Mutagenetix > Incidental Mutation

Incidental Mutation 'R8932:Pappa2'

690196

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

068776-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8932 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

158539297-158788019 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 158590762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 1631 (C1631S)

Ref Sequence

ENSEMBL: ENSMUSP00000124022 (fasta)

Gene Model

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

AlphaFold

E9PZ87

Predicted Effect

probably damaging
Transcript: ENSMUST00000159861
AA Change: C1631S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124022
Gene: ENSMUSG00000073530
AA Change: C1631S

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 benign
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

0.9540

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	G	T	8: 44,105,192 (GRCm39)	T151K	probably benign	Het
Adnp2	C	T	18: 80,185,893 (GRCm39)	G27S	probably damaging	Het
Ank3	A	G	10: 69,660,292 (GRCm39)	M265V	probably benign	Het
Aoc1l1	G	A	6: 48,952,428 (GRCm39)	E118K	probably damaging	Het
Apoe	T	C	7: 19,430,597 (GRCm39)	D215G	possibly damaging	Het
Atp5f1b	A	G	10: 127,924,850 (GRCm39)	I438V	probably benign	Het
Bckdha	A	G	7: 25,330,436 (GRCm39)	S387P	probably damaging	Het
Camkk1	T	C	11: 72,924,734 (GRCm39)	F316L	probably damaging	Het
Carmil1	A	G	13: 24,197,179 (GRCm39)	Y158H		Het
Ccdc148	T	C	2: 58,894,054 (GRCm39)	R29G	probably benign	Het
Ccdc39	A	G	3: 33,884,274 (GRCm39)	V356A	probably benign	Het
Cdan1	G	A	2: 120,561,568 (GRCm39)	Q66*	probably null	Het
Ckap4	A	T	10: 84,364,290 (GRCm39)	S258T	probably benign	Het
Col5a2	T	C	1: 45,419,306 (GRCm39)	D1258G	probably benign	Het
Col6a1	G	A	10: 76,552,593 (GRCm39)	P431L	unknown	Het
Cplane1	A	G	15: 8,223,859 (GRCm39)	Y874C	probably damaging	Het
Csn1s2a	A	G	5: 87,933,164 (GRCm39)	I138V	probably benign	Het
Cyp19a1	C	T	9: 54,083,861 (GRCm39)	G176D	probably benign	Het
Dnah10	A	G	5: 124,878,015 (GRCm39)	E2700G	possibly damaging	Het
Eif3l	T	A	15: 78,960,006 (GRCm39)	Y23*	probably null	Het
Fam72a	A	G	1: 131,456,502 (GRCm39)	K22E	probably benign	Het
Golim4	A	G	3: 75,805,351 (GRCm39)	V258A	probably benign	Het
Gtf2ird2	C	T	5: 134,237,739 (GRCm39)	A272V	probably benign	Het
Hpse	T	C	5: 100,846,872 (GRCm39)	T186A	possibly damaging	Het
Ift140	A	T	17: 25,305,862 (GRCm39)	Q816H	probably benign	Het
Iqca1	A	T	1: 90,067,750 (GRCm39)	I167N	probably damaging	Het
Iqgap1	A	T	7: 80,401,141 (GRCm39)	F515L	probably benign	Het
Itgb4	G	A	11: 115,879,295 (GRCm39)	R558H	probably benign	Het
Kcna10	G	A	3: 107,101,419 (GRCm39)	D17N	probably damaging	Het
Kcnj16	A	G	11: 110,915,829 (GRCm39)	I164V	probably damaging	Het
Lrrc55	G	T	2: 85,026,615 (GRCm39)	N136K	probably damaging	Het
