Incidental Mutation 'R9781:Pappa'
ID 734035
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9781 (G1)
Quality Score 164.009
Status Not validated
Chromosome 4
Chromosomal Location 65042411-65275746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65043104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 109 (L109Q)
Ref Sequence ENSEMBL: ENSMUSP00000081545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084501]
AlphaFold Q8R4K8
Predicted Effect possibly damaging
Transcript: ENSMUST00000084501
AA Change: L109Q

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081545
Gene: ENSMUSG00000028370
AA Change: L109Q

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: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.1%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,519,860 (GRCm39) F1386L probably benign Het
Aoc1l2 G A 6: 48,907,660 (GRCm39) S220N possibly damaging Het
Ap3d1 A C 10: 80,545,609 (GRCm39) L1040R possibly damaging Het
Bag4 T A 8: 26,259,564 (GRCm39) N212Y probably damaging Het
Bop1 A T 15: 76,338,041 (GRCm39) S610T probably damaging Het
Car12 T G 9: 66,624,844 (GRCm39) S30A probably benign Het
Ccdc14 A T 16: 34,543,984 (GRCm39) T829S possibly damaging Het
Ccn6 T A 10: 39,027,167 (GRCm39) *355L probably null Het
Cdc14a A T 3: 116,122,274 (GRCm39) I231N probably benign Het
Ceacam14 A T 7: 17,549,082 (GRCm39) I158F possibly damaging Het
Clca4a G T 3: 144,667,713 (GRCm39) S419R probably benign Het
Clec2g A G 6: 128,960,012 (GRCm39) N258D probably benign Het
Cntn5 A C 9: 10,048,686 (GRCm39) probably null Het
Col5a3 T A 9: 20,721,272 (GRCm39) S72C unknown Het
Dmbt1 G C 7: 130,639,599 (GRCm39) V46L probably benign Het
Dnah7b A G 1: 46,376,754 (GRCm39) probably null Het
Dnase1 T C 16: 3,857,054 (GRCm39) S204P probably benign Het
Dnhd1 A G 7: 105,352,917 (GRCm39) E2690G probably benign Het
Dst T C 1: 34,218,075 (GRCm39) L1505P probably benign Het
Dzip1 G A 14: 119,148,834 (GRCm39) L282F probably benign Het
E330034G19Rik A G 14: 24,359,528 (GRCm39) E313G unknown Het
Epc1 A T 18: 6,455,187 (GRCm39) probably null Het
Herc1 T C 9: 66,280,004 (GRCm39) M304T probably benign Het
Herc2 A T 7: 55,750,096 (GRCm39) I594F possibly damaging Het
Hivep2 T A 10: 14,005,828 (GRCm39) S809T probably benign Het
Hnrnph3 A T 10: 62,853,861 (GRCm39) M132K unknown Het
Hrnr A T 3: 93,239,696 (GRCm39) R3311S unknown Het
Jph3 T C 8: 122,457,380 (GRCm39) F7L probably damaging Het
Med13l C T 5: 118,868,032 (GRCm39) T732M possibly damaging Het
Mocos A T 18: 24,828,939 (GRCm39) H748L probably benign Het
Mrc1 A G 2: 14,249,100 (GRCm39) H212R probably benign Het
Mrc1 A T 2: 14,310,175 (GRCm39) Y812F possibly damaging Het
Mthfr T C 4: 148,132,710 (GRCm39) I296T probably damaging Het
Ncdn G A 4: 126,642,467 (GRCm39) R397W probably damaging Het
Nefh G A 11: 4,895,271 (GRCm39) T306I probably damaging Het
Nme7 C A 1: 164,155,890 (GRCm39) A30E possibly damaging Het
Or52z15 T A 7: 103,332,246 (GRCm39) M97K probably damaging Het
Pcdha2 A G 18: 37,074,102 (GRCm39) S578G probably benign Het
Pcf11 A T 7: 92,297,228 (GRCm39) D1361E possibly damaging Het
Pcm1 T C 8: 41,720,398 (GRCm39) S320P probably damaging Het
Pex19 T A 1: 171,956,855 (GRCm39) F105Y probably damaging Het
Pgap4 C T 4: 49,586,890 (GRCm39) V93I probably benign Het
Pggt1b A T 18: 46,392,779 (GRCm39) M124K probably damaging Het
Phkg1 T A 5: 129,895,807 (GRCm39) H148L probably damaging Het
Phlpp2 G T 8: 110,662,178 (GRCm39) R855L possibly damaging Het
Pkhd1 T A 1: 20,187,665 (GRCm39) I3548L possibly damaging Het
Plce1 T G 19: 38,513,654 (GRCm39) S318A probably damaging Het
Plcxd2 A G 16: 45,830,117 (GRCm39) W35R probably benign Het
Prl2b1 T A 13: 27,569,129 (GRCm39) E156D possibly damaging Het
Ptpn21 A G 12: 98,655,170 (GRCm39) V599A probably damaging Het
Raly T C 2: 154,699,265 (GRCm39) V23A probably damaging Het
Rapgef3 T C 15: 97,643,479 (GRCm39) I911V probably damaging Het
Rhbdl1 A G 17: 26,055,443 (GRCm39) V48A probably benign Het
Rhpn1 C T 15: 75,582,543 (GRCm39) Q212* probably null Het
Sec24b G T 3: 129,789,742 (GRCm39) P760T probably damaging Het
Septin8 C A 11: 53,422,889 (GRCm39) Q33K probably damaging Het
Serpinb6a T C 13: 34,109,346 (GRCm39) T150A probably benign Het
Shmt1 A T 11: 60,692,329 (GRCm39) H142Q probably damaging Het
Slc27a3 G A 3: 90,296,591 (GRCm39) S127L Het
Slc4a5 G A 6: 83,239,466 (GRCm39) A242T probably benign Het
Sphkap G A 1: 83,255,772 (GRCm39) T659I possibly damaging Het
Ssbp3 T C 4: 106,905,224 (GRCm39) S381P probably damaging Het
Stxbp5l C T 16: 37,165,485 (GRCm39) D78N probably benign Het
Suv39h2 G T 2: 3,463,631 (GRCm39) Q362K probably benign Het
Tcerg1 G A 18: 42,701,030 (GRCm39) R828Q probably damaging Het
Tgm2 T G 2: 157,971,321 (GRCm39) D306A probably damaging Het
Tmem79 A G 3: 88,239,931 (GRCm39) C260R possibly damaging Het
Ubn2 C A 6: 38,466,190 (GRCm39) A508E probably benign Het
Uggt2 T A 14: 119,232,384 (GRCm39) H1489L possibly damaging Het
Wnt16 T C 6: 22,291,114 (GRCm39) F181L probably damaging Het
Zfp326 T C 5: 106,062,825 (GRCm39) F565L unknown Het
Zfp62 T A 11: 49,106,297 (GRCm39) C129* probably null 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
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
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'- TTGCCAACCAGGAGGAGTTG -3'
(R):5'- CCATTCCGCAGATGGGTTAAAG -3'

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