Incidental Mutation 'R6585:Rprd1a'
ID 526376
Institutional Source Beutler Lab
Gene Symbol Rprd1a
Ensembl Gene ENSMUSG00000040446
Gene Name regulation of nuclear pre-mRNA domain containing 1A
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # R6585 (G1)
Quality Score 98.0078
Status Not validated
Chromosome 18
Chromosomal Location 24484962-24530204 bp(-) (GRCm38)
Type of Mutation splice site (171 bp from exon)
DNA Base Change (assembly) T to C at 24506663 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000043618 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046206]
AlphaFold Q8VDS4
Predicted Effect probably null
Transcript: ENSMUST00000046206
SMART Domains Protein: ENSMUSP00000043618
Gene: ENSMUSG00000040446

DomainStartEndE-ValueType
RPR 8 130 1.89e-46 SMART
Pfam:CREPT 164 310 1.1e-59 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 97% (30/31)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell-cycle and transcription regulatory protein. The encoded protein interacts with the cell cycle inhibitor cyclin-dependent kinase 4 inhibitor B and may function as a negative regulator of G(1)/S phase progression. This protein also forms homo- and hetrodimers with the protein, regulation of nuclear pre-mRNA domain-containing protein 1B, to form a scaffold that interacts with the C-terminal domain of RNA polymerase II subunit B1 and regulates several aspects of transcription. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 16. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik C T 5: 109,737,668 C108Y probably damaging Het
AA792892 C T 5: 94,381,556 P62S probably benign Het
Adam1b G T 5: 121,501,187 D598E probably benign Het
Agr2 G A 12: 35,995,626 R37Q probably benign Het
Ascc3 A G 10: 50,842,177 K1989E probably benign Het
Chd1l A G 3: 97,597,772 F160L probably damaging Het
Ciita T A 16: 10,511,745 V628E probably benign Het
Dis3l2 T A 1: 86,745,494 I69N probably damaging Het
Dnase1l1 C T X: 74,277,038 probably null Homo
Elp2 T C 18: 24,625,549 L503S probably damaging Het
Fcgbp A T 7: 28,113,979 Q2313L possibly damaging Het
Gm14851 A G 8: 21,095,232 C65R possibly damaging Het
Gpr155 A T 2: 73,349,645 I157N probably damaging Het
Hist2h2bb A T 3: 96,270,097 T116S probably benign Het
Kcnj1 T C 9: 32,397,261 V307A probably benign Het
Lama3 G A 18: 12,419,257 probably null Het
Lrp6 A T 6: 134,507,558 Y367* probably null Het
Ms4a14 T A 19: 11,303,645 Q516H unknown Het
Nprl3 C T 11: 32,234,812 R399Q probably benign Het
Olfr273 A T 4: 52,856,192 M107K possibly damaging Het
Olfr290 A T 7: 84,916,462 I228F probably damaging Het
Park7 G T 4: 150,905,264 Q80K probably benign Het
Pramef20 C A 4: 144,377,030 L175F possibly damaging Het
Ptgs2 T C 1: 150,103,987 V281A possibly damaging Het
Speer4f2 A G 5: 17,374,422 E73G probably damaging Het
Spta1 T C 1: 174,178,685 W138R probably damaging Het
U2surp T C 9: 95,472,071 E838G probably damaging Het
Urb2 G T 8: 124,031,125 E1190D probably damaging Het
Usp19 G T 9: 108,499,727 L1165F probably damaging Het
Zfp27 G A 7: 29,896,393 T49I possibly damaging Het
Other mutations in Rprd1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0349:Rprd1a UTSW 18 24506847 missense possibly damaging 0.95
R0570:Rprd1a UTSW 18 24509895 missense probably damaging 1.00
R2441:Rprd1a UTSW 18 24507200 nonsense probably null
R2990:Rprd1a UTSW 18 24506839 missense probably damaging 1.00
R4260:Rprd1a UTSW 18 24488295 missense possibly damaging 0.57
R4563:Rprd1a UTSW 18 24507103 critical splice donor site probably null
R5215:Rprd1a UTSW 18 24488200 missense probably damaging 1.00
R5433:Rprd1a UTSW 18 24507231 missense probably benign 0.13
R7485:Rprd1a UTSW 18 24506832 critical splice donor site probably null
R7750:Rprd1a UTSW 18 24508254 nonsense probably null
R8801:Rprd1a UTSW 18 24508223 missense probably benign 0.44
R8883:Rprd1a UTSW 18 24507203 missense possibly damaging 0.50
RF020:Rprd1a UTSW 18 24530005 missense probably damaging 1.00
Predicted Primers
Posted On 2018-06-25