Incidental Mutation 'R0194:Pappa2'
ID 23250
Institutional Source Beutler Lab
Gene Symbol Pappa2
Ensembl Gene ENSMUSG00000073530
Gene Name pappalysin 2
Synonyms pregnancy-associated plasma preproprotein-A2, placenta-specific 3, pregnancy-associated plasma protein-E, PAPP-A2, PLAC3, Pappe
MMRRC Submission 038453-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0194 (G1)
Quality Score 188
Status Validated
Chromosome 1
Chromosomal Location 158711727-158980490 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 158765101 bp (GRCm38)
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
  • 1x: 98.6%
  • 3x: 97.3%
  • 10x: 91.4%
  • 20x: 70.1%
Validation Efficiency 91% (439/482)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik T A 4: 35,197,207 (GRCm38) D122V probably damaging Het
4930553M12Rik T A 4: 88,868,243 (GRCm38) D46V unknown Het
Abcb9 A G 5: 124,077,295 (GRCm38) V461A probably damaging Het
Ackr4 T A 9: 104,099,480 (GRCm38) L89F probably benign Het
Acsf2 T C 11: 94,561,370 (GRCm38) T449A probably benign Het
Acsl4 C G X: 142,333,718 (GRCm38) G489R probably damaging Het
Actl6a T A 3: 32,725,320 (GRCm38) I399N probably damaging Het
Adamts19 G A 18: 59,011,148 (GRCm38) C934Y probably null Het
Adsl A G 15: 80,961,360 (GRCm38) E40G possibly damaging Het
AI481877 T A 4: 59,066,534 (GRCm38) probably benign Het
Alppl2 T G 1: 87,088,743 (GRCm38) D203A probably damaging Het
Asb10 C A 5: 24,537,932 (GRCm38) A268S probably benign Het
Atp9a T C 2: 168,643,885 (GRCm38) S832G probably benign Het
Bckdha A T 7: 25,631,450 (GRCm38) I297N probably damaging Het
Blm G A 7: 80,464,946 (GRCm38) probably benign Het
Cacna1h A G 17: 25,380,924 (GRCm38) probably benign Het
Camsap2 G A 1: 136,292,948 (GRCm38) Q298* probably null Het
Ccdc38 A T 10: 93,565,912 (GRCm38) K145* probably null Het
Cfap45 C T 1: 172,541,327 (GRCm38) T434M probably benign Het
Cfap54 A T 10: 93,034,662 (GRCm38) probably benign Het
Clcn6 G A 4: 148,012,756 (GRCm38) P618L probably damaging Het
Copg1 T C 6: 87,904,197 (GRCm38) probably benign Het
Dctd T A 8: 48,112,078 (GRCm38) N79K probably benign Het
Dgkq A G 5: 108,654,644 (GRCm38) probably benign Het
Dntt A T 19: 41,038,970 (GRCm38) T159S possibly damaging Het
Doc2g G A 19: 4,003,656 (GRCm38) R29Q probably benign Het
Dsg3 A G 18: 20,540,142 (GRCm38) T957A probably damaging Het
Eif3c T A 7: 126,558,623 (GRCm38) probably benign Het
Ephb3 T A 16: 21,218,109 (GRCm38) D107E probably benign Het
Esrrb A T 12: 86,470,481 (GRCm38) D108V probably damaging Het
Exo1 A G 1: 175,892,030 (GRCm38) K214E probably damaging Het
Fam186a G A 15: 99,941,763 (GRCm38) T2200I possibly damaging Het
Fam227a C T 15: 79,640,669 (GRCm38) W194* probably null Het
Foxn4 A G 5: 114,259,748 (GRCm38) probably null Het
Gabbr2 T C 4: 46,787,565 (GRCm38) K366R possibly damaging Het
Garem2 T A 5: 30,113,930 (GRCm38) V130E probably damaging Het
Grin2b A G 6: 135,779,305 (GRCm38) F474S probably damaging Het
H2-M10.6 G T 17: 36,814,042 (GRCm38) V284F probably damaging Het
Helz2 C A 2: 181,232,759 (GRCm38) G1981C probably damaging Het
Hivep1 G T 13: 42,155,435 (GRCm38) V384F probably damaging Het
