Incidental Mutation 'R0077:Pappa'
ID 19460
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 038364-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0077 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 65042411-65275746 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65226049 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 1301 (T1301S)
Ref Sequence ENSEMBL: ENSMUSP00000081545 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084501]
AlphaFold Q8R4K8
Predicted Effect probably damaging
Transcript: ENSMUST00000084501
AA Change: T1301S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081545
Gene: ENSMUSG00000028370
AA Change: T1301S

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
Meta Mutation Damage Score 0.1561 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.4%
  • 20x: 90.5%
Validation Efficiency 83% (159/192)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T C 5: 81,919,532 (GRCm39) probably benign Het
Adgrl4 A G 3: 151,223,418 (GRCm39) I624V probably damaging Het
AI661453 A G 17: 47,780,287 (GRCm39) probably benign Het
Alg12 C T 15: 88,700,181 (GRCm39) E60K probably damaging Het
Angel2 A T 1: 190,665,284 (GRCm39) N72Y possibly damaging Het
Ank1 C A 8: 23,630,183 (GRCm39) P81Q probably damaging Het
Atp6v1c2 A T 12: 17,371,613 (GRCm39) D61E probably damaging Het
Bpi T A 2: 158,103,254 (GRCm39) M83K probably damaging Het
Capn7 A G 14: 31,090,072 (GRCm39) I642V probably benign Het
Ccdc134 T C 15: 82,015,938 (GRCm39) probably benign Het
Ccr3 C T 9: 123,829,061 (GRCm39) T132I probably damaging Het
Cfap65 C A 1: 74,971,077 (GRCm39) W80C probably damaging Het
Chaf1a T A 17: 56,354,384 (GRCm39) I218K unknown Het
Ddx23 A G 15: 98,554,481 (GRCm39) probably null Het
Dmkn A G 7: 30,464,719 (GRCm39) S231G probably benign Het
Ep300 T C 15: 81,525,514 (GRCm39) I1446T unknown Het
Fmnl1 T C 11: 103,080,795 (GRCm39) F318S probably damaging Het
Grik5 A T 7: 24,722,805 (GRCm39) V497E probably damaging Het
Gtf2ird2 T C 5: 134,242,925 (GRCm39) Y380H probably damaging Het
Hecw2 C T 1: 53,907,990 (GRCm39) probably benign Het
Hspb7 A G 4: 141,151,358 (GRCm39) I167V probably damaging Het
Kcnh2 T A 5: 24,527,700 (GRCm39) N884I probably benign Het
Krba1 T C 6: 48,382,159 (GRCm39) probably benign Het
Krt18 G T 15: 101,939,409 (GRCm39) R294L probably benign Het
Lctl T A 9: 64,029,389 (GRCm39) M1K probably null Het
Lingo2 G A 4: 35,708,375 (GRCm39) S535F possibly damaging Het
Lrba A C 3: 86,449,995 (GRCm39) N2105H probably damaging Het
Lrrc10 A G 10: 116,881,419 (GRCm39) D31G probably damaging Het
Lrrtm1 T A 6: 77,220,855 (GRCm39) V104E probably damaging Het
Mgat3 C T 15: 80,096,778 (GRCm39) T535I probably benign Het
Nav3 T C 10: 109,552,503 (GRCm39) I1780V possibly damaging Het
Nlrc4 A G 17: 74,753,826 (GRCm39) W186R probably damaging Het
Nr2c1 T A 10: 94,024,117 (GRCm39) F441I probably benign Het
Obscn A G 11: 58,942,347 (GRCm39) probably benign Het
Or1p1 T C 11: 74,179,501 (GRCm39) F10L probably benign Het
Or2a56 T C 6: 42,932,707 (GRCm39) S92P probably benign Het
Or56b34 T C 7: 104,937,726 (GRCm39) V142A probably damaging Het
Or5au1 T C 14: 52,273,442 (GRCm39) N42S possibly damaging Het
Osr1 A T 12: 9,629,691 (GRCm39) Y188F probably damaging Het
Pak2 A T 16: 31,852,661 (GRCm39) N293K possibly damaging Het
Pde4dip G A 3: 97,660,442 (GRCm39) Q679* probably null Het
Pik3r5 T A 11: 68,377,448 (GRCm39) probably null Het
Plbd2 C T 5: 120,624,104 (GRCm39) probably null Het
Ppp1r3a G T 6: 14,754,516 (GRCm39) P244T possibly damaging Het
Pum1 C A 4: 130,499,985 (GRCm39) R960S probably benign Het
Ralgapb T C 2: 158,315,169 (GRCm39) Y845H probably damaging Het
Rbms1 A T 2: 60,589,179 (GRCm39) M287K possibly damaging Het
Rdh1 A T 10: 127,595,906 (GRCm39) I34F probably damaging Het
Rgl3 T A 9: 21,885,398 (GRCm39) Q644L probably benign Het
Rpap2 T C 5: 107,768,340 (GRCm39) S393P probably damaging Het
Rsad2 T C 12: 26,506,376 (GRCm39) S15G probably damaging Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
S100a11 A C 3: 93,431,509 (GRCm39) probably null Het
Septin4 T C 11: 87,472,022 (GRCm39) S11P probably benign Het
Serpina1c T C 12: 103,862,350 (GRCm39) S322G probably benign Het
Setdb1 A T 3: 95,248,762 (GRCm39) C385S probably damaging Het
Shank2 A T 7: 143,746,204 (GRCm39) I193F possibly damaging Het
Slc4a11 G T 2: 130,528,221 (GRCm39) probably benign Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Tbcd C A 11: 121,485,100 (GRCm39) Q761K probably benign Het
Tmed6 C T 8: 107,792,198 (GRCm39) V16M probably damaging Het
Tmem229a T C 6: 24,955,701 (GRCm39) T18A probably benign Het
Tsc1 T A 2: 28,568,955 (GRCm39) probably benign Het
Ube2m T C 7: 12,769,657 (GRCm39) N49D probably damaging Het
Ubqlnl T C 7: 103,799,254 (GRCm39) D81G probably damaging Het
Vmn2r56 A G 7: 12,449,332 (GRCm39) V302A probably benign Het
Vmn2r73 T A 7: 85,525,075 (GRCm39) R24S probably benign Het
Wfs1 C A 5: 37,130,538 (GRCm39) S236I probably damaging Het
Xpot A T 10: 121,441,544 (GRCm39) N560K probably benign Het
Yipf3 A G 17: 46,562,503 (GRCm39) T303A probably benign Het
Zfp790 T C 7: 29,524,300 (GRCm39) W19R probably damaging Het
Zfp846 T C 9: 20,505,303 (GRCm39) C388R probably benign Het
Zpr1 T A 9: 46,184,634 (GRCm39) I47N 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
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
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'- ACGCCTATCTGCACCTGTCTGA -3'
(R):5'- GGCTGTACAACAAGATGGTTGACATGA -3'

Sequencing Primer
(F):5'- GTCTGATCCCCATCATTGTACC -3'
(R):5'- GTAAAAAGAAACCAGGACAGACAC -3'
Posted On 2013-04-11