Incidental Mutation 'R1599:Pappa2'
ID 175998
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 039636-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1599 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 158539297-158788019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 158684742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 799 (F799S)
Ref Sequence ENSEMBL: ENSMUSP00000124022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159861]
AlphaFold E9PZ87
Predicted Effect probably damaging
Transcript: ENSMUST00000159861
AA Change: F799S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124022
Gene: ENSMUSG00000073530
AA Change: F799S

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 88.9%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik A G 12: 71,197,033 (GRCm39) E202G probably damaging Het
Adam23 A G 1: 63,610,092 (GRCm39) D698G possibly damaging Het
Adam3 T C 8: 25,215,377 (GRCm39) D20G possibly damaging Het
Adamts12 T C 15: 11,071,797 (GRCm39) S114P probably damaging Het
Adgrg6 T A 10: 14,343,057 (GRCm39) R297* probably null Het
Ahdc1 A T 4: 132,792,247 (GRCm39) S1163C possibly damaging Het
Axl A G 7: 25,463,394 (GRCm39) Y619H probably damaging Het
Bcl11a G T 11: 24,113,887 (GRCm39) C410F probably damaging Het
Brca2 C A 5: 150,472,178 (GRCm39) S2359* probably null Het
Calca A G 7: 114,233,707 (GRCm39) S75P probably damaging Het
Ccn2 A T 10: 24,473,297 (GRCm39) R279W probably benign Het
Ccpg1 T A 9: 72,906,407 (GRCm39) Y54* probably null Het
Cfap161 A T 7: 83,425,287 (GRCm39) M268K possibly damaging Het
Cfap61 T A 2: 145,854,083 (GRCm39) V365E probably benign Het
Cgnl1 T C 9: 71,548,709 (GRCm39) I1000V probably benign Het
Chd2 A T 7: 73,122,799 (GRCm39) D978E probably benign Het
Cyth1 G A 11: 118,068,047 (GRCm39) T297M probably damaging Het
Dennd1b T G 1: 139,095,468 (GRCm39) D505E probably benign Het
Dgkd A G 1: 87,809,608 (GRCm39) T99A possibly damaging Het
Fam161a A T 11: 22,971,093 (GRCm39) M180L probably benign Het
Gar1 G T 3: 129,624,253 (GRCm39) R80S probably benign Het
Gm28042 T C 2: 119,866,944 (GRCm39) S419P probably benign Het
Gm5591 A C 7: 38,219,794 (GRCm39) C360G probably benign Het
Golga2 A G 2: 32,193,185 (GRCm39) H427R probably benign Het
Gpt2 A G 8: 86,238,863 (GRCm39) Y232C probably damaging Het
Hnrnpll T A 17: 80,361,054 (GRCm39) H118L unknown Het
Ice2 T A 9: 69,318,724 (GRCm39) C303S probably null Het
Ikzf3 C A 11: 98,357,919 (GRCm39) G473C probably damaging Het
Kansl3 A T 1: 36,406,951 (GRCm39) D38E probably damaging Het
Kcna6 A T 6: 126,716,282 (GRCm39) D202E probably benign Het
Klhl21 G A 4: 152,096,757 (GRCm39) G341D probably damaging Het
Klhl29 A T 12: 5,143,538 (GRCm39) V497D probably damaging Het
Kmt2b G A 7: 30,270,000 (GRCm39) L2449F probably damaging Het
Kmt5c A G 7: 4,744,899 (GRCm39) E10G probably damaging Het
Lama3 C T 18: 12,583,457 (GRCm39) Q682* probably null Het
Lamb3 T C 1: 193,002,801 (GRCm39) V82A probably damaging Het
Larp4b C T 13: 9,172,186 (GRCm39) T2I probably damaging Het
Man2a1 T C 17: 64,986,826 (GRCm39) Y613H possibly damaging Het
Mcm3 G A 1: 20,890,422 (GRCm39) T4I probably benign Het
Mki67 C T 7: 135,301,663 (GRCm39) A1124T probably benign Het
Mlh3 A T 12: 85,315,143 (GRCm39) L348I probably damaging Het
Mmrn1 G A 6: 60,922,021 (GRCm39) M159I probably benign Het
Muc5ac A T 7: 141,352,640 (GRCm39) Q709L possibly damaging Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Nosip A G 7: 44,723,430 (GRCm39) N32S probably benign Het
Npat T C 9: 53,473,704 (GRCm39) Y499H possibly damaging Het
Nt5c1b T A 12: 10,440,024 (GRCm39) I522N probably damaging Het
Or1j18 G T 2: 36,625,001 (GRCm39) V223F probably benign Het
Or2r3 T A 6: 42,448,176 (GRCm39) K312M probably damaging Het
Or52d3 A G 7: 104,228,855 (GRCm39) M1V probably null Het
Or7g32 T A 9: 19,389,517 (GRCm39) T7S probably damaging Het
Pate5 T C 9: 35,750,333 (GRCm39) N113S probably benign Het
Pcdha1 C T 18: 37,318,290 (GRCm39) T941M probably damaging Het
Pilrb2 A T 5: 137,866,859 (GRCm39) F215I possibly damaging Het
Pkd1l3 G T 8: 110,363,016 (GRCm39) M1092I probably benign Het
Ppp1r21 G T 17: 88,880,055 (GRCm39) V491L probably benign Het
Prickle2 T C 6: 92,387,855 (GRCm39) T516A probably benign Het
Prr27 G T 5: 87,991,084 (GRCm39) R232L probably benign Het
Rab3gap2 C T 1: 184,983,223 (GRCm39) T454I probably benign Het
Rgs11 C A 17: 26,427,223 (GRCm39) H385N probably damaging Het
S1pr5 T A 9: 21,155,230 (GRCm39) T399S probably benign Het
Sacs G A 14: 61,441,087 (GRCm39) M1044I probably benign Het
Sec31b T A 19: 44,511,592 (GRCm39) Q603L possibly damaging Het
Setx G A 2: 29,030,385 (GRCm39) E275K probably benign Het
Sh3tc1 G A 5: 35,864,856 (GRCm39) P444S probably benign Het
Shoc1 A T 4: 59,072,349 (GRCm39) N622K possibly damaging Het
Strn3 T A 12: 51,699,549 (GRCm39) N208Y possibly damaging Het
Tmem87a T C 2: 120,224,868 (GRCm39) N131S probably damaging Het
Tmprss13 T A 9: 45,249,616 (GRCm39) W318R probably damaging Het
Trabd2b T C 4: 114,266,178 (GRCm39) V64A probably damaging Het
Trafd1 A T 5: 121,517,720 (GRCm39) N24K probably damaging Het
Ttc41 T C 10: 86,612,437 (GRCm39) S1237P probably benign Het
Ttll1 A G 15: 83,381,555 (GRCm39) V238A probably benign Het
Vps50 T C 6: 3,565,537 (GRCm39) S492P probably benign Het
Zic1 T C 9: 91,243,741 (GRCm39) I409V probably benign Het
Other mutations in Pappa2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 1 158,784,572 (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'- AGATCTCAAGAGGGTTTCCAACTTTGC -3'
(R):5'- GTTGTCCTCAACCCAACCTATTATGGC -3'

Sequencing Primer
(F):5'- TTCAAGCTCTCATGGAAGAGAATCC -3'
(R):5'- TCATGATCCATGAGGTGGGAC -3'
Posted On 2014-04-24