	158,675,650 (GRCm39)	missense	probably damaging	1.00
R0441:Pappa2	UTSW	1	158,590,628 (GRCm39)	unclassified	probably benign
R0602:Pappa2	UTSW	1	158,590,625 (GRCm39)	unclassified	probably benign
R0630:Pappa2	UTSW	1	158,660,343 (GRCm39)	missense	probably benign
R0760:Pappa2	UTSW	1	158,544,531 (GRCm39)	critical splice donor site	probably null
R1146:Pappa2	UTSW	1	158,682,552 (GRCm39)	missense	probably damaging	1.00
R1146:Pappa2	UTSW	1	158,682,552 (GRCm39)	missense	probably damaging	1.00
R1243:Pappa2	UTSW	1	158,672,670 (GRCm39)	missense	probably damaging	1.00
R1413:Pappa2	UTSW	1	158,764,124 (GRCm39)	missense	probably benign	0.00
R1502:Pappa2	UTSW	1	158,784,858 (GRCm39)	missense	probably damaging	1.00
R1599:Pappa2	UTSW	1	158,684,742 (GRCm39)	missense	probably damaging	1.00
R1689:Pappa2	UTSW	1	158,784,968 (GRCm39)	missense	probably damaging	1.00
R1750:Pappa2	UTSW	1	158,590,720 (GRCm39)	nonsense	probably null
R1772:Pappa2	UTSW	1	158,641,938 (GRCm39)	missense	possibly damaging	0.92
R1832:Pappa2	UTSW	1	158,684,886 (GRCm39)	missense	probably damaging	1.00
R1905:Pappa2	UTSW	1	158,631,073 (GRCm39)	splice site	probably null
R1914:Pappa2	UTSW	1	158,578,133 (GRCm39)	missense	probably damaging	0.97
R2013:Pappa2	UTSW	1	158,662,498 (GRCm39)	missense	probably damaging	1.00
R2037:Pappa2	UTSW	1	158,784,214 (GRCm39)	nonsense	probably null
R2118:Pappa2	UTSW	1	158,684,836 (GRCm39)	missense	probably damaging	1.00
R2268:Pappa2	UTSW	1	158,684,841 (GRCm39)	missense	probably damaging	1.00
R2269:Pappa2	UTSW	1	158,684,841 (GRCm39)	missense	probably damaging	1.00
R2347:Pappa2	UTSW	1	158,592,613 (GRCm39)	missense	probably damaging	1.00
R3024:Pappa2	UTSW	1	158,763,795 (GRCm39)	missense	probably benign	0.00
R3706:Pappa2	UTSW	1	158,662,488 (GRCm39)	nonsense	probably null
R3707:Pappa2	UTSW	1	158,662,488 (GRCm39)	nonsense	probably null
R4600:Pappa2	UTSW	1	158,642,015 (GRCm39)	missense	probably damaging	1.00
R4737:Pappa2	UTSW	1	158,784,582 (GRCm39)	missense	probably benign
R4738:Pappa2	UTSW	1	158,784,582 (GRCm39)	missense	probably benign
R4739:Pappa2	UTSW	1	158,784,572 (GRCm39)	missense	probably damaging	0.99
R4739:Pappa2	UTSW	1	158,784,582 (GRCm39)	missense	probably benign
R4788:Pappa2	UTSW	1	158,611,487 (GRCm39)	missense	possibly damaging	0.86
R4798:Pappa2	UTSW	1	158,684,949 (GRCm39)	missense	probably damaging	0.99
R4952:Pappa2	UTSW	1	158,684,706 (GRCm39)	missense	probably null	1.00
R5121:Pappa2	UTSW	1	158,666,197 (GRCm39)	missense	probably benign	0.01
R5144:Pappa2	UTSW	1	158,784,703 (GRCm39)	missense	probably benign	0.03
R5159:Pappa2	UTSW	1	158,589,189 (GRCm39)	missense	probably damaging	1.00
R5278:Pappa2	UTSW	1	158,609,973 (GRCm39)	splice site	probably null
R5428:Pappa2	UTSW	1	158,642,355 (GRCm39)	missense	possibly damaging	0.53
R5452:Pappa2	UTSW	1	158,666,172 (GRCm39)	missense	probably benign	0.00
R5477:Pappa2	UTSW	1	158,784,308 (GRCm39)	missense	probably benign	0.00
R5504:Pappa2	UTSW	1	158,675,615 (GRCm39)	missense	probably benign	0.00
R5852:Pappa2	UTSW	1	158,544,584 (GRCm39)	missense	probably damaging	1.00
R6003:Pappa2	UTSW	1	158,763,820 (GRCm39)	missense	probably benign	0.23
R6129:Pappa2	UTSW	1	158,542,567 (GRCm39)	nonsense	probably null
R6137:Pappa2	UTSW	1	158,699,113 (GRCm39)	missense	probably damaging	1.00
