Incidental Mutation 'R6629:Prpf4'
ID 524968
Institutional Source Beutler Lab
Gene Symbol Prpf4
Ensembl Gene ENSMUSG00000066148
Gene Name pre-mRNA processing factor 4
Synonyms 1600015H11Rik
MMRRC Submission 044751-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.941) question?
Stock # R6629 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 62327034-62345227 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 62336097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 275 (V275I)
Ref Sequence ENSEMBL: ENSMUSP00000081572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084524]
AlphaFold Q9DAW6
Predicted Effect possibly damaging
Transcript: ENSMUST00000084524
AA Change: V275I

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000081572
Gene: ENSMUSG00000066148
AA Change: V275I

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 noncoding transcript
Transcript: ENSMUST00000148774
Meta Mutation Damage Score 0.3811 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 97% (38/39)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn3 A T 12: 101,903,665 (GRCm39) M180K probably benign Het
Bnip2 G T 9: 69,909,393 (GRCm39) R236L probably null Het
Boc T C 16: 44,312,724 (GRCm39) D582G probably benign Het
Cacul1 T C 19: 60,568,805 (GRCm39) S118G probably benign Het
Ccdc192 T C 18: 57,863,852 (GRCm39) S219P possibly damaging Het
Cpa2 A T 6: 30,554,193 (GRCm39) D271V probably damaging Het
Cubn G A 2: 13,435,683 (GRCm39) T1091M probably damaging Het
Dlgap2 A G 8: 14,881,465 (GRCm39) T846A probably benign Het
Eif5 G T 12: 111,510,042 (GRCm39) A329S probably damaging Het
Fam136b-ps G A 15: 31,276,962 (GRCm39) probably benign Het
Gnrhr A G 5: 86,330,168 (GRCm39) V284A probably benign Het
Grin3a A G 4: 49,844,991 (GRCm39) S31P probably damaging Het
Hectd2 T C 19: 36,592,938 (GRCm39) L701P probably damaging Het
Hook1 C T 4: 95,889,507 (GRCm39) T241I probably benign Het
Kif5a A G 10: 127,084,123 (GRCm39) V52A probably damaging Het
Lasp1 T A 11: 97,697,722 (GRCm39) Y11* probably null Het
Meltf A G 16: 31,703,894 (GRCm39) Y207C probably damaging Het
Mllt3 ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT ACTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT 4: 87,759,504 (GRCm39) probably benign Het
Nek1 A G 8: 61,507,367 (GRCm39) probably null Het
Notch2 C A 3: 98,028,197 (GRCm39) N969K possibly damaging Het
Or4c116 T A 2: 88,942,506 (GRCm39) M117L probably benign Het
Pcnx2 C T 8: 126,617,851 (GRCm39) G135R probably benign Het
Pla2g4f A T 2: 120,138,723 (GRCm39) L242Q probably damaging Het
Plcxd2 T G 16: 45,785,470 (GRCm39) T312P probably damaging Het
Prpf8 G A 11: 75,386,252 (GRCm39) probably null Het
Pxn T C 5: 115,692,121 (GRCm39) L401P probably damaging Het
Rab44 A T 17: 29,354,754 (GRCm39) probably benign Het
Rfx6 C A 10: 51,601,586 (GRCm39) T669K probably benign Het
Rgs16 A G 1: 153,619,420 (GRCm39) N142S probably damaging Het
Rhobtb1 A G 10: 69,106,146 (GRCm39) E237G possibly damaging Het
Rsbn1 A C 3: 103,835,757 (GRCm39) D265A probably damaging Het
Rufy4 A G 1: 74,171,526 (GRCm39) probably null Het
Slc4a1 C A 11: 102,252,048 (GRCm39) E19* probably null Het
Tctn1 A G 5: 122,380,731 (GRCm39) S526P probably damaging Het
Tspear A T 10: 77,706,343 (GRCm39) H371L probably benign Het
Vmn1r34 A T 6: 66,614,499 (GRCm39) F80I probably benign Het
Wdr75 G A 1: 45,851,216 (GRCm39) S264N probably damaging Het
Zfp652 A T 11: 95,654,616 (GRCm39) N340Y probably damaging Het
Zp3 A G 5: 136,016,190 (GRCm39) T306A probably benign 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
R2183:Prpf4 UTSW 4 62,330,046 (GRCm39) missense probably damaging 0.98
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
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'- GTTTCAAACAGTTTGGGGAGAA -3'
(R):5'- ATGTCACATGTTTAGGCCTGAAG -3'

Sequencing Primer
(F):5'- GGCATGGTGGCACATACTTTAACC -3'
(R):5'- CAAGGCTCCAAAGCTTCA -3'
Posted On 2018-06-22