Incidental Mutation 'R4612:Prpf6'
ID 344795
Institutional Source Beutler Lab
Gene Symbol Prpf6
Ensembl Gene ENSMUSG00000002455
Gene Name pre-mRNA splicing factor 6
Synonyms ANT-1, U5-102K, 2610031L17Rik, 1190003A07Rik
MMRRC Submission 041823-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4612 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 181243112-181297454 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 181273872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 339 (C339R)
Ref Sequence ENSEMBL: ENSMUSP00000121340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002529] [ENSMUST00000136481]
AlphaFold Q91YR7
Predicted Effect possibly damaging
Transcript: ENSMUST00000002529
AA Change: C339R

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455
AA Change: C339R

DomainStartEndE-ValueType
Pfam:PRP1_N 13 169 2.5e-52 PFAM
low complexity region 220 236 N/A INTRINSIC
HAT 289 321 1.83e-1 SMART
HAT 323 355 2.83e1 SMART
HAT 384 416 1.08e-3 SMART
HAT 417 446 1.61e1 SMART
HAT 447 476 6.92e-2 SMART
HAT 554 586 2.2e-4 SMART
HAT 588 620 1.69e2 SMART
HAT 622 654 1.38e-1 SMART
HAT 656 687 3.41e1 SMART
HAT 689 721 3.99e1 SMART
HAT 723 755 3.38e-5 SMART
HAT 757 789 2.48e-3 SMART
HAT 791 823 5.64e1 SMART
Blast:TPR 841 874 2e-14 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000136481
AA Change: C339R

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455
AA Change: C339R

DomainStartEndE-ValueType
Pfam:PRP1_N 13 169 1.3e-62 PFAM
low complexity region 220 236 N/A INTRINSIC
HAT 289 321 1.83e-1 SMART
HAT 323 355 2.83e1 SMART
HAT 384 416 1.08e-3 SMART
HAT 417 446 1.61e1 SMART
HAT 447 476 6.92e-2 SMART
HAT 554 586 2.2e-4 SMART
HAT 588 620 1.69e2 SMART
HAT 622 654 1.38e-1 SMART
HAT 656 687 3.41e1 SMART
HAT 689 721 3.99e1 SMART
HAT 723 755 3.38e-5 SMART
HAT 757 789 2.48e-3 SMART
HAT 791 823 5.64e1 SMART
Blast:TPR 841 874 2e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139955
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T C 1: 52,964,635 (GRCm39) D31G probably benign Het
5730455P16Rik A T 11: 80,268,806 (GRCm39) M1K probably null Het
Abca15 A G 7: 119,934,384 (GRCm39) D120G probably benign Het
Adam26a A T 8: 44,021,830 (GRCm39) N553K probably damaging Het
Adam32 A T 8: 25,362,752 (GRCm39) C558S probably damaging Het
Adam34l A T 8: 44,079,587 (GRCm39) F212L probably benign Het
Adam39 A T 8: 41,278,958 (GRCm39) S450C probably damaging Het
Agap2 A T 10: 126,915,965 (GRCm39) T159S unknown Het
Ahnak G A 19: 8,981,088 (GRCm39) V791I probably benign Het
Ak7 T G 12: 105,727,772 (GRCm39) L468R probably damaging Het
Akap12 A G 10: 4,304,456 (GRCm39) D422G probably damaging Het
Antxr1 T A 6: 87,265,155 (GRCm39) I129F probably damaging Het
Arhgap32 G A 9: 32,170,775 (GRCm39) G1185D probably damaging Het
Atf7ip2 A T 16: 10,059,427 (GRCm39) E322D probably benign Het
Atg4b T C 1: 93,714,263 (GRCm39) F349L probably damaging Het
Atp6v1c1 A G 15: 38,677,856 (GRCm39) K127R probably damaging Het
