Mutagenetix > Incidental Mutation

Incidental Mutation 'R2037:Pappa2'

224719

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

040044-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2037 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

158539297-158788019 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 158784214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 265 (Y265*)

Ref Sequence

ENSEMBL: ENSMUSP00000124022 (fasta)

Gene Model

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

AlphaFold

E9PZ87

Predicted Effect

probably null
Transcript: ENSMUST00000159861
AA Change: Y265*

SMART Domains

Protein: ENSMUSP00000124022
Gene: ENSMUSG00000073530
AA Change: Y265*

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: ENSMUST00000159892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177789

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,980,810 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,023,815 (GRCm39)	Y391C	probably benign	Het
Ankfn1	A	T	11: 89,346,946 (GRCm39)	S296T	probably benign	Het
Apob	A	G	12: 8,057,488 (GRCm39)	D1957G	probably benign	Het
Baz1a	G	T	12: 54,976,431 (GRCm39)	P415Q	probably damaging	Het
Brca2	T	A	5: 150,464,134 (GRCm39)	H1299Q	probably benign	Het
C7	G	T	15: 5,063,720 (GRCm39)	S227*	probably null	Het
Catsperb	A	T	12: 101,474,221 (GRCm39)	R306S	probably damaging	Het
Cbx3	T	A	6: 51,448,793 (GRCm39)		probably null	Het
Ccnt2	A	G	1: 127,731,136 (GRCm39)	Y671C	probably damaging	Het
Crocc	A	G	4: 140,774,253 (GRCm39)		probably null	Het
Ctr9	G	A	7: 110,646,014 (GRCm39)	V669I	probably benign	Het
Dck	T	G	5: 88,920,576 (GRCm39)	Y99D	probably damaging	Het
Ddx52	T	A	11: 83,835,432 (GRCm39)	D119E	probably benign	Het
Dnah10	A	T	5: 124,823,768 (GRCm39)	K596N	probably benign	Het
Dnah7a	A	T	1: 53,621,741 (GRCm39)	V1128E	probably benign	Het
Dph1	A	T	11: 75,076,679 (GRCm39)		probably null	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Enthd1	A	G	15: 80,444,550 (GRCm39)	S2P	possibly damaging	Het
Erc1	A	C	6: 119,699,216 (GRCm39)	V802G	possibly damaging	Het
F8	ATCTCTCTC	ATCTCTC	X: 74,366,604 (GRCm39)		probably null	Het
Fam169a	C	A	13: 97,243,600 (GRCm39)	A210E	probably benign	Het
Fcmr	A	G	1: 130,806,070 (GRCm39)	D342G	possibly damaging	Het
Fgfr4	T	G	13: 55,315,702 (GRCm39)	V743G	possibly damaging	Het
Fsip2	A	G	2: 82,808,856 (GRCm39)	D1725G	probably damaging	Het
Heatr5b	A	T	17: 79,136,934 (GRCm39)	C195*	probably null	Het
Herc2	G	A	7: 55,855,709 (GRCm39)	A3882T	probably damaging	Het
Il20	T	A	1: 130,836,115 (GRCm39)	N143Y	probably damaging	Het
Inpp5b	A	G	4: 124,692,092 (GRCm39)	S892G	probably damaging	Het
Ipo13	A	T	4: 117,761,858 (GRCm39)	Y447*	probably null	Het
Itprid1	A	G	6: 55,874,860 (GRCm39)	N270S	probably benign	Het
Kbtbd12	A	T	6: 88,594,779 (GRCm39)	N350K	probably benign	Het
Kiz	T	C	2: 146,811,880 (GRCm39)	F663S	probably damaging	Het
Matn2	A	G	15: 34,433,263 (GRCm39)	D870G	probably benign	Het
Methig1	C	T	15: 100,251,467 (GRCm39)	A126V	probably benign	Het
Mme	A	G	3: 63,235,681 (GRCm39)	D209G	probably null	Het
Mroh4	A	G	15: 74,481,610 (GRCm39)	F811L	possibly damaging	Het
Myo9b	G	T	8: 71,743,510 (GRCm39)	K190N	probably damaging	Het
Ncf1	T	C	5: 134,258,406 (GRCm39)	I6V	probably damaging	Het
Nmt2	T	C	2: 3,310,618 (GRCm39)	F121L	probably damaging	Het
Nol10	A	G	12: 17,411,152 (GRCm39)	D183G	probably benign	Het
Nsun7	T	C	5: 66,418,429 (GRCm39)	V53A	probably benign	Het
Or10u4	T	C	10: 129,802,009 (GRCm39)	I187V	probably benign	Het
Or8j3	T	C	2: 86,028,176 (GRCm39)	S307G	probably benign	Het
Or8k22	T	C	2: 86,162,774 (GRCm39)	N309D	probably benign	Het
Pigg	G	A	5: 108,486,518 (GRCm39)	A724T	probably damaging	Het
Pik3r4	C	T	9: 105,527,534 (GRCm39)	R296C	probably benign	Het
Pkhd1l1	A	G	15: 44,431,617 (GRCm39)		probably null	Het
Pld4	A	G	12: 112,734,992 (GRCm39)	D483G	probably damaging	Het
Ppip5k1	C	T	2: 121,173,674 (GRCm39)	R399H	probably damaging	Het
Qrfpr	A	T	3: 36,236,806 (GRCm39)	H198Q	probably damaging	Het
Rasgrf2	A	T	13: 92,050,748 (GRCm39)	D883E	probably damaging	Het
Retnlg	T	C	16: 48,694,615 (GRCm39)	C88R	probably damaging	Het
Sin3a	C	T	9: 57,004,109 (GRCm39)	T287I	probably benign	Het
Slc44a1	GCC	GCCCCC	4: 53,563,243 (GRCm39)		probably benign	Het
Sppl2c	G	C	11: 104,077,307 (GRCm39)	V36L	probably benign	Het
Srp72	T	A	5: 77,124,338 (GRCm39)	I68N	probably damaging	Het
Srrm3	T	A	5: 135,883,231 (GRCm39)	S195R	probably damaging	Het
Srrm4	T	A	5: 116,605,887 (GRCm39)		probably benign	Het
Ssb	A	G	2: 69,699,163 (GRCm39)	S199G	probably benign	Het
Sult2a6	T	A	7: 13,988,634 (GRCm39)	Y42F	probably damaging	Het
Syne2	A	G	12: 76,072,343 (GRCm39)	T120A	probably benign	Het
Tas1r1	A	G	4: 152,112,627 (GRCm39)	F809L	probably damaging	Het
Tead3	A	G	17: 28,555,544 (GRCm39)	S117P	probably damaging	Het
Tefm	C	T	11: 80,031,056 (GRCm39)	R60H	probably damaging	Het
Tmem104	G	A	11: 115,092,221 (GRCm39)	R110H	possibly damaging	Het
Tnxb	G	A	17: 34,918,179 (GRCm39)	G2364D	probably damaging	Het
Vmn1r211	T	A	13: 23,036,134 (GRCm39)	I178F	probably damaging	Het
Vmn1r6	A	T	6: 56,980,109 (GRCm39)	Y235F	probably damaging	Het
Xrcc5	C	A	1: 72,385,529 (GRCm39)	T540K	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
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
R3708: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'- TGGTGCCTACACTGCTTCTG -3'
(R):5'- AAGACATGACTGGAGACCCC -3'

Sequencing Primer
(F):5'- TGCTTCTGCACTGATAAATAACCC -3'
(R):5'- CCAGAATACCCCTCAAGGTTTC -3'

Posted On

2014-08-25