Incidental Mutation 'IGL01394:Pappa2'
ID 79373
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01394
Quality Score
Status
Chromosome 1
Chromosomal Location 158539297-158788019 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 158592674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000159861]
AlphaFold E9PZ87
Predicted Effect probably benign
Transcript: ENSMUST00000159861
SMART Domains Protein: ENSMUSP00000124022
Gene: ENSMUSG00000073530

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
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik G A 7: 130,747,960 (GRCm39) Q11* probably null Het
Acot5 T C 12: 84,122,262 (GRCm39) I282T probably benign Het
Adcy2 A G 13: 69,130,521 (GRCm39) V122A probably damaging Het
Aldh16a1 A C 7: 44,794,937 (GRCm39) S511A probably benign Het
Arid3b T C 9: 57,702,317 (GRCm39) E480G probably damaging Het
Baz2a T C 10: 127,954,514 (GRCm39) V723A possibly damaging Het
Bmpr1b A G 3: 141,568,742 (GRCm39) probably null Het
Ccdc83 T C 7: 89,873,209 (GRCm39) E382G probably damaging Het
Cfap46 A G 7: 139,246,895 (GRCm39) Y349H probably damaging Het
Clpx T C 9: 65,217,495 (GRCm39) V21A probably damaging Het
Clstn1 A G 4: 149,719,239 (GRCm39) N356S possibly damaging Het
Ctnnd1 A G 2: 84,435,600 (GRCm39) probably benign Het
Dock1 A G 7: 134,367,945 (GRCm39) N505S probably benign Het
Eaf2 G A 16: 36,630,928 (GRCm39) P82S probably damaging Het
Fbxw26 T C 9: 109,547,057 (GRCm39) Y456C probably benign Het
Foxred2 T C 15: 77,839,820 (GRCm39) T157A probably benign Het
Fscb A T 12: 64,520,578 (GRCm39) I296K possibly damaging Het
Gad1-ps A G 10: 99,281,424 (GRCm39) noncoding transcript Het
Golgb1 A G 16: 36,751,926 (GRCm39) E3120G probably damaging Het
Ift140 A G 17: 25,313,676 (GRCm39) D1369G probably benign Het
Kcnk13 T C 12: 100,027,921 (GRCm39) V332A probably benign Het
Lama3 T A 18: 12,664,983 (GRCm39) D661E probably null Het
Lum A T 10: 97,404,834 (GRCm39) D243V probably damaging Het
Mgat4c A G 10: 102,220,975 (GRCm39) T86A possibly damaging Het
Mpdz A T 4: 81,210,728 (GRCm39) V1706D possibly damaging Het
Myrfl T C 10: 116,658,592 (GRCm39) Q455R probably benign Het
Or6k2 T C 1: 173,986,423 (GRCm39) F28S probably damaging Het
Or8c20 T A 9: 38,261,101 (GRCm39) S241T possibly damaging Het
Papolg G A 11: 23,817,235 (GRCm39) T654I probably benign Het
Plekhh2 C T 17: 84,864,858 (GRCm39) T82I probably benign Het
Prrc2a A G 17: 35,372,080 (GRCm39) V1773A probably benign Het
Psmb8 G T 17: 34,419,703 (GRCm39) V186L probably damaging Het
Rin3 T C 12: 102,339,862 (GRCm39) V604A probably damaging Het
Rtn1 T C 12: 72,355,190 (GRCm39) D252G probably benign Het
Sdk1 C T 5: 141,598,970 (GRCm39) H212Y probably benign Het
Slc5a5 G T 8: 71,342,032 (GRCm39) Y307* probably null Het
Slc9a9 T A 9: 95,005,090 (GRCm39) L499Q probably benign Het
Snx8 C A 5: 140,337,934 (GRCm39) G237V probably benign Het
Spata18 T A 5: 73,836,688 (GRCm39) probably null Het
Stard9 A G 2: 120,536,808 (GRCm39) E417G possibly damaging Het
Ubr5 T C 15: 38,009,875 (GRCm39) D1034G possibly damaging Het
Upf2 A G 2: 6,045,024 (GRCm39) probably null Het
Xrcc6 A G 15: 81,909,862 (GRCm39) K89R possibly damaging Het
Yeats2 T C 16: 19,980,782 (GRCm39) V237A probably damaging Het
Zdhhc6 A G 19: 55,298,324 (GRCm39) W178R probably benign Het
Zfp280b C A 10: 75,875,497 (GRCm39) Q459K probably damaging Het
Zfp811 C A 17: 33,016,794 (GRCm39) K414N probably damaging Het
Other mutations in Pappa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Pappa2 APN 1 158,684,718 (GRCm39) missense probably damaging 1.00
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 1 158,784,572 (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
Posted On 2013-11-05