Incidental Mutation 'R5253:Papd5'
ID472477
Institutional Source Beutler Lab
Gene Symbol Papd5
Ensembl Gene ENSMUSG00000036779
Gene NamePAP associated domain containing 5
Synonyms5730445M16Rik
MMRRC Submission 042824-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.941) question?
Stock #R5253 (G1)
Quality Score26
Status Validated
Chromosome8
Chromosomal Location88199213-88259722 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 88200023 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 20 (H20Q)
Ref Sequence ENSEMBL: ENSMUSP00000112766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066748] [ENSMUST00000118952] [ENSMUST00000119033]
Predicted Effect probably benign
Transcript: ENSMUST00000066748
AA Change: H20Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067971
Gene: ENSMUSG00000036779
AA Change: H20Q

DomainStartEndE-ValueType
low complexity region 21 47 N/A INTRINSIC
low complexity region 83 117 N/A INTRINSIC
low complexity region 148 162 N/A INTRINSIC
Pfam:NTP_transf_2 206 315 1.6e-16 PFAM
Pfam:PAP_assoc 326 386 2.4e-18 PFAM
low complexity region 496 526 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000118952
AA Change: H20Q

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112608
Gene: ENSMUSG00000036779
AA Change: H20Q

DomainStartEndE-ValueType
low complexity region 21 47 N/A INTRINSIC
low complexity region 83 117 N/A INTRINSIC
low complexity region 148 162 N/A INTRINSIC
Pfam:NTP_transf_2 206 317 1.1e-16 PFAM
Pfam:PAP_assoc 369 429 1.1e-17 PFAM
low complexity region 539 569 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000119033
AA Change: H20Q

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112766
Gene: ENSMUSG00000036779
AA Change: H20Q

