Incidental Mutation 'R9166:Prpf8'
ID 696075
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R9166 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 75377642-75400275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75387340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 1207 (F1207S)
Ref Sequence ENSEMBL: ENSMUSP00000018449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018449] [ENSMUST00000102510] [ENSMUST00000131283]
AlphaFold Q99PV0
Predicted Effect possibly damaging
Transcript: ENSMUST00000018449
AA Change: F1207S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: F1207S

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: F1207S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: F1207S

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 benign
Transcript: ENSMUST00000131283
SMART Domains Protein: ENSMUSP00000115635
Gene: ENSMUSG00000020850

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (70/70)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik A G 16: 90,853,046 (GRCm39) L30P possibly damaging Het
Adgrb1 A C 15: 74,420,475 (GRCm39) M875L probably benign Het
Amot A T X: 144,244,745 (GRCm39) L435H Het
Ankrd13c T A 3: 157,705,357 (GRCm39) S427T probably benign Het
Aopep G A 13: 63,318,862 (GRCm39) probably null Het
Ap3b1 A C 13: 94,608,236 (GRCm39) Y569S probably damaging Het
Bco2 A G 9: 50,447,667 (GRCm39) V352A probably benign Het
Bltp1 T A 3: 37,041,516 (GRCm39) N2630K probably damaging Het
Cacnb1 T A 11: 97,910,534 (GRCm39) D48V probably damaging Het
Cdr2l C A 11: 115,283,537 (GRCm39) Q132K probably benign Het
Chrd T C 16: 20,554,572 (GRCm39) M377T probably benign Het
Coq7 T C 7: 118,109,365 (GRCm39) T228A unknown Het
D7Ertd443e G A 7: 133,900,048 (GRCm39) T438I probably benign Het
Dlc1 C T 8: 37,066,589 (GRCm39) E15K probably damaging Het
Dlgap5 C T 14: 47,651,206 (GRCm39) R109Q probably damaging Het
Dysf T C 6: 84,126,959 (GRCm39) V1359A probably damaging Het
E2f7 C T 10: 110,618,085 (GRCm39) P717S probably benign Het
Elmo2 T C 2: 165,132,438 (GRCm39) D669G probably benign Het
Epha6 A G 16: 60,425,238 (GRCm39) V125A probably benign Het
Erg G T 16: 95,190,807 (GRCm39) H119N probably benign Het
Fam13b T C 18: 34,595,252 (GRCm39) S371G probably benign Het
Fancg G C 4: 43,006,800 (GRCm39) Q297E probably benign Het
Gas2 A G 7: 51,586,323 (GRCm39) E145G possibly damaging Het
Gas7 T C 11: 67,561,446 (GRCm39) V218A probably benign Het
Gm9970 A G 5: 31,398,345 (GRCm39) S78P unknown Het
Hectd4 A C 5: 121,446,690 (GRCm39) D259A probably damaging Het
Hoxb2 T G 11: 96,244,339 (GRCm39) S317A probably damaging Het
Hspg2 T C 4: 137,270,185 (GRCm39) L2381P probably damaging Het
Irf4 A T 13: 30,941,484 (GRCm39) H280L probably benign Het
Irf7 A G 7: 140,844,666 (GRCm39) V142A probably benign Het
Kat7 T C 11: 95,190,928 (GRCm39) I94V probably benign Het
Kera T A 10: 97,448,830 (GRCm39) I350K possibly damaging Het
Klf15 T C 6: 90,443,952 (GRCm39) S176P probably benign Het
Lrrc59 C A 11: 94,522,959 (GRCm39) T53N probably benign Het
Morn5 T C 2: 35,945,024 (GRCm39) Y83H probably damaging Het
Myef2l A G 3: 10,153,849 (GRCm39) N206S probably benign Het
Neil3 A C 8: 54,058,722 (GRCm39) M273R probably damaging Het
Ngfr A T 11: 95,465,047 (GRCm39) V267E possibly damaging Het
Nudc T C 4: 133,273,165 (GRCm39) D11G probably damaging Het
Or2t1 A T 14: 14,329,059 (GRCm38) D316V probably benign Het
Or4a81 T A 2: 89,619,291 (GRCm39) N135I probably damaging Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Pik3cg C T 12: 32,242,213 (GRCm39) G966R probably damaging Het
Ppfibp1 A G 6: 146,920,980 (GRCm39) T573A probably damaging Het
Ppp2r5a C A 1: 191,128,504 (GRCm39) R37L probably benign Het
Prtg A T 9: 72,764,107 (GRCm39) I527F probably damaging Het
Pspc1 A G 14: 56,999,305 (GRCm39) M317T probably damaging Het
Ptpru C T 4: 131,525,180 (GRCm39) V768I probably benign Het
Ptx4 A G 17: 25,343,546 (GRCm39) probably null Het
Ralgapb T C 2: 158,274,842 (GRCm39) probably null Het
Rhobtb2 C A 14: 70,034,703 (GRCm39) G174V probably damaging Het
Sdad1 G T 5: 92,446,080 (GRCm39) S285* probably null Het
Sema4f G T 6: 82,890,626 (GRCm39) S727* probably null Het
Sik1 A G 17: 32,069,727 (GRCm39) F241L probably damaging Het
Slc8b1 T C 5: 120,662,096 (GRCm39) S279P probably benign Het
Slco4a1 A G 2: 180,106,034 (GRCm39) E72G probably benign Het
Smok3c A T 5: 138,063,781 (GRCm39) T423S possibly damaging Het
Sorcs3 T C 19: 48,784,811 (GRCm39) V1078A probably benign Het
Sptb A G 12: 76,673,776 (GRCm39) V337A probably damaging Het
Tet2 C A 3: 133,173,933 (GRCm39) G1443V probably damaging Het
Ticam2 A T 18: 46,694,048 (GRCm39) L13H probably damaging Het
Tnrc6a A G 7: 122,786,624 (GRCm39) E1562G probably damaging Het
Trim24 A T 6: 37,934,074 (GRCm39) K742N probably damaging Het
Trim56 A T 5: 137,142,751 (GRCm39) V255E probably damaging Het
Trmt12 A G 15: 58,744,608 (GRCm39) E2G probably benign Het
Tubd1 A T 11: 86,452,091 (GRCm39) T353S probably benign Het
Vim T C 2: 13,579,556 (GRCm39) V105A probably benign Het
Vmn2r58 A T 7: 41,513,431 (GRCm39) V404E probably damaging Het
Wdr62 G A 7: 29,941,874 (GRCm39) P1115L probably damaging Het
Wfdc12 G T 2: 164,032,193 (GRCm39) C32* probably null Het
Zfp750 T A 11: 121,403,980 (GRCm39) R298S probably damaging 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
R4510:Prpf8 UTSW 11 75,382,652 (GRCm39) missense probably damaging 0.96
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
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 PCR Primer
(F):5'- GACTGAAGTGCCTCTGTGTTC -3'
(R):5'- GTGTTAACTTGTCTCAGAAACTCCC -3'

Sequencing Primer
(F):5'- AAGTGCCTCTGTGTTCTCTGGATAG -3'
(R):5'- AAGGTGCTGTTTACCAAGCC -3'
Posted On 2022-02-07