Hmox1 A G 8: 75,097,108 (GRCm38) T135A probably damaging Het
Hpse T C 5: 100,719,512 (GRCm38) D28G probably benign Het
Itm2b G T 14: 73,364,618 (GRCm38) D213E probably benign Het
Jakmip1 T A 5: 37,134,283 (GRCm38) M692K possibly damaging Het
Kdm3a T C 6: 71,624,594 (GRCm38) Q151R probably null Het
Limch1 C A 5: 66,999,273 (GRCm38) A517E probably benign Het
Lrit1 T A 14: 37,061,720 (GRCm38) L335Q probably damaging Het
Lrrc37a A G 11: 103,499,790 (GRCm38) V1603A possibly damaging Het
Mbtps1 T A 8: 119,535,369 (GRCm38) N347I probably damaging Het
Mier1 A T 4: 103,139,519 (GRCm38) probably null Het
Mt2 A T 8: 94,172,848 (GRCm38) M1L probably damaging Het
Mug1 A T 6: 121,840,107 (GRCm38) E45V probably damaging Het
Mybphl A G 3: 108,374,168 (GRCm38) K67E probably benign Het
Myh4 A G 11: 67,252,336 (GRCm38) K1030R probably damaging Het
Myl3 T A 9: 110,769,121 (GRCm38) D176E probably benign Het
Ncapg2 A G 12: 116,420,683 (GRCm38) probably null Het
Ndor1 T C 2: 25,248,706 (GRCm38) probably null Het
Nedd4 T G 9: 72,670,053 (GRCm38) N53K possibly damaging Het
Nek11 C A 9: 105,392,952 (GRCm38) A24S probably benign Het
Nudt19 G T 7: 35,551,514 (GRCm38) P267T probably benign Het
Olfml2b T C 1: 170,681,115 (GRCm38) M514T possibly damaging Het
Olfr304 A T 7: 86,386,374 (GRCm38) C95* probably null Het
Olfr424 A T 1: 174,136,761 (GRCm38) T6S probably benign Het
Olfr556 A G 7: 102,670,199 (GRCm38) D93G probably benign Het
Olfr699 C A 7: 106,790,823 (GRCm38) M59I probably benign Het
P3h1 T A 4: 119,237,952 (GRCm38) F302Y probably damaging Het
Pex2 A C 3: 5,561,364 (GRCm38) H128Q probably benign Het
Phf11d A C 14: 59,352,731 (GRCm38) L214R probably damaging Het
Plcg2 G A 8: 117,573,397 (GRCm38) probably benign Het
Ppargc1b A C 18: 61,307,945 (GRCm38) L634R possibly damaging Het
Prune1 A T 3: 95,262,360 (GRCm38) I177N probably damaging Het
Puf60 T C 15: 76,070,485 (GRCm38) D496G probably damaging Het
Rasl11b A G 5: 74,196,163 (GRCm38) probably null Het
Sdr42e1 A T 8: 117,663,109 (GRCm38) F264L probably damaging Het
Sec24b A T 3: 129,984,165 (GRCm38) probably null Het
Sgta G T 10: 81,051,059 (GRCm38) P79T probably benign Het
Shisa9 C T 16: 11,984,954 (GRCm38) T125M probably damaging Het
Slc12a2 A G 18: 57,930,211 (GRCm38) D921G probably damaging Het
Slc13a5 T A 11: 72,262,130 (GRCm38) I42L possibly damaging Het
Slc13a5 C T 11: 72,245,233 (GRCm38) V494I probably benign Het
Spire2 G A 8: 123,363,011 (GRCm38) probably benign Het
Sptbn4 G A 7: 27,404,911 (GRCm38) R962C probably benign Het
St8sia5 G A 18: 77,254,724 (GRCm38) V377I probably benign Het
Stag2 T G X: 42,206,137 (GRCm38) probably benign Het
Syne1 C A 10: 5,424,311 (GRCm38) M165I probably benign Het
Synm C A 7: 67,734,924 (GRCm38) V997L probably damaging Het
Tacc1 A G 8: 25,182,376 (GRCm38) S279P probably benign Het
Tbc1d10a T C 11: 4,212,901 (GRCm38) probably null Het
Tbc1d19 A G 5: 53,860,156 (GRCm38) T302A probably damaging Het
Tecpr1 A C 5: 144,218,517 (GRCm38) N74K probably damaging Het
Tmem120a T C 5: 135,742,398 (GRCm38) E28G possibly damaging Het
Tnfrsf1b A T 4: 145,224,812 (GRCm38) I186N probably benign Het
