Incidental Mutation 'R2105:Prpf4b'
ID 230901
Institutional Source Beutler Lab
Gene Symbol Prpf4b
Ensembl Gene ENSMUSG00000021413
Gene Name pre-mRNA processing factor 4B
Synonyms Prpk, Prp4k, Prp4
MMRRC Submission 040109-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2105 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 35059285-35090047 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 35068214 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000077853] [ENSMUST00000222509]
AlphaFold Q61136
Predicted Effect unknown
Transcript: ENSMUST00000077853
AA Change: R348S
SMART Domains Protein: ENSMUSP00000077019
Gene: ENSMUSG00000021413
AA Change: R348S

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 noncoding transcript
Transcript: ENSMUST00000221639
Predicted Effect unknown
Transcript: ENSMUST00000222509
AA Change: R348S
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,650,459 (GRCm39) P1189L probably benign Het
Acbd4 G A 11: 102,995,265 (GRCm39) D57N probably damaging Het
Acot4 A T 12: 84,085,516 (GRCm39) M78L probably damaging Het
Ago1 A T 4: 126,355,581 (GRCm39) M76K probably benign Het
Agrn G T 4: 156,261,756 (GRCm39) Y511* probably null Het
Arhgef15 A T 11: 68,838,507 (GRCm39) probably null Het
Atp1a3 A T 7: 24,689,278 (GRCm39) M594K probably damaging Het
Atp4a G A 7: 30,419,793 (GRCm39) probably null Het
Bckdk T A 7: 127,506,489 (GRCm39) I272N probably damaging Het
Bod1l A G 5: 41,989,622 (GRCm39) V367A probably benign Het
C1galt1c1 T C X: 37,720,145 (GRCm39) M284V possibly damaging Het
Cenpk T A 13: 104,366,105 (GRCm39) C4* probably null Het
Cfap53 T C 18: 74,416,294 (GRCm39) V9A possibly damaging Het
Chil3 T C 3: 106,067,794 (GRCm39) I124V possibly damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Cyp2c67 T C 19: 39,614,681 (GRCm39) Y282C probably benign Het
D5Ertd579e C T 5: 36,770,793 (GRCm39) A1201T probably benign Het
Dock4 A G 12: 40,742,988 (GRCm39) H381R probably benign Het
Drc1 C T 5: 30,513,785 (GRCm39) S447F probably benign Het
Fam83g G T 11: 61,594,284 (GRCm39) R606L probably benign Het
Fmnl1 A C 11: 103,085,518 (GRCm39) S688R probably benign Het
Fryl C T 5: 73,279,642 (GRCm39) V219I probably benign Het
Golgb1 T A 16: 36,735,026 (GRCm39) N1424K probably benign Het
Gpr39 T C 1: 125,605,621 (GRCm39) V183A possibly damaging Het
H2-T22 A T 17: 36,351,409 (GRCm39) Y274N probably benign Het
Hif1a T A 12: 73,984,519 (GRCm39) Y313N probably damaging Het
Hip1r T A 5: 124,138,267 (GRCm39) M787K probably damaging Het
Hipk3 T C 2: 104,269,737 (GRCm39) E484G probably damaging Het
Hsh2d T A 8: 72,954,490 (GRCm39) F291I probably benign Het
Ino80 T C 2: 119,262,410 (GRCm39) E692G probably null Het
Itgam T A 7: 127,680,884 (GRCm39) V271D probably damaging Het
Kansl1 A C 11: 104,226,385 (GRCm39) I924S probably damaging Het
Kcnq2 A G 2: 180,723,145 (GRCm39) C628R probably benign Het
Krt78 A C 15: 101,855,849 (GRCm39) V654G possibly damaging Het
Lrit2 A G 14: 36,793,913 (GRCm39) T326A probably damaging Het
Ltk T C 2: 119,582,569 (GRCm39) E710G probably damaging Het
Lysmd1 T C 3: 95,042,285 (GRCm39) L53S probably damaging Het
Mc4r T C 18: 66,992,669 (GRCm39) Y148C probably damaging Het
