Incidental Mutation 'IGL02537:Prpf31'
ID297562
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 #IGL02537
Quality Score
Status
Chromosome7
Chromosomal Location3629985-3642486 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 3638751 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Cysteine at position 356 (G356C)
Ref Sequence ENSEMBL: ENSMUSP00000008517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008517] [ENSMUST00000108636] [ENSMUST00000125782] [ENSMUST00000179769]
Predicted Effect probably damaging
Transcript: ENSMUST00000008517
AA Change: G356C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373
AA Change: G356C

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 damaging
Transcript: ENSMUST00000108636
AA Change: G350C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373
AA Change: G350C

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: ENSMUST00000134047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148641
Predicted Effect probably damaging
Transcript: ENSMUST00000179769
AA Change: G350C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373
AA Change: G350C

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Alx3 T A 3: 107,604,859 M271K possibly damaging Het
Ank2 T C 3: 126,955,916 E488G probably damaging Het
Arsk T A 13: 76,074,906 R191* probably null Het
B230217C12Rik T C 11: 97,842,185 S111P possibly damaging Het
Bckdhb A G 9: 83,989,141 I158V probably benign Het
Bub1 G A 2: 127,801,347 Q1026* probably null Het
C8a A G 4: 104,845,951 M303T probably damaging Het
Cftr A G 6: 18,274,597 T905A probably benign Het
Col14a1 A T 15: 55,344,914 K132* probably null Het
Depdc5 T A 5: 32,967,787 L531Q probably damaging Het
Dzip1 G A 14: 118,909,576 probably benign Het
F5 C A 1: 164,193,117 L1054I probably benign Het
Gm4353 A T 7: 116,083,752 I198N probably damaging Het
Il1a T A 2: 129,309,076 E9V probably damaging Het
Kif15 A G 9: 122,993,849 T432A probably benign Het
Kndc1 T C 7: 139,910,410 V276A probably benign Het
Mrvi1 A T 7: 110,871,473 Y678* probably null Het
Narfl C T 17: 25,778,942 probably benign Het
Olfr1247 A C 2: 89,609,395 S236A possibly damaging Het
Olfr170 A T 16: 19,605,799 Y290N probably damaging Het
Olfr430 A T 1: 174,069,454 D52V possibly damaging Het
Palld T C 8: 61,684,934 S596G probably benign Het
Pdc A T 1: 150,333,009 D81V possibly damaging Het
Plcd4 A G 1: 74,556,050 K361R possibly damaging Het
Plekhm1 T A 11: 103,397,192 D43V probably damaging Het
Rbpj T A 5: 53,642,143 I100K probably damaging Het
Rufy3 A G 5: 88,640,662 probably benign Het
Slc40a1 C T 1: 45,911,393 V300I probably benign Het
Slc6a12 A T 6: 121,360,514 I386F probably benign Het
Strip1 C T 3: 107,616,894 R569H possibly damaging Het
Tep1 A T 14: 50,836,113 D1996E probably damaging Het
Tmem68 A G 4: 3,569,649 S14P possibly damaging Het
Trav12-1 C A 14: 53,538,523 C44* probably null Het
Uba1 G A X: 20,678,663 R693H possibly damaging Het
Ugt2b38 T C 5: 87,421,731 T246A possibly damaging Het
Usp24 A G 4: 106,392,367 Y1427C probably damaging Het
Vmn2r78 A T 7: 86,954,288 Y558F probably damaging Het
Wdr54 A G 6: 83,153,391 W221R possibly damaging Het
Xpo4 T C 14: 57,593,833 T773A probably benign Het
Zfp518a T A 19: 40,915,430 S1268T probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Znfx1 T C 2: 167,056,167 D279G probably benign Het
Other mutations in Prpf31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02452:Prpf31 APN 7 3634186 missense possibly damaging 0.61
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
Posted On2015-04-16