Incidental Mutation 'R2183:Prpf4'
ID 237280
Institutional Source Beutler Lab
Gene Symbol Prpf4
Ensembl Gene ENSMUSG00000066148
Gene Name pre-mRNA processing factor 4
Synonyms 1600015H11Rik
MMRRC Submission 040185-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R2183 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 62327034-62345227 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 62330046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 107 (V107I)
Ref Sequence ENSEMBL: ENSMUSP00000081572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084524] [ENSMUST00000084525] [ENSMUST00000107459] [ENSMUST00000134727]
AlphaFold Q9DAW6
Predicted Effect probably damaging
Transcript: ENSMUST00000084524
AA Change: V107I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081572
Gene: ENSMUSG00000066148
AA Change: V107I

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
SFM 102 154 8.92e-25 SMART
WD40 219 258 1.14e-3 SMART
WD40 261 308 1.75e-4 SMART
WD40 311 350 5.18e-7 SMART
WD40 353 392 8.04e-4 SMART
WD40 395 434 2.57e-11 SMART
WD40 437 477 2.93e-6 SMART
WD40 480 519 1.74e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000084525
SMART Domains Protein: ENSMUSP00000081573
Gene: ENSMUSG00000066149

DomainStartEndE-ValueType
Pfam:APC_CDC26 1 66 1.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107459
SMART Domains Protein: ENSMUSP00000103083
Gene: ENSMUSG00000066149

DomainStartEndE-ValueType
Pfam:ANAPC_CDC26 1 80 7.8e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134727
SMART Domains Protein: ENSMUSP00000120496
Gene: ENSMUSG00000066149

DomainStartEndE-ValueType
Pfam:APC_CDC26 1 66 1.1e-17 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a heteromeric complex that binds U4, U5, and U6 small nuclear RNAs and is involved in pre-mRNA splicing. The encoded protein also is a mitotic checkpoint protein and a regulator of chemoresistance in human ovarian cancer. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf7 T C 15: 102,454,908 (GRCm39) T287A possibly damaging Het
Atg9b C T 5: 24,595,491 (GRCm39) A263T probably benign Het
Cc2d1a A T 8: 84,867,028 (GRCm39) H371Q probably damaging Het
Ccdc39 T C 3: 33,875,581 (GRCm39) N537S possibly damaging Het
Cdc6 A T 11: 98,799,524 (GRCm39) K17* probably null Het
Cemip2 G A 19: 21,801,157 (GRCm39) R758Q possibly damaging Het
Cenpk T C 13: 104,370,671 (GRCm39) M64T probably damaging Het
Dhx57 T A 17: 80,582,760 (GRCm39) T282S probably benign Het
Frem1 G A 4: 82,909,732 (GRCm39) T757I probably benign Het
Gcsh A T 8: 117,715,885 (GRCm39) V66E probably damaging Het
Gdpd1 T C 11: 86,926,102 (GRCm39) N281S probably damaging Het
Hs1bp3 T C 12: 8,371,610 (GRCm39) V97A possibly damaging Het
Ipo11 T C 13: 107,061,595 (GRCm39) T22A probably benign Het
Irag1 A T 7: 110,498,189 (GRCm39) L402Q probably damaging Het
Lama1 A G 17: 68,098,004 (GRCm39) N1795D probably damaging Het
Larp4 T C 15: 99,909,778 (GRCm39) V627A probably benign Het
Lrp8 T C 4: 107,660,462 (GRCm39) C41R probably damaging Het
Mroh2b T A 15: 4,947,707 (GRCm39) probably null Het
Nebl T C 2: 17,409,027 (GRCm39) D357G probably damaging Het
Nrg2 T C 18: 36,329,804 (GRCm39) K137R probably benign Het
Or14c43 T A 7: 86,115,594 (GRCm39) V325E probably benign Het
Or1j14 C T 2: 36,417,723 (GRCm39) Q100* probably null Het
Or5t7 A T 2: 86,507,380 (GRCm39) M99K probably benign Het
Phc1 C A 6: 122,300,284 (GRCm39) V487L probably damaging Het
Piezo2 A G 18: 63,239,345 (GRCm39) V745A probably damaging Het
Proca1 A T 11: 78,094,975 (GRCm39) H83L possibly damaging Het
Ptprz1 G A 6: 23,002,284 (GRCm39) R1458Q probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rbsn C A 6: 92,166,618 (GRCm39) L675F probably benign Het
Recql5 T C 11: 115,787,613 (GRCm39) S514G probably benign Het
Scai G A 2: 38,970,138 (GRCm39) T542I probably benign Het
Sftpa1 G T 14: 40,854,823 (GRCm39) D73Y probably damaging Het
Sgms2 A C 3: 131,129,934 (GRCm39) probably null Het
Spart A G 3: 55,024,554 (GRCm39) I50V probably benign Het
Spata7 A T 12: 98,603,871 (GRCm39) K47N probably damaging Het
Tbx18 T A 9: 87,587,789 (GRCm39) T443S probably damaging Het
Tmem130 T C 5: 144,692,242 (GRCm39) D54G possibly damaging Het
Tnip2 TCTCCT TCT 5: 34,656,957 (GRCm39) probably benign Het
Trp53rkb G T 2: 166,635,877 (GRCm39) V73L possibly damaging Het
Wwc2 A T 8: 48,295,961 (GRCm39) L1103H unknown Het
Yes1 T A 5: 32,802,370 (GRCm39) V95E probably damaging Het
Zfp971 T A 2: 177,675,533 (GRCm39) H377Q probably damaging Het
Zzef1 C T 11: 72,777,544 (GRCm39) R1792* probably null Het
Other mutations in Prpf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02305:Prpf4 APN 4 62,333,633 (GRCm39) splice site probably benign
IGL03158:Prpf4 APN 4 62,334,256 (GRCm39) missense probably benign
R0389:Prpf4 UTSW 4 62,340,842 (GRCm39) missense probably damaging 1.00
R0718:Prpf4 UTSW 4 62,332,777 (GRCm39) splice site probably benign
R5566:Prpf4 UTSW 4 62,334,206 (GRCm39) missense probably benign 0.36
R6456:Prpf4 UTSW 4 62,332,869 (GRCm39) critical splice donor site probably null
R6629:Prpf4 UTSW 4 62,336,097 (GRCm39) missense possibly damaging 0.91
R7491:Prpf4 UTSW 4 62,336,113 (GRCm39) missense probably damaging 1.00
R8199:Prpf4 UTSW 4 62,340,866 (GRCm39) missense probably damaging 1.00
R8278:Prpf4 UTSW 4 62,333,493 (GRCm39) critical splice donor site probably null
R8855:Prpf4 UTSW 4 62,334,235 (GRCm39) missense probably benign 0.01
R9374:Prpf4 UTSW 4 62,336,131 (GRCm39) missense probably benign 0.00
R9659:Prpf4 UTSW 4 62,334,296 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- ATCCAGTTTAAGACACTGTACCGC -3'
(R):5'- TTCCCAGCAGAGTAGGCAAG -3'

Sequencing Primer
(F):5'- GCAGGACAGACTCTTGACTG -3'
(R):5'- TGATGGGAGTCAGCACCAACTTC -3'
Posted On 2014-10-02