Incidental Mutation 'R7089:Prpf8'
ID 550097
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 045183-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # R7089 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 75377642-75400275 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75399374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 2180 (T2180A)
Ref Sequence ENSEMBL: ENSMUSP00000018449 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018449] [ENSMUST00000042808] [ENSMUST00000042972] [ENSMUST00000102510] [ENSMUST00000118243]
AlphaFold Q99PV0
Predicted Effect probably damaging
Transcript: ENSMUST00000018449
AA Change: T2180A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000018449
Gene: ENSMUSG00000020850
AA Change: T2180A

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: ENSMUST00000042808
SMART Domains Protein: ENSMUSP00000044248
Gene: ENSMUSG00000038188

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF 54 90 2.16e1 SMART
EGF 101 133 1.36e1 SMART
EGF_like 165 193 4.55e1 SMART
EGF_Lam 225 263 8.78e-2 SMART
EGF_like 262 296 4.93e1 SMART
EGF 307 341 2.69e1 SMART
EGF 352 384 2.25e1 SMART
transmembrane domain 424 446 N/A INTRINSIC
low complexity region 520 535 N/A INTRINSIC
low complexity region 791 805 N/A INTRINSIC
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 probably damaging
Transcript: ENSMUST00000102510
AA Change: T2180A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099568
Gene: ENSMUSG00000020850
AA Change: T2180A

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: ENSMUST00000118243
SMART Domains Protein: ENSMUSP00000114090
Gene: ENSMUSG00000038188

