Incidental Mutation 'R7165:Pappa'
ID 557857
Institutional Source Beutler Lab
Gene Symbol Pappa
Ensembl Gene ENSMUSG00000028370
Gene Name pregnancy-associated plasma protein A
Synonyms PAPP-A, PAG1, 8430414N03Rik, IGFBP-4ase
MMRRC Submission 045262-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7165 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 65042411-65275746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65180110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 990 (H990Q)
Ref Sequence ENSEMBL: ENSMUSP00000081545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084501]
AlphaFold Q8R4K8
Predicted Effect probably damaging
Transcript: ENSMUST00000084501
AA Change: H990Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081545
Gene: ENSMUSG00000028370
AA Change: H990Q

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 24 66 N/A INTRINSIC
low complexity region 69 87 N/A INTRINSIC
LamGL 114 263 1.55e-54 SMART
NL 396 438 4.15e-8 SMART
NL 441 471 6.73e-1 SMART
Pfam:Peptidase_M43 500 657 2.5e-10 PFAM
Blast:FN3 669 929 1e-165 BLAST
CCP 1212 1277 1.39e-9 SMART
CCP 1282 1339 1.08e-6 SMART
CCP 1343 1407 1.64e-6 SMART
CCP 1412 1468 8.06e-6 SMART
NL 1544 1581 3.24e-10 SMART
low complexity region 1584 1591 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (79/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). It is thought to be involved in local proliferative processes such as wound healing and bone remodeling. Low plasma level of this protein has been suggested as a biochemical marker for pregnancies with aneuploid fetuses. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are smaller than normal with delayed ossification, but are otherwise normal and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl C A 2: 127,965,028 (GRCm39) A624E probably benign Het
Adnp A G 2: 168,024,287 (GRCm39) S1003P probably benign Het
Akap8l T C 17: 32,557,386 (GRCm39) D75G probably damaging Het
Ap4e1 A T 2: 126,905,238 (GRCm39) T970S possibly damaging Het
Asb3 T A 11: 30,979,029 (GRCm39) N106K probably damaging Het
Atp1a3 T C 7: 24,678,390 (GRCm39) I988V probably benign Het
Camta1 A G 4: 151,169,157 (GRCm39) L198S possibly damaging Het
Ccdc77 A G 6: 120,327,193 (GRCm39) L84P probably damaging Het
Ccne1 C T 7: 37,798,726 (GRCm39) A298T probably damaging Het
Cdc42bpb T A 12: 111,287,951 (GRCm39) E532V probably damaging Het
Clasp2 G A 9: 113,615,467 (GRCm39) probably null Het
Cntnap5b C A 1: 100,003,887 (GRCm39) T289N possibly damaging Het
Dcun1d4 A G 5: 73,648,538 (GRCm39) probably null Het
Dnah14 A G 1: 181,532,100 (GRCm39) T2296A probably benign Het
Dnaja4 A T 9: 54,616,516 (GRCm39) Q173L probably damaging Het
Dync2h1 G A 9: 7,050,479 (GRCm39) A3190V probably benign Het
Frrs1 T A 3: 116,671,920 (GRCm39) I6N probably benign Het
Fscn1 T C 5: 142,957,801 (GRCm39) V477A probably benign Het
Fsip2 G A 2: 82,811,541 (GRCm39) G2620E possibly damaging Het
Glp1r C T 17: 31,128,297 (GRCm39) A92V probably benign Het
Gpr137b A T 13: 13,542,205 (GRCm39) M204K probably damaging Het
Gstm1 A G 3: 107,923,693 (GRCm39) V104A probably benign Het
Gtf2e1 A T 16: 37,356,228 (GRCm39) N101K probably damaging Het
Igsf9b T C 9: 27,245,536 (GRCm39) F1168L probably benign Het
Itpr2 A T 6: 146,195,589 (GRCm39) V1629E probably damaging Het
Kat14 A G 2: 144,235,918 (GRCm39) T428A probably benign Het
Kif21b T C 1: 136,077,186 (GRCm39) Y403H probably damaging Het
Lpcat1 G C 13: 73,662,649 (GRCm39) A533P probably benign Het
