Incidental Mutation 'R6025:Prpf31'
ID 479969
Institutional Source Beutler Lab
Gene Symbol Prpf31
Ensembl Gene ENSMUSG00000008373
Gene Name pre-mRNA processing factor 31
Synonyms PRP31, 1500019O16Rik, 2810404O06Rik, RP11
MMRRC Submission 044197-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6025 (G1)
Quality Score 223.009
Status Not validated
Chromosome 7
Chromosomal Location 3632984-3645484 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3642668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 414 (E414K)
Ref Sequence ENSEMBL: ENSMUSP00000008517 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008517] [ENSMUST00000108636] [ENSMUST00000125782] [ENSMUST00000179769]
AlphaFold Q8CCF0
Predicted Effect probably benign
Transcript: ENSMUST00000008517
AA Change: E414K

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000008517
Gene: ENSMUSG00000008373
AA Change: E414K

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: E408K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000104276
Gene: ENSMUSG00000008373
AA Change: E408K

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: E408K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000136031
Gene: ENSMUSG00000008373
AA Change: E408K

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 92.0%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik GC G 11: 59,101,139 (GRCm39) probably null Het
Acvr1b C A 15: 101,092,856 (GRCm39) D166E probably benign Het
Adgra2 T C 8: 27,604,491 (GRCm39) I522T probably damaging Het
Adgre4 C T 17: 56,099,013 (GRCm39) S173L probably benign Het
Akap9 A T 5: 4,082,801 (GRCm39) Q1975L probably damaging Het
Ap3d1 T A 10: 80,546,298 (GRCm39) M965L probably benign Het
Brca2 CATA CA 5: 150,465,040 (GRCm39) probably null Het
Chd6 T C 2: 160,807,502 (GRCm39) N1904S probably benign Het
Clstn3 A T 6: 124,408,623 (GRCm39) S896R possibly damaging Het
Col6a3 T A 1: 90,755,824 (GRCm39) D155V probably damaging Het
Dct T C 14: 118,273,876 (GRCm39) T344A possibly damaging Het
Dctn1 T A 6: 83,170,673 (GRCm39) probably null Het
Dgkz T C 2: 91,776,255 (GRCm39) T3A possibly damaging Het
Duoxa2 T C 2: 122,132,332 (GRCm39) S249P possibly damaging Het
Ehbp1 A T 11: 22,189,156 (GRCm39) V82E probably damaging Het
Fcho1 A T 8: 72,165,217 (GRCm39) probably null Het
Garin5b T A 7: 4,761,143 (GRCm39) D523V probably benign Het
Ifi213 T A 1: 173,422,800 (GRCm39) N22Y probably damaging Het
Kcnq1 T A 7: 142,660,170 (GRCm39) probably benign Het
Kif7 T A 7: 79,354,388 (GRCm39) Q799L probably benign Het
Lmnb1 T A 18: 56,862,456 (GRCm39) L206* probably null Het
Lonp2 G T 8: 87,440,001 (GRCm39) G247V probably damaging Het
Ly75 T C 2: 60,206,306 (GRCm39) Y121C probably damaging Het
Mboat1 C A 13: 30,408,509 (GRCm39) T224K probably benign Het
Mcm9 T C 10: 53,492,073 (GRCm39) E416G possibly damaging Het
Mtnr1b A T 9: 15,774,093 (GRCm39) I322N probably damaging Het
Nanog G A 6: 122,690,350 (GRCm39) G227R possibly damaging Het
Nbn T C 4: 15,981,347 (GRCm39) S480P probably damaging Het
Nek10 C A 14: 14,865,633 (GRCm38) L638M probably benign Het
Nelfcd T C 2: 174,268,611 (GRCm39) V538A probably damaging Het
Or1e33 A T 11: 73,738,745 (GRCm39) S69T probably benign Het
Or2b4 T G 17: 38,116,312 (GRCm39) I92S probably damaging Het
