Incidental Mutation 'R0114:Prpf4b'
ID 60548
Institutional Source Beutler Lab
Gene Symbol Prpf4b
Ensembl Gene ENSMUSG00000021413
Gene Name pre-mRNA processing factor 4B
Synonyms Prpk, Prp4k, Prp4
MMRRC Submission 038400-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0114 (G1)
Quality Score 159
Status Validated
Chromosome 13
Chromosomal Location 35059285-35090047 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 35074471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077853] [ENSMUST00000222509]
AlphaFold Q61136
Predicted Effect probably benign
Transcript: ENSMUST00000077853
SMART Domains Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413

DomainStartEndE-ValueType
low complexity region 40 62 N/A INTRINSIC
low complexity region 68 80 N/A INTRINSIC
coiled coil region 102 123 N/A INTRINSIC
low complexity region 142 150 N/A INTRINSIC
low complexity region 156 170 N/A INTRINSIC
low complexity region 178 197 N/A INTRINSIC
low complexity region 210 233 N/A INTRINSIC
low complexity region 238 249 N/A INTRINSIC
low complexity region 284 294 N/A INTRINSIC
low complexity region 299 324 N/A INTRINSIC
low complexity region 340 360 N/A INTRINSIC
low complexity region 390 417 N/A INTRINSIC
low complexity region 435 497 N/A INTRINSIC
low complexity region 521 535 N/A INTRINSIC
low complexity region 562 581 N/A INTRINSIC
S_TKc 687 1003 4.99e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220965
Predicted Effect probably benign
Transcript: ENSMUST00000221077
Predicted Effect probably benign
Transcript: ENSMUST00000222509
Coding Region Coverage
  • 1x: 98.6%
  • 3x: 97.4%
  • 10x: 93.2%
  • 20x: 79.2%
Validation Efficiency 100% (99/99)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belongs to a kinase family that includes serine/arginine-rich protein-specific kinases and cyclin-dependent kinases (CDKs). This protein is regarded as a CDK-like kinase (Clk) with homology to mitogen-activated protein kinases (MAPKs). [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T C 10: 28,861,978 (GRCm39) probably benign Het
4933427D14Rik T C 11: 72,086,625 (GRCm39) Y262C probably damaging Het
Adamts1 C A 16: 85,596,502 (GRCm39) V379L probably benign Het
Akt3 T C 1: 176,894,817 (GRCm39) D260G probably damaging Het
Alms1 T C 6: 85,596,785 (GRCm39) L537P probably benign Het
Anln A T 9: 22,264,642 (GRCm39) I876N probably damaging Het
Ano9 A T 7: 140,683,152 (GRCm39) probably benign Het
Arhgef10l T C 4: 140,311,194 (GRCm39) E218G probably benign Het
Arnt2 G A 7: 83,996,738 (GRCm39) R63C probably damaging Het
Atp9a G T 2: 168,552,776 (GRCm39) Y63* probably null Het
Bmpr2 G T 1: 59,854,499 (GRCm39) C116F probably damaging Het
Cand1 T C 10: 119,052,427 (GRCm39) D233G probably benign Het
Cftr A T 6: 18,282,447 (GRCm39) H1049L probably damaging Het
Ckap5 A T 2: 91,450,457 (GRCm39) D1975V possibly damaging Het
Cyp26c1 T C 19: 37,675,081 (GRCm39) V134A probably benign Het
Dnai1 T C 4: 41,605,686 (GRCm39) probably benign Het
Dpp10 T C 1: 123,413,821 (GRCm39) I163V probably benign Het
Fam151a A T 4: 106,591,201 (GRCm39) I15F possibly damaging Het
Fanca A T 8: 124,015,230 (GRCm39) probably null Het
Fes A G 7: 80,027,783 (GRCm39) V787A probably damaging Het
Fnip1 C T 11: 54,378,627 (GRCm39) probably benign Het
Gabpb1 A G 2: 126,495,494 (GRCm39) I86T probably damaging Het
Gmds A T 13: 32,411,264 (GRCm39) S57T probably benign Het
Gnpat T G 8: 125,610,096 (GRCm39) D426E probably benign Het
Gnptab C A 10: 88,269,262 (GRCm39) P655Q possibly damaging Het
Gpi-ps A G 8: 5,690,359 (GRCm39) noncoding transcript Het
