Mutagenetix > Incidental Mutation

Incidental Mutation 'R5278:Pappa2'

404031

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

042865-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5278 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

158539297-158788019 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 158609973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

E9PZ87

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

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

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

Predicted Effect

probably null
Transcript: ENSMUST00000161589

SMART Domains

Protein: ENSMUSP00000124316
Gene: ENSMUSG00000073530

Domain	Start	End	E-Value	Type
low complexity region	23	32	N/A	INTRINSIC
CCP	67	130	4.97e0	SMART
CCP	135	192	4.81e-1	SMART
CCP	196	245	2.84e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000161589

SMART Domains

Protein: ENSMUSP00000124316
Gene: ENSMUSG00000073530

Domain	Start	End	E-Value	Type
low complexity region	23	32	N/A	INTRINSIC
CCP	67	130	4.97e0	SMART
CCP	135	192	4.81e-1	SMART
CCP	196	245	2.84e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000161589

SMART Domains

Protein: ENSMUSP00000124316
Gene: ENSMUSG00000073530

Domain	Start	End	E-Value	Type
low complexity region	23	32	N/A	INTRINSIC
CCP	67	130	4.97e0	SMART
CCP	135	192	4.81e-1	SMART
CCP	196	245	2.84e0	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.6%

Validation Efficiency

98% (50/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	C	T	5: 35,745,500 (GRCm39)		probably benign	Het
Acvr2b	G	A	9: 119,261,555 (GRCm39)	V383I	probably damaging	Het
Akap12	T	C	10: 4,304,792 (GRCm39)	M534T	probably benign	Het
Akp3	G	A	1: 87,052,888 (GRCm39)	E26K	probably benign	Het
Alcam	A	G	16: 52,094,638 (GRCm39)	I371T	probably benign	Het
Ap2a1	T	C	7: 44,552,203 (GRCm39)	T794A	probably benign	Het
Apeh	G	A	9: 107,968,457 (GRCm39)	P349S	probably benign	Het
Asb7	G	T	7: 66,328,933 (GRCm39)	Q36K	possibly damaging	Het
Asl	A	G	5: 130,047,672 (GRCm39)		probably null	Het
Atp13a2	T	A	4: 140,728,129 (GRCm39)	I574N	probably damaging	Het
Bcl2l2	T	A	14: 55,122,251 (GRCm39)	I138N	probably damaging	Het
Cacna1d	C	T	14: 30,074,881 (GRCm39)		probably null	Het
Ccdc9	C	T	7: 16,012,306 (GRCm39)	W1*	probably null	Het
Cdh18	T	A	15: 23,474,244 (GRCm39)	S705T	probably benign	Het
Ces5a	A	T	8: 94,252,266 (GRCm39)	W209R	probably damaging	Het
Chpf2	T	A	5: 24,793,088 (GRCm39)		probably benign	Het
Cul9	T	A	17: 46,821,799 (GRCm39)	H1892L	probably damaging	Het
Cxcl13	A	G	5: 96,106,586 (GRCm39)	T53A	probably benign	Het
Cyp2s1	T	A	7: 25,505,309 (GRCm39)	Y385F	possibly damaging	Het
Ddx46	A	G	13: 55,823,851 (GRCm39)	E915G	probably damaging	Het
Elovl3	G	A	19: 46,122,540 (GRCm39)	V113I	probably benign	Het
Fam53c	A	T	18: 34,895,671 (GRCm39)		probably benign	Het
Fbxw15	A	T	9: 109,384,752 (GRCm39)	F349L	probably benign	Het
Fuz	C	T	7: 44,545,701 (GRCm39)	P9L	probably benign	Het
Igf1r	C	T	7: 67,843,166 (GRCm39)	T759M	possibly damaging	Het
Impg2	G	A	16: 56,041,880 (GRCm39)	D175N	probably benign	Het
Jade1	G	T	3: 41,543,444 (GRCm39)	R43L	possibly damaging	Het
Kntc1	A	G	5: 123,919,077 (GRCm39)	E816G	probably damaging	Het
Mettl8	A	T	2: 70,803,641 (GRCm39)	D262E	probably damaging	Het
Mrpl48	A	G	7: 100,201,790 (GRCm39)	V156A	probably damaging	Het
Mst1	A	C	9: 107,959,414 (GRCm39)	K233N	probably damaging	Het
Myh13	A	G	11: 67,225,390 (GRCm39)	I252V	probably benign	Het
Nox4	T	C	7: 87,021,134 (GRCm39)	W449R	probably damaging	Het
Or2a52	T	C	6: 43,144,655 (GRCm39)	L221P	probably damaging	Het
Or2l5	A	T	16: 19,334,128 (GRCm39)	L86*	probably null	Het
Pank4	T	C	4: 155,056,622 (GRCm39)	L351P	probably damaging	Het
Peg10	CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC	CCATCAGGATGCACATCAGGATCC	6: 4,756,442 (GRCm39)		probably benign	Het
Polr3e	T	A	7: 120,522,184 (GRCm39)	I10K	possibly damaging	Het
Prkdc	T	C	16: 15,532,838 (GRCm39)	I1489T	probably damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sh3pxd2b	A	G	11: 32,331,447 (GRCm39)	D57G	probably damaging	Het
Shank2	G	A	7: 143,622,612 (GRCm39)		probably null	Het
Slc15a4	A	T	5: 127,694,033 (GRCm39)	V134E	probably damaging	Het
Slc49a4	A	G	16: 35,518,358 (GRCm39)	S452P	probably damaging	Het
Stxbp5l	G	T	16: 37,007,016 (GRCm39)	Q726K	probably benign	Het
Tesk2	T	G	4: 116,663,133 (GRCm39)		probably benign	Het
Tex2	A	G	11: 106,458,639 (GRCm39)	S264P	probably benign	Het
Tnik	A	G	3: 28,704,209 (GRCm39)	Q1003R	probably damaging	Het
Trip12	C	T	1: 84,739,868 (GRCm39)	R628H	probably damaging	Het
Vmn2r69	G	A	7: 85,060,991 (GRCm39)	H198Y	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
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	158,784,582 (GRCm39)	missense	probably benign
R4739:Pappa2	UTSW	1	158,784,572 (GRCm39)	missense	probably damaging	0.99
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
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'- ACAGGAACACTCACTTCTTGC -3'
(R):5'- ACCTCACTGAGAACTGTAGAGTAAG -3'

Sequencing Primer
(F):5'- ACATAGTAGCCTGGTTTGCAC -3'
(R):5'- TCCACATAGGAGGGAGAT -3'

Posted On

2016-07-22