Incidental Mutation 'R5725:Pappa'
ID 452427
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 043343-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5725 (G1)
Quality Score 214
Status Not validated
Chromosome 4
Chromosomal Location 65042411-65275746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 65107647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 686 (V686E)
Ref Sequence ENSEMBL: ENSMUSP00000081545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084501]
AlphaFold Q8R4K8
Predicted Effect probably damaging
Transcript: ENSMUST00000084501
AA Change: V686E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000081545
Gene: ENSMUSG00000028370
AA Change: V686E

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G A 12: 71,240,093 (GRCm39) R1301H probably benign Het
6030468B19Rik G T 11: 117,696,883 (GRCm39) S201I probably damaging Het
Abca13 G A 11: 9,527,181 (GRCm39) M4531I probably benign Het
Abca2 A G 2: 25,329,412 (GRCm39) M1058V probably damaging Het
Agrn T A 4: 156,258,332 (GRCm39) T938S probably benign Het
Aloxe3 A T 11: 69,019,480 (GRCm39) D131V probably null Het
Angptl7 C A 4: 148,580,965 (GRCm39) A277S possibly damaging Het
Ap5z1 T C 5: 142,454,731 (GRCm39) M244T probably damaging Het
Aplp2 T C 9: 31,069,110 (GRCm39) D573G probably damaging Het
Arid5a G T 1: 36,358,211 (GRCm39) E176* probably null Het
Atp8b4 A T 2: 126,275,856 (GRCm39) N125K probably benign Het
Auts2 A G 5: 131,468,584 (GRCm39) V911A probably benign Het
Bahcc1 G A 11: 120,165,714 (GRCm39) R990H probably benign Het
Cd84 T C 1: 171,700,928 (GRCm39) F230L probably benign Het
Dtnb T A 12: 3,823,566 (GRCm39) L584H probably damaging Het
Dync2h1 A C 9: 7,169,528 (GRCm39) S316R probably benign Het
Eif3m A G 2: 104,844,186 (GRCm39) I73T probably damaging Het
Emilin3 A T 2: 160,750,410 (GRCm39) C399* probably null Het
Fam118a A G 15: 84,929,822 (GRCm39) K17E probably damaging Het
Fat4 A G 3: 38,943,774 (GRCm39) N889S probably damaging Het
Hmcn2 G A 2: 31,273,827 (GRCm39) probably null Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Igsf21 T C 4: 139,762,054 (GRCm39) D208G probably benign Het
Itgax A G 7: 127,747,033 (GRCm39) T945A possibly damaging Het
Itsn2 T A 12: 4,680,767 (GRCm39) probably benign Het
Kcna4 A G 2: 107,127,221 (GRCm39) T652A possibly damaging Het
Kir3dl1 G A X: 135,427,231 (GRCm39) D56N probably damaging Het
Lrp4 A G 2: 91,325,240 (GRCm39) Y1355C probably damaging Het
Mmp9 C A 2: 164,791,256 (GRCm39) A142E possibly damaging Het
Mpeg1 T C 19: 12,440,000 (GRCm39) V486A probably benign Het
Mrgprb3 A T 7: 48,293,548 (GRCm39) M1K probably null Het
Mrtfb A T 16: 13,202,174 (GRCm39) K146* probably null Het
Nacad T C 11: 6,551,643 (GRCm39) E516G probably benign Het
Or5k15 G A 16: 58,710,250 (GRCm39) T111I possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Polr3a A T 14: 24,515,455 (GRCm39) probably null Het
Ppp1r3a A G 6: 14,719,348 (GRCm39) V522A probably benign Het
Rab6b T A 9: 103,041,061 (GRCm39) F152I probably damaging Het
Sacs G A 14: 61,448,559 (GRCm39) R3535Q probably damaging Het
Septin14 T C 5: 129,766,630 (GRCm39) D317G probably damaging Het
Sin3b T C 8: 73,452,320 (GRCm39) probably null Het
Sis G A 3: 72,872,931 (GRCm39) P69L probably damaging Het
Slc12a3 G T 8: 95,057,074 (GRCm39) V116L probably benign Het
Slc16a12 A T 19: 34,652,227 (GRCm39) F306L probably damaging Het
Slc39a12 T C 2: 14,394,075 (GRCm39) probably benign Het
Smg6 A G 11: 74,821,439 (GRCm39) Q570R probably benign Het
Sptb G A 12: 76,669,888 (GRCm39) A480V probably benign Het
Srsf4 C A 4: 131,628,262 (GRCm39) probably benign Het
Topors T C 4: 40,261,952 (GRCm39) D444G probably damaging Het
Trav19 A C 14: 54,082,999 (GRCm39) T25P possibly damaging Het
Trim3 A G 7: 105,266,947 (GRCm39) probably null Het
Ugt2a2 T C 5: 87,622,755 (GRCm39) N281S probably damaging Het
Vmn1r12 A G 6: 57,136,694 (GRCm39) I264V probably benign Het
Vmn2r94 T A 17: 18,476,489 (GRCm39) I403F possibly damaging Het
Zzef1 G A 11: 72,746,308 (GRCm39) R870Q possibly 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
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
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'- GGAGACGTCATTCTTCTCTTGC -3'
(R):5'- CACTGCTGAGTAGTGGGTTC -3'

Sequencing Primer
(F):5'- TGCCTGTGCAGCTTGGG -3'
(R):5'- GAGTAGTGGGTTCTTTATTCAACAAG -3'
Posted On 2017-01-03