Incidental Mutation 'R4510:Prpf8'
ID 470178
Institutional Source Beutler Lab
Gene Symbol Prpf8
Ensembl Gene ENSMUSG00000020850
Gene Name pre-mRNA processing factor 8
Synonyms Sfprp8l, D11Bwg0410e, DBF3/PRP8, Prp8
MMRRC Submission 041585-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R4510 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 75377642-75400275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75382652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 398 (Y398H)
Ref Sequence ENSEMBL: ENSMUSP00000115635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018449] [ENSMUST00000102510] [ENSMUST00000131283]
AlphaFold Q99PV0
Predicted Effect probably benign
Transcript: ENSMUST00000018449
AA Change: Y453H

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: Y453H

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 probably benign
Transcript: ENSMUST00000102510
AA Change: Y453H

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: Y453H

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 probably damaging
Transcript: ENSMUST00000131283
AA Change: Y398H

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000115635
Gene: ENSMUSG00000020850
AA Change: Y398H

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
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 96% (50/52)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,100,819 (GRCm39) D397E probably benign Het
Abcc10 A G 17: 46,618,136 (GRCm39) F1005L probably damaging Het
Ackr4 T C 9: 103,975,930 (GRCm39) E339G probably benign Het
Adam39 G T 8: 41,279,328 (GRCm39) C573F probably damaging Het
Anks1b A G 10: 90,346,652 (GRCm39) T651A probably benign Het
Aoc1 C A 6: 48,884,740 (GRCm39) H594Q probably damaging Het
Arid1a A C 4: 133,423,010 (GRCm39) probably benign Het
Atp4a G T 7: 30,423,678 (GRCm39) E928* probably null Het
Atp5pf T C 16: 84,624,862 (GRCm39) D104G probably benign Het
Atp8b5 A G 4: 43,320,629 (GRCm39) T206A probably damaging Het
Atrn G A 2: 130,777,497 (GRCm39) W182* probably null Het
Bltp2 T C 11: 78,168,154 (GRCm39) S1530P possibly damaging Het
Cacna1e G A 1: 154,437,579 (GRCm39) T257I probably damaging Het
Caskin1 G A 17: 24,725,602 (GRCm39) S1296N probably benign Het
Crebrf A G 17: 26,961,938 (GRCm39) Y345C probably benign Het
Cyp26b1 G A 6: 84,551,473 (GRCm39) R248W probably damaging Het
Dclk3 C A 9: 111,297,060 (GRCm39) H201Q probably benign Het
Ddx17 A T 15: 79,422,793 (GRCm39) V315E probably damaging Het
Dhrs11 T C 11: 84,716,342 (GRCm39) *51W probably null Het
Fgfr4 C A 13: 55,309,328 (GRCm39) P455Q possibly damaging Het
Gabbr1 A G 17: 37,380,103 (GRCm39) K697E probably damaging Het
Gcnt1 G A 19: 17,307,641 (GRCm39) T28I probably benign Het
Gga2 G A 7: 121,620,301 (GRCm39) T4M unknown Het
Gm12185 T A 11: 48,799,305 (GRCm39) H396L possibly damaging Het
Gm21976 A G 13: 98,441,839 (GRCm39) R123G probably benign Het
Hecw1 A C 13: 14,531,776 (GRCm39) V166G probably damaging Het
Hpx A G 7: 105,241,295 (GRCm39) V372A possibly damaging Het
Igkv2-109 A G 6: 68,279,962 (GRCm39) Y61C probably damaging Het
Igsf1 A G X: 48,875,050 (GRCm39) F789S probably damaging Het
Il4ra A G 7: 125,175,280 (GRCm39) D496G possibly damaging Het
Ilf3 A G 9: 21,310,511 (GRCm39) T547A possibly damaging Het
