Incidental Mutation 'R6544:Pspc1'
ID 521053
Institutional Source Beutler Lab
Gene Symbol Pspc1
Ensembl Gene ENSMUSG00000021938
Gene Name paraspeckle protein 1
Synonyms PSP1, 5730470C09Rik
MMRRC Submission 044670-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6544 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 56959898-57015775 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 57001660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 59 (*59W)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022507] [ENSMUST00000163924]
AlphaFold Q8R326
Predicted Effect probably damaging
Transcript: ENSMUST00000022507
AA Change: D238G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022507
Gene: ENSMUSG00000021938
AA Change: D238G

DomainStartEndE-ValueType
low complexity region 23 42 N/A INTRINSIC
RRM 82 149 8.91e-21 SMART
RRM 156 232 1.51e-9 SMART
low complexity region 298 310 N/A INTRINSIC
low complexity region 320 344 N/A INTRINSIC
low complexity region 350 376 N/A INTRINSIC
low complexity region 417 430 N/A INTRINSIC
low complexity region 433 452 N/A INTRINSIC
low complexity region 494 516 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163924
AA Change: D238G

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133038
Gene: ENSMUSG00000021938
AA Change: D238G

DomainStartEndE-ValueType
low complexity region 23 42 N/A INTRINSIC
RRM 82 149 8.91e-21 SMART
RRM 156 232 1.51e-9 SMART
low complexity region 298 310 N/A INTRINSIC
low complexity region 320 344 N/A INTRINSIC
low complexity region 350 376 N/A INTRINSIC
low complexity region 417 430 N/A INTRINSIC
low complexity region 433 452 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168524
Predicted Effect probably null
Transcript: ENSMUST00000168575
AA Change: *59W
SMART Domains Protein: ENSMUSP00000125780
Gene: ENSMUSG00000021938
AA Change: *59W