Trim55 A G 3: 19,661,861 (GRCm38) D195G probably benign Het
Trpm3 G T 19: 22,715,356 (GRCm38) probably null Het
Ttc39a T A 4: 109,444,179 (GRCm38) S571T probably benign Het
Vwf T G 6: 125,643,297 (GRCm38) I1646S probably benign Het
Wbp2nl T C 15: 82,314,282 (GRCm38) F340S possibly damaging Het
Yeats2 T C 16: 20,152,969 (GRCm38) M1T probably null Het
Zfp236 T A 18: 82,656,987 (GRCm38) E460V probably damaging Het
Zfp277 G A 12: 40,378,877 (GRCm38) probably benign Het
Zfp975 T A 7: 42,662,492 (GRCm38) K232N probably benign Het
Zxdc T C 6: 90,372,537 (GRCm38) probably benign Het
Other mutations in Pappa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Pappa2 APN 1 158,857,148 (GRCm38) missense probably damaging 1.00
IGL01394:Pappa2 APN 1 158,765,104 (GRCm38) splice site probably benign
IGL01570:Pappa2 APN 1 158,814,540 (GRCm38) nonsense probably null
IGL01618:Pappa2 APN 1 158,857,378 (GRCm38) missense probably damaging 1.00
IGL01717:Pappa2 APN 1 158,857,132 (GRCm38) critical splice donor site probably null
IGL01804:Pappa2 APN 1 158,936,519 (GRCm38) missense probably benign
IGL01904:Pappa2 APN 1 158,783,941 (GRCm38) missense probably damaging 0.99
IGL02116:Pappa2 APN 1 158,845,125 (GRCm38) missense probably benign 0.01
IGL02174:Pappa2 APN 1 158,761,618 (GRCm38) missense probably damaging 1.00
IGL02302:Pappa2 APN 1 158,715,001 (GRCm38) missense probably benign 0.38
IGL02422:Pappa2 APN 1 158,936,933 (GRCm38) missense probably damaging 1.00
IGL02572:Pappa2 APN 1 158,851,216 (GRCm38) missense probably benign
IGL02659:Pappa2 APN 1 158,936,794 (GRCm38) missense probably damaging 0.97
IGL02887:Pappa2 APN 1 158,782,259 (GRCm38) missense probably damaging 1.00
IGL02981:Pappa2 APN 1 158,851,144 (GRCm38) missense probably benign 0.00
IGL03128:Pappa2 APN 1 158,936,484 (GRCm38) missense probably benign 0.16
IGL03142:Pappa2 APN 1 158,854,931 (GRCm38) missense probably damaging 1.00
IGL03270:Pappa2 APN 1 158,765,067 (GRCm38) missense possibly damaging 0.78
Fritas UTSW 1 158,847,963 (GRCm38) missense possibly damaging 0.77
Gulliver UTSW 1 158,857,136 (GRCm38) missense probably null 1.00
Lilliputian UTSW 1 158,716,990 (GRCm38) missense probably damaging 1.00
Lilliputian2 UTSW 1 158,834,918 (GRCm38) nonsense probably null
lilliputian3 UTSW 1 158,782,403 (GRCm38) splice site probably null
Pitzel UTSW 1 158,956,645 (GRCm38) missense probably damaging 1.00
shrink UTSW 1 158,763,192 (GRCm38) missense probably damaging 1.00
R0106:Pappa2 UTSW 1 158,714,977 (GRCm38) missense probably damaging 1.00
R0106:Pappa2 UTSW 1 158,714,977 (GRCm38) missense probably damaging 1.00
R0172:Pappa2 UTSW 1 158,854,849 (GRCm38) critical splice donor site probably null
R0418:Pappa2 UTSW 1 158,716,990 (GRCm38) missense probably damaging 1.00
R0421:Pappa2 UTSW 1 158,848,080 (GRCm38) missense probably damaging 1.00
R0441:Pappa2 UTSW 1 158,763,058 (GRCm38) unclassified probably benign
R0602:Pappa2 UTSW 1 158,763,055 (GRCm38) unclassified probably benign
R0630:Pappa2 UTSW 1 158,832,773 (GRCm38) missense probably benign
R0760:Pappa2 UTSW 1 158,716,961 (GRCm38) critical splice donor site probably null
