Incidental Mutation 'R5121:Pappa2'
ID 392975
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 042709-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5121 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 158711727-158980490 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 158838627 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 1128 (M1128L)
Ref Sequence ENSEMBL: ENSMUSP00000124022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159861]
AlphaFold E9PZ87
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159860
Predicted Effect probably benign
Transcript: ENSMUST00000159861
AA Change: M1128L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000124022
Gene: ENSMUSG00000073530
AA Change: M1128L

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: ENSMUST00000160206
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1c A G 2: 58,281,650 I234T probably damaging Het
Adam24 A G 8: 40,679,511 E6G probably damaging Het
Amz1 A G 5: 140,744,164 D151G probably benign Het
Arhgap24 T C 5: 102,841,335 L10P probably damaging Het
Arhgap25 T G 6: 87,532,864 N8T probably benign Het
Arsi T G 18: 60,917,439 F465V probably damaging Het
Atp2c1 A G 9: 105,448,825 V293A probably damaging Het
Bzw2 A G 12: 36,104,351 L340P probably damaging Het
Camkmt C T 17: 85,096,581 T77I probably benign Het
Camsap1 G T 2: 25,935,550 Q1375K probably benign Het
Catsper2 G T 2: 121,397,123 probably null Het
Cd163 T C 6: 124,317,989 C671R probably damaging Het
Cdk7 T C 13: 100,717,684 probably null Het
Cfi C T 3: 129,873,077 P483L probably damaging Het
Chn2 C T 6: 54,218,561 L72F possibly damaging Het
Cntn2 C A 1: 132,517,060 E363* probably null Het
Crebbp T C 16: 4,093,511 E999G probably damaging Het
Cspp1 T A 1: 10,126,463 N900K probably damaging Het
Cts3 A C 13: 61,567,595 I141M probably benign Het
Cwc27 A T 13: 104,804,353 V166D probably damaging Het
Defb26 T C 2: 152,508,165 E65G possibly damaging Het
Dnah8 A G 17: 30,810,353 T4099A probably benign Het
Eml6 A G 11: 29,744,606 F1953L probably benign Het
Etl4 T A 2: 20,340,111 probably null Het
Fbln1 A G 15: 85,237,671 E331G probably damaging Het
Gabra4 G A 5: 71,572,203 H76Y probably benign Het
Gcat T C 15: 79,035,282 V149A probably damaging Het
Glp2r A T 11: 67,722,100 probably null Het
Gm572 T C 4: 148,666,845 probably null Het
Golgb1 T C 16: 36,919,258 V2653A probably damaging Het
Grap2 G A 15: 80,646,144 R155Q possibly damaging Het
Gspt1 T A 16: 11,223,301 I533L probably damaging Het
Gypa A T 8: 80,496,348 Y27F unknown Het
Hipk4 G A 7: 27,529,492 V456I probably benign Het
Homer2 A T 7: 81,649,563 D51E probably benign Het
Hspa1b A T 17: 34,958,004 V335E possibly damaging Het
Ift122 A G 6: 115,912,534 T827A probably benign Het
Igkv1-35 T C 6: 70,011,135 N58S probably benign Het
Kat6b A T 14: 21,619,258 H297L probably damaging Het
Kirrel3 G T 9: 35,013,305 G296W probably damaging Het
Klhl17 A G 4: 156,230,625 V525A probably benign Het
Lrrn1 G T 6: 107,569,207 R655S possibly damaging Het
Ltk T C 2: 119,753,227 N256D probably damaging Het
Mill2 G A 7: 18,856,666 G209S probably benign Het
Mmp27 A T 9: 7,581,368 H544L probably benign Het
Mphosph10 A G 7: 64,389,596 S209P probably damaging Het
Mphosph8 A T 14: 56,676,546 K415* probably null Het
Myb T A 10: 21,126,238 M616L probably benign Het
