Incidental Mutation 'R9162:Pappa'
ID 695771
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 068943-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9162 (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 65123040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 792 (S792T)
Ref Sequence ENSEMBL: ENSMUSP00000081545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084501]
AlphaFold Q8R4K8
Predicted Effect probably damaging
Transcript: ENSMUST00000084501
AA Change: S792T

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000081545
Gene: ENSMUSG00000028370
AA Change: S792T

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: 99.2%
Validation Efficiency 98% (48/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 A G 5: 24,611,732 (GRCm39) D516G probably damaging Het
Abcd2 A G 15: 91,058,926 (GRCm39) M506T probably benign Het
Abhd17a T C 10: 80,422,577 (GRCm39) Y35C probably damaging Het
Adamts12 A G 15: 11,311,721 (GRCm39) N1326S probably benign Het
Arhgef18 T C 8: 3,414,645 (GRCm39) Y8H probably benign Het
Arsi T C 18: 61,050,569 (GRCm39) V484A probably damaging Het
Bsn T C 9: 107,987,883 (GRCm39) D2623G unknown Het
Cul9 A C 17: 46,837,529 (GRCm39) D1005E probably benign Het
Dchs1 A C 7: 105,414,732 (GRCm39) V770G probably damaging Het
Dcst2 C A 3: 89,274,088 (GRCm39) S213* probably null Het
Dnah11 C T 12: 117,991,251 (GRCm39) E2372K probably damaging Het
Dysf C T 6: 84,089,215 (GRCm39) T926I probably damaging Het
Ext1 G A 15: 53,208,504 (GRCm39) R86* probably null Het
Fat1 T C 8: 45,404,352 (GRCm39) F368L probably damaging Het
Flnc T C 6: 29,455,860 (GRCm39) C2097R probably damaging Het
Git1 T A 11: 77,396,331 (GRCm39) I565N probably benign Het
Gpr22 A G 12: 31,758,724 (GRCm39) V466A probably benign Het
Hacd4 T A 4: 88,338,017 (GRCm39) T194S probably benign Het
Hectd4 A G 5: 121,445,042 (GRCm39) K93R possibly damaging Het
Kcnv1 T C 15: 44,972,450 (GRCm39) S478G possibly damaging Het
Kmt2a T C 9: 44,759,363 (GRCm39) S829G probably benign Het
Lnp1 A T 16: 56,737,844 (GRCm39) H81Q possibly damaging Het
Lrp1 C T 10: 127,441,368 (GRCm39) A252T probably benign Het
Msl2 T C 9: 100,978,928 (GRCm39) V434A probably benign Het
Myo1g T A 11: 6,460,897 (GRCm39) I716F probably damaging Het
Or52e19 A T 7: 102,958,927 (GRCm39) probably benign Het
Or56a42-ps1 A T 7: 104,777,454 (GRCm39) Y53* probably null Het
Or5b12 A T 19: 12,897,024 (GRCm39) Y216* probably null Het
Or7e175 A G 9: 20,040,457 (GRCm39) I6V probably benign Het
Pcdhb17 T C 18: 37,620,168 (GRCm39) S653P probably damaging Het
Plcd4 A G 1: 74,601,362 (GRCm39) K574R probably benign Het
Scyl3 C A 1: 163,773,891 (GRCm39) Q372K probably benign Het
Sgsm1 A T 5: 113,430,577 (GRCm39) D269E probably damaging Het
Siah2 C A 3: 58,599,104 (GRCm39) G45C unknown Het
Slc4a11 T A 2: 130,534,214 (GRCm39) D28V possibly damaging Het
Slco1a8 T A 6: 141,939,453 (GRCm39) E200V probably damaging Het
Socs4 T A 14: 47,528,301 (GRCm39) M412K probably damaging Het
Spata31e1 T G 13: 49,939,310 (GRCm39) Q800P possibly damaging Het
Spef2 T G 15: 9,602,017 (GRCm39) N1415T unknown Het
Stat6 A G 10: 127,487,089 (GRCm39) K199E probably damaging Het
Syndig1l A G 12: 84,727,291 (GRCm39) F91S probably damaging Het
Tank C A 2: 61,480,432 (GRCm39) Q324K possibly damaging Het
Tars3 G A 7: 65,332,518 (GRCm39) E540K probably benign Het
Tial1 A G 7: 128,050,415 (GRCm39) V70A possibly damaging Het
Tmem87b C T 2: 128,681,150 (GRCm39) T358I probably benign Het
Ttyh3 G A 5: 140,621,820 (GRCm39) A42V possibly damaging Het
Xrn1 T C 9: 95,915,660 (GRCm39) I1261T probably benign Het
Zfp229 T C 17: 21,964,495 (GRCm39) S242P probably damaging Het
Zmym2 T A 14: 57,163,361 (GRCm39) C638S 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
R7165:Pappa UTSW 4 65,180,110 (GRCm39) missense probably damaging 1.00
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
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'- TCTGGGTCTGTGGGAAACTC -3'
(R):5'- TAGATTTGGATGCCATATACCTCCTC -3'

Sequencing Primer
(F):5'- TCTGTGGGAAACTCTGAAAACC -3'
(R):5'- CACCCACATCCCGGAGTCTG -3'
Posted On 2022-02-07