Lrp2 A T 2: 69,336,917 (GRCm39) I1285N probably damaging Het
Mboat1 A T 13: 30,408,398 (GRCm39) Y187F probably damaging Het
Mkx T C 18: 7,002,525 (GRCm39) N7S probably damaging Het
Mrps27 A T 13: 99,551,307 (GRCm39) T357S possibly damaging Het
Muc21 A G 17: 35,932,870 (GRCm39) S439P unknown Het
Naa35 A G 13: 59,733,997 (GRCm39) D9G probably benign Het
Ncoa4 T A 14: 31,897,940 (GRCm39) N253K probably damaging Het
Neb A G 2: 52,160,318 (GRCm39) Y2232H probably damaging Het
Nlk G A 11: 78,481,793 (GRCm39) Q223* probably null Het
Npas2 T A 1: 39,331,798 (GRCm39) I71N possibly damaging Het
Nup107 T A 10: 117,609,267 (GRCm39) Q364L probably damaging Het
Or8g17 T A 9: 38,934,566 (GRCm39) probably benign Het
Otof C T 5: 30,532,964 (GRCm39) G1593S probably damaging Het
Panx3 G T 9: 37,575,381 (GRCm39) H160Q probably damaging Het
Pax4 G A 6: 28,446,136 (GRCm39) P119L probably damaging Het
Pcdhb20 T A 18: 37,638,123 (GRCm39) D216E probably damaging Het
Pcdhgb8 T A 18: 37,896,231 (GRCm39) S434T possibly damaging Het
Pf4 T C 5: 90,920,448 (GRCm39) V3A probably benign Het
Phf24 T C 4: 42,938,325 (GRCm39) S229P probably benign Het
Plcd3 A G 11: 102,970,439 (GRCm39) F200S probably damaging Het
Ppp1r16a A G 15: 76,575,104 (GRCm39) H4R probably damaging Het
Pramel15 A G 4: 144,099,389 (GRCm39) C459R probably damaging Het
Prdm10 A G 9: 31,227,738 (GRCm39) probably null Het
Prim2 A G 1: 33,667,474 (GRCm39) probably null Het
Prkg1 T A 19: 30,562,599 (GRCm39) H550L probably damaging Het
Prrc2c G T 1: 162,501,086 (GRCm39) T2809N possibly damaging Het
Ptx3 A G 3: 66,132,391 (GRCm39) E304G probably benign Het
Ralgps2 A G 1: 156,655,818 (GRCm39) F369L probably benign Het
Rasgrp1 G A 2: 117,168,885 (GRCm39) T31I probably benign Het
Rbsn A T 6: 92,168,315 (GRCm39) M373K probably benign Het
Rnf168 C G 16: 32,101,179 (GRCm39) R120G probably benign Het
Rp1 A G 1: 4,420,140 (GRCm39) I324T probably damaging Het
Samd11 T C 4: 156,336,747 (GRCm39) S31G probably benign Het
Sart3 A T 5: 113,884,056 (GRCm39) L652Q probably benign Het
Scrn2 A G 11: 96,924,634 (GRCm39) E421G probably benign Het
Sik2 A T 9: 50,828,397 (GRCm39) L215Q probably damaging Het
Speer4a3 AACT A 5: 26,155,849 (GRCm39) probably benign Het
Stard9 A T 2: 120,534,639 (GRCm39) K3632M probably damaging Het
Swt1 A T 1: 151,264,428 (GRCm39) D695E probably damaging Het
Tead3 T A 17: 28,552,228 (GRCm39) M357L probably benign Het
Tgfbi A T 13: 56,775,829 (GRCm39) T292S probably damaging Het
Tmc7 T C 7: 118,155,157 (GRCm39) H247R probably benign Het
Trmt10b T A 4: 45,308,549 (GRCm39) D236E probably damaging Het
Tshz1 C A 18: 84,034,052 (GRCm39) V119L probably damaging Het
Ttn A C 2: 76,658,258 (GRCm39) V12374G unknown Het
Tubgcp2 A G 7: 139,585,274 (GRCm39) Y484H probably damaging Het
Ubr4 G C 4: 139,177,824 (GRCm39) A1947P Het
Uggt1 A C 1: 36,194,188 (GRCm39) V1350G probably benign Het
Vmn1r173 A T 7: 23,402,076 (GRCm39) M104L probably benign Het
Xirp1 A T 9: 119,848,113 (GRCm39) C257S probably damaging Het
Zfyve26 A G 12: 79,327,179 (GRCm39) S724P probably damaging Het
Zmpste24 A T 4: 120,940,091 (GRCm39) L185Q probably null Het
Zpld1 G A 16: 55,052,594 (GRCm39) A340V probably benign Het
Other mutations in Pappa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01096:Pappa APN 4 65,107,553 (GRCm39) missense probably damaging 1.00
IGL01340:Pappa APN 4 65,242,109 (GRCm39) missense possibly damaging 0.49
IGL01482:Pappa APN 4 65,074,271 (GRCm39) missense probably benign 0.18
