Incidental Mutation 'R4633:Prpf4b'
ID 349374
Institutional Source Beutler Lab
Gene Symbol Prpf4b
Ensembl Gene ENSMUSG00000021413
Gene Name pre-mRNA processing factor 4B
Synonyms Prpk, Prp4k, Prp4
MMRRC Submission 041898-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4633 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 35059285-35090047 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 35084425 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 938 (T938A)
Ref Sequence ENSEMBL: ENSMUSP00000152654 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077853] [ENSMUST00000222509]
AlphaFold Q61136
Predicted Effect probably damaging
Transcript: ENSMUST00000077853
AA Change: T938A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: T938A

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 noncoding transcript
Transcript: ENSMUST00000221087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221784
Predicted Effect probably damaging
Transcript: ENSMUST00000222509
AA Change: T938A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223228
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222834
Meta Mutation Damage Score 0.4708 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 95% (73/77)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,606,503 (GRCm39) L786Q probably null Het
Abcb6 A T 1: 75,154,426 (GRCm39) probably benign Het
Alg10b T C 15: 90,112,497 (GRCm39) V447A probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
B4galt7 A G 13: 55,756,563 (GRCm39) H203R probably damaging Het
Cd44 T G 2: 102,683,392 (GRCm39) D214A possibly damaging Het
Ces1c T C 8: 93,845,014 (GRCm39) D275G probably benign Het
Cnot11 G T 1: 39,575,299 (GRCm39) W127L probably benign Het
Csmd1 A G 8: 16,052,620 (GRCm39) I2168T probably damaging Het
Cyp3a59 T C 5: 146,031,248 (GRCm39) F137S probably damaging Het
Dst T A 1: 34,209,515 (GRCm39) L1234Q probably damaging Het
Erbb2 T A 11: 98,323,814 (GRCm39) I676N possibly damaging Het
Erlin1 G A 19: 44,029,204 (GRCm39) R243C probably damaging Het
Fanci T C 7: 79,076,990 (GRCm39) L576P probably damaging Het
Fzd1 A T 5: 4,805,865 (GRCm39) Y572* probably null Het
Glg1 C T 8: 111,904,276 (GRCm39) probably null Het
Gpr139 A T 7: 118,743,628 (GRCm39) I319N probably damaging Het
Hectd4 C A 5: 121,487,279 (GRCm39) H3425N probably benign Het
Itga10 A G 3: 96,555,020 (GRCm39) D118G possibly damaging Het
Klra13-ps T G 6: 130,268,136 (GRCm39) noncoding transcript Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Krt5 T A 15: 101,620,042 (GRCm39) D225V probably damaging Het
Krtap4-9 G T 11: 99,676,380 (GRCm39) probably benign Het
Lama1 C A 17: 68,105,579 (GRCm39) A2029E probably damaging Het
Lrp2 T A 2: 69,291,761 (GRCm39) T3473S probably benign Het
Lrrc37 A T 11: 103,509,957 (GRCm39) probably benign Het
Lrriq1 G A 10: 103,036,424 (GRCm39) R910* probably null Het
Map1b C T 13: 99,571,450 (GRCm39) V424M probably damaging Het
Mrtfb T C 16: 13,197,737 (GRCm39) I85T possibly damaging Het
Mylk2 T C 2: 152,759,335 (GRCm39) S369P probably benign Het
Myom3 T G 4: 135,503,010 (GRCm39) F362L probably benign Het
Nomo1 A G 7: 45,699,684 (GRCm39) probably benign Het
Or10s1 T A 9: 39,985,630 (GRCm39) V13E probably damaging Het
Or1p1 T G 11: 74,180,120 (GRCm39) M216R probably benign Het
Or2l13b C T 16: 19,349,034 (GRCm39) G212D possibly damaging Het
Or2w4 A G 13: 21,795,398 (GRCm39) V247A probably damaging Het
Parp4 C T 14: 56,885,048 (GRCm39) L1376F unknown Het
Phykpl C A 11: 51,484,435 (GRCm39) A208E probably damaging Het
Pla2g15 T C 8: 106,886,887 (GRCm39) F126S probably damaging Het
Polq T G 16: 36,868,904 (GRCm39) M479R probably damaging Het
Psma1 A G 7: 113,870,369 (GRCm39) M63T probably damaging Het
Rbpms2 T C 9: 65,558,918 (GRCm39) S174P probably benign Het
Rcc1 G T 4: 132,063,080 (GRCm39) S162R probably damaging Het
Rev3l T G 10: 39,722,182 (GRCm39) L2520R probably damaging Het
Rhobtb1 T A 10: 69,085,443 (GRCm39) probably null Het
Rps19 G T 7: 24,588,595 (GRCm39) probably benign Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Selenof C T 3: 144,302,622 (GRCm39) R116* probably null Het
Slc16a11 T C 11: 70,107,205 (GRCm39) probably null Het
Stk3 A G 15: 34,959,074 (GRCm39) V296A probably damaging Het
Taar8b C A 10: 23,968,150 (GRCm39) E15* probably null Het
Tas2r102 T A 6: 132,739,642 (GRCm39) N183K possibly damaging Het
Tet2 T A 3: 133,191,310 (GRCm39) E1041D probably benign Het
Tm9sf1 A G 14: 55,878,660 (GRCm39) V244A probably damaging Het
Trgc4 G T 13: 19,536,457 (GRCm39) V172F probably benign Het
Trim24 T A 6: 37,933,371 (GRCm39) I650K probably damaging Het
Trim59 G T 3: 68,944,747 (GRCm39) Q198K probably benign Het
Ttc28 C T 5: 111,371,867 (GRCm39) T772I probably damaging Het
Tvp23a C T 16: 10,244,909 (GRCm39) V146M probably benign Het
Usp17la A T 7: 104,509,428 (GRCm39) D11V possibly damaging Het
Usp48 A G 4: 137,362,211 (GRCm39) K32R probably damaging Het
Uspl1 A G 5: 149,151,202 (GRCm39) K801E probably damaging Het
Utp20 T C 10: 88,588,814 (GRCm39) I2452V probably benign Het
Vps18 T C 2: 119,123,757 (GRCm39) L228P probably damaging Het
Yju2b T C 8: 84,987,024 (GRCm39) T158A probably benign Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp872 G T 9: 22,108,490 (GRCm39) probably null Het
Zswim8 A G 14: 20,768,891 (GRCm39) E1110G probably damaging 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
R0114:Prpf4b UTSW 13 35,074,471 (GRCm39) splice site probably benign
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
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'- GGCTAAGCACTGCAGACTTG -3'
(R):5'- GTCACTTTAGAAGCAGCCACAG -3'

Sequencing Primer
(F):5'- GCAGACTTGCTAAGAGCTCTTGC -3'
(R):5'- GCTCCACAAACCACACAGAACTC -3'
Posted On 2015-10-08