Insrr C A 3: 87,715,978 (GRCm39) P558T possibly damaging Het
Ints9 A G 14: 65,266,381 (GRCm39) D411G possibly damaging Het
Irak3 T A 10: 119,981,813 (GRCm39) H393L probably damaging Het
Isx G A 8: 75,600,298 (GRCm39) M10I probably benign Het
Itga11 A G 9: 62,668,870 (GRCm39) D709G probably damaging Het
Kcng2 G T 18: 80,338,930 (GRCm39) R453S probably benign Het
Kif5b A G 18: 6,214,011 (GRCm39) V664A probably benign Het
Lalba A G 15: 98,380,422 (GRCm39) L44P probably benign Het
Ldlrad1 T G 4: 107,066,715 (GRCm39) F17V probably benign Het
Lnx1 C T 5: 74,780,853 (GRCm39) D382N probably damaging Het
Lrp1 T C 10: 127,429,717 (GRCm39) Y451C probably damaging Het
Lrp2 A T 2: 69,310,406 (GRCm39) N2722K possibly damaging Het
Mctp1 G A 13: 76,973,391 (GRCm39) V431I probably benign Het
Mmrn2 T C 14: 34,125,016 (GRCm39) F866L possibly damaging Het
Mylk2 A G 2: 152,759,330 (GRCm39) E367G probably damaging Het
Nfatc1 A G 18: 80,678,794 (GRCm39) S865P probably damaging Het
Nol6 G C 4: 41,123,526 (GRCm39) T74R probably damaging Het
Notch2 T C 3: 98,053,637 (GRCm39) M2100T probably benign Het
Parp1 A G 1: 180,418,841 (GRCm39) K667R possibly damaging Het
Phlda3 A G 1: 135,694,400 (GRCm39) T72A probably damaging Het
Polg T C 7: 79,105,270 (GRCm39) Q758R probably benign Het
Polq G A 16: 36,868,925 (GRCm39) R765H probably damaging Het
Pramel19 A T 4: 101,798,757 (GRCm39) M243L probably benign Het
Prkd1 T C 12: 50,439,762 (GRCm39) D355G possibly damaging Het
Ripk1 T C 13: 34,210,731 (GRCm39) Y309H probably damaging Het
Rngtt A T 4: 33,339,032 (GRCm39) Q279L possibly damaging Het
Rusf1 A T 7: 127,875,312 (GRCm39) F319Y probably damaging Het
Samd4 T A 14: 47,315,042 (GRCm39) V114D probably benign Het
Sec23ip G A 7: 128,380,900 (GRCm39) E956K probably damaging Het
Slc4a1ap A T 5: 31,684,747 (GRCm39) T128S probably benign Het
Slc5a11 A T 7: 122,834,858 (GRCm39) I6F probably benign Het
Slc6a19 A C 13: 73,832,094 (GRCm39) L494R probably damaging Het
Slc6a21 A G 7: 44,936,713 (GRCm39) D189G probably damaging Het
Slc7a1 G T 5: 148,277,372 (GRCm39) A381D probably damaging Het
Smc4 T A 3: 68,923,980 (GRCm39) probably null Het
Stk19 T C 17: 35,051,504 (GRCm39) E17G probably damaging Het
Tekt5 A C 16: 10,175,877 (GRCm39) V556G probably benign Het
Tenm4 T C 7: 96,544,070 (GRCm39) F2029L probably benign Het
Thnsl1 T C 2: 21,217,236 (GRCm39) V330A probably damaging Het
Tnfrsf21 A G 17: 43,375,910 (GRCm39) D432G probably damaging Het
Tnip1 T A 11: 54,817,616 (GRCm39) S244C probably benign Het
Tnrc6c A T 11: 117,633,784 (GRCm39) N1294I possibly damaging Het
Trpm3 A G 19: 22,965,381 (GRCm39) I1625M probably benign Het
Ttn A T 2: 76,575,773 (GRCm39) V25040E probably damaging Het
Vwa5a A G 9: 38,633,853 (GRCm39) N19D possibly damaging Het
Washc2 A T 6: 116,197,517 (GRCm39) D250V probably damaging Het
Xpo1 A G 11: 23,237,401 (GRCm39) T755A possibly damaging Het
Zfp462 C T 4: 55,008,934 (GRCm39) T300I possibly damaging Het
Zfp937 A C 2: 150,080,431 (GRCm39) T154P probably damaging Het
Zzef1 A G 11: 72,778,996 (GRCm39) D1819G probably benign Het
Other mutations in Prpf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01375:Prpf8 APN 11 75,385,121 (GRCm39) missense possibly damaging 0.94