R6374:Pappa2	UTSW	1	158,784,215 (GRCm39)	missense	probably damaging	1.00
R6472:Pappa2	UTSW	1	158,662,369 (GRCm39)	missense	probably damaging	1.00
R6804:Pappa2	UTSW	1	158,764,438 (GRCm39)	missense	probably benign	0.24
R7020:Pappa2	UTSW	1	158,675,579 (GRCm39)	missense	probably damaging	0.98
R7051:Pappa2	UTSW	1	158,784,753 (GRCm39)	missense	unknown
R7082:Pappa2	UTSW	1	158,590,689 (GRCm39)	missense	possibly damaging	0.65
R7111:Pappa2	UTSW	1	158,784,096 (GRCm39)	missense	probably benign	0.38
R7213:Pappa2	UTSW	1	158,764,456 (GRCm39)	missense	possibly damaging	0.93
R7575:Pappa2	UTSW	1	158,642,100 (GRCm39)	missense	probably damaging	1.00
R7587:Pappa2	UTSW	1	158,678,701 (GRCm39)	missense	probably damaging	1.00
R7826:Pappa2	UTSW	1	158,764,010 (GRCm39)	nonsense	probably null
R7957:Pappa2	UTSW	1	158,589,131 (GRCm39)	nonsense	probably null
R8007:Pappa2	UTSW	1	158,609,874 (GRCm39)	missense	probably damaging	0.99
R8050:Pappa2	UTSW	1	158,675,970 (GRCm39)	missense	probably damaging	1.00
R8063:Pappa2	UTSW	1	158,764,126 (GRCm39)	missense	possibly damaging	0.79
R8068:Pappa2	UTSW	1	158,763,555 (GRCm39)	missense	possibly damaging	0.87
R8128:Pappa2	UTSW	1	158,764,234 (GRCm39)	missense	possibly damaging	0.75
R8264:Pappa2	UTSW	1	158,682,543 (GRCm39)	missense	probably damaging	1.00
R8317:Pappa2	UTSW	1	158,592,530 (GRCm39)	missense	probably damaging	1.00
R8499:Pappa2	UTSW	1	158,764,092 (GRCm39)	missense	probably damaging	1.00
R8744:Pappa2	UTSW	1	158,611,487 (GRCm39)	missense	possibly damaging	0.86
R8793:Pappa2	UTSW	1	158,678,731 (GRCm39)	missense	probably damaging	1.00
R8932:Pappa2	UTSW	1	158,590,762 (GRCm39)	missense	probably damaging	1.00
R9004:Pappa2	UTSW	1	158,764,518 (GRCm39)	missense	possibly damaging	0.67
R9004:Pappa2	UTSW	1	158,763,979 (GRCm39)	missense	probably damaging	1.00
R9088:Pappa2	UTSW	1	158,763,927 (GRCm39)	missense	probably damaging	1.00
R9191:Pappa2	UTSW	1	158,684,988 (GRCm39)	missense	probably damaging	1.00
R9243:Pappa2	UTSW	1	158,763,763 (GRCm39)	missense	probably damaging	0.99
R9280:Pappa2	UTSW	1	158,675,533 (GRCm39)	missense	possibly damaging	0.77
R9301:Pappa2	UTSW	1	158,672,614 (GRCm39)	missense	probably damaging	0.96
R9306:Pappa2	UTSW	1	158,764,492 (GRCm39)	missense	probably damaging	1.00
R9367:Pappa2	UTSW	1	158,784,542 (GRCm39)	missense	probably benign	0.40
R9471:Pappa2	UTSW	1	158,642,029 (GRCm39)	missense	probably benign	0.04
R9544:Pappa2	UTSW	1	158,784,817 (GRCm39)	missense	probably damaging	0.99
R9680:Pappa2	UTSW	1	158,609,818 (GRCm39)	missense	possibly damaging	0.78
R9762:Pappa2	UTSW	1	158,684,948 (GRCm39)	missense	probably damaging	1.00
R9774:Pappa2	UTSW	1	158,675,920 (GRCm39)	missense	probably damaging	0.99
R9776:Pappa2	UTSW	1	158,611,481 (GRCm39)	missense	probably damaging	1.00
X0058:Pappa2	UTSW	1	158,641,967 (GRCm39)	missense	probably null
X0061:Pappa2	UTSW	1	158,764,188 (GRCm39)	missense	possibly damaging	0.87
Z1176:Pappa2	UTSW	1	158,784,503 (GRCm39)	missense	probably benign
Z1176:Pappa2	UTSW	1	158,642,386 (GRCm39)	missense	probably damaging	1.00
Z1176:Pappa2	UTSW	1	158,642,384 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCATGACTCCATTCTTCTGG -3'
(R):5'- CTGCTTCTTCCCTCATAAAGAGTG -3'

Sequencing Primer
(F):5'- CTGGCTTAACTTACCATTGAATGAGG -3'
(R):5'- TCTTCCCTCATAAAGAGTGAAAAAC -3'

Posted On

2015-01-23