Incidental Mutation 'R0893:Prpf8'
ID 83604
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 039056-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R0893 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 75486816-75509449 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75493949 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 718 (K718E)
Ref Sequence ENSEMBL: ENSMUSP00000115635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018449] [ENSMUST00000102510] [ENSMUST00000131283]
AlphaFold Q99PV0
Predicted Effect possibly damaging
Transcript: ENSMUST00000018449
AA Change: K773E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: K773E

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: K773E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: K773E

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: K718E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115635
Gene: ENSMUSG00000020850
AA Change: K718E

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
Meta Mutation Damage Score 0.6930 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency 99% (77/78)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,219,308 (GRCm38) probably benign Het
4921501E09Rik T C 17: 33,065,289 (GRCm38) I846M probably benign Het
Adnp A T 2: 168,183,727 (GRCm38) F549L possibly damaging Het
Agl A G 3: 116,753,286 (GRCm38) I1305T probably benign Het
Aldh8a1 T A 10: 21,391,694 (GRCm38) M326K probably benign Het
Amdhd1 A T 10: 93,527,651 (GRCm38) M295K probably damaging Het
Arhgef4 T A 1: 34,807,110 (GRCm38) C324S probably damaging Het
Car8 A T 4: 8,238,119 (GRCm38) probably null Het
Cc2d1a T C 8: 84,140,839 (GRCm38) probably benign Het
Cd81 G A 7: 143,062,505 (GRCm38) V27M possibly damaging Het
Ces1b A T 8: 93,079,428 (GRCm38) S62T probably benign Het
Cfb A G 17: 34,858,055 (GRCm38) S30P probably damaging Het
Cmtm3 A G 8: 104,343,911 (GRCm38) M101V possibly damaging Het
Cul7 T A 17: 46,663,190 (GRCm38) L1467H probably damaging Het
Ddb1 C T 19: 10,612,916 (GRCm38) S269L probably benign Het
Ddx25 G A 9: 35,554,390 (GRCm38) Q143* probably null Het
Dis3l2 T A 1: 87,044,206 (GRCm38) probably null Het
Dlgap4 G T 2: 156,745,978 (GRCm38) E598* probably null Het
Dus1l C T 11: 120,789,436 (GRCm38) G471D possibly damaging Het
Elp4 C A 2: 105,896,945 (GRCm38) probably benign Het
Eya3 A G 4: 132,689,786 (GRCm38) N194S probably benign Het
Gm9992 A G 17: 7,374,527 (GRCm38) L174P probably damaging Het
Golgb1 G T 16: 36,912,277 (GRCm38) V629L possibly damaging Het
Hars2 G A 18: 36,787,595 (GRCm38) A164T possibly damaging Het
Hexb T A 13: 97,185,627 (GRCm38) I217L probably benign Het
Hgh1 A G 15: 76,369,648 (GRCm38) probably null Het
Hsd3b3 A T 3: 98,742,441 (GRCm38) probably null Het
Ighg2c T A 12: 113,287,433 (GRCm38) N321Y unknown Het
Il5 A G 11: 53,720,936 (GRCm38) T34A probably benign Het
Jph1 C A 1: 17,004,283 (GRCm38) E504* probably null Het
Kif2b G T 11: 91,575,594 (GRCm38) T621K probably benign Het
Kmt2c A T 5: 25,351,270 (GRCm38) probably benign Het
Leprotl1 A G 8: 34,138,852 (GRCm38) probably null Het
