Incidental Mutation 'R0026:Prpf31'
ID15096
Institutional Source Beutler Lab
Gene Symbol Prpf31
Ensembl Gene ENSMUSG00000008373
Gene Namepre-mRNA processing factor 31
SynonymsPRP31, 1500019O16Rik, 2810404O06Rik, RP11
MMRRC Submission 038321-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R0026 (G1)
Quality Score
Status Validated
Chromosome7
Chromosomal Location3629985-3642486 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 3639668 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 413 (N413K)
Ref Sequence ENSEMBL: ENSMUSP00000008517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008517] [ENSMUST00000108636] [ENSMUST00000125782] [ENSMUST00000179769]
Predicted Effect probably benign
Transcript: ENSMUST00000008517
AA Change: N413K

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373
AA Change: N413K

DomainStartEndE-ValueType
low complexity region 4 38 N/A INTRINSIC
NOSIC 92 144 2.58e-22 SMART
low complexity region 287 298 N/A INTRINSIC
Pfam:Prp31_C 337 465 1.6e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108636
AA Change: N407K

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373
AA Change: N407K

DomainStartEndE-ValueType
low complexity region 4 38 N/A INTRINSIC
NOSIC 92 144 2.58e-22 SMART
Pfam:Nop 186 328 4.9e-46 PFAM
Pfam:Prp31_C 330 459 4.1e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148641
Predicted Effect probably benign
Transcript: ENSMUST00000179769
AA Change: N407K

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373
AA Change: N407K

DomainStartEndE-ValueType
low complexity region 4 38 N/A INTRINSIC
NOSIC 92 144 2.58e-22 SMART
Pfam:Nop 186 328 4.9e-46 PFAM
Pfam:Prp31_C 330 459 4.1e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206075
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206440
Meta Mutation Damage Score 0.1164 question?
Coding Region Coverage
  • 1x: 78.7%
  • 3x: 68.7%
  • 10x: 42.4%
  • 20x: 22.6%
Validation Efficiency 96% (75/78)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the spliceosome complex and is one of several retinitis pigmentosa-causing genes. When the gene product is added to the spliceosome complex, activation occurs.[provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a knock-in allele die prior to E10. Mice homozygous for a knock-out allele are not produced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931408C20Rik T A 1: 26,683,369 D910V probably benign Het
Abca16 C T 7: 120,477,923 probably benign Het
Acot10 G A 15: 20,666,236 L140F probably benign Het
Asph A C 4: 9,601,361 S129A probably damaging Het
Atrn T C 2: 130,957,920 Y406H probably damaging Het
B4galt3 C T 1: 171,274,261 probably benign Het
BC016579 T C 16: 45,640,367 T113A probably benign Het
Bmpr1b A G 3: 141,870,733 L113P probably benign Het
Casq1 T C 1: 172,219,400 probably benign Het
Ccdc187 T C 2: 26,281,353 D371G probably benign Het
Clstn1 G A 4: 149,634,796 V361M probably damaging Het
Cyp4b1 C T 4: 115,647,521 G56D possibly damaging Het
Dock5 C A 14: 67,846,081 E126D probably benign Het
Exph5 A T 9: 53,376,479 D1620V probably benign Het
Fancd2os G T 6: 113,597,691 T118N probably damaging Het
Fli1 A G 9: 32,476,584 Y37H probably damaging Het
Gm17521 G A X: 123,029,542 S43L probably benign Het
Gnb3 A G 6: 124,837,417 V135A probably benign Het
Ibtk A G 9: 85,690,303 V1278A probably benign Het
Ighv1-58 G A 12: 115,312,287 T77I probably benign Het
Lgsn T A 1: 31,203,443 V202D probably damaging Het
Madd A G 2: 91,175,708 F381L possibly damaging Het
Ntf3 T A 6: 126,101,805 N246I probably damaging Het
Pds5b G A 5: 150,749,830 probably benign Het
Ppp3cb C T 14: 20,531,768 V60I probably benign Het
Prc1 T C 7: 80,311,061 probably benign Het
Rapgef5 T C 12: 117,689,161 S307P probably benign Het
Rbfox2 T C 15: 77,084,157 T435A possibly damaging Het
Senp1 T C 15: 98,076,668 R88G probably damaging Het
Slc35b1 T C 11: 95,390,642 S294P probably benign Het
Slc44a5 G A 3: 154,240,270 probably benign Het
Taf1d T A 9: 15,308,648 S64R probably damaging Het
Trim6 T A 7: 104,225,809 probably null Het
Ttn T C 2: 76,769,190 T19186A probably damaging Het
Uchl4 A T 9: 64,235,371 probably null Het
Usp32 T C 11: 85,032,074 S673G possibly damaging Het
Utrn T C 10: 12,726,196 probably benign Het
Vps13b T C 15: 35,923,301 I3774T possibly damaging Het
Vwa3a A G 7: 120,780,211 Q513R probably damaging Het
Yipf1 T A 4: 107,345,160 L240* probably null Het
Other mutations in Prpf31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02452:Prpf31 APN 7 3634186 missense possibly damaging 0.61
IGL02537:Prpf31 APN 7 3638751 missense probably damaging 1.00
IGL02547:Prpf31 APN 7 3630899 missense probably benign 0.00
IGL02979:Prpf31 APN 7 3630599 unclassified probably benign
R0024:Prpf31 UTSW 7 3636659 splice site probably null
R0024:Prpf31 UTSW 7 3636659 splice site probably null
R0026:Prpf31 UTSW 7 3639668 missense probably benign 0.18
R1523:Prpf31 UTSW 7 3640857 missense probably damaging 1.00
R5078:Prpf31 UTSW 7 3634703 missense possibly damaging 0.72
R5243:Prpf31 UTSW 7 3638754 nonsense probably null
R5473:Prpf31 UTSW 7 3639825 missense probably benign 0.20
R6025:Prpf31 UTSW 7 3639669 missense probably benign 0.06
R6115:Prpf31 UTSW 7 3639706 critical splice donor site probably null
R7330:Prpf31 UTSW 7 3639855 missense probably damaging 0.99
R7469:Prpf31 UTSW 7 3633393 missense possibly damaging 0.89
Posted On2012-12-12