DomainStartEndE-ValueType
RRM 5 56 2.12e-4 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleolar protein that localizes to punctate subnuclear structures that occur close to splicing speckles, known as paraspeckles. These paraspeckles are composed of RNA-protein structures that include a non-coding RNA, NEAT1/Men epsilon/beta, and the Drosophila Behavior Human Splicing family of proteins, which include the product of this gene and the P54NRB/NONO and PSF/SFPQ proteins. Paraspeckles may function in the control of gene expression via an RNA nuclear retention mechanism. The protein encoded by this gene is found in paraspeckles in transcriptionally active cells, but it localizes to unique cap structures at the nucleolar periphery when RNA polymerase II transcription is inhibited, or during telophase. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene, which is also located on chromosome 13, has been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a gene trap allele do not display any gross abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005K14Rik T A 1: 83,036,678 (GRCm39) K118* probably null Het
Actr2 A G 11: 20,050,933 (GRCm39) F17L probably damaging Het
Adam26b T C 8: 43,974,818 (GRCm39) I61M probably damaging Het
Ahcyl A C 16: 45,975,147 (GRCm39) S77A probably benign Het
Ahnak2 A G 12: 112,746,829 (GRCm39) probably benign Het
Angptl3 T C 4: 98,919,675 (GRCm39) L145P probably damaging Het
Ank2 T C 3: 126,726,871 (GRCm39) T808A probably damaging Het
Ark2c T A 18: 77,650,931 (GRCm39) probably benign Het
Cadm3 A G 1: 173,194,977 (GRCm39) probably null Het
Cog7 C T 7: 121,534,966 (GRCm39) R573Q probably damaging Het
Dchs1 T A 7: 105,407,385 (GRCm39) I2110F probably damaging Het
Fbxo47 G A 11: 97,747,089 (GRCm39) R326C probably damaging Het
Frmpd1 A T 4: 45,279,024 (GRCm39) D583V probably damaging Het
Gigyf1 T A 5: 137,523,321 (GRCm39) L911Q probably damaging Het
Gprin1 G A 13: 54,888,124 (GRCm39) A50V possibly damaging Het
Grik4 A T 9: 42,459,024 (GRCm39) Y571* probably null Het
Gucy2e A G 11: 69,126,483 (GRCm39) V299A probably benign Het
Hectd2 C T 19: 36,589,728 (GRCm39) L618F probably damaging Het
Lactbl1 A T 4: 136,360,300 (GRCm39) I160F possibly damaging Het
Lats1 T A 10: 7,577,434 (GRCm39) V186D possibly damaging Het
Lmtk2 A G 5: 144,110,624 (GRCm39) H448R possibly damaging Het
Map10 T C 8: 126,398,113 (GRCm39) I502T probably benign Het
Mok A G 12: 110,777,189 (GRCm39) F239S probably damaging Het
Mprip G A 11: 59,648,552 (GRCm39) G752D probably benign Het
Naip5 C A 13: 100,359,652 (GRCm39) G528V possibly damaging Het
Neu2 T C 1: 87,524,464 (GRCm39) W150R probably damaging Het
Or1ak2 T A 2: 36,827,539 (GRCm39) M136K possibly damaging Het
Or5an1 T C 19: 12,260,519 (GRCm39) Y36H probably damaging Het
Or5as1 T A 2: 86,980,207 (GRCm39) Y266F probably damaging Het
Or5l13 T A 2: 87,780,335 (GRCm39) M81L probably benign Het
Pip5k1c T A 10: 81,144,830 (GRCm39) Y224N probably damaging Het
Plch1 T C 3: 63,758,399 (GRCm39) E5G probably damaging Het
Ptprq T C 10: 107,444,102 (GRCm39) T1501A probably damaging Het
Rorb G T 19: 18,929,614 (GRCm39) P304T possibly damaging Het
Scn7a A T 2: 66,514,444 (GRCm39) L1110Q probably damaging Het
Serpine2 C T 1: 79,780,847 (GRCm39) probably null Het
Slco1c1 A G 6: 141,477,170 (GRCm39) probably null Het
Smarca2 T A 19: 26,608,331 (GRCm39) V130D probably damaging Het
Sox17 G T 1: 4,562,655 (GRCm39) P117T possibly damaging Het
Sparcl1 A T 5: 104,240,310 (GRCm39) Y371* probably null Het
Tdpoz2 T C 3: 93,559,267 (GRCm39) D235G possibly damaging Het
Tns2 A C 15: 102,022,269 (GRCm39) K1182N possibly damaging Het
Tpte G T 8: 22,805,121 (GRCm39) probably null Het
Ttn A T 2: 76,799,503 (GRCm39) I459K possibly damaging Het
Wdr97 T C 15: 76,242,478 (GRCm39) Y823H probably benign Het
Zc3h15 G A 2: 83,491,492 (GRCm39) R240H probably benign Het
Zfp455 C A 13: 67,355,121 (GRCm39) L130I probably benign Het
Zfp777 A T 6: 48,021,419 (GRCm39) S68T probably damaging Het
Other mutations in Pspc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Pspc1 APN 14 57,009,168 (GRCm39) missense probably damaging 1.00
IGL02281:Pspc1 APN 14 56,960,635 (GRCm39) missense probably benign
IGL02954:Pspc1 APN 14 57,009,217 (GRCm39) missense probably benign 0.17
IGL02989:Pspc1 APN 14 57,009,153 (GRCm39) intron probably benign
Erudite UTSW 14 56,999,305 (GRCm39) missense probably damaging 0.96
perspicacious UTSW 14 57,009,304 (GRCm39) nonsense probably null
R1549:Pspc1 UTSW 14 56,986,398 (GRCm39) missense probably damaging 1.00
R1696:Pspc1 UTSW 14 57,001,700 (GRCm39) missense probably benign 0.02
R4574:Pspc1 UTSW 14 56,999,404 (GRCm39) missense possibly damaging 0.91
R4599:Pspc1 UTSW 14 57,015,246 (GRCm39) critical splice donor site probably null
R5132:Pspc1 UTSW 14 56,960,707 (GRCm39) missense probably benign 0.09
R5243:Pspc1 UTSW 14 57,001,648 (GRCm39) missense probably damaging 1.00
R5519:Pspc1 UTSW 14 57,009,413 (GRCm39) missense probably benign 0.11
R5610:Pspc1 UTSW 14 57,015,388 (GRCm39) missense probably damaging 1.00
R5724:Pspc1 UTSW 14 57,015,529 (GRCm39) missense probably benign 0.01
R5867:Pspc1 UTSW 14 56,999,498 (GRCm39) splice site probably null
R5968:Pspc1 UTSW 14 57,001,693 (GRCm39) missense probably benign 0.14
R7034:Pspc1 UTSW 14 56,996,085 (GRCm39) critical splice donor site probably null
R7036:Pspc1 UTSW 14 56,996,085 (GRCm39) critical splice donor site probably null
R7961:Pspc1 UTSW 14 57,009,304 (GRCm39) nonsense probably null
R8009:Pspc1 UTSW 14 57,009,304 (GRCm39) nonsense probably null
R8184:Pspc1 UTSW 14 57,001,700 (GRCm39) missense probably benign 0.02
R8221:Pspc1 UTSW 14 57,015,616 (GRCm39) start codon destroyed probably benign 0.01
R9166:Pspc1 UTSW 14 56,999,305 (GRCm39) missense probably damaging 0.96
X0065:Pspc1 UTSW 14 56,962,872 (GRCm39) missense possibly damaging 0.79
Z1177:Pspc1 UTSW 14 56,986,332 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- ACATTCTATTTAGACCAAACCGCTC -3'
(R):5'- AACCATGCCTACCTATTTTGGC -3'

Sequencing Primer
(F):5'- ACCGCTCATTAACCAGATTGTATTC -3'
(R):5'- GTAGAGCATGCTGGCCTCAAATTC -3'
Posted On 2018-06-06