Incidental Mutation 'R5261:Papolb'
ID 401430
Institutional Source Beutler Lab
Gene Symbol Papolb
Ensembl Gene ENSMUSG00000074817
Gene Name poly (A) polymerase beta (testis specific)
Synonyms Papt, TPAP, Papola-ps, Plap-ps
MMRRC Submission 042830-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5261 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 142513495-142515831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 142515409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Proline at position 78 (R78P)
Ref Sequence ENSEMBL: ENSMUSP00000100595 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063635] [ENSMUST00000085758] [ENSMUST00000099400] [ENSMUST00000110785]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000063635
SMART Domains Protein: ENSMUSP00000064539
Gene: ENSMUSG00000029576

DomainStartEndE-ValueType
RA 61 164 1.68e-15 SMART
Blast:FHA 265 332 2e-25 BLAST
low complexity region 344 354 N/A INTRINSIC
low complexity region 550 560 N/A INTRINSIC
DIL 634 743 6.19e-34 SMART
low complexity region 950 964 N/A INTRINSIC
PDZ 979 1056 3.86e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000085758
SMART Domains Protein: ENSMUSP00000082910
Gene: ENSMUSG00000029576

DomainStartEndE-ValueType
RA 90 193 1.68e-15 SMART
Blast:FHA 294 361 2e-25 BLAST
low complexity region 373 383 N/A INTRINSIC
low complexity region 579 589 N/A INTRINSIC
DIL 663 772 6.19e-34 SMART
low complexity region 979 993 N/A INTRINSIC
PDZ 1008 1085 3.86e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000099400
AA Change: R78P

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100595
Gene: ENSMUSG00000074817
AA Change: R78P

DomainStartEndE-ValueType
low complexity region 9 18 N/A INTRINSIC
Pfam:PAP_central 22 365 1.2e-118 PFAM
Pfam:NTP_transf_2 77 176 7.9e-16 PFAM
Pfam:PAP_RNA-bind 367 436 2.3e-22 PFAM
low complexity region 593 610 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110785
SMART Domains Protein: ENSMUSP00000106412
Gene: ENSMUSG00000029576

