Incidental Mutation 'R4737:Pappa2'
ID 359304
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 042024-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4737 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 158539297-158788019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 158784582 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 143 (R143G)
Ref Sequence ENSEMBL: ENSMUSP00000124022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159861]
AlphaFold E9PZ87
Predicted Effect probably benign
Transcript: ENSMUST00000159861
AA Change: R143G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124022
Gene: ENSMUSG00000073530
AA Change: R143G

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 noncoding transcript
Transcript: ENSMUST00000159892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177789
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 100% (94/94)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,055,384 (GRCm39) noncoding transcript Het
Acp2 A T 2: 91,041,068 (GRCm39) R419W probably benign Het
Actr5 A G 2: 158,469,991 (GRCm39) N207S probably damaging Het
Afap1 G A 5: 36,119,126 (GRCm39) V254M probably benign Het
Arfgef1 A T 1: 10,259,836 (GRCm39) M544K possibly damaging Het
Arhgap5 A T 12: 52,565,860 (GRCm39) M944L probably benign Het
Bnip3l-ps G A 12: 18,266,773 (GRCm39) noncoding transcript Het
Carf A G 1: 60,148,477 (GRCm39) T58A probably benign Het
Carns1 A G 19: 4,220,927 (GRCm39) probably benign Het
Ccp110 T A 7: 118,323,771 (GRCm39) I670K possibly damaging Het
Cftr T A 6: 18,299,882 (GRCm39) D1218E probably benign Het
Chrna9 A T 5: 66,125,214 (GRCm39) T52S probably damaging Het
Chst9 T C 18: 15,585,834 (GRCm39) Y243C probably damaging Het
Ciao3 A T 17: 26,000,283 (GRCm39) H322L probably damaging Het
Cilk1 A G 9: 78,057,936 (GRCm39) T162A probably damaging Het
Clk2 A T 3: 89,076,016 (GRCm39) H62L probably benign Het
Cntnap2 A T 6: 45,037,251 (GRCm39) R10W possibly damaging Het
Cpt1b C T 15: 89,305,609 (GRCm39) D369N probably benign Het
Crhr2 G T 6: 55,068,290 (GRCm39) H423Q probably damaging Het
D8Ertd738e T A 8: 84,976,150 (GRCm39) I33F probably damaging Het
Dbt T C 3: 116,332,781 (GRCm39) I200T probably damaging Het
Ddhd1 A T 14: 45,866,278 (GRCm39) probably benign Het
Ddx27 A G 2: 166,871,219 (GRCm39) I480V probably benign Het
Dpp9 A C 17: 56,505,970 (GRCm39) probably null Het
Dpy19l3 A T 7: 35,402,926 (GRCm39) M562K probably damaging Het
Dus3l T C 17: 57,074,868 (GRCm39) L330P probably damaging Het
Efcab7 C T 4: 99,719,805 (GRCm39) Q96* probably null Het
Egfr T C 11: 16,819,231 (GRCm39) F254L probably damaging Het
Eml5 C T 12: 98,765,111 (GRCm39) V1566M probably damaging Het
Entpd7 T A 19: 43,679,634 (GRCm39) Y62* probably null Het
Erbb4 T C 1: 68,383,059 (GRCm39) M313V probably damaging Het
Gm5528 A G 1: 72,043,711 (GRCm39) noncoding transcript Het
H2-M9 G T 17: 36,951,631 (GRCm39) Y281* probably null Het
Hmcn1 T G 1: 150,565,346 (GRCm39) K2260N possibly damaging Het
Hnf4a A G 2: 163,406,139 (GRCm39) I259V probably benign Het
Insm1 A T 2: 146,064,822 (GRCm39) T213S probably benign Het
Iqca1 T C 1: 90,005,544 (GRCm39) D488G probably damaging Het
Kdm5a T A 6: 120,382,976 (GRCm39) probably benign Het