Atxn1l C T 8: 110,458,736 (GRCm39) V509M possibly damaging Het
B3glct T A 5: 149,663,022 (GRCm39) I260N probably damaging Het
Bcl2l12 G A 7: 44,646,009 (GRCm39) P70L probably damaging Het
Bok T A 1: 93,621,900 (GRCm39) F157L probably damaging Het
Bves G A 10: 45,215,373 (GRCm39) G16D probably benign Het
Cacna1b T A 2: 24,516,864 (GRCm39) K65* probably null Het
Casc3 A G 11: 98,713,784 (GRCm39) T339A probably benign Het
Ccdc18 C T 5: 108,283,307 (GRCm39) S6L probably benign Het
Cd86 A G 16: 36,435,692 (GRCm39) Y242H probably benign Het
Chd3 A C 11: 69,244,035 (GRCm39) Y1249* probably null Het
Chrne T C 11: 70,507,848 (GRCm39) T284A probably damaging Het
Col12a1 T C 9: 79,523,339 (GRCm39) D2746G probably damaging Het
Cryaa T A 17: 31,897,448 (GRCm39) M72K probably benign Het
Csmd1 G T 8: 15,971,908 (GRCm39) probably null Het
Det1 A T 7: 78,493,454 (GRCm39) N183K probably damaging Het
Dis3 C A 14: 99,328,871 (GRCm39) V294L probably benign Het
Dnah2 G A 11: 69,374,193 (GRCm39) L1493F possibly damaging Het
Dsc2 A T 18: 20,174,876 (GRCm39) D466E probably damaging Het
Dsg4 T A 18: 20,595,470 (GRCm39) S558T probably benign Het
Dzip3 A T 16: 48,772,403 (GRCm39) L422* probably null Het
Elp6 T C 9: 110,143,087 (GRCm39) F100S probably damaging Het
Epg5 C T 18: 78,025,629 (GRCm39) T1224I possibly damaging Het
Exoc1l A T 5: 76,664,345 (GRCm39) N145Y probably damaging Het
F830016B08Rik T A 18: 60,434,087 (GRCm39) I390N probably benign Het
Fam110c A G 12: 31,124,655 (GRCm39) T206A unknown Het
Fam187b G A 7: 30,676,518 (GRCm39) G9D possibly damaging Het
Fat1 A G 8: 45,478,184 (GRCm39) D2410G probably damaging Het
Fbln1 T A 15: 85,122,760 (GRCm39) F390Y probably benign Het
Fgg A G 3: 82,917,397 (GRCm39) N142S probably damaging Het
Fhip1a G A 3: 85,637,679 (GRCm39) R207* probably null Het
Flcn T C 11: 59,683,513 (GRCm39) T555A probably damaging Het
Foxq1 G T 13: 31,742,808 (GRCm39) probably benign Het
Gm3233 A T 10: 77,595,498 (GRCm39) probably benign Het
Gprc5a G A 6: 135,055,927 (GRCm39) V125I probably damaging Het
Gria2 T C 3: 80,639,358 (GRCm39) D218G probably damaging Het
Gtf3c5 C T 2: 28,469,596 (GRCm39) A103T probably benign Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Hspg2 A G 4: 137,266,886 (GRCm39) T1964A possibly damaging Het
Htatip2 G T 7: 49,422,345 (GRCm39) E188* probably null Het
Ifna13 T G 4: 88,562,113 (GRCm39) E170D probably damaging Het
Il4ra A G 7: 125,175,255 (GRCm39) T488A probably benign Het
Jup G T 11: 100,272,660 (GRCm39) H251N probably damaging Het
Kif21a A T 15: 90,852,426 (GRCm39) probably null Het
Klhl28 T A 12: 65,004,034 (GRCm39) I160L probably damaging Het
Klk1b5 A T 7: 43,494,696 (GRCm39) T60S possibly damaging Het
Kntc1 A G 5: 123,950,706 (GRCm39) R1995G probably damaging Het
Lrig2 A C 3: 104,370,099 (GRCm39) I844M probably damaging Het
Lrp2 C T 2: 69,288,771 (GRCm39) W3698* probably null Het
Lyar T A 5: 38,382,053 (GRCm39) S12T possibly damaging Het