DomainStartEndE-ValueType
RA 61 164 1.68e-15 SMART
Blast:FHA 265 332 2e-25 BLAST
low complexity region 344 354 N/A INTRINSIC
low complexity region 550 560 N/A INTRINSIC
DIL 634 743 6.19e-34 SMART
low complexity region 973 987 N/A INTRINSIC
PDZ 1002 1079 3.86e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139824
Meta Mutation Damage Score 0.1246 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 96% (64/67)
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation exhibit male infertility associated with reduced testes weight, smaller seminiferous tubules, and arrested spermiogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik C G 2: 152,282,777 (GRCm39) P211A probably damaging Het
Ambra1 G A 2: 91,715,951 (GRCm39) V761M probably damaging Het
Amfr T A 8: 94,702,798 (GRCm39) probably null Het
Asphd1 C A 7: 126,545,287 (GRCm39) A357S probably benign Het
Brd3 C A 2: 27,353,931 (GRCm39) Q60H probably damaging Het
Cd96 T A 16: 45,890,016 (GRCm39) M336L probably benign Het
Cep152 T A 2: 125,406,125 (GRCm39) H1469L probably benign Het
Coro1a G T 7: 126,299,816 (GRCm39) probably null Het
D630045J12Rik A T 6: 38,171,555 (GRCm39) L871Q probably benign Het
Depdc5 C T 5: 33,095,635 (GRCm39) P824L probably damaging Het
Enpep T G 3: 129,099,075 (GRCm39) D467A probably damaging Het
Extl2 G A 3: 115,821,013 (GRCm39) A273T probably benign Het
Foxi3 T A 6: 70,937,500 (GRCm39) F218Y probably damaging Het
Golga2 A G 2: 32,194,166 (GRCm39) M521V probably benign Het
Gpr142 T A 11: 114,695,168 (GRCm39) N44K probably damaging Het
Gtf2ird2 A G 5: 134,245,061 (GRCm39) I440V probably benign Het
Gucy1b2 T A 14: 62,642,028 (GRCm39) K698I probably damaging Het
Hspa1b T C 17: 35,177,983 (GRCm39) M1V probably null Het
Ints9 T A 14: 65,245,521 (GRCm39) Y260N probably benign Het
Khdc3 T G 9: 73,010,768 (GRCm39) V182G possibly damaging Het
Ky A G 9: 102,414,798 (GRCm39) probably null Het
Map2k1 T A 9: 64,098,843 (GRCm39) I263F probably damaging Het
Or13a18 A C 7: 140,190,576 (GRCm39) I166L probably benign Het
Or2t47 T C 11: 58,442,877 (GRCm39) S63G probably benign Het
Or5ak25 A G 2: 85,269,241 (GRCm39) V87A probably benign Het
Otogl T A 10: 107,613,453 (GRCm39) H2004L probably benign Het
Palmd T C 3: 116,717,009 (GRCm39) H496R probably benign Het
Pcdh10 G A 3: 45,336,247 (GRCm39) G854R probably damaging Het
Pdcd11 A G 19: 47,101,976 (GRCm39) I1054V probably benign Het
Pik3ap1 A T 19: 41,364,545 (GRCm39) L58Q probably damaging Het
Ppp2ca A G 11: 51,989,937 (GRCm39) K21R probably benign Het
Prmt5 A C 14: 54,745,373 (GRCm39) I598S probably damaging Het
Pycr1 T A 11: 120,532,050 (GRCm39) I239F probably damaging Het
R3hdm2 C T 10: 127,334,285 (GRCm39) R896C probably damaging Het
Rev3l C T 10: 39,722,725 (GRCm39) P699S probably damaging Het
Samd1 CGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 8: 84,725,625 (GRCm39) probably benign Het
Sel1l A T 12: 91,791,658 (GRCm39) M351K possibly damaging Het
Sesn2 A G 4: 132,226,617 (GRCm39) L159P probably damaging Het
Slc35f4 T A 14: 49,540,946 (GRCm39) probably benign Het
Slc3a1 C A 17: 85,359,403 (GRCm39) N409K probably damaging Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slco1c1 T C 6: 141,492,502 (GRCm39) F246S probably damaging Het
Socs2 T G 10: 95,228,681 (GRCm39) I190L unknown Het
Srsf1 T A 11: 87,938,684 (GRCm39) I7N possibly damaging Het
Stox1 T A 10: 62,503,620 (GRCm39) H145L probably damaging Het
Trap1 A T 16: 3,874,286 (GRCm39) I243N probably damaging Het
Trav7-3 T C 14: 53,681,207 (GRCm39) I83T probably benign Het
Trmt9b T C 8: 36,979,078 (GRCm39) I227T probably benign Het
Tuft1 A T 3: 94,546,712 (GRCm39) I42K possibly damaging Het
Umps A G 16: 33,787,344 (GRCm39) V3A probably benign Het
Vim A C 2: 13,579,643 (GRCm39) E134A probably null Het
Vmn1r28 C A 6: 58,242,524 (GRCm39) H122Q probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Vsig10l T A 7: 43,120,274 (GRCm39) V760D probably damaging Het
Xrn1 A G 9: 95,927,596 (GRCm39) D1460G probably benign Het
Zfp282 A G 6: 47,874,824 (GRCm39) D343G probably damaging Het
Zfp35 A G 18: 24,136,778 (GRCm39) H374R probably damaging Het
Other mutations in Papolb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02445:Papolb APN 5 142,514,480 (GRCm39) missense probably benign 0.01
R0393:Papolb UTSW 5 142,515,211 (GRCm39) missense probably damaging 0.98
R4551:Papolb UTSW 5 142,514,933 (GRCm39) missense probably benign 0.30
R4552:Papolb UTSW 5 142,514,933 (GRCm39) missense probably benign 0.30
R4553:Papolb UTSW 5 142,514,933 (GRCm39) missense probably benign 0.30
R5121:Papolb UTSW 5 142,514,592 (GRCm39) missense probably benign 0.00
R5348:Papolb UTSW 5 142,514,972 (GRCm39) missense possibly damaging 0.66
R5861:Papolb UTSW 5 142,514,992 (GRCm39) missense possibly damaging 0.59
R6454:Papolb UTSW 5 142,515,353 (GRCm39) missense possibly damaging 0.77
R6860:Papolb UTSW 5 142,514,651 (GRCm39) missense possibly damaging 0.52
R6902:Papolb UTSW 5 142,513,906 (GRCm39) missense probably benign
R8145:Papolb UTSW 5 142,514,353 (GRCm39) missense probably benign
R8419:Papolb UTSW 5 142,514,296 (GRCm39) missense possibly damaging 0.77
Predicted Primers PCR Primer
(F):5'- TGATAACCGGCACAAAGGC -3'
(R):5'- AGCAGTTCGGCATATCGTC -3'

Sequencing Primer
(F):5'- GGCCTCCTCAACAGCTCTTAAATC -3'
(R):5'- GGCATATCGTCCCCCATCAG -3'
Posted On 2016-07-06