DomainStartEndE-ValueType
low complexity region 21 47 N/A INTRINSIC
low complexity region 83 117 N/A INTRINSIC
low complexity region 148 162 N/A INTRINSIC
Pfam:NTP_transf_2 206 318 4.6e-18 PFAM
Pfam:PAP_assoc 369 429 4.8e-17 PFAM
low complexity region 539 569 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 99% (72/73)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J11Rik T C 9: 40,051,450 noncoding transcript Het
Actrt2 A C 4: 154,667,569 S37A possibly damaging Het
Adcy7 T C 8: 88,314,114 I327T probably damaging Het
Ankrd13b A G 11: 77,473,235 probably benign Het
Arap1 A C 7: 101,388,644 I237L probably benign Het
Arhgap17 A T 7: 123,303,748 Y359N probably benign Het
Atad1 A G 19: 32,674,302 M343T probably benign Het
Cacna1b A T 2: 24,719,952 I392N probably damaging Het
Cacna1c A G 6: 118,597,969 S1914P probably benign Het
Cd300a G T 11: 114,894,751 R174L probably benign Het
Dip2a G A 10: 76,299,997 P356L probably damaging Het
Dsg1c T C 18: 20,272,379 L283P probably damaging Het
Dusp1 T C 17: 26,508,217 N36S probably benign Het
Ercc3 C A 18: 32,269,864 P776Q probably damaging Het
Etv1 A G 12: 38,852,249 R260G possibly damaging Het
Fa2h C G 8: 111,349,237 M251I probably benign Het
Flg2 A G 3: 93,200,812 D49G probably damaging Het
Fras1 A G 5: 96,741,025 E2810G probably damaging Het
Fuk T C 8: 110,883,867 E968G possibly damaging Het
Gabbr1 T C 17: 37,055,913 F343S possibly damaging Het
Gdf2 A G 14: 33,945,307 T329A probably benign Het
Hcn4 T A 9: 58,824,275 I255N unknown Het
Hk3 T G 13: 55,011,011 D485A probably damaging Het
Hook3 T C 8: 26,072,291 T249A probably benign Het
Kcp C T 6: 29,498,520 probably benign Het
Kifc2 G T 15: 76,666,281 R515L possibly damaging Het
Kiss1r A G 10: 79,920,750 Y142C probably damaging Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Klrb1a T A 6: 128,619,163 I72L probably benign Het
Lep T A 6: 29,070,863 F62Y probably damaging Het
Lrtm1 A G 14: 29,021,844 T90A probably benign Het
Mug1 A T 6: 121,888,913 D1472V probably benign Het
Ncor2 G T 5: 125,026,930 P1988Q probably benign Het
Nlrp4a C T 7: 26,450,492 S508L probably benign Het
Obp2b T A 2: 25,737,143 D29E probably benign Het
Olfr1123 G A 2: 87,418,668 V207M possibly damaging Het
Olfr1214 A G 2: 88,988,100 L34P possibly damaging Het
Olfr1224-ps1 A T 2: 89,156,457 C239* probably null Het
Olfr725 T C 14: 50,035,288 I38M possibly damaging Het
Olfr803 A G 10: 129,691,732 I103T probably damaging Het
Otof A G 5: 30,370,139 S1985P probably damaging Het
Oxct2a A T 4: 123,323,093 V165E probably damaging Het
Pcdhgb7 T C 18: 37,753,097 V440A possibly damaging Het
Pelp1 C A 11: 70,401,661 G211C probably damaging Het
Phox2a A G 7: 101,822,105 H268R probably benign Het
Pik3c2g T C 6: 139,896,257 probably null Het
Pramel1 T A 4: 143,398,586 M360K probably benign Het
Rbm6 C T 9: 107,852,657 R132K probably damaging Het
Slc22a30 G A 19: 8,344,393 Q436* probably null Het
Slc45a1 T C 4: 150,638,270 T386A probably damaging Het
Smad2 A G 18: 76,288,053 Y151C probably damaging Het
Sptbn2 G A 19: 4,750,082 G2188D probably benign Het
Sugt1 G A 14: 79,602,901 probably null Het
Tctn3 T C 19: 40,607,241 S367G probably benign Het
Tead1 G T 7: 112,861,545 D219Y probably damaging Het
Tenm2 G T 11: 36,047,201 Y1548* probably null Het
Tenm3 T A 8: 48,229,198 I2466F possibly damaging Het
Tgm2 G A 2: 158,129,438 P294S probably damaging Het
Tns2 T C 15: 102,111,453 S585P probably damaging Het
Ttc41 A G 10: 86,730,942 K491E probably benign Het
Ttn G A 2: 76,791,551 T15549I probably damaging Het
Vmn1r157 T C 7: 22,761,758 L21P probably damaging Het
Vmn2r81 A G 10: 79,247,986 M65V probably benign Het
Wdr34 T A 2: 30,032,363 probably benign Het
Zcchc14 T C 8: 121,618,694 probably benign Het
Other mutations in Papd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Papd5 APN 8 88252258 nonsense probably null
R0079:Papd5 UTSW 8 88200003 missense possibly damaging 0.86
R0158:Papd5 UTSW 8 88250743 missense probably damaging 1.00
R1175:Papd5 UTSW 8 88252007 missense probably damaging 1.00
R1351:Papd5 UTSW 8 88200374 nonsense probably null
R1381:Papd5 UTSW 8 88243309 missense possibly damaging 0.95
R1541:Papd5 UTSW 8 88245599 missense probably damaging 1.00
R1801:Papd5 UTSW 8 88250788 missense probably benign 0.25
R1994:Papd5 UTSW 8 88246484 missense probably damaging 1.00
R2013:Papd5 UTSW 8 88245595 splice site probably null
R2290:Papd5 UTSW 8 88251975 missense probably damaging 1.00
R3791:Papd5 UTSW 8 88243329 missense probably damaging 1.00
R3845:Papd5 UTSW 8 88250664 missense possibly damaging 0.60
R3886:Papd5 UTSW 8 88200415 missense probably benign 0.03
R5041:Papd5 UTSW 8 88255250 small deletion probably benign
R6881:Papd5 UTSW 8 88250788 missense possibly damaging 0.91
R7792:Papd5 UTSW 8 88252554 missense probably benign
R8054:Papd5 UTSW 8 88247558 missense probably damaging 1.00
X0024:Papd5 UTSW 8 88246475 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCACGGACGCTACGGAG -3'
(R):5'- GGTCGGTAGACTCGGAGG -3'

Sequencing Primer
(F):5'- CGCCATTTGCACGGGAAC -3'
(R):5'- AGGGAGCCGATGGGACC -3'
Posted On2017-04-10