R1146:Pappa2 UTSW 1 158,854,982 (GRCm38) missense probably damaging 1.00
R1146:Pappa2 UTSW 1 158,854,982 (GRCm38) missense probably damaging 1.00
R1243:Pappa2 UTSW 1 158,845,100 (GRCm38) missense probably damaging 1.00
R1413:Pappa2 UTSW 1 158,936,554 (GRCm38) missense probably benign 0.00
R1502:Pappa2 UTSW 1 158,957,288 (GRCm38) missense probably damaging 1.00
R1599:Pappa2 UTSW 1 158,857,172 (GRCm38) missense probably damaging 1.00
R1689:Pappa2 UTSW 1 158,957,398 (GRCm38) missense probably damaging 1.00
R1750:Pappa2 UTSW 1 158,763,150 (GRCm38) nonsense probably null
R1772:Pappa2 UTSW 1 158,814,368 (GRCm38) missense possibly damaging 0.92
R1832:Pappa2 UTSW 1 158,857,316 (GRCm38) missense probably damaging 1.00
R1905:Pappa2 UTSW 1 158,803,503 (GRCm38) splice site probably null
R1914:Pappa2 UTSW 1 158,750,563 (GRCm38) missense probably damaging 0.97
R2013:Pappa2 UTSW 1 158,834,928 (GRCm38) missense probably damaging 1.00
R2037:Pappa2 UTSW 1 158,956,644 (GRCm38) nonsense probably null
R2118:Pappa2 UTSW 1 158,857,266 (GRCm38) missense probably damaging 1.00
R2268:Pappa2 UTSW 1 158,857,271 (GRCm38) missense probably damaging 1.00
R2269:Pappa2 UTSW 1 158,857,271 (GRCm38) missense probably damaging 1.00
R2347:Pappa2 UTSW 1 158,765,043 (GRCm38) missense probably damaging 1.00
R3024:Pappa2 UTSW 1 158,936,225 (GRCm38) missense probably benign 0.00
R3706:Pappa2 UTSW 1 158,834,918 (GRCm38) nonsense probably null
R3707:Pappa2 UTSW 1 158,834,918 (GRCm38) nonsense probably null
R3708:Pappa2 UTSW 1 158,834,918 (GRCm38) nonsense probably null
R4600:Pappa2 UTSW 1 158,814,445 (GRCm38) missense probably damaging 1.00
R4737:Pappa2 UTSW 1 158,957,012 (GRCm38) missense probably benign
R4738:Pappa2 UTSW 1 158,957,012 (GRCm38) missense probably benign
R4739:Pappa2 UTSW 1 158,957,002 (GRCm38) missense probably damaging 0.99
R4739:Pappa2 UTSW 1 158,957,012 (GRCm38) missense probably benign
R4788:Pappa2 UTSW 1 158,783,917 (GRCm38) missense possibly damaging 0.86
R4798:Pappa2 UTSW 1 158,857,379 (GRCm38) missense probably damaging 0.99
R4952:Pappa2 UTSW 1 158,857,136 (GRCm38) missense probably null 1.00
R5121:Pappa2 UTSW 1 158,838,627 (GRCm38) missense probably benign 0.01
R5144:Pappa2 UTSW 1 158,957,133 (GRCm38) missense probably benign 0.03
R5159:Pappa2 UTSW 1 158,761,619 (GRCm38) missense probably damaging 1.00
R5278:Pappa2 UTSW 1 158,782,403 (GRCm38) splice site probably null
R5428:Pappa2 UTSW 1 158,814,785 (GRCm38) missense possibly damaging 0.53
R5452:Pappa2 UTSW 1 158,838,602 (GRCm38) missense probably benign 0.00
R5477:Pappa2 UTSW 1 158,956,738 (GRCm38) missense probably benign 0.00
R5504:Pappa2 UTSW 1 158,848,045 (GRCm38) missense probably benign 0.00
R5852:Pappa2 UTSW 1 158,717,014 (GRCm38) missense probably damaging 1.00
R6003:Pappa2 UTSW 1 158,936,250 (GRCm38) missense probably benign 0.23
R6129:Pappa2 UTSW 1 158,714,997 (GRCm38) nonsense probably null
R6137:Pappa2 UTSW 1 158,871,543 (GRCm38) missense probably damaging 1.00
R6374:Pappa2 UTSW 1 158,956,645 (GRCm38) missense probably damaging 1.00
R6472:Pappa2 UTSW 1 158,834,799 (GRCm38) missense probably damaging 1.00
