Incidental Mutation 'R6272:Prpf18'
ID 507376
Institutional Source Beutler Lab
Gene Symbol Prpf18
Ensembl Gene ENSMUSG00000039449
Gene Name pre-mRNA processing factor 18
Synonyms 2810441A10Rik
MMRRC Submission 044442-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6272 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 4626869-4656924 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 4638258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 312 (R312W)
Ref Sequence ENSEMBL: ENSMUSP00000116495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035721] [ENSMUST00000152362]
AlphaFold Q8BM39
Predicted Effect probably damaging
Transcript: ENSMUST00000035721
AA Change: R312W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041428
Gene: ENSMUSG00000039449
AA Change: R312W

DomainStartEndE-ValueType
SFM 79 129 3.33e-24 SMART
Pfam:Prp18 188 332 5e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000152362
AA Change: R312W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116495
Gene: ENSMUSG00000039449
AA Change: R312W

DomainStartEndE-ValueType
SFM 79 129 3.33e-24 SMART
Pfam:Prp18 189 331 3.1e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153881
Meta Mutation Damage Score 0.9383 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.3%
Validation Efficiency 98% (55/56)
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 found to be essential for the catalytic step II in pre-mRNA splicing process. It is found in the spliceosome, and contains seven WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to the yeast splicing factor Prp18. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 A T 5: 50,166,791 (GRCm39) M187K possibly damaging Het
Adgrg3 A G 8: 95,762,889 (GRCm39) I189V noncoding transcript Het
Ampd1 A G 3: 102,992,699 (GRCm39) K147R possibly damaging Het
Apbb2 T C 5: 66,468,415 (GRCm39) T561A probably damaging Het
Arfgef3 A T 10: 18,522,711 (GRCm39) D438E probably benign Het
Atxn1 T A 13: 45,721,238 (GRCm39) Q219L possibly damaging Het
AW551984 A T 9: 39,509,333 (GRCm39) D269E probably benign Het
Cryab A G 9: 50,665,825 (GRCm39) K72R possibly damaging Het
Dbn1 G A 13: 55,622,917 (GRCm39) A522V probably benign Het
Dip2a A T 10: 76,122,241 (GRCm39) *158R probably null Het
Edrf1 C T 7: 133,239,537 (GRCm39) probably benign Het
Ern2 A T 7: 121,775,869 (GRCm39) D408E probably benign Het
F830016B08Rik T C 18: 60,433,150 (GRCm39) S78P probably damaging Het
Fah C A 7: 84,244,753 (GRCm39) G137C probably damaging Het
Foxd3 A G 4: 99,544,977 (GRCm39) D39G probably damaging Het
Gprin3 G A 6: 59,330,316 (GRCm39) Q664* probably null Het
H2-Ob T C 17: 34,461,618 (GRCm39) I119T probably benign Het
H3c6 A T 13: 23,746,400 (GRCm39) V47E probably damaging Het
Hmgcll1 G A 9: 76,037,627 (GRCm39) G174R probably damaging Het
Kbtbd11 T A 8: 15,079,118 (GRCm39) C572* probably null Het
Kynu A T 2: 43,525,001 (GRCm39) N315Y probably benign Het
Map1lc3b G A 8: 122,323,429 (GRCm39) E100K probably benign Het
Matn2 T A 15: 34,355,753 (GRCm39) Q33L possibly damaging Het
Mettl8 T C 2: 70,806,419 (GRCm39) probably null Het
Neto1 A T 18: 86,512,940 (GRCm39) N312Y probably damaging Het
Nhsl1 A G 10: 18,400,253 (GRCm39) D493G probably benign Het
Nup210l A G 3: 90,077,331 (GRCm39) E889G possibly damaging Het
Or13l2 A G 3: 97,318,207 (GRCm39) F97L probably benign Het
Or14c42-ps1 A G 7: 86,211,081 (GRCm39) Y47C unknown Het
Or2y13 C A 11: 49,414,953 (GRCm39) S134R possibly damaging Het
Or5ac25 A C 16: 59,181,948 (GRCm39) M211R possibly damaging Het
Or5w20 G A 2: 87,727,001 (GRCm39) V153I probably benign Het
Or6k2 C T 1: 173,986,741 (GRCm39) T134I probably benign Het
Or8g4 A T 9: 39,661,816 (GRCm39) M45L probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Phc2 A G 4: 128,603,440 (GRCm39) Y190C probably damaging Het
Platr25 T C 13: 62,820,811 (GRCm39) T347A possibly damaging Het
Plec T C 15: 76,059,053 (GRCm39) E3655G probably damaging Het
Plekhg3 A T 12: 76,623,619 (GRCm39) Q954L probably benign Het
Pnpla1 G A 17: 29,100,342 (GRCm39) G403E probably benign Het
Prdm4 G A 10: 85,743,694 (GRCm39) T187I possibly damaging Het
Prg4 T C 1: 150,330,517 (GRCm39) probably benign Het
Rnf213 T A 11: 119,305,374 (GRCm39) V535D probably damaging Het
Rtcb A T 10: 85,791,638 (GRCm39) N39K probably damaging Het
Slc4a3 G A 1: 75,531,341 (GRCm39) probably null Het
Szt2 A C 4: 118,231,487 (GRCm39) probably benign Het
Tasor2 C T 13: 3,631,891 (GRCm39) R870H possibly damaging Het
Tfap2e A T 4: 126,615,657 (GRCm39) V259D probably damaging Het
Trav19 A G 14: 54,083,255 (GRCm39) D110G probably damaging Het
Ttc17 A C 2: 94,189,100 (GRCm39) C749W probably damaging Het
Ttc8 A G 12: 98,948,753 (GRCm39) K490E possibly damaging Het
Ube4b A G 4: 149,471,590 (GRCm39) S99P probably damaging Het
Ubqln3 C T 7: 103,791,385 (GRCm39) R235H probably damaging Het
Vmn2r61 A T 7: 41,949,242 (GRCm39) D554V probably damaging Het
Vmn2r70 A T 7: 85,208,194 (GRCm39) V761E probably damaging Het
Vmn2r97 T C 17: 19,167,861 (GRCm39) I705T possibly damaging Het
Wwox G A 8: 115,215,692 (GRCm39) C155Y probably damaging Het
Zfp451 T C 1: 33,842,325 (GRCm39) probably benign Het
Zfp582 C T 7: 6,356,844 (GRCm39) P219L probably damaging Het
Other mutations in Prpf18
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0437:Prpf18 UTSW 2 4,648,572 (GRCm39) missense possibly damaging 0.94
R3735:Prpf18 UTSW 2 4,648,484 (GRCm39) missense probably benign 0.13
R4918:Prpf18 UTSW 2 4,641,981 (GRCm39) missense probably benign 0.01
R4929:Prpf18 UTSW 2 4,629,348 (GRCm39) splice site probably null
R5122:Prpf18 UTSW 2 4,648,520 (GRCm39) missense probably damaging 0.97
R5284:Prpf18 UTSW 2 4,650,481 (GRCm39) nonsense probably null
R5478:Prpf18 UTSW 2 4,643,705 (GRCm39) missense probably benign 0.01
R7217:Prpf18 UTSW 2 4,650,435 (GRCm39) missense probably benign 0.01
R9046:Prpf18 UTSW 2 4,640,464 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- AGGGTTAGCATAAGCATTCTTTCAC -3'
(R):5'- GGGCTATGCAGTACTGGAAG -3'

Sequencing Primer
(F):5'- TGCTGTACAAACCTGATGACCTGAG -3'
(R):5'- CAGGCGAATGATGCTTAC -3'
Posted On 2018-03-15