Kdm7a G C 6: 39,129,773 (GRCm39) L468V possibly damaging Het
Lck G A 4: 129,449,777 (GRCm39) T229I possibly damaging Het
Lig3 T C 11: 82,678,553 (GRCm39) L265P probably damaging Het
Lipa T A 19: 34,479,034 (GRCm39) K229* probably null Het
Lrrk1 C T 7: 65,956,621 (GRCm39) S418N probably benign Het
Mark2 A G 19: 7,258,597 (GRCm39) V126A probably damaging Het
Met T C 6: 17,491,540 (GRCm39) C101R probably damaging Het
Mkln1 A T 6: 31,403,734 (GRCm39) K85M probably damaging Het
Mst1 A G 9: 107,957,720 (GRCm39) R15G probably benign Het
Muc6 T G 7: 141,226,426 (GRCm39) probably benign Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Myo7b T C 18: 32,131,655 (GRCm39) S514G probably damaging Het
Nars1 T C 18: 64,649,498 (GRCm39) E11G probably benign Het
Ogdh T A 11: 6,247,044 (GRCm39) F23I probably benign Het
Or10g9 A T 9: 39,911,718 (GRCm39) D268E probably damaging Het
Or12e9 T C 2: 87,202,665 (GRCm39) I263T probably damaging Het
Or4a39 C T 2: 89,236,830 (GRCm39) V198I probably benign Het
Or4b1b A G 2: 90,112,725 (GRCm39) S65P probably damaging Het
Or4c100 C T 2: 88,356,569 (GRCm39) S214F probably damaging Het
Or52r1c C T 7: 102,735,121 (GRCm39) A127V probably damaging Het
Or9k2 T A 10: 129,998,707 (GRCm39) T163S probably benign Het
Otub2 T A 12: 103,359,103 (GRCm39) L64Q probably benign Het
Patl2 T A 2: 121,955,787 (GRCm39) T250S probably damaging Het
Pcdhac2 C T 18: 37,278,952 (GRCm39) T644I possibly damaging Het
Pi4kb C T 3: 94,911,649 (GRCm39) T690I probably damaging Het
Pla2g4d T C 2: 120,097,271 (GRCm39) Y776C probably benign Het
Plekhh2 C T 17: 84,871,387 (GRCm39) S215L probably benign Het
Psmd2 T G 16: 20,478,565 (GRCm39) probably benign Het
Ptpn21 T C 12: 98,675,103 (GRCm39) E183G probably benign Het
Ptprg T A 14: 12,226,314 (GRCm38) D527E probably damaging Het
Rhobtb1 T A 10: 69,115,327 (GRCm39) probably null Het
Scel T A 14: 103,809,473 (GRCm39) M271K possibly damaging Het
Senp3 A T 11: 69,569,655 (GRCm39) C310* probably null Het
Slc25a3 T C 10: 90,958,050 (GRCm39) T97A possibly damaging Het
Srsf11 A T 3: 157,732,369 (GRCm39) Y82* probably null Het
Tbc1d8 G A 1: 39,441,959 (GRCm39) T211I possibly damaging Het
Tbkbp1 T C 11: 97,039,474 (GRCm39) E145G probably damaging Het
Tln1 T C 4: 43,540,588 (GRCm39) N1471S probably benign Het
Tnn T G 1: 159,973,659 (GRCm39) D236A probably damaging Het
Trmt2a C T 16: 18,069,150 (GRCm39) probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubxn10 G A 4: 138,463,259 (GRCm39) probably benign Het
Ulk4 G A 9: 120,902,938 (GRCm39) Q1180* probably null Het
Usp43 T A 11: 67,746,331 (GRCm39) K1120N probably damaging Het
Uspl1 T A 5: 149,131,149 (GRCm39) L244Q possibly damaging Het
Vmn1r32 T C 6: 66,530,629 (GRCm39) H49R probably damaging Het
Vmn2r4 T C 3: 64,317,384 (GRCm39) D118G probably damaging Het
Vwce A G 19: 10,627,943 (GRCm39) I468V probably benign Het
Zbtb7c G T 18: 76,279,225 (GRCm39) R561L probably benign Het
Zfp956 T C 6: 47,939,476 (GRCm39) S175P probably 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
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'- CTGGAAACCTTGAGGGGTATTC -3'
(R):5'- GCAGCAAACCCTGTATGCAG -3'

Sequencing Primer
(F):5'- GGGGTCTCCAGTCATGTCTTC -3'
(R):5'- CCCTGTATGCAGAATGGAGTC -3'
Posted On 2015-11-11