IGL01376:Prpf8 APN 11 75,385,121 (GRCm39) missense possibly damaging 0.94
IGL01393:Prpf8 APN 11 75,385,121 (GRCm39) missense possibly damaging 0.94
IGL01395:Prpf8 APN 11 75,385,121 (GRCm39) missense possibly damaging 0.94
IGL01554:Prpf8 APN 11 75,386,472 (GRCm39) missense probably damaging 1.00
IGL01560:Prpf8 APN 11 75,381,232 (GRCm39) missense possibly damaging 0.55
IGL01886:Prpf8 APN 11 75,386,570 (GRCm39) missense probably benign 0.32
IGL01946:Prpf8 APN 11 75,390,818 (GRCm39) missense probably damaging 1.00
IGL02022:Prpf8 APN 11 75,392,660 (GRCm39) nonsense probably null
IGL02077:Prpf8 APN 11 75,386,635 (GRCm39) missense probably damaging 0.96
IGL02141:Prpf8 APN 11 75,381,498 (GRCm39) missense possibly damaging 0.68
IGL02455:Prpf8 APN 11 75,400,084 (GRCm39) missense probably benign 0.32
cutter UTSW 11 75,386,252 (GRCm39) splice site probably null
BB009:Prpf8 UTSW 11 75,383,423 (GRCm39) missense possibly damaging 0.92
BB019:Prpf8 UTSW 11 75,383,423 (GRCm39) missense possibly damaging 0.92
PIT4514001:Prpf8 UTSW 11 75,387,181 (GRCm39) missense possibly damaging 0.53
R0254:Prpf8 UTSW 11 75,397,188 (GRCm39) missense possibly damaging 0.93
R0270:Prpf8 UTSW 11 75,396,075 (GRCm39) missense probably damaging 0.99
R0504:Prpf8 UTSW 11 75,392,768 (GRCm39) splice site probably benign
R0573:Prpf8 UTSW 11 75,381,480 (GRCm39) missense probably damaging 1.00
R0613:Prpf8 UTSW 11 75,394,270 (GRCm39) missense probably damaging 1.00
R0893:Prpf8 UTSW 11 75,384,775 (GRCm39) missense probably damaging 1.00
R0967:Prpf8 UTSW 11 75,385,256 (GRCm39) missense probably damaging 1.00
R0975:Prpf8 UTSW 11 75,399,500 (GRCm39) unclassified probably benign
R1123:Prpf8 UTSW 11 75,386,111 (GRCm39) missense probably damaging 1.00
R1183:Prpf8 UTSW 11 75,381,156 (GRCm39) missense possibly damaging 0.95
R1857:Prpf8 UTSW 11 75,386,249 (GRCm39) critical splice donor site probably null
R1901:Prpf8 UTSW 11 75,395,570 (GRCm39) missense probably damaging 0.99
R1950:Prpf8 UTSW 11 75,387,337 (GRCm39) missense possibly damaging 0.72
R2116:Prpf8 UTSW 11 75,378,547 (GRCm39) missense possibly damaging 0.51
R2147:Prpf8 UTSW 11 75,381,357 (GRCm39) missense probably benign
R2185:Prpf8 UTSW 11 75,377,939 (GRCm39) nonsense probably null
R2271:Prpf8 UTSW 11 75,386,189 (GRCm39) missense probably damaging 1.00
R2272:Prpf8 UTSW 11 75,386,189 (GRCm39) missense probably damaging 1.00
R2898:Prpf8 UTSW 11 75,386,860 (GRCm39) missense probably benign 0.00
R3744:Prpf8 UTSW 11 75,397,547 (GRCm39) splice site probably null
R3893:Prpf8 UTSW 11 75,391,083 (GRCm39) missense possibly damaging 0.73
R4400:Prpf8 UTSW 11 75,381,528 (GRCm39) missense possibly damaging 0.63
R4511:Prpf8 UTSW 11 75,382,652 (GRCm39) missense probably damaging 0.96
R4784:Prpf8 UTSW 11 75,383,331 (GRCm39) missense probably damaging 1.00
R5089:Prpf8 UTSW 11 75,400,054 (GRCm39) splice site probably null
R5186:Prpf8 UTSW 11 75,380,609 (GRCm39) missense possibly damaging 0.93
R5215:Prpf8 UTSW 11 75,391,030 (GRCm39) missense probably benign 0.02
R5288:Prpf8 UTSW 11 75,386,625 (GRCm39) missense probably damaging 1.00
R5362:Prpf8 UTSW 11 75,397,236 (GRCm39) missense possibly damaging 0.53
R5384:Prpf8 UTSW 11 75,386,625 (GRCm39) missense probably damaging 1.00
R5386:Prpf8 UTSW 11 75,386,625 (GRCm39) missense probably damaging 1.00
