Incidental Mutation 'R8560:Prpf8'
ID 661001
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 068523-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R8560 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 75377642-75400275 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 75382600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 435 (C435*)
Ref Sequence ENSEMBL: ENSMUSP00000018449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018449] [ENSMUST00000102510] [ENSMUST00000131283]
AlphaFold Q99PV0
Predicted Effect probably null
Transcript: ENSMUST00000018449
AA Change: C435*
SMART Domains Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: C435*

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 null
Transcript: ENSMUST00000102510
AA Change: C435*
SMART Domains Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: C435*

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 null
Transcript: ENSMUST00000131283
AA Change: C380*
SMART Domains Protein: ENSMUSP00000115635
Gene: ENSMUSG00000020850
AA Change: C380*

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: 99.5%
  • 20x: 98.6%
Validation Efficiency 98% (62/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,958,374 (GRCm39) V819A unknown Het
Ahi1 T C 10: 20,835,814 (GRCm39) V49A probably benign Het
BB014433 GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG 8: 15,092,160 (GRCm39) probably benign Het
Ccdc87 C T 19: 4,891,901 (GRCm39) R798W probably damaging Het
Cd163 T C 6: 124,294,360 (GRCm39) L506S possibly damaging Het
Chsy3 T C 18: 59,543,130 (GRCm39) V756A possibly damaging Het
Cisd3 G T 11: 97,576,689 (GRCm39) W5L possibly damaging Het
Coro1c A T 5: 113,984,249 (GRCm39) H339Q probably damaging Het
Cybc1 G T 11: 121,115,041 (GRCm39) A154D probably damaging Het
D630045J12Rik T A 6: 38,126,649 (GRCm39) I1454F probably damaging Het
Dab2ip T C 2: 35,603,144 (GRCm39) S448P probably damaging Het
Dennd5a A G 7: 109,533,898 (GRCm39) probably null Het
Depdc1a A G 3: 159,219,912 (GRCm39) K139E probably damaging Het
Dock6 T C 9: 21,714,132 (GRCm39) K1874R probably benign Het
Dst A G 1: 34,307,970 (GRCm39) H4229R probably damaging Het
Esyt3 T C 9: 99,202,375 (GRCm39) D512G probably damaging Het
Fastkd5 T A 2: 130,457,865 (GRCm39) I242L probably benign Het
Foxo3 G A 10: 42,151,278 (GRCm39) T51M possibly damaging Het
Gcfc2 T C 6: 81,900,863 (GRCm39) V59A possibly damaging Het
Gm14410 C A 2: 176,885,445 (GRCm39) C273F probably damaging Het
Gucy1b1 G T 3: 81,942,685 (GRCm39) P486T probably damaging Het
Hydin A G 8: 111,265,106 (GRCm39) N2763S probably benign Het
Ifna2 C A 4: 88,601,502 (GRCm39) W172L possibly damaging Het
Igkv6-29 T C 6: 70,115,651 (GRCm39) N48D probably benign Het
Il17ra C A 6: 120,459,226 (GRCm39) D792E possibly damaging Het
Kcnh5 G T 12: 75,023,379 (GRCm39) A563E probably damaging Het
Klra4 C A 6: 130,042,235 (GRCm39) V11L probably benign Het
Krt13 T C 11: 100,009,676 (GRCm39) E368G possibly damaging Het
Lrpprc T A 17: 85,047,495 (GRCm39) probably benign Het
Mal2 T C 15: 54,461,826 (GRCm39) I107T probably benign Het
Mc4r T C 18: 66,992,166 (GRCm39) I316V possibly damaging Het
Mdn1 T A 4: 32,743,830 (GRCm39) V4022E probably benign Het
Med12l A G 3: 58,945,026 (GRCm39) N84D probably damaging Het
Mx1 T G 16: 97,253,987 (GRCm39) T298P probably damaging Het
Myh7 T C 14: 55,213,405 (GRCm39) E1367G possibly damaging Het
Myh7b A G 2: 155,465,124 (GRCm39) E660G possibly damaging Het
Nbeal1 T A 1: 60,274,316 (GRCm39) N242K probably benign Het
Nsun5 A G 5: 135,404,743 (GRCm39) T435A probably benign Het
Or14j4 C T 17: 37,920,949 (GRCm39) S231N possibly damaging Het
Or4q3 T A 14: 50,583,794 (GRCm39) D4V probably benign Het
Or5b109 T C 19: 13,211,656 (GRCm39) L14P possibly damaging Het
Pcdhb17 C T 18: 37,619,206 (GRCm39) T332M possibly damaging Het
Pi4k2a C T 19: 42,089,151 (GRCm39) Q171* probably null Het
Plb1 T C 5: 32,460,023 (GRCm39) V421A possibly damaging Het
Prkag2 TTTTTTTTTTTTA T 5: 25,071,063 (GRCm39) probably benign Het
Prlhr A G 19: 60,456,635 (GRCm39) probably benign Het
Rnf183 T A 4: 62,346,735 (GRCm39) N21I probably damaging Het
Rnf41 T A 10: 128,274,222 (GRCm39) C291* probably null Het
Shd T C 17: 56,278,616 (GRCm39) S60P probably benign Het
Slc16a5 A G 11: 115,360,545 (GRCm39) T243A probably benign Het
Slc33a1 A T 3: 63,850,773 (GRCm39) I517N possibly damaging Het
Slc4a1 A C 11: 102,244,083 (GRCm39) M682R possibly damaging Het
Sphk2 A T 7: 45,361,514 (GRCm39) N245K probably damaging Het
Stx7 T C 10: 24,057,454 (GRCm39) I160T possibly damaging Het
Thbs4 T C 13: 92,891,608 (GRCm39) I836V probably damaging Het
Tmc5 A T 7: 118,268,514 (GRCm39) N861Y probably damaging Het
Trappc5 T A 8: 3,729,303 (GRCm39) W94R probably damaging Het
Trmt44 T C 5: 35,715,295 (GRCm39) I673V probably benign Het
Ttn T C 2: 76,571,615 (GRCm39) Y26426C probably damaging Het
Wdr81 C T 11: 75,336,260 (GRCm39) G591R Het
Zfp236 G A 18: 82,664,340 (GRCm39) R482W probably damaging Het
Zfp51 T A 17: 21,685,635 (GRCm39) M750K 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
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
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 PCR Primer
(F):5'- AACCTACGCTCTGGTCGTAC -3'
(R):5'- TTTGAAAGAACGGAACAGATACCTG -3'

Sequencing Primer
(F):5'- CTCTGGTCGTACCCGCC -3'
(R):5'- TACCTGGGTAAAAATAGAGATGAGC -3'
Posted On 2021-03-08