Incidental Mutation 'R8815:Pappa'
ID 672652
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 068650-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8815 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 65042411-65275746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65099347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 622 (H622R)
Ref Sequence ENSEMBL: ENSMUSP00000081545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084501]
AlphaFold Q8R4K8
Predicted Effect probably benign
Transcript: ENSMUST00000084501
AA Change: H622R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000081545
Gene: ENSMUSG00000028370
AA Change: H622R

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: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (70/71)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik A T 1: 57,421,943 (GRCm39) Q106H probably damaging Het
Acad9 T C 3: 36,139,590 (GRCm39) C397R probably damaging Het
Ankfn1 T G 11: 89,282,602 (GRCm39) R348S probably damaging Het
Ankrd61 A G 5: 143,831,336 (GRCm39) C28R probably benign Het
Ano5 C T 7: 51,194,548 (GRCm39) R94* probably null Het
Apela A T 8: 65,489,590 (GRCm39) F10I unknown Het
Arhgap31 T C 16: 38,429,790 (GRCm39) S362G probably benign Het
Arhgef18 C A 8: 3,430,410 (GRCm39) H94Q probably benign Het
Astn2 A T 4: 65,830,834 (GRCm39) L585Q possibly damaging Het
Atf3 G T 1: 190,909,564 (GRCm39) A35D probably benign Het
Atp10b A T 11: 43,093,978 (GRCm39) R507S possibly damaging Het
Brip1 A C 11: 86,080,598 (GRCm39) V156G probably benign Het
Ccdc27 T A 4: 154,111,205 (GRCm39) M636L probably benign Het
Ceacam5 T A 7: 17,493,285 (GRCm39) N769K possibly damaging Het
Cklf C T 8: 104,977,560 (GRCm39) probably benign Het
Cpeb4 G A 11: 31,870,546 (GRCm39) V474M probably damaging Het
Dip2c T A 13: 9,673,834 (GRCm39) C1091* probably null Het
Eef1akmt4 T A 16: 20,437,288 (GRCm39) I210N possibly damaging Het
Fbxo38 A T 18: 62,666,587 (GRCm39) H195Q probably damaging Het
Fbxw14 G A 9: 109,105,305 (GRCm39) R287* probably null Het
Fes A G 7: 80,033,619 (GRCm39) S211P possibly damaging Het
Fry G T 5: 150,317,603 (GRCm39) R861L possibly damaging Het
Galnt12 A G 4: 47,113,908 (GRCm39) probably benign Het
Gm14226 G A 2: 154,866,538 (GRCm39) W165* probably null Het
Gm40460 GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG 7: 141,794,171 (GRCm39) probably benign Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gprc6a A G 10: 51,497,079 (GRCm39) V488A probably benign Het
Haus8 A T 8: 71,705,910 (GRCm39) probably benign Het
Helb A T 10: 119,948,692 (GRCm39) C26S possibly damaging Het
Icam1 A T 9: 20,937,862 (GRCm39) I300F probably benign Het
Ip6k1 A G 9: 107,918,211 (GRCm39) N181S probably benign Het
Itga2b C A 11: 102,351,687 (GRCm39) R546L possibly damaging Het
Kif27 A T 13: 58,476,818 (GRCm39) Y611N probably damaging Het
Lpcat2 A G 8: 93,640,979 (GRCm39) I475V possibly damaging Het
Lrit2 A G 14: 36,794,487 (GRCm39) K517R probably benign Het
Lrp1b A T 2: 40,555,171 (GRCm39) I4085N Het
Lrrc32 T A 7: 98,148,242 (GRCm39) S341T probably damaging Het
Lrrn2 T A 1: 132,866,831 (GRCm39) I632K possibly damaging Het
Mettl22 A G 16: 8,300,178 (GRCm39) Q194R probably benign Het
Mfhas1 T A 8: 36,057,394 (GRCm39) V623E probably damaging Het
Mitd1 T C 1: 37,929,315 (GRCm39) D26G probably damaging Het
Myo1a C T 10: 127,546,043 (GRCm39) T222M probably benign Het
Naf1 A G 8: 67,317,333 (GRCm39) K275R possibly damaging Het
Nf1 T C 11: 79,332,491 (GRCm39) L765P probably damaging Het
Or12k7 G T 2: 36,958,429 (GRCm39) M37I probably benign Het
Or52a5 A G 7: 103,427,063 (GRCm39) L163P possibly damaging Het
Or5ac16 T A 16: 59,022,264 (GRCm39) H175L possibly damaging Het
Or9r3 T A 10: 129,947,808 (GRCm39) I284F probably damaging Het
Pcdhb4 A T 18: 37,442,055 (GRCm39) Y455F probably damaging Het
Pepd A G 7: 34,671,116 (GRCm39) Y220C probably damaging Het
Pias3 T C 3: 96,607,381 (GRCm39) I172T probably damaging Het
Polq T A 16: 36,853,893 (GRCm39) H415Q probably damaging Het
Pp2d1 A T 17: 53,814,897 (GRCm39) M609K probably benign Het
Ppm1m G A 9: 106,076,237 (GRCm39) probably benign Het
Prss22 T A 17: 24,215,662 (GRCm39) T87S probably benign Het
Ptprf C A 4: 118,095,125 (GRCm39) V254L possibly damaging Het
Ripply3 A G 16: 94,136,723 (GRCm39) E128G possibly damaging Het
Rrm2 A C 12: 24,760,470 (GRCm39) I185L possibly damaging Het
Sbsn T A 7: 30,454,227 (GRCm39) probably benign Het
Sdc3 T A 4: 130,546,336 (GRCm39) S232T probably benign Het
Slx4 G C 16: 3,803,458 (GRCm39) P1119A probably benign Het
Smc5 C T 19: 23,221,422 (GRCm39) R369Q probably damaging Het
Speer4a3 A G 5: 26,158,191 (GRCm39) S54P probably damaging Het
Spns1 G A 7: 125,971,593 (GRCm39) S319F possibly damaging Het
Sptbn4 G A 7: 27,106,657 (GRCm39) Q924* probably null Het
Srcap G C 7: 127,158,037 (GRCm39) D2638H unknown Het
Srsf12 T C 4: 33,226,045 (GRCm39) S103P possibly damaging Het
Tanc1 A G 2: 59,621,185 (GRCm39) T335A possibly damaging Het
Them4 C T 3: 94,231,610 (GRCm39) T149I probably damaging Het
Trpc7 T C 13: 56,970,312 (GRCm39) Y424C possibly damaging Het
Ttn C T 2: 76,628,364 (GRCm39) D14599N probably damaging Het
Ttn A T 2: 76,698,244 (GRCm39) L186H Het
Usp17lc T C 7: 103,067,524 (GRCm39) F273S probably benign Het
Vwa5b2 T C 16: 20,419,516 (GRCm39) S620P probably damaging 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
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'- TATGGCATTCCCGGACACAC -3'
(R):5'- CTGATTGCTTGGAAAGAAAAGTCTCC -3'

Sequencing Primer
(F):5'- CCACACCATGATTCATGAGATTGGG -3'
(R):5'- GTCTCCATCTTAGTAAAATGAGCAG -3'
Posted On 2021-04-30