Incidental Mutation 'R1545:Prpf3'
ID 172093
Institutional Source Beutler Lab
Gene Symbol Prpf3
Ensembl Gene ENSMUSG00000015748
Gene Name pre-mRNA processing factor 3
Synonyms 3632413F13Rik
MMRRC Submission 039584-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1545 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 95737436-95763197 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95755115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 157 (K157E)
Ref Sequence ENSEMBL: ENSMUSP00000124950 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015892] [ENSMUST00000160109] [ENSMUST00000161476]
AlphaFold Q922U1
Predicted Effect probably damaging
Transcript: ENSMUST00000015892
AA Change: K157E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000015892
Gene: ENSMUSG00000015748
AA Change: K157E

DomainStartEndE-ValueType
PWI 3 76 5.99e-29 SMART
low complexity region 112 135 N/A INTRINSIC
Pfam:PRP3 308 521 1.3e-82 PFAM
low complexity region 526 534 N/A INTRINSIC
Pfam:DUF1115 544 673 1.1e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160109
SMART Domains Protein: ENSMUSP00000124302
Gene: ENSMUSG00000015748

DomainStartEndE-ValueType
PWI 3 76 5.99e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160155
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161073
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161420
Predicted Effect probably damaging
Transcript: ENSMUST00000161476
AA Change: K157E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124950
Gene: ENSMUSG00000015748
AA Change: K157E

