Incidental Mutation 'R7082:Pappa2'
ID 549574
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 045176-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7082 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 158539297-158788019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 158590689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 1655 (T1655I)
Ref Sequence ENSEMBL: ENSMUSP00000124022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159861]
AlphaFold E9PZ87
Predicted Effect possibly damaging
Transcript: ENSMUST00000159861
AA Change: T1655I

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124022
Gene: ENSMUSG00000073530
AA Change: T1655I

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
Predicted Effect probably benign
Transcript: ENSMUST00000161589
SMART Domains Protein: ENSMUSP00000124316
Gene: ENSMUSG00000073530

DomainStartEndE-ValueType
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 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (88/88)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik A T 6: 52,156,260 (GRCm39) N109Y unknown Het
A430005L14Rik C T 4: 154,044,221 (GRCm39) R11W probably damaging Het
Aadacl2 T A 3: 59,932,306 (GRCm39) S274T probably damaging Het
Ahctf1 T C 1: 179,602,898 (GRCm39) R887G probably benign Het
Aox4 G T 1: 58,263,352 (GRCm39) R158L possibly damaging Het
Atp10a T C 7: 58,308,567 (GRCm39) I122T probably damaging Het
Batf2 G T 19: 6,221,405 (GRCm39) A72S possibly damaging Het
Bltp3a G T 17: 28,109,039 (GRCm39) R1086L probably damaging Het
Bptf T C 11: 106,977,573 (GRCm39) D749G probably benign Het
Cacybp A G 1: 160,031,229 (GRCm39) Y200H probably damaging Het
Cdc40 A T 10: 40,743,869 (GRCm39) V76D probably benign Het
Cdc42ep4 T C 11: 113,619,944 (GRCm39) D149G probably benign Het
Chtop A G 3: 90,414,891 (GRCm39) V9A probably benign Het
Cnot9 A G 1: 74,566,165 (GRCm39) I185M probably damaging Het
Col6a5 A G 9: 105,808,438 (GRCm39) I870T unknown Het
Cr1l A G 1: 194,806,006 (GRCm39) I159T probably benign Het
Cthrc1 T C 15: 38,940,495 (GRCm39) S33P probably benign Het
Dlg2 T A 7: 90,381,192 (GRCm39) W44R probably benign Het
Dlgap4 T C 2: 156,590,342 (GRCm39) probably null Het
Dna2 A G 10: 62,790,096 (GRCm39) H193R possibly damaging Het
Espnl T A 1: 91,262,521 (GRCm39) F322Y probably benign Het
Fam171a1 G A 2: 3,224,512 (GRCm39) V293I probably benign Het
Fam76b A G 9: 13,744,308 (GRCm39) Y135C probably damaging Het
Flvcr2 A T 12: 85,793,728 (GRCm39) I35F probably benign Het
Gm9195 T A 14: 72,680,152 (GRCm39) Q2219L probably benign Het
Gnptg T C 17: 25,453,694 (GRCm39) T283A probably benign Het
Grap2 G A 15: 80,532,699 (GRCm39) V289M probably benign Het
Hk3 T C 13: 55,154,710 (GRCm39) T767A probably benign Het
Hs3st5 A G 10: 36,708,833 (GRCm39) I123V probably benign Het
Il6st A G 13: 112,640,566 (GRCm39) T781A probably damaging Het
Inpp5d T A 1: 87,623,102 (GRCm39) H398Q probably damaging Het
Kcnk1 A G 8: 126,722,287 (GRCm39) Y30C probably damaging Het
Klhl6 T C 16: 19,801,633 (GRCm39) T41A probably benign Het
Krt14 G A 11: 100,094,167 (GRCm39) H476Y possibly damaging Het
Lingo3 G C 10: 80,671,625 (GRCm39) R102G probably benign Het
Map3k9 G A 12: 81,771,476 (GRCm39) T704M probably damaging Het
Mdn1 C A 4: 32,762,341 (GRCm39) N5088K probably benign Het
Mmp9 T A 2: 164,790,812 (GRCm39) S67T probably benign Het