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
EGF 54 90 2.16e1 SMART
EGF 101 133 1.36e1 SMART
EGF_like 165 193 4.55e1 SMART
EGF_Lam 225 263 8.78e-2 SMART
EGF_like 262 296 4.93e1 SMART
EGF 307 341 2.69e1 SMART
EGF 352 384 2.25e1 SMART
transmembrane domain 424 446 N/A INTRINSIC
Meta Mutation Damage Score 0.7706 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,226,927 (GRCm39) V494A probably benign Het
1700017B05Rik A T 9: 57,166,041 (GRCm39) L111Q probably damaging Het
Adgrf4 T G 17: 42,977,424 (GRCm39) I640L possibly damaging Het
Afdn T G 17: 14,111,074 (GRCm39) probably null Het
Ammecr1l A T 18: 31,894,877 (GRCm39) probably benign Het
Aox1 A T 1: 58,375,808 (GRCm39) Y879F probably benign Het
Arhgap45 G A 10: 79,862,181 (GRCm39) probably null Het
Arpp21 G T 9: 111,955,514 (GRCm39) H542N probably benign Het
Ccdc192 C T 18: 57,725,059 (GRCm39) T96I probably benign Het
Cdt1 G A 8: 123,298,719 (GRCm39) R452Q probably damaging Het
Clcn7 C T 17: 25,372,667 (GRCm39) H149Y Het
Clpp T G 17: 57,297,421 (GRCm39) W32G probably benign Het
Dnmt1 G T 9: 20,819,785 (GRCm39) L1572M probably damaging Het
Drd3 G T 16: 43,627,741 (GRCm39) R128S probably damaging Het
Elmo2 A T 2: 165,146,849 (GRCm39) F243I possibly damaging Het
Endou G A 15: 97,618,126 (GRCm39) P128L probably benign Het
Fat3 A G 9: 15,908,214 (GRCm39) M2596T probably benign Het
Fbxl16 A G 17: 26,035,703 (GRCm39) K100R probably benign Het
Fbxo10 A G 4: 45,062,230 (GRCm39) S99P possibly damaging Het
Fez1 A T 9: 36,778,999 (GRCm39) R225S probably benign Het
Gm14326 A T 2: 177,588,464 (GRCm39) H177Q probably damaging Het
Gm32742 T A 9: 51,054,546 (GRCm39) M1360L probably benign Het
Hspg2 T C 4: 137,271,677 (GRCm39) V2481A possibly damaging Het
Ifnl3 A G 7: 28,223,283 (GRCm39) K101E probably benign Het
Il15 A T 8: 83,064,204 (GRCm39) S77R probably damaging Het
Ints13 T C 6: 146,476,216 (GRCm39) D95G probably damaging Het
Kcmf1 G A 6: 72,819,929 (GRCm39) P357S probably benign Het
Kcmf1 G T 6: 72,825,289 (GRCm39) T268K probably benign Het
Kmt2d A T 15: 98,748,153 (GRCm39) I3057N unknown Het
Lgi2 A G 5: 52,695,832 (GRCm39) F376L probably damaging Het
Lrig3 T G 10: 125,832,993 (GRCm39) L289R probably damaging Het
Mafk A G 5: 139,785,876 (GRCm39) S25G probably benign Het
Mpz T C 1: 170,987,204 (GRCm39) probably null Het
Nalcn A C 14: 123,515,761 (GRCm39) I1680R probably benign Het
Or13d1 C T 4: 52,971,470 (GRCm39) P283L probably damaging Het
Or5ak24 T A 2: 85,260,902 (GRCm39) K90N probably benign Het
Or5g26 C T 2: 85,494,518 (GRCm39) V87M possibly damaging Het
Or5p62 A T 7: 107,771,701 (GRCm39) N83K probably benign Het
Otof A C 5: 30,528,912 (GRCm39) I1827S possibly damaging Het
Oxgr1 A G 14: 120,259,614 (GRCm39) Y198H probably damaging Het
P3h2 T A 16: 25,784,559 (GRCm39) N645I probably damaging Het
Pbld2 A G 10: 62,889,691 (GRCm39) T158A probably benign Het
Pdgfrb C T 18: 61,206,315 (GRCm39) R608C probably damaging Het
Pdia5 T C 16: 35,228,049 (GRCm39) T408A probably benign Het
Pik3cg A G 12: 32,226,845 (GRCm39) V1014A probably benign Het
Rabgap1l A T 1: 160,551,742 (GRCm39) Y245* probably null Het
Rerg T C 6: 137,044,033 (GRCm39) T28A possibly damaging Het
Rhcg A G 7: 79,249,216 (GRCm39) I335T probably damaging Het
Rmnd1 C T 10: 4,353,873 (GRCm39) V78I probably damaging Het
Ryr2 A C 13: 11,664,662 (GRCm39) V3547G probably benign Het
Scnn1a C A 6: 125,314,770 (GRCm39) Q324K probably benign Het
Serpinb6e G A 13: 34,016,698 (GRCm39) T345I probably damaging Het
Smchd1 T C 17: 71,668,955 (GRCm39) T1687A probably benign Het
Smim45 A T 15: 82,136,774 (GRCm39) probably benign Het
Speer4f2 A C 5: 17,581,661 (GRCm39) H201P Het
Spef2 G A 15: 9,725,257 (GRCm39) R167C probably damaging Het
Srp68 A G 11: 116,162,733 (GRCm39) probably null Het
Tbc1d14 A T 5: 36,669,884 (GRCm39) F455I probably benign Het
Tet3 A G 6: 83,432,006 (GRCm39) V10A possibly damaging Het
Tlr3 A T 8: 45,850,810 (GRCm39) S696T probably benign Het
Tmem63b T C 17: 45,978,709 (GRCm39) N300S probably benign Het
Tmprss11g T C 5: 86,637,150 (GRCm39) I328M probably damaging Het
Tpm3 C T 3: 89,980,029 (GRCm39) probably benign Het
Trim28 T A 7: 12,758,833 (GRCm39) L63Q probably damaging Het
Unc5b G A 10: 60,613,265 (GRCm39) R324C probably damaging Het
Vmn1r236 T A 17: 21,507,204 (GRCm39) N107K possibly damaging Het
Vmn2r88 A G 14: 51,656,100 (GRCm39) T770A Het
Zcchc2 C A 1: 105,958,211 (GRCm39) P894Q probably damaging Het
Zfhx2 A G 14: 55,303,229 (GRCm39) V1585A 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
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'- TCAGGTGAAGGAGATCCGTTG -3'
(R):5'- AGACAGGAGCATCTGAACCC -3'

Sequencing Primer
(F):5'- ACCAGACTGTGCACCTGC -3'
(R):5'- GAGCATCTGAACCCTCTCGTAGTG -3'
Posted On 2019-05-15