Herc1 T A 9: 66,369,128 (GRCm39) F2941I probably damaging Het
Herc2 T C 7: 55,803,522 (GRCm39) probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Itga11 T G 9: 62,642,575 (GRCm39) V166G probably damaging Het
Itga11 T C 9: 62,667,584 (GRCm39) V639A possibly damaging Het
Itpr2 A G 6: 146,214,377 (GRCm39) F1490S probably damaging Het
Lama2 C A 10: 26,869,064 (GRCm39) E802* probably null Het
Lgi3 C T 14: 70,768,469 (GRCm39) probably benign Het
Limch1 C T 5: 67,193,427 (GRCm39) probably benign Het
Lipc T C 9: 70,711,063 (GRCm39) N363S probably damaging Het
Lrit2 A G 14: 36,790,002 (GRCm39) probably null Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mug2 A G 6: 122,017,607 (GRCm39) Y448C probably damaging Het
Mybpc3 A G 2: 90,954,839 (GRCm39) E450G probably damaging Het
Myo5b A T 18: 74,875,242 (GRCm39) T1549S probably benign Het
Naa15 T C 3: 51,355,859 (GRCm39) probably null Het
Nckap1l T A 15: 103,363,455 (GRCm39) C54S probably benign Het
Nlrp9b A G 7: 19,757,981 (GRCm39) D406G probably benign Het
Nprl3 T A 11: 32,189,784 (GRCm39) probably benign Het
Nvl A G 1: 180,947,956 (GRCm39) V429A probably benign Het
Opa1 A T 16: 29,448,453 (GRCm39) N912Y probably benign Het
Or14j3 A T 17: 37,900,306 (GRCm39) *313K probably null Het
Or1x2 G A 11: 50,918,431 (GRCm39) V201I probably benign Het
Or52b4i A T 7: 102,191,938 (GRCm39) Q265L probably benign Het
Or6c211 T A 10: 129,505,467 (GRCm39) Y307F probably benign Het
Pcnx1 T C 12: 82,042,869 (GRCm39) V2317A possibly damaging Het
Phf3 A T 1: 30,844,524 (GRCm39) N1478K possibly damaging Het
Phykpl G A 11: 51,477,480 (GRCm39) D91N probably benign Het
Polr2b T A 5: 77,491,110 (GRCm39) C984S probably damaging Het
Ppfibp1 A G 6: 146,899,731 (GRCm39) R141G probably benign Het
Ppm1d G A 11: 85,217,731 (GRCm39) G20R probably damaging Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Ppp2r5b C A 19: 6,278,461 (GRCm39) V483F probably benign Het
Ppp4r4 T A 12: 103,542,633 (GRCm39) C132S probably benign Het
Prg2 A G 2: 84,813,800 (GRCm39) probably benign Het
Rad54l2 T C 9: 106,590,654 (GRCm39) T491A probably damaging Het
Rnf213 G T 11: 119,305,413 (GRCm39) W548L probably damaging Het
Rusc2 G T 4: 43,422,055 (GRCm39) C825F probably damaging Het
Sema4b A G 7: 79,868,826 (GRCm39) probably benign Het
Sema6a A G 18: 47,423,244 (GRCm39) V254A probably damaging Het
Slc13a3 A G 2: 165,266,501 (GRCm39) F346L probably damaging Het
Slc25a17 T C 15: 81,222,160 (GRCm39) D104G probably damaging Het
Specc1 A T 11: 62,037,139 (GRCm39) N707Y possibly damaging Het
Tex48 T A 4: 63,526,696 (GRCm39) E76V probably damaging Het
Tfr2 T C 5: 137,575,727 (GRCm39) V281A probably benign Het
Tgfb1i1 A C 7: 127,848,666 (GRCm39) Q238H probably damaging Het
Thoc6 G A 17: 23,889,213 (GRCm39) T122I probably benign Het
Tmtc1 G A 6: 148,314,328 (GRCm39) probably benign Het
Tnfrsf8 T C 4: 145,014,617 (GRCm39) D264G possibly damaging Het
Trim43a T A 9: 88,466,213 (GRCm39) I178N probably damaging Het
Ttn G C 2: 76,537,437 (GRCm39) I26503M possibly damaging Het
Usp28 C A 9: 48,950,323 (GRCm39) D589E probably benign Het
Utp23 T C 15: 51,745,907 (GRCm39) S242P probably damaging Het
Vwa3a A G 7: 120,374,603 (GRCm39) Y305C probably benign Het
Vwa5b1 C A 4: 138,336,169 (GRCm39) E142* probably null Het
Xrn2 A T 2: 146,871,699 (GRCm39) T374S probably damaging Het
Zfp735 A T 11: 73,601,488 (GRCm39) Q144L probably benign Het
Other mutations in Prpf4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Prpf4b APN 13 35,067,890 (GRCm39) missense probably benign 0.23
IGL00639:Prpf4b APN 13 35,083,156 (GRCm39) missense possibly damaging 0.70