Or52a5b T C 7: 103,417,416 (GRCm39) I63V probably benign Het
Or5b97 T A 19: 12,879,034 (GRCm39) T37S probably benign Het
Phf24 G A 4: 42,938,780 (GRCm39) probably null Het
Pigz T C 16: 31,764,528 (GRCm39) S529P probably damaging Het
Pik3r5 A G 11: 68,383,144 (GRCm39) E321G probably damaging Het
Plcb3 G A 19: 6,933,547 (GRCm39) T926I probably benign Het
Pm20d2 G A 4: 33,181,833 (GRCm39) P257S probably damaging Het
Pon2 A G 6: 5,289,057 (GRCm39) V34A probably benign Het
Prkar2b A G 12: 32,110,855 (GRCm39) F76S possibly damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Setbp1 A T 18: 78,902,455 (GRCm39) L404Q probably damaging Het
Slc26a11 C T 11: 119,265,654 (GRCm39) A389V probably damaging Het
Slc2a1 A T 4: 118,993,539 (GRCm39) T459S possibly damaging Het
Spi1 T C 2: 90,944,685 (GRCm39) L135P probably benign Het
Sspo T C 6: 48,463,720 (GRCm39) L3844P possibly damaging Het
Stxbp5 T A 10: 9,675,772 (GRCm39) T616S probably benign Het
Syde2 A G 3: 145,712,896 (GRCm39) probably null Het
Synm G T 7: 67,384,686 (GRCm39) A550D possibly damaging Het
Tanc2 T C 11: 105,787,373 (GRCm39) V891A possibly damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tlx1 A T 19: 45,144,413 (GRCm39) Q45L probably damaging Het
Tmem104 C A 11: 115,096,349 (GRCm39) Y191* probably null Het
Tmem17 A C 11: 22,468,659 (GRCm39) *199C probably null Het
Tns3 A T 11: 8,442,578 (GRCm39) M595K possibly damaging Het
Tyk2 A G 9: 21,027,256 (GRCm39) V538A probably benign Het
Unc80 A G 1: 66,734,727 (GRCm39) D3250G possibly damaging Het
Usp4 A G 9: 108,237,322 (GRCm39) H130R possibly damaging Het
Zfhx2 T C 14: 55,302,665 (GRCm39) Q1773R probably benign Het
Zfp790 A G 7: 29,528,970 (GRCm39) K552E possibly damaging Het
Zswim5 G A 4: 116,808,106 (GRCm39) R230Q probably damaging Het
Other mutations in Prpf31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02452:Prpf31 APN 7 3,637,185 (GRCm39) missense possibly damaging 0.61
IGL02537:Prpf31 APN 7 3,641,750 (GRCm39) missense probably damaging 1.00
IGL02547:Prpf31 APN 7 3,633,898 (GRCm39) missense probably benign 0.00
IGL02979:Prpf31 APN 7 3,633,598 (GRCm39) unclassified probably benign
R0024:Prpf31 UTSW 7 3,639,658 (GRCm39) splice site probably null
R0024:Prpf31 UTSW 7 3,639,658 (GRCm39) splice site probably null
R0026:Prpf31 UTSW 7 3,642,667 (GRCm39) missense probably benign 0.18
R0026:Prpf31 UTSW 7 3,642,667 (GRCm39) missense probably benign 0.18
R1523:Prpf31 UTSW 7 3,643,856 (GRCm39) missense probably damaging 1.00
R5078:Prpf31 UTSW 7 3,637,702 (GRCm39) missense possibly damaging 0.72
R5243:Prpf31 UTSW 7 3,641,753 (GRCm39) nonsense probably null
R5473:Prpf31 UTSW 7 3,642,824 (GRCm39) missense probably benign 0.20
R6115:Prpf31 UTSW 7 3,642,705 (GRCm39) critical splice donor site probably null
R7330:Prpf31 UTSW 7 3,642,854 (GRCm39) missense probably damaging 0.99
R7469:Prpf31 UTSW 7 3,636,392 (GRCm39) missense possibly damaging 0.89
R7869:Prpf31 UTSW 7 3,633,859 (GRCm39) missense probably benign
R8293:Prpf31 UTSW 7 3,643,917 (GRCm39) missense probably damaging 0.99
R8518:Prpf31 UTSW 7 3,635,742 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- CACTTAATGCTGCCAGTCCC -3'
(R):5'- CACGAATTGTTGACTTCCCACC -3'

Sequencing Primer
(F):5'- CCATGAGACTGGCTGATTGG -3'
(R):5'- GAATTGTTGACTTCCCACCATACAC -3'
Posted On 2017-06-26