Mutagenetix > Incidental Mutation

Incidental Mutation 'R8744:Pappa2'

663392

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 #

R8744 (G1)

Quality Score

225.009

Status

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

98% (64/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	C	A	11: 58,182,260 (GRCm39)		probably null	Het
Adam2	A	G	14: 66,272,165 (GRCm39)		probably null	Het
Akt2	A	T	7: 27,317,738 (GRCm39)	D94V	probably benign	Het
Anapc7	C	T	5: 122,566,211 (GRCm39)	S40L	probably benign	Het
Ash1l	G	T	3: 88,965,890 (GRCm39)	A2431S	possibly damaging	Het
Atoh1	A	T	6: 64,706,902 (GRCm39)	Q199L	probably damaging	Het
Atp10b	T	C	11: 43,121,177 (GRCm39)	C947R	probably damaging	Het
Ccdc50	G	A	16: 27,255,148 (GRCm39)	V199I	possibly damaging	Het
Ccne1	A	T	7: 37,802,598 (GRCm39)	C65S	probably benign	Het
Cep152	A	G	2: 125,436,791 (GRCm39)		probably null	Het
Col6a3	C	G	1: 90,695,328 (GRCm39)		probably benign	Het
Cyp4a10	A	G	4: 115,386,667 (GRCm39)	D438G	probably benign	Het
Dgkb	A	G	12: 38,488,611 (GRCm39)	H659R	probably damaging	Het
Dhx29	A	G	13: 113,089,418 (GRCm39)	I730V	possibly damaging	Het
Dync2h1	G	A	9: 7,011,220 (GRCm39)	Q3658*	probably null	Het
Eif2ak4	C	A	2: 118,261,474 (GRCm39)	C671*	probably null	Het
Eif4g3	AGCGGCGGCGGCGGCGGC	AGCGGCGGCGGCGGC	4: 137,721,372 (GRCm39)		probably benign	Het
Ep400	T	C	5: 110,889,925 (GRCm39)	H446R	unknown	Het
Epb41l2	C	T	10: 25,317,725 (GRCm39)	L81F	probably damaging	Het
Ercc8	G	A	13: 108,320,307 (GRCm39)	A298T	probably benign	Het
Fbxo10	T	C	4: 45,043,880 (GRCm39)	M648V	probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gnpda2	C	T	5: 69,735,459 (GRCm39)	A211T	probably damaging	Het
Gtf2h5	C	CA	17: 6,134,833 (GRCm39)		probably null	Het
Hormad1	T	C	3: 95,469,926 (GRCm39)	Y58H	possibly damaging	Het
Igkv4-81	T	C	6: 68,968,046 (GRCm39)	I18M	possibly damaging	Het
Itgav	G	T	2: 83,600,427 (GRCm39)	A312S	probably benign	Het
Itpr1	G	T	6: 108,354,763 (GRCm39)	A457S	possibly damaging	Het
Kcna10	T	C	3: 107,101,702 (GRCm39)	L111P	probably damaging	Het
Kcnh7	T	C	2: 63,012,433 (GRCm39)	R92G	possibly damaging	Het
Lamc2	G	A	1: 153,019,484 (GRCm39)	P486S	probably benign	Het
Lrba	C	T	3: 86,211,640 (GRCm39)	T420M	probably benign	Het
Lrrc52	G	A	1: 167,294,150 (GRCm39)	T45M	probably benign	Het
Lsm8	C	A	6: 18,853,638 (GRCm39)	A80E	probably benign	Het
Ly6g	T	A	15: 75,027,518 (GRCm39)	S9T	probably benign	Het
Mcc	A	G	18: 44,857,639 (GRCm39)	Y159H	probably benign	Het
Megf11	T	C	9: 64,451,970 (GRCm39)		probably null	Het
Mrpl9	T	A	3: 94,355,082 (GRCm39)		probably benign	Het
Ndst4	T	C	3: 125,506,989 (GRCm39)	F210L	possibly damaging	Het
Or13l2	A	G	3: 97,317,597 (GRCm39)	V300A	probably benign	Het
Or5d40	T	A	2: 88,015,723 (GRCm39)	C167*	probably null	Het
Pcdhga2	A	G	18: 37,804,373 (GRCm39)	H739R	probably benign	Het
Pcdhga8	A	G	18: 37,860,827 (GRCm39)	T628A	probably damaging	Het
Plekhn1	C	T	4: 156,318,364 (GRCm39)	R86H	probably damaging	Het
Pofut1	T	A	2: 153,101,461 (GRCm39)	W72R	probably benign	Het
Polr3b	C	A	10: 84,464,488 (GRCm39)		probably benign	Het
Rab3b	A	T	4: 108,781,184 (GRCm39)	I104F	probably damaging	Het
Rab5b	A	T	10: 128,518,751 (GRCm39)	V127D	probably damaging	Het
Rnf170	A	G	8: 26,619,408 (GRCm39)	M211V	unknown	Het
Rpl7	T	C	1: 16,172,113 (GRCm39)	T218A	probably benign	Het
Serinc2	T	C	4: 130,158,988 (GRCm39)		probably benign	Het
Socs2	T	A	10: 95,228,662 (GRCm39)	Q196L		Het
Stab2	T	C	10: 86,805,213 (GRCm39)	H255R	probably benign	Het
Syvn1	G	A	19: 6,099,198 (GRCm39)	G149D	probably damaging	Het
Them5	T	C	3: 94,253,472 (GRCm39)	S161P	probably damaging	Het
Tlr1	A	T	5: 65,083,873 (GRCm39)	Y235N	possibly damaging	Het
Toporsl	T	C	4: 52,611,967 (GRCm39)	L620P	probably benign	Het
Traf3	A	T	12: 111,228,230 (GRCm39)	E480D	probably benign	Het
Trav13n-4	A	G	14: 53,601,399 (GRCm39)	Y56C	probably damaging	Het
Trps1	T	C	15: 50,524,642 (GRCm39)	Y1096C	probably damaging	Het
Usp2	A	G	9: 43,998,510 (GRCm39)		probably benign	Het
Usp40	A	T	1: 87,911,491 (GRCm39)	L512Q	probably benign	Het
Vmn1r175	T	C	7: 23,508,403 (GRCm39)	T75A	probably benign	Het
Zan	A	G	5: 137,426,126 (GRCm39)	V2550A	unknown	Het
Zfp235	A	T	7: 23,839,924 (GRCm39)	E114D	possibly damaging	Het
Zmym1	A	T	4: 126,945,165 (GRCm39)	D141E	probably damaging	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
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
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'- ACTGGTGATATCCGAGGAGATTTTG -3'
(R):5'- CACCAGGACTCTTTCAAAGTCAG -3'

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

Posted On

2021-03-08