Incidental Mutation 'R5620:Prpf8'
ID 439798
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 043160-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R5620 (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 75395927 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1934 (S1934P)
Ref Sequence ENSEMBL: ENSMUSP00000099568 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018449] [ENSMUST00000042972] [ENSMUST00000102510]
AlphaFold Q99PV0
Predicted Effect possibly damaging
Transcript: ENSMUST00000018449
AA Change: S1934P

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: S1934P

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: ENSMUST00000042972
SMART Domains Protein: ENSMUSP00000037238
Gene: ENSMUSG00000038195

DomainStartEndE-ValueType
low complexity region 14 24 N/A INTRINSIC
Pfam:Jnk-SapK_ap_N 27 195 2.1e-16 PFAM
Pfam:RILP 223 281 1.1e-21 PFAM
low complexity region 289 298 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000102510
AA Change: S1934P

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: S1934P

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A C 15: 102,246,826 (GRCm39) S511A probably benign Het
Abca3 C T 17: 24,615,444 (GRCm39) T845I probably benign Het
Acaa2 G A 18: 74,938,945 (GRCm39) A377T possibly damaging Het
Adcy4 C A 14: 56,009,824 (GRCm39) E743* probably null Het
Ahnak T A 19: 8,990,458 (GRCm39) L3914* probably null Het
Akap1 G T 11: 88,736,343 (GRCm39) N106K possibly damaging Het
Arid2 C T 15: 96,270,387 (GRCm39) T1500I probably benign Het
Atp6v0a2 T A 5: 124,783,909 (GRCm39) Y252* probably null Het
C4bp A G 1: 130,581,090 (GRCm39) S140P probably damaging Het
Cald1 A G 6: 34,739,047 (GRCm39) I384M probably damaging Het
Cdk12 A G 11: 98,101,809 (GRCm39) I556V unknown Het
Chmp2a T C 7: 12,766,237 (GRCm39) S174G probably benign Het
Clybl T A 14: 122,548,755 (GRCm39) N52K probably damaging Het
Cyp4a29 C A 4: 115,108,088 (GRCm39) S303R probably benign Het
Dab2 T A 15: 6,447,796 (GRCm39) D59E probably damaging Het
Dag1 C A 9: 108,086,214 (GRCm39) R309L probably damaging Het
Dync1i2 T A 2: 71,088,483 (GRCm39) M505K probably benign Het
Eif2b1 A T 5: 124,717,075 (GRCm39) M1K probably null Het
Epc1 A G 18: 6,448,917 (GRCm39) S577P probably benign Het
Eps8l1 T A 7: 4,463,945 (GRCm39) I23N possibly damaging Het
Etl4 A G 2: 20,535,037 (GRCm39) E164G probably damaging Het
Firrm C A 1: 163,789,613 (GRCm39) G641* probably null Het
Gadl1 A T 9: 115,766,230 (GRCm39) M1L probably benign Het
Gda T C 19: 21,374,908 (GRCm39) D336G probably damaging Het
Grm2 A T 9: 106,527,645 (GRCm39) V413D probably damaging Het
Hnrnpll G T 17: 80,346,051 (GRCm39) N403K probably damaging Het
Ifit1 T A 19: 34,625,238 (GRCm39) F125I probably damaging Het
Igkv5-43 C T 6: 69,800,892 (GRCm39) V2I probably benign Het
Kat5 A C 19: 5,659,507 (GRCm39) Y44* probably null Het
Klc2 A G 19: 5,162,884 (GRCm39) V205A probably damaging Het
Klrb1c T A 6: 128,761,706 (GRCm39) T133S possibly damaging Het
Krt20 A G 11: 99,326,283 (GRCm39) L157P probably damaging Het
Krt26 G T 11: 99,228,597 (GRCm39) T45N possibly damaging Het
Lama2 C T 10: 26,866,876 (GRCm39) D2873N probably damaging Het
Lig1 T A 7: 13,020,532 (GRCm39) C114S possibly damaging Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Maml2 A T 9: 13,608,616 (GRCm39) R21S probably damaging Het
Mrpl35 C T 6: 71,794,720 (GRCm39) V83I probably benign Het
Myo3b A G 2: 70,069,254 (GRCm39) R498G probably benign Het
Nup153 C A 13: 46,837,482 (GRCm39) E1247* probably null Het
Or2t48 A T 11: 58,420,557 (GRCm39) M85K probably damaging Het
Pcdhac2 A G 18: 37,277,257 (GRCm39) N79S probably benign Het
Pcgf6 C T 19: 47,036,406 (GRCm39) G221D probably damaging Het
Phf11b C T 14: 59,558,953 (GRCm39) D260N probably benign Het
Pla2g5 T C 4: 138,531,921 (GRCm39) M28V possibly damaging Het
Prr5 A G 15: 84,640,570 (GRCm39) S140G probably benign Het
Prrc2c T C 1: 162,501,098 (GRCm39) D1235G probably damaging Het
Rasgrp2 T C 19: 6,455,031 (GRCm39) S254P probably damaging Het
Rassf8 C T 6: 145,765,907 (GRCm39) probably benign Het
Rgs20 T A 1: 4,982,666 (GRCm39) E167D probably damaging Het
Rmnd1 G T 10: 4,372,159 (GRCm39) A180E probably damaging Het
Rnf103 A G 6: 71,486,992 (GRCm39) D541G probably benign Het
Rpl9 G T 5: 65,546,468 (GRCm39) Q140K probably benign Het
Sfmbt1 T G 14: 30,506,148 (GRCm39) probably null Het
Shank1 C A 7: 43,962,160 (GRCm39) D10E unknown Het
Srrm4 G T 5: 116,587,672 (GRCm39) probably benign Het
Sucla2 T A 14: 73,832,836 (GRCm39) V447E probably damaging Het
Tbc1d1 A G 5: 64,331,055 (GRCm39) D78G probably benign Het
Tcp1 T A 17: 13,138,224 (GRCm39) probably null Het
Tctn3 C A 19: 40,597,361 (GRCm39) E230* probably null Het
Thsd7b G A 1: 130,090,673 (GRCm39) probably null Het
Tmem63a A G 1: 180,797,811 (GRCm39) M621V probably benign Het
Tnxb A T 17: 34,936,504 (GRCm39) K2756* probably null Het
Trpm8 G A 1: 88,287,373 (GRCm39) probably null Het
Txndc16 C A 14: 45,373,335 (GRCm39) V764F possibly damaging Het
Ush2a A T 1: 188,492,020 (GRCm39) D3103V possibly damaging Het
Usp22 A T 11: 61,049,206 (GRCm39) I381N probably damaging Het
Zfp462 T A 4: 55,013,464 (GRCm39) M1810K probably benign Het
Zfp64 T A 2: 168,741,888 (GRCm39) M347L possibly damaging Het
Zfp69 T C 4: 120,787,719 (GRCm39) D532G 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
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 PCR Primer
(F):5'- ATGCTTAGGAAGAGGGCCTC -3'
(R):5'- TAGTCAGCCAAGATCAGATCCTTG -3'

Sequencing Primer
(F):5'- GTTCTCCAGAAGCCACTTGATGAG -3'
(R):5'- AGATCAGATCCTTGAGCTGTACC -3'
Posted On 2016-11-08