Incidental Mutation 'IGL02547:Prpf31'
ID297860
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prpf31
Ensembl Gene ENSMUSG00000008373
Gene Namepre-mRNA processing factor 31
SynonymsPRP31, 1500019O16Rik, 2810404O06Rik, RP11
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02547
Quality Score
Status
Chromosome7
Chromosomal Location3629985-3642486 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 3630899 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 78 (S78P)
Ref Sequence ENSEMBL: ENSMUSP00000136031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008517] [ENSMUST00000108636] [ENSMUST00000108641] [ENSMUST00000125782] [ENSMUST00000153143] [ENSMUST00000155592] [ENSMUST00000179769] [ENSMUST00000205596] [ENSMUST00000206370]
Predicted Effect probably benign
Transcript: ENSMUST00000008517
AA Change: S78P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373
AA Change: S78P

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: ENSMUST00000058880
SMART Domains Protein: ENSMUSP00000053108
Gene: ENSMUSG00000006335

DomainStartEndE-ValueType
low complexity region 51 73 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108636
AA Change: S78P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373
AA Change: S78P

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: ENSMUST00000108641
SMART Domains Protein: ENSMUSP00000104281
Gene: ENSMUSG00000006335

DomainStartEndE-ValueType
low complexity region 58 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125782
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143231
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148641
Predicted Effect probably benign
Transcript: ENSMUST00000153143
Predicted Effect probably benign
Transcript: ENSMUST00000155592
SMART Domains Protein: ENSMUSP00000123636
Gene: ENSMUSG00000006335

DomainStartEndE-ValueType
low complexity region 58 80 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156194
Predicted Effect probably benign
Transcript: ENSMUST00000179769
AA Change: S78P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373
AA Change: S78P

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: ENSMUST00000205596
Predicted Effect probably benign
Transcript: ENSMUST00000206370
Coding Region Coverage
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430403G16Rik C T 5: 109,678,762 probably null Het
Akap6 T A 12: 53,140,696 L1631H probably damaging Het
Atf7ip T A 6: 136,603,276 probably benign Het
Atp5o A T 16: 91,928,961 Y48N probably damaging Het
Birc6 T G 17: 74,579,645 M656R probably benign Het
Camkk1 A G 11: 73,038,433 R455G probably benign Het
Casr A T 16: 36,515,674 M91K probably benign Het
Ccdc28a A T 10: 18,214,146 V124D possibly damaging Het
Ccnh T C 13: 85,202,504 probably benign Het
Cdc37 G T 9: 21,139,966 probably benign Het
Cdon A G 9: 35,478,654 D868G probably damaging Het
Cyp4f15 A G 17: 32,700,255 R351G probably benign Het
Dclk3 T C 9: 111,469,023 I545T probably damaging Het
Dock4 A G 12: 40,737,479 M798V probably benign Het
Gas7 A T 11: 67,665,435 Q200L probably damaging Het
Gm15448 T C 7: 3,821,661 D573G probably damaging Het
Gm4758 A T 16: 36,312,526 probably benign Het
Gm6614 A T 6: 141,990,390 L323Q probably damaging Het
Ica1 T C 6: 8,670,691 probably null Het
Idh3a T A 9: 54,592,395 V31D probably benign Het
Il3ra A T 14: 14,351,970 T247S probably benign Het
Itgb7 A G 15: 102,218,510 C497R probably damaging Het
Itm2c T C 1: 85,906,461 Y166H probably damaging Het
Mphosph8 A G 14: 56,672,484 D98G probably damaging Het
Mstn A T 1: 53,064,125 I207F probably benign Het
Muc15 A G 2: 110,731,305 R29G probably damaging Het
Neb T A 2: 52,188,730 T142S probably damaging Het
Nipbl G A 15: 8,351,598 T570I probably benign Het
Nr5a2 T A 1: 136,940,927 M196L probably benign Het
Nrp1 C A 8: 128,493,031 F643L probably benign Het
Olfr1098 A G 2: 86,923,028 F168S probably damaging Het
Olfr1441 A T 19: 12,422,311 M1L probably benign Het
Olfr600 A G 7: 103,346,244 F228S probably damaging Het
Olfr625-ps1 T C 7: 103,682,766 I16T probably benign Het
Osbpl9 C T 4: 109,068,483 W446* probably null Het
Pced1a T C 2: 130,419,707 D342G possibly damaging Het
Prkcd C A 14: 30,599,469 W555L probably damaging Het
Psg27 T C 7: 18,560,628 T285A probably benign Het
Retreg3 A T 11: 101,106,378 L92* probably null Het
Rmdn1 A G 4: 19,605,501 K282E possibly damaging Het
Sept8 G T 11: 53,537,265 R302L probably damaging Het
Serpina3a A G 12: 104,116,543 I192V probably damaging Het
Sgce T C 6: 4,711,301 probably benign Het
Spats1 A T 17: 45,474,817 probably benign Het
Tcerg1l C T 7: 138,248,371 probably null Het
Ttn A G 2: 76,729,386 V21230A probably damaging Het
Ubxn11 A C 4: 134,109,584 D41A possibly damaging Het
Vps13c T G 9: 67,908,019 I979S possibly damaging Het
Zc3h6 T A 2: 129,015,611 H683Q probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp629 T C 7: 127,611,674 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
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
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
Posted On2015-04-16