Lpar3 C T 3: 146,240,593 (GRCm38) R9C possibly damaging Het
Map1a A G 2: 121,300,533 (GRCm38) E372G probably damaging Het
Map2 C A 1: 66,380,768 (GRCm38) T86K probably damaging Het
Map7 A G 10: 20,273,883 (GRCm38) probably null Het
Mdn1 T C 4: 32,701,713 (GRCm38) V1482A probably benign Het
Mks1 G A 11: 87,856,951 (GRCm38) probably benign Het
Morf4l1 T G 9: 90,102,350 (GRCm38) K102N probably damaging Het
Mroh1 T A 15: 76,408,938 (GRCm38) V304D possibly damaging Het
Mtg1 G A 7: 140,149,752 (GRCm38) V252M probably damaging Het
Myh13 A T 11: 67,334,601 (GRCm38) D264V probably damaging Het
Myh2 A G 11: 67,186,508 (GRCm38) Y823C possibly damaging Het
Myoz1 A T 14: 20,651,184 (GRCm38) S112R probably benign Het
Ncapd2 A G 6: 125,173,482 (GRCm38) V860A probably benign Het
Nfix G A 8: 84,726,526 (GRCm38) R300C probably damaging Het
Npffr1 T C 10: 61,614,231 (GRCm38) F95L possibly damaging Het
Olfr585 G T 7: 103,098,434 (GRCm38) R231L probably benign Het
Olfr877 T C 9: 37,855,196 (GRCm38) I126T probably damaging Het
Orc4 A C 2: 48,932,610 (GRCm38) probably benign Het
P3h3 A C 6: 124,845,513 (GRCm38) I565R probably damaging Het
Pak4 T C 7: 28,559,777 (GRCm38) D552G probably benign Het
Pcdhb4 G T 18: 37,309,370 (GRCm38) probably null Het
Pdcd4 G T 19: 53,929,094 (GRCm38) R454L probably damaging Het
Pkd1l2 A G 8: 117,044,492 (GRCm38) I1116T probably damaging Het
Plcb2 A G 2: 118,725,105 (GRCm38) probably benign Het
Pmpca T C 2: 26,393,218 (GRCm38) probably benign Het
Pnpla7 T A 2: 24,997,240 (GRCm38) I32N probably damaging Het
Racgap1 C T 15: 99,626,530 (GRCm38) A359T probably benign Het
Rgs3 G A 4: 62,605,561 (GRCm38) probably null Het
Rhpn1 A G 15: 75,711,654 (GRCm38) E356G probably damaging Het
Rps6ka5 T C 12: 100,574,438 (GRCm38) H488R possibly damaging Het
Scn11a A G 9: 119,803,330 (GRCm38) probably null Het
Sema4f A T 6: 82,935,967 (GRCm38) probably benign Het
Serpina1f A G 12: 103,693,835 (GRCm38) S63P probably damaging Het
Slc9a3 T C 13: 74,159,246 (GRCm38) W386R probably damaging Het
Slc9b1 A C 3: 135,394,890 (GRCm38) L465F probably benign Het
Smc5 A G 19: 23,263,653 (GRCm38) V165A possibly damaging Het
Tex10 C T 4: 48,456,800 (GRCm38) R637Q probably benign Het
Tinagl1 G T 4: 130,174,023 (GRCm38) D59E probably damaging Het
Tns3 A G 11: 8,493,302 (GRCm38) Y354H probably damaging Het
Trappc9 C T 15: 72,590,107 (GRCm38) G1103D probably damaging Het
Unc79 A T 12: 102,991,428 (GRCm38) D34V probably damaging Het
Unc80 T C 1: 66,521,486 (GRCm38) L791P probably damaging Het
Xpo7 G T 14: 70,666,097 (GRCm38) probably benign Het
Zbtb1 T A 12: 76,385,339 (GRCm38) I33N 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
IGL02141:Prpf8 APN 11 75,490,672 (GRCm38) missense possibly damaging 0.68
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
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
Predicted Primers PCR Primer
(F):5'- ACATCCCTTGGAAGGTAGGCTCTC -3'
(R):5'- TAAGGCCCATCCTGGAAGGTGAAC -3'

Sequencing Primer
(F):5'- caatctgcctccgcctc -3'
(R):5'- TGGAAGGTGAACGTCAGGTTAG -3'
Posted On 2013-11-08