R6804:Pappa2 UTSW 1 158,936,868 (GRCm38) missense probably benign 0.24
R7020:Pappa2 UTSW 1 158,848,009 (GRCm38) missense probably damaging 0.98
R7051:Pappa2 UTSW 1 158,957,183 (GRCm38) missense unknown
R7082:Pappa2 UTSW 1 158,763,119 (GRCm38) missense possibly damaging 0.65
R7111:Pappa2 UTSW 1 158,956,526 (GRCm38) missense probably benign 0.38
R7213:Pappa2 UTSW 1 158,936,886 (GRCm38) missense possibly damaging 0.93
R7575:Pappa2 UTSW 1 158,814,530 (GRCm38) missense probably damaging 1.00
R7587:Pappa2 UTSW 1 158,851,131 (GRCm38) missense probably damaging 1.00
R7826:Pappa2 UTSW 1 158,936,440 (GRCm38) nonsense probably null
R7957:Pappa2 UTSW 1 158,761,561 (GRCm38) nonsense probably null
R8007:Pappa2 UTSW 1 158,782,304 (GRCm38) missense probably damaging 0.99
R8050:Pappa2 UTSW 1 158,848,400 (GRCm38) missense probably damaging 1.00
R8063:Pappa2 UTSW 1 158,936,556 (GRCm38) missense possibly damaging 0.79
R8068:Pappa2 UTSW 1 158,935,985 (GRCm38) missense possibly damaging 0.87
R8128:Pappa2 UTSW 1 158,936,664 (GRCm38) missense possibly damaging 0.75
R8264:Pappa2 UTSW 1 158,854,973 (GRCm38) missense probably damaging 1.00
R8317:Pappa2 UTSW 1 158,764,960 (GRCm38) missense probably damaging 1.00
R8499:Pappa2 UTSW 1 158,936,522 (GRCm38) missense probably damaging 1.00
R8744:Pappa2 UTSW 1 158,783,917 (GRCm38) missense possibly damaging 0.86
R8793:Pappa2 UTSW 1 158,851,161 (GRCm38) missense probably damaging 1.00
R8932:Pappa2 UTSW 1 158,763,192 (GRCm38) missense probably damaging 1.00
R9004:Pappa2 UTSW 1 158,936,948 (GRCm38) missense possibly damaging 0.67
R9004:Pappa2 UTSW 1 158,936,409 (GRCm38) missense probably damaging 1.00
R9088:Pappa2 UTSW 1 158,936,357 (GRCm38) missense probably damaging 1.00
R9191:Pappa2 UTSW 1 158,857,418 (GRCm38) missense probably damaging 1.00
R9243:Pappa2 UTSW 1 158,936,193 (GRCm38) missense probably damaging 0.99
R9280:Pappa2 UTSW 1 158,847,963 (GRCm38) missense possibly damaging 0.77
R9301:Pappa2 UTSW 1 158,845,044 (GRCm38) missense probably damaging 0.96
R9306:Pappa2 UTSW 1 158,936,922 (GRCm38) missense probably damaging 1.00
R9367:Pappa2 UTSW 1 158,956,972 (GRCm38) missense probably benign 0.40
R9471:Pappa2 UTSW 1 158,814,459 (GRCm38) missense probably benign 0.04
R9544:Pappa2 UTSW 1 158,957,247 (GRCm38) missense probably damaging 0.99
R9680:Pappa2 UTSW 1 158,782,248 (GRCm38) missense possibly damaging 0.78
R9762:Pappa2 UTSW 1 158,857,378 (GRCm38) missense probably damaging 1.00
R9774:Pappa2 UTSW 1 158,848,350 (GRCm38) missense probably damaging 0.99
R9776:Pappa2 UTSW 1 158,783,911 (GRCm38) missense probably damaging 1.00
X0058:Pappa2 UTSW 1 158,814,397 (GRCm38) missense probably null
X0061:Pappa2 UTSW 1 158,936,618 (GRCm38) missense possibly damaging 0.87
Z1176:Pappa2 UTSW 1 158,956,933 (GRCm38) missense probably benign
Z1176:Pappa2 UTSW 1 158,814,816 (GRCm38) missense probably damaging 1.00
Z1176:Pappa2 UTSW 1 158,814,814 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTGAGCACACACTGGCTGTC -3'
(R):5'- TCAATTTCATGGCCCACAATGGGAC -3'

Sequencing Primer
(F):5'- TGTCCAGCTTGAAGCCATCAG -3'
(R):5'- ctctctctctctctctctctctc -3'
Posted On 2013-04-16