Incidental Mutation 'IGL02141:Prpf8'
ID 281551
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prpf8
Ensembl Gene ENSMUSG00000020850
Gene Name pre-mRNA processing factor 8
Synonyms Sfprp8l, D11Bwg0410e, DBF3/PRP8, Prp8
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # IGL02141
Quality Score
Status
Chromosome 11
Chromosomal Location 75486816-75509449 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75490672 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 300 (N300D)
Ref Sequence ENSEMBL: ENSMUSP00000099568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018449] [ENSMUST00000102510] [ENSMUST00000131283]
AlphaFold Q99PV0
Predicted Effect possibly damaging
Transcript: ENSMUST00000018449
AA Change: N300D

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: N300D

DomainStartEndE-ValueType
Pfam:PRO8NT 58 209 1.6e-84 PFAM
low complexity region 369 388 N/A INTRINSIC
Pfam:PROCN 393 801 3.6e-226 PFAM
low complexity region 802 814 N/A INTRINSIC
Pfam:RRM_4 986 1079 7.1e-49 PFAM
Pfam:U5_2-snRNA_bdg 1208 1343 1.9e-73 PFAM
Pfam:U6-snRNA_bdg 1442 1601 3.7e-97 PFAM
Pfam:PRP8_domainIV 1760 1990 1.5e-132 PFAM
JAB_MPN 2099 2233 9.02e-30 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000102510
AA Change: N300D

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: N300D

DomainStartEndE-ValueType
Pfam:PRO8NT 58 209 1.6e-90 PFAM
low complexity region 369 388 N/A INTRINSIC
Pfam:PROCN 395 801 2.9e-239 PFAM
low complexity region 802 814 N/A INTRINSIC
Pfam:RRM_4 986 1077 1.5e-51 PFAM
Pfam:U5_2-snRNA_bdg 1210 1343 1.1e-77 PFAM
Pfam:U6-snRNA_bdg 1442 1600 4.2e-97 PFAM
Pfam:PRP8_domainIV 1760 1989 9.8e-134 PFAM
JAB_MPN 2099 2233 9.02e-30 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000131283
AA Change: N245D

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115635
Gene: ENSMUSG00000020850
AA Change: N245D

DomainStartEndE-ValueType
Pfam:PRO8NT 58 92 1.9e-13 PFAM
Pfam:PRO8NT 90 154 2.5e-30 PFAM
low complexity region 314 333 N/A INTRINSIC
Pfam:PROCN 338 746 1.7e-226 PFAM
low complexity region 747 759 N/A INTRINSIC
Pfam:RRM_4 931 1024 5.3e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133995
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice that are either heterozygous or homozygous for a knock-in allele exhibit abnormal retinal pigment epithelium morphology and late-onset retinal degeneration. These changes are more severe in homozygous mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,183,465 (GRCm38) A188T probably benign Het
2310022B05Rik A T 8: 124,637,906 (GRCm38) probably benign Het
4931423N10Rik T C 2: 23,230,200 (GRCm38) F203L probably damaging Het
Arntl2 T A 6: 146,828,095 (GRCm38) probably benign Het
Atf6b C A 17: 34,653,277 (GRCm38) H539Q probably benign Het
Bpifb5 G T 2: 154,229,557 (GRCm38) probably null Het
Cep89 T A 7: 35,420,924 (GRCm38) M377K probably damaging Het
Clpx G T 9: 65,312,118 (GRCm38) probably null Het
Cops5 T C 1: 10,035,117 (GRCm38) K47E probably damaging Het
Cryba2 T C 1: 74,892,784 (GRCm38) N35S probably benign Het
Ddx27 A G 2: 167,020,523 (GRCm38) K162E possibly damaging Het