R5423:Prpf8 UTSW 11 75,399,784 (GRCm39) missense probably damaging 1.00
R5472:Prpf8 UTSW 11 75,394,469 (GRCm39) missense possibly damaging 0.89
R5539:Prpf8 UTSW 11 75,394,464 (GRCm39) missense probably benign 0.20
R5620:Prpf8 UTSW 11 75,395,927 (GRCm39) missense possibly damaging 0.95
R5669:Prpf8 UTSW 11 75,395,564 (GRCm39) missense probably damaging 1.00
R5887:Prpf8 UTSW 11 75,391,734 (GRCm39) missense possibly damaging 0.87
R5948:Prpf8 UTSW 11 75,400,015 (GRCm39) missense possibly damaging 0.95
R6073:Prpf8 UTSW 11 75,384,848 (GRCm39) critical splice donor site probably null
R6250:Prpf8 UTSW 11 75,384,334 (GRCm39) missense possibly damaging 0.95
R6358:Prpf8 UTSW 11 75,382,321 (GRCm39) missense probably benign 0.33
R6629:Prpf8 UTSW 11 75,386,252 (GRCm39) splice site probably null
R6804:Prpf8 UTSW 11 75,390,635 (GRCm39) missense possibly damaging 0.71
R6922:Prpf8 UTSW 11 75,381,562 (GRCm39) missense probably damaging 1.00
R7035:Prpf8 UTSW 11 75,395,654 (GRCm39) missense possibly damaging 0.72
R7038:Prpf8 UTSW 11 75,386,984 (GRCm39) missense probably benign 0.02
R7089:Prpf8 UTSW 11 75,399,374 (GRCm39) missense probably damaging 0.99
R7101:Prpf8 UTSW 11 75,381,226 (GRCm39) missense possibly damaging 0.85
R7114:Prpf8 UTSW 11 75,394,181 (GRCm39) nonsense probably null
R7182:Prpf8 UTSW 11 75,381,553 (GRCm39) missense possibly damaging 0.96
R7290:Prpf8 UTSW 11 75,384,783 (GRCm39) missense possibly damaging 0.85
R7323:Prpf8 UTSW 11 75,382,610 (GRCm39) missense probably benign 0.32
R7485:Prpf8 UTSW 11 75,399,738 (GRCm39) nonsense probably null
R7522:Prpf8 UTSW 11 75,400,102 (GRCm39) missense possibly damaging 0.82
R7546:Prpf8 UTSW 11 75,399,200 (GRCm39) missense probably damaging 1.00
R7596:Prpf8 UTSW 11 75,382,330 (GRCm39) missense probably benign 0.03
R7699:Prpf8 UTSW 11 75,391,022 (GRCm39) missense probably benign 0.02
R7731:Prpf8 UTSW 11 75,399,732 (GRCm39) missense probably damaging 0.97
R7821:Prpf8 UTSW 11 75,385,300 (GRCm39) missense probably benign 0.01
R7932:Prpf8 UTSW 11 75,383,423 (GRCm39) missense possibly damaging 0.92
R8039:Prpf8 UTSW 11 75,393,368 (GRCm39) missense possibly damaging 0.95
R8067:Prpf8 UTSW 11 75,390,976 (GRCm39) missense probably damaging 0.98
R8316:Prpf8 UTSW 11 75,390,641 (GRCm39) missense possibly damaging 0.71
R8560:Prpf8 UTSW 11 75,382,600 (GRCm39) nonsense probably null
R8823:Prpf8 UTSW 11 75,384,282 (GRCm39) missense probably benign 0.05
R8977:Prpf8 UTSW 11 75,386,870 (GRCm39) missense probably benign 0.12
R9116:Prpf8 UTSW 11 75,380,589 (GRCm39) missense possibly damaging 0.71
R9166:Prpf8 UTSW 11 75,387,340 (GRCm39) missense possibly damaging 0.53
R9360:Prpf8 UTSW 11 75,381,156 (GRCm39) missense possibly damaging 0.95
R9453:Prpf8 UTSW 11 75,397,212 (GRCm39) missense possibly damaging 0.56
R9518:Prpf8 UTSW 11 75,394,486 (GRCm39) missense possibly damaging 0.72
R9532:Prpf8 UTSW 11 75,385,608 (GRCm39) missense probably benign 0.01
R9626:Prpf8 UTSW 11 75,385,681 (GRCm39) missense possibly damaging 0.53
R9760:Prpf8 UTSW 11 75,394,257 (GRCm39) missense probably benign 0.20
X0028:Prpf8 UTSW 11 75,397,590 (GRCm39) missense probably damaging 0.99
Z1177:Prpf8 UTSW 11 75,394,160 (GRCm39) missense probably benign 0.35
Predicted Primers
Posted On 2017-03-07