Map3k19 T C 1: 127,743,037 (GRCm39) K1507E probably benign Het
Mre11a G A 9: 14,714,199 (GRCm39) G267R probably damaging Het
Mthfd1l A G 10: 3,980,717 (GRCm39) Q473R probably damaging Het
Ncald T A 15: 37,397,593 (GRCm39) E29V probably benign Het
Neb T C 2: 52,177,255 (GRCm39) D1362G probably damaging Het
Nme2 T C 11: 93,846,428 (GRCm39) T7A possibly damaging Het
Nod2 T A 8: 89,391,664 (GRCm39) L657Q possibly damaging Het
Nrm T A 17: 36,174,421 (GRCm39) V75E probably benign Het
Ogfod1 A C 8: 94,763,975 (GRCm39) K20T possibly damaging Het
Omp T C 7: 97,794,348 (GRCm39) N93S probably damaging Het
Or10h28 T A 17: 33,488,454 (GRCm39) V252E probably benign Het
Or14a256 T A 7: 86,264,944 (GRCm39) Q303L probably benign Het
Or5h27 T C 16: 59,006,674 (GRCm39) I57M probably damaging Het
Pcdhb15 A C 18: 37,608,648 (GRCm39) T627P probably damaging Het
Pld1 A G 3: 28,185,882 (GRCm39) T1036A possibly damaging Het
Pogk C A 1: 166,226,334 (GRCm39) E606* probably null Het
Ppp1r10 T A 17: 36,238,823 (GRCm39) L292Q probably damaging Het
Psd T A 19: 46,301,778 (GRCm39) D937V probably benign Het
Rbak T C 5: 143,160,222 (GRCm39) Q277R probably benign Het
Sbno1 T A 5: 124,542,087 (GRCm39) Y355F probably damaging Het
Sec23ip C T 7: 128,352,226 (GRCm39) Q201* probably null Het
Serpinb3a T C 1: 106,975,337 (GRCm39) K157E probably damaging Het
Slc22a28 A T 19: 8,078,770 (GRCm39) N306K probably damaging Het
Smarca2 C A 19: 26,753,625 (GRCm39) D1584E possibly damaging Het
Snx29 C A 16: 11,265,359 (GRCm39) Q530K probably damaging Het
Stard10 C A 7: 100,994,877 (GRCm39) Q278K possibly damaging Het
Tgm2 C T 2: 157,966,124 (GRCm39) C510Y probably benign Het
Tlr9 C T 9: 106,101,006 (GRCm39) P99L probably damaging Het
Tmco4 T C 4: 138,717,871 (GRCm39) W4R probably benign Het
Tmem151a T A 19: 5,121,862 (GRCm39) probably benign Het
Tmem255b T C 8: 13,504,228 (GRCm39) V140A probably benign Het
Trbj1-2 C T 6: 41,510,950 (GRCm39) probably benign Het
Trpm2 T C 10: 77,781,750 (GRCm39) T290A probably damaging Het
Tsc22d1 G A 14: 76,656,445 (GRCm39) E120K possibly damaging Het
Ttc29 A G 8: 79,052,175 (GRCm39) D352G probably benign Het
Usp25 A T 16: 76,830,833 (GRCm39) I30F possibly damaging Het
Usp34 A C 11: 23,382,268 (GRCm39) N1993T probably damaging Het
Vmn2r124 A C 17: 18,283,284 (GRCm39) H326P probably benign Het
Vmn2r92 C A 17: 18,387,132 (GRCm39) T157K probably benign Het
Vstm5 A T 9: 15,168,789 (GRCm39) I118F probably benign Het
Vwa7 T C 17: 35,242,426 (GRCm39) V510A probably damaging Het
Zfhx4 G A 3: 5,462,123 (GRCm39) S1266N probably damaging Het
Zfp763 T A 17: 33,237,922 (GRCm39) N408Y probably benign Het
Zswim5 C T 4: 116,843,901 (GRCm39) H980Y probably damaging Het
Other mutations in Prpf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01461:Prpf6 APN 2 181,273,304 (GRCm39) missense probably benign
IGL01729:Prpf6 APN 2 181,296,710 (GRCm39) missense probably damaging 1.00
IGL02077:Prpf6 APN 2 181,282,457 (GRCm39) missense probably damaging 1.00