Dhx36 A G 3: 62,493,889 (GRCm38) S319P probably benign Het
Dram2 A G 3: 106,571,696 (GRCm38) probably benign Het
Eci2 T A 13: 34,978,673 (GRCm38) T300S probably benign Het
Egf C A 3: 129,739,982 (GRCm38) G70* probably null Het
Eif5b T C 1: 38,032,322 (GRCm38) V444A probably benign Het
Elf3 T C 1: 135,257,707 (GRCm38) D23G possibly damaging Het
Epb41l4b A T 4: 57,103,422 (GRCm38) probably null Het
Fam167a T A 14: 63,452,259 (GRCm38) S2T probably benign Het
Flrt3 A G 2: 140,660,688 (GRCm38) V340A probably damaging Het
Gimap3 T C 6: 48,765,378 (GRCm38) E206G probably benign Het
Gp6 T C 7: 4,394,104 (GRCm38) probably benign Het
Gpr158 A T 2: 21,783,290 (GRCm38) M581L probably damaging Het
Hapln3 A G 7: 79,118,145 (GRCm38) V167A probably damaging Het
Hnrnpll G A 17: 80,050,713 (GRCm38) T203I probably benign Het
Ighv3-6 A G 12: 114,288,362 (GRCm38) I47T probably damaging Het
Iqgap1 G A 7: 80,738,121 (GRCm38) T926M probably damaging Het
Lonp1 A T 17: 56,615,086 (GRCm38) S765T probably benign Het
Lpp C T 16: 24,761,615 (GRCm38) S27F probably damaging Het
Lrit2 T C 14: 37,068,074 (GRCm38) probably benign Het
Luc7l C A 17: 26,253,080 (GRCm38) T17K probably damaging Het
Mroh1 G T 15: 76,446,599 (GRCm38) S1161I possibly damaging Het
Muc5b T G 7: 141,853,367 (GRCm38) C1091G unknown Het
Mut A G 17: 40,938,817 (GRCm38) T228A possibly damaging Het
Nppb A T 4: 147,986,006 (GRCm38) I11F probably benign Het
Nsf A T 11: 103,828,525 (GRCm38) D650E probably benign Het
Ogdh A G 11: 6,355,015 (GRCm38) K907E probably damaging Het
Olfr1351 A G 10: 79,017,721 (GRCm38) Y133C probably damaging Het
Olfr344 A G 2: 36,568,808 (GRCm38) D70G probably damaging Het
Olfr362 G A 2: 37,105,425 (GRCm38) S75F probably benign Het
Pcnx A T 12: 81,860,382 (GRCm38) Q4L possibly damaging Het
Pgc T A 17: 47,726,931 (GRCm38) L9H probably damaging Het
Pikfyve T A 1: 65,246,397 (GRCm38) S887T probably benign Het
Plec T C 15: 76,175,615 (GRCm38) D3239G probably damaging Het
Pole4 T C 6: 82,648,034 (GRCm38) T116A probably benign Het
Rara T A 11: 98,968,081 (GRCm38) Y119N probably damaging Het
Rbck1 G T 2: 152,318,374 (GRCm38) R462S possibly damaging Het
Setdb2 C T 14: 59,402,315 (GRCm38) R709Q probably damaging Het
Slfn2 C A 11: 83,069,844 (GRCm38) N216K probably benign Het
Suox A G 10: 128,672,098 (GRCm38) probably benign Het
Tars T A 15: 11,391,194 (GRCm38) Y283F probably damaging Het
Trpm4 A T 7: 45,318,179 (GRCm38) probably null Het
Ubtd2 A T 11: 32,499,262 (GRCm38) K36N probably benign Het
Unkl T C 17: 25,229,434 (GRCm38) L327P probably damaging Het
Vmn1r11 T A 6: 57,137,379 (GRCm38) Y9* probably null Het
Vps13b T C 15: 35,572,081 (GRCm38) V948A probably benign Het
Zbtb17 A G 4: 141,464,953 (GRCm38) H403R probably damaging Het
Other mutations in Prpf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01375:Prpf8 APN 11 75,494,295 (GRCm38) missense possibly damaging 0.94
IGL01376:Prpf8 APN 11 75,494,295 (GRCm38) missense possibly damaging 0.94
IGL01393:Prpf8 APN 11 75,494,295 (GRCm38) missense possibly damaging 0.94
IGL01395:Prpf8 APN 11 75,494,295 (GRCm38) missense possibly damaging 0.94
IGL01554:Prpf8 APN 11 75,495,646 (GRCm38) missense probably damaging 1.00