Myo15b C T 11: 115,886,054 R867W probably damaging Het
Myo18b A T 5: 112,874,480 probably benign Het
Nip7 A G 8: 107,056,957 E8G possibly damaging Het
Olfr1318 A T 2: 112,156,286 M112L possibly damaging Het
Olfr368 T G 2: 37,332,589 F281V probably damaging Het
Olfr38 T A 6: 42,762,997 L315* probably null Het
Olfr677 A G 7: 105,056,482 T79A possibly damaging Het
Olfr711 T C 7: 106,972,231 I38V probably benign Het
Optn T A 2: 5,046,106 I155F probably benign Het
Papolb A T 5: 142,528,837 H350Q probably benign Het
Pcdhb5 T A 18: 37,321,117 N183K probably benign Het
Pde12 G T 14: 26,669,422 S44* probably null Het
Peg3 T C 7: 6,710,289 K645E probably benign Het
Pkd1 C T 17: 24,573,463 R1375C probably benign Het
Plekha5 G A 6: 140,579,474 E21K probably damaging Het
Plk2 C T 13: 110,399,424 P554L probably benign Het
Pnkp C T 7: 44,862,403 S113L probably damaging Het
Polg A T 7: 79,464,605 W203R probably damaging Het
Ppcdc A G 9: 57,421,163 V65A possibly damaging Het
Ppm1m T A 9: 106,195,805 Q353L probably benign Het
Ppp1r13l G C 7: 19,370,095 R167P probably damaging Het
Ppp1r9b T A 11: 94,996,653 V497E probably damaging Het
Prpf6 T A 2: 181,636,043 H399Q probably benign Het
Psg25 T A 7: 18,526,536 I146F possibly damaging Het
Rasgef1c A T 11: 49,960,429 Q116L probably damaging Het
Rbbp9 A G 2: 144,550,756 V8A possibly damaging Het
Rfk T C 19: 17,399,566 F144S probably damaging Het
Rfwd3 A C 8: 111,282,753 probably null Het
Rhpn1 T C 15: 75,709,260 I117T probably damaging Het
Sars2 A T 7: 28,747,908 N244Y probably damaging Het
Scnn1b A T 7: 121,902,887 H256L probably benign Het
Sgcz G A 8: 37,539,667 T195I probably damaging Het
Sh3gl2 T A 4: 85,379,257 H157Q probably benign Het
Spen T A 4: 141,476,099 Q1739L probably benign Het
Susd1 G T 4: 59,379,657 S323R possibly damaging Het
Szt2 T C 4: 118,385,444 E1482G possibly damaging Het
Tex15 A T 8: 33,571,766 K408I probably damaging Het
Tex33 C T 15: 78,386,173 E132K probably benign Het
Trem1 T A 17: 48,232,836 F14L probably null Het
Trim26 G T 17: 36,851,066 E126* probably null Het
Trpv3 T C 11: 73,277,834 probably null Het
Ttn T A 2: 76,916,491 probably null Het
Ubap1 C T 4: 41,379,688 L301F probably benign Het
Uchl1 T C 5: 66,676,437 M12T probably benign Het
Vill C T 9: 119,070,025 T253I possibly damaging Het
Vmn2r107 C T 17: 20,355,753 T115I probably benign Het
Vmn2r98 T C 17: 19,053,553 S21P probably benign Het
Wapl A G 14: 34,677,162 K63E probably benign Het
Wnt2 T C 6: 18,023,126 K175E possibly damaging Het
Zfp592 T C 7: 81,023,561 L91P probably damaging Het
Zfp74 T C 7: 29,932,507 probably null Het
Zglp1 A T 9: 21,062,661 I243N probably benign Het
Zranb1 A G 7: 132,950,187 E215G 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
R0194:Pappa2 UTSW 1 158,765,101 (GRCm38) splice site probably benign
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 1 158,957,012 (GRCm38) missense probably benign
R4739:Pappa2 UTSW 1 158,957,002 (GRCm38) missense probably damaging 0.99
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
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'- GCTTCAATCATCATTAAGACACAGGAC -3'
(R):5'- TAGGAATTCCCACAACACTCTG -3'

Sequencing Primer
(F):5'- TTAAGACACAGGACACTAACAGTTC -3'
(R):5'- AATACTAATCTACCATTTTGCTGACC -3'
Posted On 2016-06-15