Mfn2 G A 4: 147,973,162 (GRCm39) Q172* probably null Het
Mknk2 A G 10: 80,504,435 (GRCm39) L242P possibly damaging Het
Mrpl45 A T 11: 97,216,573 (GRCm39) H167L probably benign Het
Myc T C 15: 61,859,951 (GRCm39) V208A probably damaging Het
Myh7b A G 2: 155,471,377 (GRCm39) E1175G probably benign Het
Myo18a A T 11: 77,741,060 (GRCm39) M1456L probably benign Het
Myocd G A 11: 65,109,484 (GRCm39) Q96* probably null Het
Nckap5 T A 1: 125,954,255 (GRCm39) I766F probably damaging Het
Ndst1 T C 18: 60,824,325 (GRCm39) E784G probably benign Het
Nf1 A T 11: 79,360,652 (GRCm39) R1443S possibly damaging Het
Nhlrc3 A G 3: 53,361,072 (GRCm39) W228R probably damaging Het
Nup107 G A 10: 117,609,225 (GRCm39) T378I probably damaging Het
Or14c40 A T 7: 86,313,591 (GRCm39) K240N probably damaging Het
Or1o3 A T 17: 37,573,964 (GRCm39) M197K probably benign Het
Or52d13 T A 7: 103,109,480 (GRCm39) probably null Het
Or5m3b C T 2: 85,871,674 (GRCm39) T5I probably damaging Het
Or5w11 A G 2: 87,459,283 (GRCm39) T159A probably benign Het
Or6b13 T A 7: 139,782,656 (GRCm39) D9V probably benign Het
Otop1 A G 5: 38,457,801 (GRCm39) D520G probably benign Het
Papln C T 12: 83,827,010 (GRCm39) P712S probably benign Het
Pcbd2 T A 13: 55,880,846 (GRCm39) I34N probably damaging Het
Pkd1l3 T A 8: 110,374,205 (GRCm39) C29* probably null Het
Pou5f1 G A 17: 35,820,899 (GRCm39) V114M probably benign Het
Pramel28 A T 4: 143,692,390 (GRCm39) Y204N probably benign Het
Prr23a1 C T 9: 98,724,709 (GRCm39) P24S probably damaging Het
Ptch1 T A 13: 63,693,059 (GRCm39) M65L probably benign Het
Rc3h2 A T 2: 37,289,636 (GRCm39) I392K possibly damaging Het
Reck G T 4: 43,943,195 (GRCm39) D916Y probably damaging Het
Rtf2 A G 2: 172,287,285 (GRCm39) D68G probably damaging Het
Ryr1 G T 7: 28,789,575 (GRCm39) T1513K probably damaging Het
Sacs A G 14: 61,410,890 (GRCm39) D55G possibly damaging Het
Scn9a A G 2: 66,398,527 (GRCm39) S28P probably benign Het
Scrn3 A G 2: 73,160,196 (GRCm39) M280V probably damaging Het
Snx29 C T 16: 11,328,898 (GRCm39) T559I possibly damaging Het
Spn C T 7: 126,735,413 (GRCm39) E109K probably damaging Het
Sra1 C T 18: 36,808,121 (GRCm39) R369H probably benign Het
Srsf11 C T 3: 157,724,982 (GRCm39) A64T probably damaging Het
Stk17b A G 1: 53,815,764 (GRCm39) S12P probably benign Het
Sult1d1 C A 5: 87,707,661 (GRCm39) G153V probably damaging Het
Sycp2 A T 2: 177,991,931 (GRCm39) probably null Het
Tgfb3 T C 12: 86,116,543 (GRCm39) E165G possibly damaging Het
Tns2 C A 15: 102,015,941 (GRCm39) H160N probably benign Het
Ubn1 T A 16: 4,895,088 (GRCm39) C711* probably null Het
Usp13 A T 3: 32,956,135 (GRCm39) D469V probably damaging Het
Vmn1r231 A T 17: 21,110,380 (GRCm39) H178Q possibly damaging Het
Vwa1 A G 4: 155,857,250 (GRCm39) S183P probably damaging Het
Xpo7 A G 14: 70,928,431 (GRCm39) I424T probably benign Het
Zfp109 A G 7: 23,936,041 (GRCm39) probably null 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
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'- CACCAATTGTAAATGAAAGGAGTCG -3'
(R):5'- TGAACAGGTTACCTCGGAGAAG -3'

Sequencing Primer
(F):5'- GTAAATGAAAGGAGTCGAGATAGATC -3'
(R):5'- GAGAAGAAAGTCGTCTCCTCTCTG -3'
Posted On 2014-09-18