Incidental Mutation 'R0069:Prpf6'
ID 33084
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 038360-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0069 (G1)
Quality Score 194
Status Validated
Chromosome 2
Chromosomal Location 181243112-181297454 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 181257756 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002529] [ENSMUST00000002529] [ENSMUST00000002529] [ENSMUST00000132714] [ENSMUST00000132714] [ENSMUST00000132714] [ENSMUST00000132714] [ENSMUST00000136481] [ENSMUST00000136481] [ENSMUST00000136481] [ENSMUST00000136481]
AlphaFold Q91YR7
Predicted Effect probably null
Transcript: ENSMUST00000002529
SMART Domains Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455

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 probably null
Transcript: ENSMUST00000002529
SMART Domains Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455

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 probably null
Transcript: ENSMUST00000002529
SMART Domains Protein: ENSMUSP00000002529
Gene: ENSMUSG00000002455

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 probably null
Transcript: ENSMUST00000132714
SMART Domains Protein: ENSMUSP00000117711
Gene: ENSMUSG00000002455

DomainStartEndE-ValueType
Pfam:PRP1_N 1 54 6e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000132714
SMART Domains Protein: ENSMUSP00000117711
Gene: ENSMUSG00000002455

DomainStartEndE-ValueType
Pfam:PRP1_N 1 54 6e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000132714
SMART Domains Protein: ENSMUSP00000117711
Gene: ENSMUSG00000002455

DomainStartEndE-ValueType
Pfam:PRP1_N 1 54 6e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000132714
SMART Domains Protein: ENSMUSP00000117711
Gene: ENSMUSG00000002455

DomainStartEndE-ValueType
Pfam:PRP1_N 1 54 6e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000136481
SMART Domains Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455

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 probably null
Transcript: ENSMUST00000136481
SMART Domains Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455

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 probably null
Transcript: ENSMUST00000136481
SMART Domains Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455

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 probably null
Transcript: ENSMUST00000136481
SMART Domains Protein: ENSMUSP00000121340
Gene: ENSMUSG00000002455

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.4%
Validation Efficiency 96% (52/54)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,538,525 (GRCm39) C632S probably damaging Het
Antxr2 T A 5: 98,096,109 (GRCm39) M392L possibly damaging Het
Cd101 A G 3: 100,915,533 (GRCm39) V678A probably benign Het
Clec2g T C 6: 128,957,274 (GRCm39) probably null Het
Clec2g T A 6: 128,925,716 (GRCm39) S42T probably benign Het
Creb1 A G 1: 64,615,367 (GRCm39) I240V possibly damaging Het
D2hgdh G T 1: 93,763,009 (GRCm39) V265L possibly damaging Het
Dctn2 A T 10: 127,113,354 (GRCm39) probably null Het
Diablo A T 5: 123,656,087 (GRCm39) S117R probably damaging Het
Ebf2 A T 14: 67,647,499 (GRCm39) R349S probably damaging Het
Fam168a C T 7: 100,484,618 (GRCm39) A252V probably benign Het
Fbn2 T C 18: 58,202,256 (GRCm39) Y1299C probably damaging Het
Gne A C 4: 44,060,099 (GRCm39) V98G probably damaging Het
Hk2 A G 6: 82,713,509 (GRCm39) probably null Het
Ifi206 A T 1: 173,314,413 (GRCm39) V9D probably damaging Het
Ints3 A G 3: 90,307,954 (GRCm39) probably benign Het
Itgal A G 7: 126,909,503 (GRCm39) T56A probably benign Het
Lzts3 T A 2: 130,478,460 (GRCm39) T213S probably benign Het
Map1b A G 13: 99,566,356 (GRCm39) S2122P unknown Het
Mei4 C T 9: 81,907,635 (GRCm39) Q223* probably null Het
Mpzl3 T C 9: 44,979,550 (GRCm39) V167A probably damaging Het
Myo1d A G 11: 80,528,779 (GRCm39) I681T probably damaging Het
Myom2 A G 8: 15,167,624 (GRCm39) T1070A probably benign Het
Nacc1 T A 8: 85,403,828 (GRCm39) I16F probably damaging Het
Nfx1 T C 4: 40,986,688 (GRCm39) probably benign Het
Or10ak12 A T 4: 118,666,887 (GRCm39) V58D probably damaging Het
Or8g33 A G 9: 39,338,188 (GRCm39) Y60H probably damaging Het
Ostm1 A C 10: 42,568,952 (GRCm39) D37A probably benign Het
Pde8a T C 7: 80,968,871 (GRCm39) probably benign Het
Pole2 A T 12: 69,256,661 (GRCm39) V288E probably damaging Het
Poteg T C 8: 27,937,849 (GRCm39) S2P probably benign Het
Ppp2r5c A T 12: 110,534,204 (GRCm39) M356L probably benign Het
Prkdc G A 16: 15,544,368 (GRCm39) S1786N probably benign Het
Prox1 A G 1: 189,893,116 (GRCm39) V443A possibly damaging Het
Ptger1 A T 8: 84,394,948 (GRCm39) T142S possibly damaging Het
Rad54l2 C A 9: 106,587,564 (GRCm39) V734L possibly damaging Het
Rnpepl1 T A 1: 92,846,620 (GRCm39) N507K possibly damaging Het
Slc38a10 A T 11: 119,997,328 (GRCm39) V722E probably damaging Het
Slfn10-ps A G 11: 82,926,368 (GRCm39) noncoding transcript Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Sult1e1 A T 5: 87,727,756 (GRCm39) H175Q probably damaging Het
Ube2e3 C A 2: 78,750,293 (GRCm39) probably benign Het
Vmn1r208 A T 13: 22,956,595 (GRCm39) W301R probably benign Het
Vps13d A G 4: 144,789,133 (GRCm39) I746T probably benign Het
Xpnpep3 T C 15: 81,314,999 (GRCm39) V233A probably benign Het
Zfp329 A T 7: 12,544,859 (GRCm39) S222T probably damaging Het
Zswim6 T C 13: 107,875,098 (GRCm39) noncoding transcript 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
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
R4612:Prpf6 UTSW 2 181,273,872 (GRCm39) missense possibly damaging 0.81
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
Posted On 2013-05-09