Incidental Mutation 'IGL02452:Prpf31'
ID293687
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 #IGL02452
Quality Score
Status
Chromosome7
Chromosomal Location3629985-3642486 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 3634186 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 161 (N161K)
Ref Sequence ENSEMBL: ENSMUSP00000136031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008517] [ENSMUST00000108636] [ENSMUST00000108641] [ENSMUST00000125782] [ENSMUST00000153143] [ENSMUST00000155592] [ENSMUST00000179769] [ENSMUST00000205596] [ENSMUST00000206370]
Predicted Effect possibly damaging
Transcript: ENSMUST00000008517
AA Change: N161K

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373
AA Change: N161K

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 possibly damaging
Transcript: ENSMUST00000108636
AA Change: N161K

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373
AA Change: N161K

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: ENSMUST00000134047
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 possibly damaging
Transcript: ENSMUST00000179769
AA Change: N161K

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373
AA Change: N161K

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm C A 3: 153,941,970 V11F probably damaging Het
Alk A T 17: 71,902,625 Y941* probably null Het
Armc4 C T 18: 7,129,461 E906K probably damaging Het
Blm A T 7: 80,503,377 probably null Het
Blvrb T C 7: 27,459,340 V55A possibly damaging Het
Cdh23 T A 10: 60,317,942 T2288S probably damaging Het
Csnk1g1 T A 9: 66,007,785 M242K probably damaging Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Cyp2d26 T A 15: 82,792,626 H173L probably benign Het
Cyp2g1 T A 7: 26,811,446 S131T probably benign Het
Dupd1 G A 14: 21,702,922 T52I probably damaging Het
Dzip3 T A 16: 48,938,537 probably benign Het
Espl1 T C 15: 102,299,839 S427P probably damaging Het
Fasn A T 11: 120,808,180 D2424E probably benign Het
Flrt2 G A 12: 95,779,483 M198I probably benign Het
Gen1 A T 12: 11,242,575 S404R probably benign Het
Gm11596 A T 11: 99,792,980 C105S unknown Het
Gm8765 A T 13: 50,703,077 H917L probably damaging Het
Hdlbp A T 1: 93,417,511 V714D probably damaging Het
Igkv4-80 A G 6: 69,016,832 V25A probably benign Het
Igkv8-27 C T 6: 70,171,941 W76* probably null Het
Ikzf1 T C 11: 11,748,545 L132P probably damaging Het
Kcna6 C A 6: 126,738,480 C482F possibly damaging Het
Lhx9 A T 1: 138,841,842 L47Q probably damaging Het
Lrp4 T A 2: 91,474,002 D175E probably damaging Het
Lrrtm3 T C 10: 64,088,036 K451E probably damaging Het
Mcm9 C T 10: 53,541,557 V17M probably damaging Het
Mios T A 6: 8,222,492 S475R probably benign Het
Mmp24 C T 2: 155,815,788 R533C probably damaging Het
Moxd1 C T 10: 24,282,752 P435S probably damaging Het
Mta2 T A 19: 8,950,306 I497N probably benign Het
Mtus2 T C 5: 148,077,663 V422A probably benign Het
Ndufaf1 A T 2: 119,656,426 F260Y probably damaging Het
Nfasc C T 1: 132,620,924 probably null Het
Nid1 A T 13: 13,508,720 T1128S probably benign Het
Olfr583 A G 7: 103,051,931 D211G probably benign Het
Pcdh12 G A 18: 38,281,693 P793L probably benign Het
Pclo A T 5: 14,676,966 probably benign Het
Prpf6 T G 2: 181,649,085 N656K probably benign Het
Ptprn T A 1: 75,258,169 H258L probably benign Het
Rab19 A G 6: 39,389,798 T216A probably benign Het
Ryr3 A C 2: 112,833,990 L1652W probably damaging Het
Six2 A C 17: 85,685,378 S232R possibly damaging Het
Spag17 T C 3: 100,027,391 V663A probably benign Het
Spag5 A G 11: 78,304,623 N252S probably benign Het
Sptb C T 12: 76,609,036 probably null Het
Synj1 A G 16: 90,961,365 probably benign Het
Tekt2 T C 4: 126,324,852 H36R possibly damaging Het
Tjp1 A T 7: 65,312,655 M1258K probably damaging Het
Txnrd3 T C 6: 89,674,795 *502Q probably null Het
Other mutations in Prpf31
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
R7869:Prpf31 UTSW 7 3630860 missense probably benign
R8293:Prpf31 UTSW 7 3640918 missense probably damaging 0.99
R8518:Prpf31 UTSW 7 3632743 missense probably damaging 0.97
Posted On2015-04-16