IGL01560:Prpf8 APN 11 75,490,406 (GRCm38) missense possibly damaging 0.55
IGL01886:Prpf8 APN 11 75,495,744 (GRCm38) missense probably benign 0.32
IGL01946:Prpf8 APN 11 75,499,992 (GRCm38) missense probably damaging 1.00
IGL02022:Prpf8 APN 11 75,501,834 (GRCm38) nonsense probably null
IGL02077:Prpf8 APN 11 75,495,809 (GRCm38) missense probably damaging 0.96
IGL02455:Prpf8 APN 11 75,509,258 (GRCm38) missense probably benign 0.32
cutter UTSW 11 75,495,426 (GRCm38) splice site probably null
BB009:Prpf8 UTSW 11 75,492,597 (GRCm38) missense possibly damaging 0.92
BB019:Prpf8 UTSW 11 75,492,597 (GRCm38) missense possibly damaging 0.92
PIT4514001:Prpf8 UTSW 11 75,496,355 (GRCm38) missense possibly damaging 0.53
R0254:Prpf8 UTSW 11 75,506,362 (GRCm38) missense possibly damaging 0.93
R0270:Prpf8 UTSW 11 75,505,249 (GRCm38) missense probably damaging 0.99
R0504:Prpf8 UTSW 11 75,501,942 (GRCm38) splice site probably benign
R0573:Prpf8 UTSW 11 75,490,654 (GRCm38) missense probably damaging 1.00
R0613:Prpf8 UTSW 11 75,503,444 (GRCm38) missense probably damaging 1.00
R0893:Prpf8 UTSW 11 75,493,949 (GRCm38) missense probably damaging 1.00
R0967:Prpf8 UTSW 11 75,494,430 (GRCm38) missense probably damaging 1.00
R0975:Prpf8 UTSW 11 75,508,674 (GRCm38) unclassified probably benign
R1123:Prpf8 UTSW 11 75,495,285 (GRCm38) missense probably damaging 1.00
R1183:Prpf8 UTSW 11 75,490,330 (GRCm38) missense possibly damaging 0.95
R1857:Prpf8 UTSW 11 75,495,423 (GRCm38) critical splice donor site probably null
R1901:Prpf8 UTSW 11 75,504,744 (GRCm38) missense probably damaging 0.99
R1950:Prpf8 UTSW 11 75,496,511 (GRCm38) missense possibly damaging 0.72
R2116:Prpf8 UTSW 11 75,487,721 (GRCm38) missense possibly damaging 0.51
R2147:Prpf8 UTSW 11 75,490,531 (GRCm38) missense probably benign
R2185:Prpf8 UTSW 11 75,487,113 (GRCm38) nonsense probably null
R2271:Prpf8 UTSW 11 75,495,363 (GRCm38) missense probably damaging 1.00
R2272:Prpf8 UTSW 11 75,495,363 (GRCm38) missense probably damaging 1.00
R2898:Prpf8 UTSW 11 75,496,034 (GRCm38) missense probably benign 0.00
R3744:Prpf8 UTSW 11 75,506,721 (GRCm38) splice site probably null
R3893:Prpf8 UTSW 11 75,500,257 (GRCm38) missense possibly damaging 0.73
R4400:Prpf8 UTSW 11 75,490,702 (GRCm38) missense possibly damaging 0.63
R4510:Prpf8 UTSW 11 75,491,826 (GRCm38) missense probably damaging 0.96
R4511:Prpf8 UTSW 11 75,491,826 (GRCm38) missense probably damaging 0.96
R4784:Prpf8 UTSW 11 75,492,505 (GRCm38) missense probably damaging 1.00
R5089:Prpf8 UTSW 11 75,509,228 (GRCm38) splice site probably null
R5186:Prpf8 UTSW 11 75,489,783 (GRCm38) missense possibly damaging 0.93
R5215:Prpf8 UTSW 11 75,500,204 (GRCm38) missense probably benign 0.02
R5288:Prpf8 UTSW 11 75,495,799 (GRCm38) missense probably damaging 1.00
R5362:Prpf8 UTSW 11 75,506,410 (GRCm38) missense possibly damaging 0.53
R5384:Prpf8 UTSW 11 75,495,799 (GRCm38) missense probably damaging 1.00
R5386:Prpf8 UTSW 11 75,495,799 (GRCm38) missense probably damaging 1.00
R5423:Prpf8 UTSW 11 75,508,958 (GRCm38) missense probably damaging 1.00