IGL01485:Pappa APN 4 65,107,536 (GRCm39) missense probably damaging 0.96
IGL01759:Pappa APN 4 65,123,395 (GRCm39) splice site probably null
IGL01860:Pappa APN 4 65,123,329 (GRCm39) missense possibly damaging 0.50
IGL01990:Pappa APN 4 65,074,924 (GRCm39) splice site probably benign
IGL02089:Pappa APN 4 65,074,361 (GRCm39) missense possibly damaging 0.75
IGL02153:Pappa APN 4 65,215,674 (GRCm39) missense probably damaging 0.96
IGL02184:Pappa APN 4 65,258,928 (GRCm39) missense possibly damaging 0.82
IGL02324:Pappa APN 4 65,115,045 (GRCm39) missense probably damaging 0.99
IGL02542:Pappa APN 4 65,094,518 (GRCm39) missense probably damaging 1.00
IGL02556:Pappa APN 4 65,074,863 (GRCm39) missense possibly damaging 0.56
IGL02698:Pappa APN 4 65,099,257 (GRCm39) missense probably damaging 1.00
IGL02903:Pappa APN 4 65,180,217 (GRCm39) missense probably damaging 1.00
IGL02974:Pappa APN 4 65,123,172 (GRCm39) missense probably damaging 1.00
IGL03107:Pappa APN 4 65,122,940 (GRCm39) missense probably damaging 1.00
IGL03376:Pappa APN 4 65,115,071 (GRCm39) missense probably benign 0.01
caer UTSW 4 65,043,128 (GRCm39) missense probably damaging 0.98
Maennel UTSW 4 65,232,824 (GRCm39) missense probably benign 0.05
maennelein UTSW 4 65,233,033 (GRCm39) splice site probably null
mama UTSW 4 65,123,104 (GRCm39) missense possibly damaging 0.94
Revisitation UTSW 4 65,212,705 (GRCm39) missense probably damaging 0.96
Sesquester UTSW 4 65,074,612 (GRCm39) missense possibly damaging 0.66
untersuchen UTSW 4 65,215,494 (GRCm39) missense probably damaging 1.00
IGL02980:Pappa UTSW 4 65,226,011 (GRCm39) missense probably benign 0.25
PIT4498001:Pappa UTSW 4 65,234,469 (GRCm39) missense probably damaging 1.00
R0077:Pappa UTSW 4 65,226,049 (GRCm39) missense probably damaging 1.00
R0390:Pappa UTSW 4 65,269,850 (GRCm39) splice site probably null
R0458:Pappa UTSW 4 65,074,119 (GRCm39) missense probably damaging 1.00
R0883:Pappa UTSW 4 65,107,552 (GRCm39) nonsense probably null
R0946:Pappa UTSW 4 65,233,029 (GRCm39) critical splice donor site probably null
R1228:Pappa UTSW 4 65,258,926 (GRCm39) missense probably damaging 1.00
R1327:Pappa UTSW 4 65,269,840 (GRCm39) splice site probably benign
R1489:Pappa UTSW 4 65,099,185 (GRCm39) missense possibly damaging 0.85
R1619:Pappa UTSW 4 65,094,466 (GRCm39) missense probably damaging 1.00
R1856:Pappa UTSW 4 65,258,980 (GRCm39) missense probably damaging 1.00
R2047:Pappa UTSW 4 65,149,378 (GRCm39) splice site probably benign
R2102:Pappa UTSW 4 65,234,465 (GRCm39) nonsense probably null
R2127:Pappa UTSW 4 65,215,494 (GRCm39) missense probably damaging 1.00
R2143:Pappa UTSW 4 65,099,186 (GRCm39) nonsense probably null
R2144:Pappa UTSW 4 65,099,186 (GRCm39) nonsense probably null
R2166:Pappa UTSW 4 65,074,682 (GRCm39) missense probably damaging 1.00
R2167:Pappa UTSW 4 65,074,682 (GRCm39) missense probably damaging 1.00
R2168:Pappa UTSW 4 65,074,682 (GRCm39) missense probably damaging 1.00
R2178:Pappa UTSW 4 65,269,924 (GRCm39) missense probably benign 0.00
R2504:Pappa UTSW 4 65,099,126 (GRCm39) nonsense probably null
R4043:Pappa UTSW 4 65,232,824 (GRCm39) missense probably benign 0.05
R4289:Pappa UTSW 4 65,074,100 (GRCm39) missense probably benign 0.19
R4415:Pappa UTSW 4 65,223,532 (GRCm39) missense probably benign 0.00
R4529:Pappa UTSW 4 65,149,419 (GRCm39) missense probably benign
R4620:Pappa UTSW 4 65,245,265 (GRCm39) missense probably benign 0.43
