Mutagenetix > Incidental Mutation

Incidental Mutation 'R4788:Pappa2'

367220

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4788 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

158539297-158788019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 158611487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1492 (V1492A)

Ref Sequence

ENSEMBL: ENSMUSP00000124022 (fasta)

Gene Model

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

AlphaFold

E9PZ87

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159861
AA Change: V1492A

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124022
Gene: ENSMUSG00000073530
AA Change: V1492A

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

SMART Domains

Protein: ENSMUSP00000124316
Gene: ENSMUSG00000073530
AA Change: V164A

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

Coding Region Coverage

1x: 98.8%
3x: 98.4%
10x: 96.9%
20x: 94.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,960,361 (GRCm39)	D815N	probably damaging	Het
Abcc9	A	T	6: 142,566,456 (GRCm39)	C1135*	probably null	Het
Ap3b1	G	A	13: 94,702,149 (GRCm39)	M1067I	unknown	Het
Arhgap15	T	C	2: 43,638,902 (GRCm39)	M1T	probably null	Het
Boc	T	C	16: 44,320,796 (GRCm39)	D288G	probably damaging	Het
Brsk1	G	T	7: 4,701,954 (GRCm39)		probably null	Het
Cabp1	T	C	5: 115,313,530 (GRCm39)	N226S	probably benign	Het
Capn13	A	T	17: 73,644,427 (GRCm39)	Y367*	probably null	Het
Ccdc191	A	G	16: 43,777,185 (GRCm39)	E632G	probably damaging	Het
Cit	T	C	5: 116,071,565 (GRCm39)	S591P	probably damaging	Het
Ckmt1	T	C	2: 121,190,427 (GRCm39)	V118A	possibly damaging	Het
Cndp2	T	C	18: 84,693,289 (GRCm39)	N157S	probably damaging	Het
Col6a3	A	G	1: 90,700,672 (GRCm39)		probably null	Het
Coq2	A	T	5: 100,805,775 (GRCm39)	V287E	probably damaging	Het
Cpa6	T	C	1: 10,478,502 (GRCm39)	K278R	possibly damaging	Het
Cracdl	A	T	1: 37,670,556 (GRCm39)	I128K	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp3a25	A	T	5: 145,921,892 (GRCm39)	Y347*	probably null	Het
Dcun1d4	G	T	5: 73,691,971 (GRCm39)	W160L	probably damaging	Het
Dennd4c	A	G	4: 86,738,200 (GRCm39)	T994A	probably benign	Het
Dhx57	T	C	17: 80,582,760 (GRCm39)	T229A	probably benign	Het
Dnah6	T	A	6: 73,106,513 (GRCm39)	R1741S	probably damaging	Het
Dock1	T	A	7: 134,747,213 (GRCm39)	V1508D	probably damaging	Het
Donson	T	C	16: 91,484,721 (GRCm39)	T117A	possibly damaging	Het
Dtnb	A	G	12: 3,822,699 (GRCm39)	D533G	probably damaging	Het
Fcrl5	A	G	3: 87,364,495 (GRCm39)	N470S	probably damaging	Het
Focad	T	A	4: 88,275,706 (GRCm39)	V1105E	unknown	Het
Fry	T	C	5: 150,323,101 (GRCm39)	V1084A	probably benign	Het
Gabra1	G	T	11: 42,037,980 (GRCm39)	R213S	probably damaging	Het
Gbp2b	A	C	3: 142,317,171 (GRCm39)	K509T	probably benign	Het
Gprc6a	T	C	10: 51,491,104 (GRCm39)	T811A	probably benign	Het
Hmgcs2	A	G	3: 98,198,400 (GRCm39)	D101G	probably damaging	Het
Ifna11	G	A	4: 88,738,245 (GRCm39)	W17*	probably null	Het
Ighv1-62-3	T	A	12: 115,424,672 (GRCm39)	M100L	probably benign	Het
Lgmn	T	A	12: 102,368,936 (GRCm39)	Y181F	probably benign	Het
Map4k4	T	C	1: 40,043,076 (GRCm39)	S644P	probably benign	Het
Med9	T	A	11: 59,839,266 (GRCm39)	N58K	probably benign	Het
Nav1	C	T	1: 135,397,461 (GRCm39)	A903T	probably benign	Het
Nop53	T	C	7: 15,676,240 (GRCm39)	E153G	possibly damaging	Het
Nop56	G	T	2: 130,120,820 (GRCm39)	V190L	probably benign	Het
Nyap2	A	T	1: 81,247,112 (GRCm39)	M687L	probably benign	Het
Or4a81	G	A	2: 89,619,480 (GRCm39)	S72F	probably damaging	Het
Or8g17	T	C	9: 38,930,217 (GRCm39)	T207A	probably benign	Het
Or8g26	A	G	9: 39,095,908 (GRCm39)	T145A	probably benign	Het
Osbp2	T	C	11: 3,813,320 (GRCm39)	K183R	probably benign	Het
Pax1	A	G	2: 147,208,124 (GRCm39)	Q244R	possibly damaging	Het
Pcdh9	C	A	14: 94,124,851 (GRCm39)	V317F	probably damaging	Het
Pkhd1l1	A	T	15: 44,361,417 (GRCm39)	Q489L	probably damaging	Het
Poln	A	T	5: 34,286,675 (GRCm39)	S164R	probably benign	Het
Ptf1a	T	C	2: 19,450,762 (GRCm39)	S31P	probably benign	Het
Rasal3	A	T	17: 32,618,312 (GRCm39)	D164E	probably benign	Het
Rnf170	A	G	8: 26,630,891 (GRCm39)	E168G	probably damaging	Het
Rubcn	A	G	16: 32,656,778 (GRCm39)		probably null	Het
Sec16b	A	T	1: 157,389,094 (GRCm39)	T830S	possibly damaging	Het
Sel1l3	A	G	5: 53,289,175 (GRCm39)	V882A	probably benign	Het
Sfpq	A	G	4: 126,919,791 (GRCm39)	E512G	probably damaging	Het
Sh3pxd2a	A	G	19: 47,302,518 (GRCm39)	L187P	probably damaging	Het
Skint6	C	T	4: 113,095,533 (GRCm39)	G42D	possibly damaging	Het
Slc7a2	A	G	8: 41,367,023 (GRCm39)	I526V	probably benign	Het
Spmip7	T	C	11: 11,438,652 (GRCm39)		probably null	Het
Ssh2	A	T	11: 77,320,624 (GRCm39)	N328Y	probably damaging	Het
Taok2	G	A	7: 126,467,304 (GRCm39)	S167L	possibly damaging	Het
Tom1l2	A	G	11: 60,139,844 (GRCm39)	L275P	probably damaging	Het
Trgv5	A	G	13: 19,376,724 (GRCm39)	K57R	probably benign	Het
Tyrp1	C	T	4: 80,763,180 (GRCm39)	R356*	probably null	Het
Zan	A	G	5: 137,440,375 (GRCm39)	L1953P	unknown	Het
Zfhx3	T	C	8: 109,520,842 (GRCm39)	S655P	probably damaging	Het
Zmym1	T	C	4: 126,948,090 (GRCm39)	T94A	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
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'- CAAAGACTGGTGATATCCGAGG -3'
(R):5'- ACCAGGACTCTTTCAAAGTCAG -3'

Sequencing Primer
(F):5'- ACTGGTGATATCCGAGGAGATTTTG -3'
(R):5'- CAGGACTCTTTCAAAGTCAGTAAATG -3'

Posted On

2015-12-29