Incidental Mutation 'R5861:Papolb'
ID 453900
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 044073-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5861 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 142513495-142515831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 142514992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 217 (N217S)
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: N217S

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100595
Gene: ENSMUSG00000074817
AA Change: N217S

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 0.1073 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.3%
Validation Efficiency 98% (81/83)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,218,644 (GRCm39) T246N probably damaging Het
Aopep A G 13: 63,446,626 (GRCm39) D143G probably damaging Het
Arhgap10 C T 8: 78,037,393 (GRCm39) A612T probably damaging Het
Arsg T A 11: 109,454,014 (GRCm39) F407I probably damaging Het
Asxl1 C A 2: 153,241,310 (GRCm39) A620D probably damaging Het
C2cd3 A G 7: 100,093,682 (GRCm39) probably benign Het
Chn2 G A 6: 54,267,359 (GRCm39) V92I probably damaging Het
Cog2 T C 8: 125,264,617 (GRCm39) F332S probably damaging Het
Crhbp G A 13: 95,580,333 (GRCm39) A82V probably damaging Het
Cyp2j6 A G 4: 96,434,040 (GRCm39) V90A possibly damaging Het
Dennd4c A T 4: 86,709,589 (GRCm39) M397L probably benign Het
Dnajb8 A G 6: 88,200,088 (GRCm39) D208G possibly damaging Het
Ecm1 G C 3: 95,643,909 (GRCm39) L230V probably damaging Het
Ercc2 G C 7: 19,128,066 (GRCm39) A696P possibly damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gm13035 A G 4: 146,009,859 (GRCm39) noncoding transcript Het
Gm28042 T C 2: 119,865,116 (GRCm39) V247A probably damaging Het
Gm28455 T A 7: 39,148,003 (GRCm39) noncoding transcript Het
Gpr150 A T 13: 76,204,192 (GRCm39) V251D possibly damaging Het
Grip1 C T 10: 119,765,875 (GRCm39) S69L probably damaging Het
Hs6st3 A G 14: 119,376,265 (GRCm39) I147V possibly damaging Het
Il5 G A 11: 53,614,743 (GRCm39) E102K probably benign Het
Kif1c T C 11: 70,594,621 (GRCm39) F94L probably damaging Het
Lrrc63 T C 14: 75,344,806 (GRCm39) E427G possibly damaging Het
Man1b1 A G 2: 25,238,066 (GRCm39) T384A probably benign Het
Mapk15 C A 15: 75,868,208 (GRCm39) probably benign Het
Mfsd10 T C 5: 34,791,588 (GRCm39) probably benign Het
Mgat5 C A 1: 127,315,129 (GRCm39) A285E probably damaging Het
Mroh4 T A 15: 74,478,456 (GRCm39) probably benign Het
Myf5 A T 10: 107,320,069 (GRCm39) C194S probably benign Het
Myh7 A G 14: 55,226,347 (GRCm39) V431A possibly damaging Het
Nadsyn1 A C 7: 143,364,964 (GRCm39) M247R possibly damaging Het
Nipsnap3b A G 4: 53,021,177 (GRCm39) D166G probably damaging Het
Nqo2 A T 13: 34,156,413 (GRCm39) L42F probably damaging Het
Nt5dc3 A T 10: 86,651,738 (GRCm39) D180V probably damaging Het
Numa1 C A 7: 101,658,494 (GRCm39) probably null Het
Olfm3 T A 3: 114,916,052 (GRCm39) L328Q probably damaging Het
Or4e1 T C 14: 52,700,953 (GRCm39) Y171C probably damaging Het
Or5w17 A T 2: 87,583,922 (GRCm39) N138K probably benign Het
Or7a37 A T 10: 78,805,765 (GRCm39) Y94F probably damaging Het
Pcmtd2 C A 2: 181,484,268 (GRCm39) T26K probably damaging Het
Pld5 T G 1: 175,917,571 (GRCm39) N59H probably damaging Het
Ppm1d T C 11: 85,202,674 (GRCm39) S126P possibly damaging Het
Ppp1r21 T C 17: 88,889,937 (GRCm39) L727P probably damaging Het
Pramel20 G T 4: 143,297,810 (GRCm39) V77L probably benign Het
Prpsap2 C T 11: 61,627,870 (GRCm39) R202H probably damaging Het
Rara T A 11: 98,858,987 (GRCm39) C148* probably null Het
Rexo2 A T 9: 48,386,481 (GRCm39) I83N probably damaging Het
Rnf213 A G 11: 119,364,203 (GRCm39) R4501G probably damaging Het
Rps5 T A 7: 12,659,501 (GRCm39) F97L probably damaging Het
Sigirr G A 7: 140,671,292 (GRCm39) R397W probably damaging Het
Slc6a6 T C 6: 91,718,014 (GRCm39) Y318H probably damaging Het
Spam1 A G 6: 24,796,570 (GRCm39) T174A probably benign Het
Stam2 G T 2: 52,632,116 (GRCm39) probably benign Het
Taar7a T C 10: 23,868,337 (GRCm39) E348G probably benign Het
Taf11 T C 17: 28,120,644 (GRCm39) T209A probably benign Het
Tenm4 A G 7: 96,492,424 (GRCm39) probably benign Het
Tmed6 G T 8: 107,790,786 (GRCm39) T87K probably damaging Het
Trim5 G T 7: 103,928,726 (GRCm39) H72N probably benign Het
Trim5 A C 7: 103,928,728 (GRCm39) L71R probably benign Het
Uevld A T 7: 46,576,104 (GRCm39) S461T probably benign Het
Vmn2r6 T A 3: 64,463,454 (GRCm39) N460I probably benign Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zfp316 T C 5: 143,249,095 (GRCm39) Y180C unknown Het
Zfp941 A G 7: 140,392,052 (GRCm39) S436P probably damaging Het
Zfp979 G A 4: 147,697,966 (GRCm39) Q248* probably null Het
Zscan29 G T 2: 120,994,518 (GRCm39) T489N 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
R5261:Papolb UTSW 5 142,515,409 (GRCm39) missense possibly damaging 0.85
R5348:Papolb UTSW 5 142,514,972 (GRCm39) missense possibly damaging 0.66
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'- TGGATTTGGCCATTCCCAC -3'
(R):5'- AGGCCTTTGTGCCGGTTATC -3'

Sequencing Primer
(F):5'- TTTGGCCATTCCCACTCAGAAAAC -3'
(R):5'- CTTTGTGCCGGTTATCAAACTG -3'
Posted On 2017-02-10