Incidental Mutation 'IGL02445:Papolb'
ID 293536
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Papolb
Ensembl Gene ENSMUSG00000074817
Gene Name poly (A) polymerase beta (testis specific)
Synonyms Papt, TPAP, Papola-ps, Plap-ps
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02445
Quality Score
Status
Chromosome 5
Chromosomal Location 142513495-142515831 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 142514480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 388 (H388Y)
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 probably benign
Transcript: ENSMUST00000099400
AA Change: H388Y

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000100595
Gene: ENSMUSG00000074817
AA Change: H388Y

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
Coding Region Coverage
Validation Efficiency
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,383,198 (GRCm39) T2127M probably damaging Het
Acp2 A G 2: 91,036,606 (GRCm39) D175G possibly damaging Het
Adamts12 T C 15: 11,286,798 (GRCm39) L801P probably damaging Het
Adcy10 T G 1: 165,398,313 (GRCm39) V1470G possibly damaging Het
Ankar T G 1: 72,705,524 (GRCm39) K829Q probably benign Het
Arhgef10l T C 4: 140,274,318 (GRCm39) Y531C probably benign Het
Atm T C 9: 53,365,630 (GRCm39) I2590V probably benign Het
Brme1 T A 8: 84,886,137 (GRCm39) M31K probably benign Het
Cblb T C 16: 51,986,668 (GRCm39) L485P probably damaging Het
Col4a1 T C 8: 11,283,911 (GRCm39) probably benign Het
Coprs T C 8: 13,935,797 (GRCm39) K74R possibly damaging Het
Cul3 A T 1: 80,281,886 (GRCm39) L31M possibly damaging Het
Cyp3a59 C A 5: 146,033,463 (GRCm39) Q200K probably benign Het
Ddx19b C A 8: 111,735,456 (GRCm39) V402L probably damaging Het
Disc1 T A 8: 125,875,142 (GRCm39) probably benign Het
Dsg4 C T 18: 20,579,307 (GRCm39) probably benign Het
Dspp A C 5: 104,324,963 (GRCm39) Y442S probably damaging Het
Dtl C T 1: 191,290,172 (GRCm39) probably null Het
Ezh1 A C 11: 101,101,513 (GRCm39) V175G possibly damaging Het
Hepacam2 C T 6: 3,483,481 (GRCm39) G100D probably damaging Het
Herc1 T A 9: 66,340,764 (GRCm39) H1704Q possibly damaging Het
Itprid2 G A 2: 79,487,842 (GRCm39) E642K probably damaging Het
Kif26a T C 12: 112,140,177 (GRCm39) S469P probably damaging Het
Lefty1 T C 1: 180,765,242 (GRCm39) M270T probably benign Het
Nap1l3 A T X: 121,305,752 (GRCm39) V322D probably damaging Het
Ndufv2 A G 17: 66,387,889 (GRCm39) probably benign Het
Or14j5 A T 17: 38,162,008 (GRCm39) H175L probably damaging Het
Or4p18 G A 2: 88,232,456 (GRCm39) T274I possibly damaging Het
Or8b55 T C 9: 38,726,901 (GRCm39) I34T possibly damaging Het
Otol1 A T 3: 69,935,367 (GRCm39) D453V probably damaging Het
Ppp1r10 A G 17: 36,237,094 (GRCm39) E128G probably damaging Het
Prss12 T A 3: 123,280,669 (GRCm39) D451E probably damaging Het
Psmc1 T C 12: 100,081,087 (GRCm39) probably benign Het
Pygo1 T A 9: 72,833,222 (GRCm39) I10N probably benign Het
Rab31 C T 17: 66,028,998 (GRCm39) probably null Het
Ret G A 6: 118,158,860 (GRCm39) T184I probably damaging Het
Rhd A T 4: 134,611,481 (GRCm39) M214L possibly damaging Het
Ripor3 C A 2: 167,834,682 (GRCm39) probably benign Het
Sec16a A G 2: 26,312,052 (GRCm39) L2036P probably benign Het
Slc26a3 C A 12: 31,507,051 (GRCm39) D335E possibly damaging Het
Taf6 A G 5: 138,182,756 (GRCm39) probably benign Het
Tnk2 T C 16: 32,494,408 (GRCm39) V442A probably benign Het
Virma A G 4: 11,527,029 (GRCm39) M1143V probably damaging Het
Vmn2r77 A T 7: 86,452,848 (GRCm39) R522* probably null Het
Vmn2r-ps129 A G 17: 23,227,393 (GRCm39) noncoding transcript Het
Zfp473 A G 7: 44,383,107 (GRCm39) C408R probably damaging Het
Other mutations in Papolb
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2015-04-16