DomainStartEndE-ValueType
PWI 3 76 5.99e-29 SMART
low complexity region 112 135 N/A INTRINSIC
Pfam:PRP3 307 522 5.4e-74 PFAM
low complexity region 526 534 N/A INTRINSIC
Pfam:DUF1115 543 674 3.2e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161482
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The removal of introns from nuclear pre-mRNAs occurs on complexes called spliceosomes, which are made up of 4 small nuclear ribonucleoprotein (snRNP) particles and an undefined number of transiently associated splicing factors. This gene product is one of several proteins that associate with U4 and U6 snRNPs. Mutations in this gene are associated with retinitis pigmentosa-18. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas C T 15: 102,247,641 (GRCm39) R410H probably damaging Het
Abca2 T C 2: 25,332,370 (GRCm39) C1468R probably benign Het
Actl9 T A 17: 33,652,231 (GRCm39) I97N probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Asb3 T A 11: 31,006,217 (GRCm39) M234K probably benign Het
Bax A C 7: 45,111,357 (GRCm39) H168Q probably null Het
Brinp1 A G 4: 68,681,192 (GRCm39) L446P possibly damaging Het
Cdc14a A G 3: 116,087,373 (GRCm39) probably null Het
Cfap299 C A 5: 98,477,291 (GRCm39) Q27K probably benign Het
Cpq A T 15: 33,250,146 (GRCm39) I168F probably damaging Het
Crkl A T 16: 17,301,556 (GRCm39) N270I probably damaging Het
Cul7 G A 17: 46,962,479 (GRCm39) E37K probably damaging Het
Eps15 C T 4: 109,169,526 (GRCm39) T112I probably benign Het
F5 C T 1: 164,036,529 (GRCm39) R1897* probably null Het
Fbxl5 A T 5: 43,928,140 (GRCm39) L40Q probably damaging Het
Fhip1a C T 3: 85,573,261 (GRCm39) S896N probably damaging Het
Gprc5a C A 6: 135,060,459 (GRCm39) T316K probably damaging Het
Hectd4 T A 5: 121,462,019 (GRCm39) L2299Q possibly damaging Het
Khdc3 C G 9: 73,010,942 (GRCm39) P240R probably benign Het
Kif20b A G 19: 34,906,318 (GRCm39) T69A probably damaging Het
Kptn C G 7: 15,857,888 (GRCm39) Q239E probably benign Het
Lep T C 6: 29,070,831 (GRCm39) S52P probably damaging Het
Lrig3 G A 10: 125,844,416 (GRCm39) V627M possibly damaging Het
Lrrc37 T C 11: 103,499,745 (GRCm39) K615E probably benign Het
Mdga1 G A 17: 30,061,876 (GRCm39) R792C probably damaging Het
Mink1 T C 11: 70,489,717 (GRCm39) V58A possibly damaging Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nrg3 T A 14: 38,129,111 (GRCm39) I375F probably benign Het
Nup50 A G 15: 84,823,993 (GRCm39) T449A possibly damaging Het
Nup98 A G 7: 101,784,087 (GRCm39) S1082P possibly damaging Het
Or8b1b C A 9: 38,375,815 (GRCm39) H159Q probably benign Het
Otub1 T C 19: 7,176,571 (GRCm39) I188V probably benign Het
Pcdhac2 T C 18: 37,279,186 (GRCm39) I722T possibly damaging Het
Pcsk7 T A 9: 45,825,646 (GRCm39) D292E probably damaging Het
Peli2 T A 14: 48,490,174 (GRCm39) D215E probably benign Het
Ppp1r9a T C 6: 5,156,242 (GRCm39) probably null Het
Ppp2r1b A G 9: 50,773,725 (GRCm39) K136R possibly damaging Het
Prss50 T C 9: 110,690,336 (GRCm39) S160P probably damaging Het
Ptprb T C 10: 116,216,774 (GRCm39) V2251A probably damaging Het
Rgs6 G A 12: 83,162,951 (GRCm39) E386K probably damaging Het
Rida A G 15: 34,495,250 (GRCm39) I5T probably benign Het
Rpe A G 1: 66,740,169 (GRCm39) H35R probably damaging Het
Sema4b T A 7: 79,868,771 (GRCm39) D321E probably benign Het
Slc22a13 G A 9: 119,038,113 (GRCm39) A5V probably benign Het
Snta1 C T 2: 154,218,926 (GRCm39) probably null Het
Spdye4c T A 2: 128,437,632 (GRCm39) N220K probably benign Het
Sult1c2 G T 17: 54,269,176 (GRCm39) A280E possibly damaging Het
Tfr2 A G 5: 137,581,561 (GRCm39) E579G probably benign Het
Tmem221 A G 8: 72,011,182 (GRCm39) L91P probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Vmn1r17 A G 6: 57,338,317 (GRCm39) V16A probably benign Het
Vmn1r188 A G 13: 22,272,603 (GRCm39) R186G probably damaging Het
Wfikkn1 A G 17: 26,097,565 (GRCm39) V253A probably damaging Het
Other mutations in Prpf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02175:Prpf3 APN 3 95,741,419 (GRCm39) missense probably damaging 0.99
IGL02825:Prpf3 APN 3 95,760,792 (GRCm39) missense probably damaging 1.00
R0940:Prpf3 UTSW 3 95,751,535 (GRCm39) missense probably damaging 1.00
R1542:Prpf3 UTSW 3 95,743,782 (GRCm39) missense probably benign 0.08
R2063:Prpf3 UTSW 3 95,751,551 (GRCm39) missense probably benign
R2084:Prpf3 UTSW 3 95,756,301 (GRCm39) missense probably benign 0.44
R2160:Prpf3 UTSW 3 95,752,542 (GRCm39) missense probably benign 0.19
R3110:Prpf3 UTSW 3 95,757,112 (GRCm39) intron probably benign
R3112:Prpf3 UTSW 3 95,757,112 (GRCm39) intron probably benign
R4636:Prpf3 UTSW 3 95,741,482 (GRCm39) missense probably damaging 0.99
R4671:Prpf3 UTSW 3 95,758,976 (GRCm39) missense possibly damaging 0.76
R4689:Prpf3 UTSW 3 95,743,801 (GRCm39) nonsense probably null
R4702:Prpf3 UTSW 3 95,741,404 (GRCm39) missense probably damaging 0.97
R5080:Prpf3 UTSW 3 95,741,109 (GRCm39) missense probably benign 0.45
R5177:Prpf3 UTSW 3 95,757,036 (GRCm39) intron probably benign
R5290:Prpf3 UTSW 3 95,760,857 (GRCm39) missense probably benign 0.39
R5397:Prpf3 UTSW 3 95,760,891 (GRCm39) missense probably benign 0.09
R6329:Prpf3 UTSW 3 95,739,890 (GRCm39) missense probably damaging 1.00
R7133:Prpf3 UTSW 3 95,741,052 (GRCm39) splice site probably null
R8433:Prpf3 UTSW 3 95,758,963 (GRCm39) missense probably damaging 1.00
R8725:Prpf3 UTSW 3 95,748,021 (GRCm39) missense possibly damaging 0.48
R9566:Prpf3 UTSW 3 95,760,800 (GRCm39) missense probably damaging 1.00
R9611:Prpf3 UTSW 3 95,758,931 (GRCm39) nonsense probably null
R9613:Prpf3 UTSW 3 95,758,931 (GRCm39) nonsense probably null
R9733:Prpf3 UTSW 3 95,741,512 (GRCm39) missense possibly damaging 0.77
X0063:Prpf3 UTSW 3 95,748,027 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACACAGCATGGCAGATTATGGTGG -3'
(R):5'- ACAGGCAGAAAGTGTGGTACAGTTC -3'

Sequencing Primer
(F):5'- TGGACAACTGGAGCCCTTTC -3'
(R):5'- AGTGTGGTACAGTTCTAACCTC -3'
Posted On 2014-04-13