R4657:Pappa UTSW 4 65,233,033 (GRCm39) splice site probably null
R4658:Pappa UTSW 4 65,233,033 (GRCm39) splice site probably null
R5074:Pappa UTSW 4 65,123,365 (GRCm39) missense probably benign 0.15
R5200:Pappa UTSW 4 65,074,076 (GRCm39) missense probably damaging 1.00
R5420:Pappa UTSW 4 65,254,017 (GRCm39) critical splice donor site probably null
R5469:Pappa UTSW 4 65,123,389 (GRCm39) missense probably benign 0.01
R5651:Pappa UTSW 4 65,074,589 (GRCm39) missense probably damaging 0.99
R5725:Pappa UTSW 4 65,107,647 (GRCm39) missense probably damaging 1.00
R5941:Pappa UTSW 4 65,232,830 (GRCm39) missense possibly damaging 0.52
R6002:Pappa UTSW 4 65,215,645 (GRCm39) missense probably damaging 0.99
R6252:Pappa UTSW 4 65,107,649 (GRCm39) missense probably benign 0.02
R6303:Pappa UTSW 4 65,122,891 (GRCm39) missense probably damaging 1.00
R6322:Pappa UTSW 4 65,232,896 (GRCm39) missense probably damaging 1.00
R6431:Pappa UTSW 4 65,074,701 (GRCm39) missense probably damaging 1.00
R6462:Pappa UTSW 4 65,043,128 (GRCm39) missense probably damaging 0.98
R6484:Pappa UTSW 4 65,232,896 (GRCm39) missense probably damaging 1.00
R6537:Pappa UTSW 4 65,215,519 (GRCm39) missense probably damaging 0.99
R6578:Pappa UTSW 4 65,074,374 (GRCm39) missense possibly damaging 0.48
R6704:Pappa UTSW 4 65,123,161 (GRCm39) missense probably damaging 1.00
R6789:Pappa UTSW 4 65,099,278 (GRCm39) missense probably damaging 1.00
R7023:Pappa UTSW 4 65,269,955 (GRCm39) missense probably benign 0.00
R7139:Pappa UTSW 4 65,107,687 (GRCm39) missense probably benign 0.30
R7158:Pappa UTSW 4 65,123,104 (GRCm39) missense possibly damaging 0.94
R7196:Pappa UTSW 4 65,242,128 (GRCm39) splice site probably null
R7410:Pappa UTSW 4 65,253,956 (GRCm39) missense probably damaging 1.00
R7457:Pappa UTSW 4 65,107,503 (GRCm39) missense probably damaging 1.00
R7506:Pappa UTSW 4 65,149,419 (GRCm39) missense probably benign 0.00
R7546:Pappa UTSW 4 65,074,352 (GRCm39) missense possibly damaging 0.48
R7975:Pappa UTSW 4 65,212,705 (GRCm39) missense probably damaging 0.96
R8111:Pappa UTSW 4 65,180,229 (GRCm39) missense probably damaging 0.99
R8260:Pappa UTSW 4 65,234,419 (GRCm39) missense probably damaging 0.99
R8347:Pappa UTSW 4 65,245,302 (GRCm39) missense probably damaging 1.00
R8520:Pappa UTSW 4 65,254,001 (GRCm39) missense probably benign 0.01
R8812:Pappa UTSW 4 65,123,166 (GRCm39) missense possibly damaging 0.94
R8815:Pappa UTSW 4 65,099,347 (GRCm39) missense probably benign 0.00
R9008:Pappa UTSW 4 65,074,426 (GRCm39) missense probably damaging 1.00
R9162:Pappa UTSW 4 65,123,040 (GRCm39) missense probably damaging 1.00
R9170:Pappa UTSW 4 65,258,962 (GRCm39) missense probably damaging 1.00
R9205:Pappa UTSW 4 65,074,612 (GRCm39) missense possibly damaging 0.66
R9336:Pappa UTSW 4 65,042,918 (GRCm39) missense unknown
R9389:Pappa UTSW 4 65,099,125 (GRCm39) missense probably damaging 1.00
R9781:Pappa UTSW 4 65,043,104 (GRCm39) missense possibly damaging 0.89
RF006:Pappa UTSW 4 65,242,110 (GRCm39) missense probably benign 0.00
RF020:Pappa UTSW 4 65,123,282 (GRCm39) missense possibly damaging 0.77
X0058:Pappa UTSW 4 65,074,469 (GRCm39) missense probably damaging 1.00
X0060:Pappa UTSW 4 65,043,178 (GRCm39) missense probably benign 0.00
Z1177:Pappa UTSW 4 65,225,995 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACGTTGTAGTTTCTGCTCTCAG -3'
(R):5'- TAGGAACTTACCTGAGATGCCG -3'

Sequencing Primer
(F):5'- CATTGTGCATGGCAAGACTTC -3'
(R):5'- GCTGGCTGCCCAATGACAAC -3'
Posted On 2019-06-26