IGL02187:Prpf6 APN 2 181,257,809 (GRCm39) missense probably damaging 1.00
IGL02452:Prpf6 APN 2 181,290,878 (GRCm39) missense probably benign 0.00
IGL02881:Prpf6 APN 2 181,273,864 (GRCm39) missense probably benign 0.21
IGL03220:Prpf6 APN 2 181,274,672 (GRCm39) missense probably damaging 1.00
IGL02837:Prpf6 UTSW 2 181,264,056 (GRCm39) missense probably damaging 1.00
R0069:Prpf6 UTSW 2 181,257,756 (GRCm39) splice site probably null
R0189:Prpf6 UTSW 2 181,297,250 (GRCm39) missense probably benign 0.00
R0479:Prpf6 UTSW 2 181,292,920 (GRCm39) missense probably benign 0.18
R0532:Prpf6 UTSW 2 181,264,004 (GRCm39) missense possibly damaging 0.71
R0628:Prpf6 UTSW 2 181,277,841 (GRCm39) missense probably damaging 0.96
R0674:Prpf6 UTSW 2 181,273,767 (GRCm39) missense probably benign 0.05
R1863:Prpf6 UTSW 2 181,249,967 (GRCm39) missense possibly damaging 0.81
R1954:Prpf6 UTSW 2 181,273,870 (GRCm39) missense probably benign
R1955:Prpf6 UTSW 2 181,273,870 (GRCm39) missense probably benign
R4627:Prpf6 UTSW 2 181,243,267 (GRCm39) missense probably damaging 0.96
R5033:Prpf6 UTSW 2 181,291,899 (GRCm39) missense possibly damaging 0.69
R5053:Prpf6 UTSW 2 181,291,246 (GRCm39) missense probably benign 0.00
R5121:Prpf6 UTSW 2 181,277,836 (GRCm39) missense probably benign
R5181:Prpf6 UTSW 2 181,291,339 (GRCm39) missense probably damaging 0.98
R5380:Prpf6 UTSW 2 181,250,059 (GRCm39) missense probably damaging 1.00
R5490:Prpf6 UTSW 2 181,249,958 (GRCm39) missense probably benign 0.01
R5638:Prpf6 UTSW 2 181,287,381 (GRCm39) missense probably benign 0.32
R5680:Prpf6 UTSW 2 181,290,933 (GRCm39) missense probably damaging 0.99
R6152:Prpf6 UTSW 2 181,263,580 (GRCm39) missense probably damaging 1.00
R6252:Prpf6 UTSW 2 181,289,156 (GRCm39) missense probably damaging 1.00
R6317:Prpf6 UTSW 2 181,273,229 (GRCm39) missense probably benign 0.06
R6501:Prpf6 UTSW 2 181,263,713 (GRCm39) nonsense probably null
R6789:Prpf6 UTSW 2 181,257,844 (GRCm39) nonsense probably null
R7023:Prpf6 UTSW 2 181,262,433 (GRCm39) missense probably damaging 1.00
R7043:Prpf6 UTSW 2 181,291,297 (GRCm39) missense probably benign
R7214:Prpf6 UTSW 2 181,282,389 (GRCm39) missense probably damaging 1.00
R7538:Prpf6 UTSW 2 181,294,248 (GRCm39) missense probably benign 0.16
R7696:Prpf6 UTSW 2 181,250,035 (GRCm39) missense possibly damaging 0.88
R8020:Prpf6 UTSW 2 181,287,363 (GRCm39) missense probably benign 0.05
R8345:Prpf6 UTSW 2 181,291,951 (GRCm39) missense probably benign
R8786:Prpf6 UTSW 2 181,262,415 (GRCm39) missense possibly damaging 0.77
R9151:Prpf6 UTSW 2 181,250,001 (GRCm39) missense possibly damaging 0.70
R9623:Prpf6 UTSW 2 181,289,137 (GRCm39) missense possibly damaging 0.62
RF016:Prpf6 UTSW 2 181,273,869 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCTCTAATAGTGTGGCCTGATG -3'
(R):5'- ACTTTTAGTGATGTTAACCCTGCC -3'

Sequencing Primer
(F):5'- CTCTAATAGTGTGGCCTGATGTTTTG -3'
(R):5'- AAAGATAAGTCAGTCTCTGCTCC -3'
Posted On 2015-09-25