Incidental Mutation 'R7699:Prpf8'
ID 647893
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 045760-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R7699 (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 A at 75391022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1357 (M1357K)
Ref Sequence ENSEMBL: ENSMUSP00000018449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018449] [ENSMUST00000102510] [ENSMUST00000131283]
AlphaFold Q99PV0
Predicted Effect probably benign
Transcript: ENSMUST00000018449
AA Change: M1357K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: M1357K

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: M1357K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: M1357K

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
Meta Mutation Damage Score 0.7354 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (74/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 C A 9: 90,070,792 (GRCm39) P638T probably damaging Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Bcl2l2 C T 14: 55,121,836 (GRCm39) probably benign Het
Cacna1e A T 1: 154,319,674 (GRCm39) I1404N probably damaging Het
Cdc42se1 A G 3: 95,139,908 (GRCm39) N35D probably damaging Het
Cep290 A G 10: 100,376,231 (GRCm39) S1447G probably benign Het
Chd6 T A 2: 160,867,863 (GRCm39) H436L probably benign Het
Cnbd2 T C 2: 156,217,326 (GRCm39) V605A probably benign Het
Col22a1 T A 15: 71,845,700 (GRCm39) D354V probably damaging Het
Col25a1 T A 3: 130,316,128 (GRCm39) probably null Het
Cttnbp2 T A 6: 18,514,734 (GRCm39) M1L possibly damaging Het
Cux1 A T 5: 136,514,593 (GRCm39) probably null Het
Cylc2 T A 4: 51,229,335 (GRCm39) S226T unknown Het
Cyp4b1 T C 4: 115,499,162 (GRCm39) D68G probably benign Het
Dicer1 A C 12: 104,671,429 (GRCm39) L947R probably damaging Het
Dmp1 T C 5: 104,359,590 (GRCm39) S89P probably damaging Het
Dpf1 A G 7: 29,011,032 (GRCm39) K144E possibly damaging Het
Emc1 T A 4: 139,082,181 (GRCm39) H94Q probably benign Het
Ep300 C T 15: 81,470,594 (GRCm39) probably benign Het
Epha10 T C 4: 124,796,440 (GRCm39) I383T Het
Epo T A 5: 137,483,438 (GRCm39) E5D probably benign Het
Esp15 G A 17: 39,955,624 (GRCm39) V64I possibly damaging Het
Fbxl18 A T 5: 142,871,504 (GRCm39) V577E probably damaging Het
Fhl4 A T 10: 84,934,113 (GRCm39) C223S probably damaging Het
Fhl4 A T 10: 84,934,379 (GRCm39) I134N probably benign Het
Frmpd2 G T 14: 33,264,895 (GRCm39) M891I probably benign Het
Gk2 T C 5: 97,604,257 (GRCm39) I194V probably benign Het
Glt8d2 A C 10: 82,498,122 (GRCm39) probably null Het
Gm12886 G C 4: 121,273,876 (GRCm39) H113Q possibly damaging Het
Hycc1 A G 5: 24,120,494 (GRCm39) S345P probably damaging Het
Ighv1-36 A T 12: 114,843,646 (GRCm39) Y71* probably null Het
Il18bp A G 7: 101,666,029 (GRCm39) W50R probably damaging Het
Jmjd1c T A 10: 67,054,195 (GRCm39) I33K probably benign Het
Lama5 C T 2: 179,822,654 (GRCm39) A2833T probably damaging Het
Manea T G 4: 26,340,758 (GRCm39) N68T probably benign Het
Map1a T C 2: 121,130,201 (GRCm39) L339P probably damaging Het
Mblac1 A C 5: 138,192,919 (GRCm39) D87A probably damaging Het
Mmp24 C T 2: 155,640,096 (GRCm39) T142I probably damaging Het
Mpp2 T A 11: 101,950,261 (GRCm39) H531L probably damaging Het
Mtmr7 G A 8: 41,059,927 (GRCm39) A62V possibly damaging Het
Mx1 T A 16: 97,249,521 (GRCm39) I339F unknown Het
Naip2 G A 13: 100,296,877 (GRCm39) T1053I probably benign Het
Nckap1l A G 15: 103,371,248 (GRCm39) probably null Het
Or51f23c-ps1 A G 7: 102,431,529 (GRCm39) Y282C possibly damaging Het
Or5an1b T C 19: 12,299,841 (GRCm39) T117A probably benign Het
Otud7b T C 3: 96,063,280 (GRCm39) F840L probably damaging Het
Pdzd8 T C 19: 59,333,373 (GRCm39) Y216C probably damaging Het
Pkd1l1 T A 11: 8,915,142 (GRCm39) I133F Het
Plaur A G 7: 24,173,692 (GRCm39) N221S possibly damaging Het
Plin4 T C 17: 56,410,828 (GRCm39) T1068A probably benign Het
Plxnd1 T C 6: 115,936,755 (GRCm39) D1659G probably damaging Het
Prr36 G T 8: 4,263,989 (GRCm39) T559N unknown Het
Prss46 A G 9: 110,678,622 (GRCm39) M2V probably benign Het
Rbpms T A 8: 34,354,391 (GRCm39) E51D probably damaging Het
Rere C T 4: 150,701,555 (GRCm39) R328W Het
Retnla T A 16: 48,663,176 (GRCm39) N26K probably benign Het
Rubcnl G A 14: 75,269,404 (GRCm39) V21I probably benign Het
Safb T A 17: 56,908,504 (GRCm39) S598R unknown Het
Sertad4 A G 1: 192,529,175 (GRCm39) S214P possibly damaging Het
Sin3a C T 9: 57,017,938 (GRCm39) Q786* probably null Het
Slc8a3 A C 12: 81,361,247 (GRCm39) L524W probably damaging Het
Sp3 T C 2: 72,801,573 (GRCm39) T191A probably benign Het
Sp9 T C 2: 73,103,724 (GRCm39) S93P probably damaging Het
Tbrg1 A C 9: 37,560,771 (GRCm39) H368Q probably benign Het
Tinagl1 T G 4: 130,061,832 (GRCm39) Q198H probably benign Het
Usp19 C T 9: 108,373,371 (GRCm39) R648* probably null Het
Vmn2r124 A G 17: 18,293,985 (GRCm39) M691V probably benign Het
Vmn2r2 T A 3: 64,024,536 (GRCm39) M682L possibly damaging Het
Vps13d T A 4: 144,811,975 (GRCm39) H3344L Het
Vwa3a G A 7: 120,351,841 (GRCm39) G35E probably damaging Het
Zfhx3 A G 8: 109,677,754 (GRCm39) S2935G probably benign Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,706,067 (GRCm39) probably benign Het
Zfp758 C A 17: 22,594,646 (GRCm39) Y377* probably null Het
Zfp952 A G 17: 33,220,983 (GRCm39) K67R possibly 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
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'- TATTCTACACCCCTAAGGAGCTG -3'
(R):5'- CCAAAAGCTGTGTGATTGGC -3'

Sequencing Primer
(F):5'- GATGGGCCATGTGCTTATCCC -3'
(R):5'- GTGATTGGCACACTCTCTGCATG -3'
Posted On 2020-09-02