R5472:Prpf8 UTSW 11 75,503,643 (GRCm38) missense possibly damaging 0.89
R5539:Prpf8 UTSW 11 75,503,638 (GRCm38) missense probably benign 0.20
R5620:Prpf8 UTSW 11 75,505,101 (GRCm38) missense possibly damaging 0.95
R5669:Prpf8 UTSW 11 75,504,738 (GRCm38) missense probably damaging 1.00
R5887:Prpf8 UTSW 11 75,500,908 (GRCm38) missense possibly damaging 0.87
R5948:Prpf8 UTSW 11 75,509,189 (GRCm38) missense possibly damaging 0.95
R6073:Prpf8 UTSW 11 75,494,022 (GRCm38) critical splice donor site probably null
R6250:Prpf8 UTSW 11 75,493,508 (GRCm38) missense possibly damaging 0.95
R6358:Prpf8 UTSW 11 75,491,495 (GRCm38) missense probably benign 0.33
R6629:Prpf8 UTSW 11 75,495,426 (GRCm38) splice site probably null
R6804:Prpf8 UTSW 11 75,499,809 (GRCm38) missense possibly damaging 0.71
R6922:Prpf8 UTSW 11 75,490,736 (GRCm38) missense probably damaging 1.00
R7035:Prpf8 UTSW 11 75,504,828 (GRCm38) missense possibly damaging 0.72
R7038:Prpf8 UTSW 11 75,496,158 (GRCm38) missense probably benign 0.02
R7089:Prpf8 UTSW 11 75,508,548 (GRCm38) missense probably damaging 0.99
R7101:Prpf8 UTSW 11 75,490,400 (GRCm38) missense possibly damaging 0.85
R7114:Prpf8 UTSW 11 75,503,355 (GRCm38) nonsense probably null
R7182:Prpf8 UTSW 11 75,490,727 (GRCm38) missense possibly damaging 0.96
R7290:Prpf8 UTSW 11 75,493,957 (GRCm38) missense possibly damaging 0.85
R7323:Prpf8 UTSW 11 75,491,784 (GRCm38) missense probably benign 0.32
R7485:Prpf8 UTSW 11 75,508,912 (GRCm38) nonsense probably null
R7522:Prpf8 UTSW 11 75,509,276 (GRCm38) missense possibly damaging 0.82
R7546:Prpf8 UTSW 11 75,508,374 (GRCm38) missense probably damaging 1.00
R7596:Prpf8 UTSW 11 75,491,504 (GRCm38) missense probably benign 0.03
R7699:Prpf8 UTSW 11 75,500,196 (GRCm38) missense probably benign 0.02
R7731:Prpf8 UTSW 11 75,508,906 (GRCm38) missense probably damaging 0.97
R7821:Prpf8 UTSW 11 75,494,474 (GRCm38) missense probably benign 0.01
R7932:Prpf8 UTSW 11 75,492,597 (GRCm38) missense possibly damaging 0.92
R8039:Prpf8 UTSW 11 75,502,542 (GRCm38) missense possibly damaging 0.95
R8067:Prpf8 UTSW 11 75,500,150 (GRCm38) missense probably damaging 0.98
R8316:Prpf8 UTSW 11 75,499,815 (GRCm38) missense possibly damaging 0.71
R8560:Prpf8 UTSW 11 75,491,774 (GRCm38) nonsense probably null
R8823:Prpf8 UTSW 11 75,493,456 (GRCm38) missense probably benign 0.05
R8977:Prpf8 UTSW 11 75,496,044 (GRCm38) missense probably benign 0.12
R9116:Prpf8 UTSW 11 75,489,763 (GRCm38) missense possibly damaging 0.71
R9166:Prpf8 UTSW 11 75,496,514 (GRCm38) missense possibly damaging 0.53
R9360:Prpf8 UTSW 11 75,490,330 (GRCm38) missense possibly damaging 0.95
R9453:Prpf8 UTSW 11 75,506,386 (GRCm38) missense possibly damaging 0.56
R9518:Prpf8 UTSW 11 75,503,660 (GRCm38) missense possibly damaging 0.72
R9532:Prpf8 UTSW 11 75,494,782 (GRCm38) missense probably benign 0.01
R9626:Prpf8 UTSW 11 75,494,855 (GRCm38) missense possibly damaging 0.53
R9760:Prpf8 UTSW 11 75,503,431 (GRCm38) missense probably benign 0.20
X0028:Prpf8 UTSW 11 75,506,764 (GRCm38) missense probably damaging 0.99
Z1177:Prpf8 UTSW 11 75,503,334 (GRCm38) missense probably benign 0.35
Posted On 2015-04-16