Mdm4	A	T	1: 132,940,382 (GRCm39)	M50K	probably benign	Het
Mfge8	A	G	7: 78,786,530 (GRCm39)	S290P	probably damaging	Het
Mindy4	G	A	6: 55,201,115 (GRCm39)	D267N	probably benign	Het
Mllt10	T	A	2: 18,128,617 (GRCm39)	S199R	probably benign	Het
Mms22l	T	C	4: 24,533,029 (GRCm39)	S436P	probably damaging	Het
Mpped2	A	G	2: 106,697,395 (GRCm39)	N290S	possibly damaging	Het
Mrgpra2a	A	G	7: 47,076,445 (GRCm39)	L271P	probably benign	Het
Myrf	T	A	19: 10,200,931 (GRCm39)	E247D	probably benign	Het
Ndrg3	A	G	2: 156,782,299 (GRCm39)	I189T	possibly damaging	Het
Nenf	C	T	1: 191,050,148 (GRCm39)	E48K	probably benign	Het
Nlgn2	T	A	11: 69,718,994 (GRCm39)	N232Y	probably damaging	Het
Oog2	G	T	4: 143,920,685 (GRCm39)	M39I	probably benign	Het
Or9r7	A	T	10: 129,962,631 (GRCm39)	N98K	probably benign	Het
Osbpl3	A	T	6: 50,304,371 (GRCm39)	N461K	probably benign	Het
P4ha1	A	G	10: 59,175,130 (GRCm39)	D30G	possibly damaging	Het
Pigk	A	G	3: 152,445,871 (GRCm39)	M161V	possibly damaging	Het
Prdm1	G	T	10: 44,317,335 (GRCm39)	S496Y	probably damaging	Het
Prkg2	T	C	5: 99,095,299 (GRCm39)	N624S	possibly damaging	Het
Rgs6	A	G	12: 83,112,733 (GRCm39)	D181G	probably damaging	Het
Sbf2	A	G	7: 110,040,155 (GRCm39)		probably null	Het
Sbno2	A	C	10: 79,898,042 (GRCm39)	L728W	probably damaging	Het
Selenbp2	A	T	3: 94,609,793 (GRCm39)	I310F	probably damaging	Het
Shank3	T	A	15: 89,432,986 (GRCm39)	W1244R	possibly damaging	Het
Slc34a1	A	C	13: 24,004,184 (GRCm39)	I395L	probably benign	Het
Slf1	A	T	13: 77,194,693 (GRCm39)	D877E	probably damaging	Het
Smtn	T	C	11: 3,472,908 (GRCm39)	S255G	probably benign	Het
Tbx2	T	A	11: 85,725,533 (GRCm39)	D161E	probably damaging	Het
Tex14	C	A	11: 87,324,675 (GRCm39)	L26M	possibly damaging	Het
Traf7	A	G	17: 24,731,286 (GRCm39)	F249S	probably damaging	Het
Trpm6	A	G	19: 18,815,366 (GRCm39)	K1151E	possibly damaging	Het
Ttc7b	A	G	12: 100,268,022 (GRCm39)	V773A	probably benign	Het
Ttn	G	A	2: 76,747,912 (GRCm39)	T4379I	probably benign	Het
Ttn	G	A	2: 76,602,854 (GRCm39)	T18456I	probably damaging	Het
Ttn	G	C	2: 76,709,171 (GRCm39)	L8703V	unknown	Het
Ubb	T	A	11: 62,442,979 (GRCm39)	I3N	probably damaging	Het
Vmn1r209	A	T	13: 22,990,343 (GRCm39)	W116R	probably damaging	Het
Vmn1r75	A	G	7: 11,614,838 (GRCm39)	D190G	probably damaging	Het
Wdr12	T	A	1: 60,130,202 (GRCm39)	M70L	probably benign	Het
Wdr48	C	A	9: 119,740,142 (GRCm39)	T317K	probably damaging	Het
Zbtb5	A	G	4: 44,993,962 (GRCm39)	V474A	probably benign	Het
Zfp128	C	T	7: 12,625,113 (GRCm39)	R494C	possibly 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
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
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'- TCCGAGTCCTAAAGCAAAGAGG -3'
(R):5'- AAGAGCTTGTCTTAGGTTCCCTG -3'

Sequencing Primer
(F):5'- AGGGTGACATGAACAGATCTC -3'
(R):5'- CTGGGAATTGAACTCAGGACCTCTG -3'

Posted On

2021-11-19