Mrps18c A G 5: 100,952,270 (GRCm39) E143G probably damaging Het
Msantd5f9 G T 4: 73,835,808 (GRCm39) L219M probably benign Het
Muc21 A T 17: 35,932,093 (GRCm39) S698T unknown Het
Nags C A 11: 102,038,298 (GRCm39) R335S possibly damaging Het
Nars1 A G 18: 64,637,425 (GRCm39) V385A possibly damaging Het
Nipal2 A C 15: 34,584,809 (GRCm39) V253G possibly damaging Het
Nos2 C A 11: 78,819,405 (GRCm39) T39K probably benign Het
Or10p1 T A 10: 129,443,416 (GRCm39) *311Y probably null Het
Or10p1 T A 10: 129,443,417 (GRCm39) *311L probably null Het
Or51t4 T C 7: 102,598,455 (GRCm39) V261A probably damaging Het
Or52s19 C A 7: 103,007,495 (GRCm39) R302L possibly damaging Het
Or6c66 C T 10: 129,461,634 (GRCm39) V99M probably benign Het
Or9s15 G A 1: 92,524,140 (GRCm39) probably benign Het
Panx3 G A 9: 37,577,913 (GRCm39) P106S probably benign Het
Pcdhb1 A G 18: 37,400,044 (GRCm39) D665G probably damaging Het
Pde2a T C 7: 101,157,303 (GRCm39) L676P probably damaging Het
Pf4 A G 5: 90,920,851 (GRCm39) T60A possibly damaging Het
Pira12 C T 7: 3,898,510 (GRCm39) V313M probably damaging Het
Pld5 A T 1: 175,917,442 (GRCm39) C164S probably benign Het
Psd3 A T 8: 68,356,800 (GRCm39) M640K probably benign Het
Ptf1a A G 2: 19,450,676 (GRCm39) D2G possibly damaging Het
Ptprq C T 10: 107,544,591 (GRCm39) C313Y probably benign Het
Ranbp10 A G 8: 106,500,578 (GRCm39) S467P probably damaging Het
Rap1gap C T 4: 137,446,247 (GRCm39) T333M probably damaging Het
Rfpl4 A G 7: 5,118,558 (GRCm39) L4P probably benign Het
Rgs12 A G 5: 35,124,050 (GRCm39) N611S probably benign Het
Sacs C A 14: 61,447,966 (GRCm39) N3337K possibly damaging Het
Sbno2 A T 10: 79,895,924 (GRCm39) probably null Het
Scrn2 T A 11: 96,923,908 (GRCm39) V264E possibly damaging Het
Serpinb9c T A 13: 33,338,390 (GRCm39) I198L probably benign Het
Shank2 T C 7: 143,964,096 (GRCm39) F568S probably damaging Het
Slc47a1 C T 11: 61,268,767 (GRCm39) R36Q probably benign Het
Slc4a8 A C 15: 100,688,908 (GRCm39) E406A probably damaging Het
Speg C T 1: 75,388,091 (GRCm39) T1483I probably damaging Het
Srbd1 A G 17: 86,365,160 (GRCm39) V632A probably damaging Het
Srd5a2 A T 17: 74,328,515 (GRCm39) Y188N probably damaging Het
Sspo A T 6: 48,455,543 (GRCm39) probably null Het
Ssx2ip A T 3: 146,136,703 (GRCm39) D317V probably benign Het
Tmco3 G T 8: 13,370,847 (GRCm39) E172* probably null Het
Trpc4 G A 3: 54,206,519 (GRCm39) W573* probably null Het
Ttn T C 2: 76,580,340 (GRCm39) I23518V probably benign Het
Tubal3 A G 13: 3,983,050 (GRCm39) T277A possibly damaging Het
Unc5b A T 10: 60,610,867 (GRCm39) L391H probably damaging Het
Vmn2r76 A G 7: 85,874,440 (GRCm39) F846L probably benign Het
Vps13c T A 9: 67,790,735 (GRCm39) Y338N probably damaging Het
Zc3hav1 G T 6: 38,309,328 (GRCm39) S498* probably null Het
Zfand4 T A 6: 116,305,337 (GRCm39) probably null Het
Zfp451 A T 1: 33,811,972 (GRCm39) probably null Het
Zfp607a A T 7: 27,578,183 (GRCm39) I418F probably damaging Het
Zfp612 A G 8: 110,816,337 (GRCm39) T515A probably damaging Het
Zfp708 G T 13: 67,219,200 (GRCm39) L208I possibly damaging 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
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
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'- TCTGCAACAGAAGAGGTTATACAGG -3'
(R):5'- GCCCAAGTTCCAGAAGTTAAAGG -3'

Sequencing Primer
(F):5'- AGGAGGCCTGCATCATGTG -3'
(R):5'- TTGATATTCTAGATTCCCATCC -3'
Posted On 2019-05-15