Incidental Mutation 'R9774:Pappa2'
ID 733566
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9774 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 158539297-158788019 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 158675920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 942 (N942I)
Ref Sequence ENSEMBL: ENSMUSP00000124022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159861]
AlphaFold E9PZ87
Predicted Effect probably damaging
Transcript: ENSMUST00000159861
AA Change: N942I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124022
Gene: ENSMUSG00000073530
AA Change: N942I

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.3%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik A C 7: 30,399,261 (GRCm39) Q18H possibly damaging Het
Adam23 C T 1: 63,585,583 (GRCm39) T390I probably benign Het
Adh7 T A 3: 137,929,847 (GRCm39) C174* probably null Het
Brip1 A G 11: 86,077,838 (GRCm39) S197P possibly damaging Het
Ccdc146 G T 5: 21,506,247 (GRCm39) D731E probably benign Het
Cfi T C 3: 129,668,645 (GRCm39) V557A probably damaging Het
Col4a4 A T 1: 82,484,665 (GRCm39) probably null Het
Csnka2ip T C 16: 64,299,093 (GRCm39) I424V unknown Het
Cubn C T 2: 13,433,530 (GRCm39) V1127I probably benign Het
Ehhadh T C 16: 21,581,976 (GRCm39) T339A probably benign Het
Ezh2 T A 6: 47,519,315 (GRCm39) I506L probably benign Het
Fbxw21 T C 9: 108,991,057 (GRCm39) M1V probably null Het
Herc1 T A 9: 66,372,032 (GRCm39) V567E probably null Het
Hrh1 A T 6: 114,457,241 (GRCm39) E174V probably benign Het
Il12rb1 A G 8: 71,272,040 (GRCm39) S585G possibly damaging Het
Kcnq4 C A 4: 120,573,076 (GRCm39) A242S probably damaging Het
Ltbp3 A G 19: 5,804,014 (GRCm39) N842S probably benign Het
Mbd1 A G 18: 74,408,274 (GRCm39) Q309R probably benign Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mroh2b T C 15: 4,943,613 (GRCm39) I383T probably benign Het
Mrto4 T C 4: 139,075,287 (GRCm39) D172G probably benign Het
Muc2 T G 7: 141,285,811 (GRCm39) S19A probably benign Het
Ndufb2 T C 6: 39,575,301 (GRCm39) probably null Het
Npas3 A T 12: 53,994,108 (GRCm39) T246S probably damaging Het
Or8u8 C T 2: 86,012,015 (GRCm39) V147M possibly damaging Het
Pdzph1 A G 17: 59,281,751 (GRCm39) V177A probably benign Het
Rab5b A G 10: 128,522,658 (GRCm39) V41A probably benign Het
Rnf111 T C 9: 70,334,303 (GRCm39) D980G probably damaging Het
Rreb1 A G 13: 38,114,185 (GRCm39) T515A probably benign Het
Rsf1 GCGGC GCGGCGGCGTCGGC 7: 97,229,138 (GRCm39) probably benign Het
Serpinb13 T A 1: 106,923,579 (GRCm39) F95I probably benign Het
Sgsm3 C T 15: 80,890,673 (GRCm39) R76C possibly damaging Het
Slc1a1 C T 19: 28,870,283 (GRCm39) A94V probably damaging Het
Slc22a6 T C 19: 8,603,134 (GRCm39) V494A probably benign Het
Spag9 A G 11: 94,005,062 (GRCm39) E1182G probably damaging Het
Spata13 T C 14: 60,944,196 (GRCm39) S530P probably benign Het
Spatc1l A G 10: 76,405,168 (GRCm39) probably null Het
Spg11 A G 2: 121,938,965 (GRCm39) S330P probably damaging Het
Stau2 A T 1: 16,445,010 (GRCm39) M306K probably damaging Het
Tcea2 C T 2: 181,328,664 (GRCm39) T239I probably damaging Het
Tlcd2 A G 11: 75,359,131 (GRCm39) D34G probably damaging Het
Tmem132a C T 19: 10,842,904 (GRCm39) W190* probably null Het
Top3a C A 11: 60,638,998 (GRCm39) V551L probably damaging Het
Trpm1 G A 7: 63,898,041 (GRCm39) E1225K possibly damaging Het
Tti2 A G 8: 31,645,660 (GRCm39) H350R probably damaging Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Tyw3 T C 3: 154,302,584 (GRCm39) D27G probably damaging Het
Usp36 G A 11: 118,153,875 (GRCm39) A1012V probably damaging Het
Vmn2r14 G A 5: 109,369,126 (GRCm39) T149I probably benign Het
Vps13c T A 9: 67,791,873 (GRCm39) S380T 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
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
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'- GATGGTGAGCGGTATGTCAC -3'
(R):5'- TGGGAACAGACACTTTTGTTCTG -3'

Sequencing Primer
(F):5'- AGTGTTTAAAGGTCCAAGGTGC -3'
(R):5'- ACAGACACTTTTGTTCTGTGGAGAC -3'
Posted On 2022-11-14