IGL00901:Prpf4b APN 13 35,078,465 (GRCm39) missense probably damaging 1.00
IGL01301:Prpf4b APN 13 35,068,274 (GRCm39) missense probably benign 0.23
IGL02027:Prpf4b APN 13 35,073,554 (GRCm39) missense probably benign 0.35
IGL02111:Prpf4b APN 13 35,067,944 (GRCm39) missense probably benign 0.23
IGL02256:Prpf4b APN 13 35,083,861 (GRCm39) missense probably damaging 0.98
IGL02590:Prpf4b APN 13 35,072,129 (GRCm39) unclassified probably benign
IGL03389:Prpf4b APN 13 35,084,439 (GRCm39) splice site probably benign
IGL03411:Prpf4b APN 13 35,079,342 (GRCm39) missense probably damaging 1.00
ANU18:Prpf4b UTSW 13 35,068,274 (GRCm39) missense probably benign 0.23
PIT4260001:Prpf4b UTSW 13 35,068,274 (GRCm39) missense probably benign 0.23
PIT4696001:Prpf4b UTSW 13 35,083,825 (GRCm39) missense probably benign 0.01
R0157:Prpf4b UTSW 13 35,068,014 (GRCm39) unclassified probably benign
R1551:Prpf4b UTSW 13 35,078,426 (GRCm39) missense possibly damaging 0.91
R1587:Prpf4b UTSW 13 35,076,133 (GRCm39) missense probably benign 0.09
R2105:Prpf4b UTSW 13 35,068,214 (GRCm39) unclassified probably benign
R2152:Prpf4b UTSW 13 35,084,402 (GRCm39) missense probably benign 0.04
R2432:Prpf4b UTSW 13 35,067,324 (GRCm39) unclassified probably benign
R3802:Prpf4b UTSW 13 35,067,665 (GRCm39) unclassified probably benign
R3803:Prpf4b UTSW 13 35,067,665 (GRCm39) unclassified probably benign
R3804:Prpf4b UTSW 13 35,067,665 (GRCm39) unclassified probably benign
R3982:Prpf4b UTSW 13 35,068,196 (GRCm39) unclassified probably benign
R4603:Prpf4b UTSW 13 35,072,147 (GRCm39) unclassified probably benign
R4633:Prpf4b UTSW 13 35,084,425 (GRCm39) missense probably damaging 1.00
R4649:Prpf4b UTSW 13 35,083,954 (GRCm39) missense probably benign 0.06
R4651:Prpf4b UTSW 13 35,083,954 (GRCm39) missense probably benign 0.06
R4653:Prpf4b UTSW 13 35,083,954 (GRCm39) missense probably benign 0.06
R5022:Prpf4b UTSW 13 35,067,582 (GRCm39) unclassified probably benign
R5028:Prpf4b UTSW 13 35,083,958 (GRCm39) missense probably damaging 1.00
R5232:Prpf4b UTSW 13 35,067,573 (GRCm39) unclassified probably benign
R5313:Prpf4b UTSW 13 35,078,532 (GRCm39) missense probably damaging 1.00
R5440:Prpf4b UTSW 13 35,068,076 (GRCm39) unclassified probably benign
R5511:Prpf4b UTSW 13 35,068,037 (GRCm39) unclassified probably benign
R5863:Prpf4b UTSW 13 35,083,111 (GRCm39) missense possibly damaging 0.51
R5981:Prpf4b UTSW 13 35,070,693 (GRCm39) missense probably benign 0.23
R6360:Prpf4b UTSW 13 35,085,416 (GRCm39) missense probably damaging 0.99
R6398:Prpf4b UTSW 13 35,084,354 (GRCm39) missense probably damaging 1.00
R6556:Prpf4b UTSW 13 35,080,015 (GRCm39) missense probably damaging 0.98
R6880:Prpf4b UTSW 13 35,078,436 (GRCm39) missense possibly damaging 0.69
R7133:Prpf4b UTSW 13 35,085,477 (GRCm39) missense probably benign 0.02
R7148:Prpf4b UTSW 13 35,078,455 (GRCm39) missense probably benign 0.04
R7208:Prpf4b UTSW 13 35,067,994 (GRCm39) missense unknown
R7966:Prpf4b UTSW 13 35,085,428 (GRCm39) missense probably damaging 0.96
R8241:Prpf4b UTSW 13 35,079,974 (GRCm39) missense probably damaging 1.00
R8298:Prpf4b UTSW 13 35,072,166 (GRCm39) missense unknown
R9609:Prpf4b UTSW 13 35,068,032 (GRCm39) missense unknown
R9710:Prpf4b UTSW 13 35,083,870 (GRCm39) missense probably damaging 1.00
RF002:Prpf4b UTSW 13 35,068,219 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GGCTGTCCTGAGACAAAAGTCATGC -3'
(R):5'- AAGGTGTCAACATTCTCCCGCTC -3'

Sequencing Primer
(F):5'- ATGGTCAGGTCAGGTAATTTCACC -3'
(R):5'- CATATTCTTTTACATCAGCAGCAAC -3'
Posted On 2013-07-24