Incidental Mutation 'R7217:Prpf18'
ID 561520
Institutional Source Beutler Lab
Gene Symbol Prpf18
Ensembl Gene ENSMUSG00000039449
Gene Name pre-mRNA processing factor 18
Synonyms 2810441A10Rik
MMRRC Submission 045289-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7217 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 4626869-4656924 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4650435 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 65 (V65A)
Ref Sequence ENSEMBL: ENSMUSP00000041428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035721] [ENSMUST00000152362] [ENSMUST00000192470]
AlphaFold Q8BM39
Predicted Effect probably benign
Transcript: ENSMUST00000035721
AA Change: V65A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000041428
Gene: ENSMUSG00000039449
AA Change: V65A

DomainStartEndE-ValueType
SFM 79 129 3.33e-24 SMART
Pfam:Prp18 188 332 5e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152362
AA Change: V65A

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000116495
Gene: ENSMUSG00000039449
AA Change: V65A

DomainStartEndE-ValueType
SFM 79 129 3.33e-24 SMART
Pfam:Prp18 189 331 3.1e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192470
SMART Domains Protein: ENSMUSP00000141457
Gene: ENSMUSG00000039449

DomainStartEndE-ValueType
SFM 3 53 1.7e-26 SMART
Meta Mutation Damage Score 0.0677 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 91% (40/44)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik C A 5: 138,645,188 (GRCm39) H358N probably benign Het
Abcg3 A G 5: 105,087,094 (GRCm39) F543L possibly damaging Het
Asnsd1 T C 1: 53,387,352 (GRCm39) T92A probably damaging Het
Atg2a G T 19: 6,303,471 (GRCm39) probably null Het
Aven T A 2: 112,461,191 (GRCm39) N327K possibly damaging Het
Brd9 T C 13: 74,087,063 (GRCm39) V116A probably damaging Het
Car14 A G 3: 95,806,629 (GRCm39) S250P probably damaging Het
Ccdc138 T C 10: 58,345,422 (GRCm39) I138T probably benign Het
Cmya5 A G 13: 93,226,938 (GRCm39) Y2717H probably damaging Het
Eno1b C A 18: 48,180,746 (GRCm39) T308K probably damaging Het
Epha3 T C 16: 63,372,857 (GRCm39) T949A probably benign Het
Fcrl5 C T 3: 87,351,081 (GRCm39) T197M probably damaging Het
Foxp2 A T 6: 15,416,023 (GRCm39) Q664L unknown Het
Fsip2 A T 2: 82,819,412 (GRCm39) K5048N possibly damaging Het
Gcnt4 T C 13: 97,082,818 (GRCm39) L38P probably damaging Het
Gpr68 A G 12: 100,845,058 (GRCm39) V162A possibly damaging Het
Grin3a A T 4: 49,770,741 (GRCm39) M677K possibly damaging Het
Grm7 A G 6: 111,335,785 (GRCm39) Y732C probably damaging Het
H2-T15 A C 17: 36,367,235 (GRCm39) M329R probably benign Het
Hoxb4 A G 11: 96,209,906 (GRCm39) E104G probably benign Het
Kat7 A G 11: 95,182,390 (GRCm39) S237P possibly damaging Het
Kif13b T C 14: 65,010,517 (GRCm39) V1272A probably damaging Het
Kif20a T A 18: 34,762,613 (GRCm39) H495Q probably benign Het
Lama1 A T 17: 68,071,668 (GRCm39) T852S Het
Mep1b T A 18: 21,226,600 (GRCm39) D487E probably benign Het
Mki67 T C 7: 135,305,911 (GRCm39) T656A probably damaging Het
Mlh3 A G 12: 85,313,481 (GRCm39) W902R probably benign Het
Muc16 A T 9: 18,555,372 (GRCm39) Y3640* probably null Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Pkd1l2 A G 8: 117,722,536 (GRCm39) I2424T probably benign Het
Prl8a2 A G 13: 27,534,998 (GRCm39) E91G possibly damaging Het
Pxmp2 A G 5: 110,433,771 (GRCm39) V34A probably damaging Het
Ranbp2 T G 10: 58,287,839 (GRCm39) Y36D probably damaging Het
Rbm25 G A 12: 83,710,991 (GRCm39) R368Q unknown Het
Rims2 C A 15: 39,339,885 (GRCm39) L860M probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Scn8a A T 15: 100,868,108 (GRCm39) M318L probably benign Het
Slc35b2 A G 17: 45,875,955 (GRCm39) T55A probably benign Het
Trnp1 T C 4: 133,225,416 (GRCm39) E118G possibly damaging Het
Ttll13 A C 7: 79,903,911 (GRCm39) K280Q probably damaging Het
Wdfy3 A T 5: 102,049,785 (GRCm39) H1680Q probably damaging Het
Zfp131 A G 13: 120,237,377 (GRCm39) I327T probably damaging Het
Zfp729b A G 13: 67,743,367 (GRCm39) V66A 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
R6272:Prpf18 UTSW 2 4,638,258 (GRCm39) missense probably damaging 1.00
R9046:Prpf18 UTSW 2 4,640,464 (GRCm39) missense possibly damaging 0.69
Predicted Primers PCR Primer
(F):5'- GCGTTACACGTGCATTTTCC -3'
(R):5'- GCTCTTGGAAGCATGCACAG -3'

Sequencing Primer
(F):5'- TGTGCTGGGAATCCAACTC -3'
(R):5'- CTTGGAAGCATGCACAGTTACTC -3'
Posted On 2019-06-26