Incidental Mutation 'R0009:Ctdspl'
ID 8060
Institutional Source Beutler Lab
Gene Symbol Ctdspl
Ensembl Gene ENSMUSG00000047409
Gene Name CTD small phosphatase like
Synonyms SCP3, HYA22, 2810418J22Rik
MMRRC Submission 038304-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0009 (G1)
Quality Score
Status Validated
Chromosome 9
Chromosomal Location 118755521-118873066 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 118849114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000072852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073109] [ENSMUST00000172464]
AlphaFold P58465
Predicted Effect probably null
Transcript: ENSMUST00000073109
SMART Domains Protein: ENSMUSP00000072852
Gene: ENSMUSG00000047409

DomainStartEndE-ValueType
CPDc 105 248 1.67e-79 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172464
SMART Domains Protein: ENSMUSP00000133755
Gene: ENSMUSG00000047409

DomainStartEndE-ValueType
CPDc 94 237 1.67e-79 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174841
Meta Mutation Damage Score 0.9488 question?
Coding Region Coverage
  • 1x: 79.7%
  • 3x: 70.1%
  • 10x: 44.5%
  • 20x: 24.1%
Validation Efficiency 93% (78/84)
Allele List at MGI

All alleles(10) : Targeted(1) Gene trapped(9)

Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T G 15: 60,791,482 (GRCm39) probably benign Het
Afm C A 5: 90,693,243 (GRCm39) probably benign Het
Aplnr T A 2: 84,967,620 (GRCm39) probably null Het
Arih2 T A 9: 108,488,926 (GRCm39) H264L probably damaging Het
Ccdc116 T C 16: 16,961,903 (GRCm39) E15G probably damaging Het
Cfap53 A G 18: 74,432,247 (GRCm39) H45R probably benign Het
Chd3 A G 11: 69,240,732 (GRCm39) L1569P probably damaging Het
Cntn2 G A 1: 132,443,918 (GRCm39) Q457* probably null Het
Coro1a A T 7: 126,300,585 (GRCm39) probably benign Het
Cracr2b T A 7: 141,043,672 (GRCm39) L91Q probably damaging Het
Dnase1 T C 16: 3,856,810 (GRCm39) V147A probably damaging Het
Glud1 G A 14: 34,056,225 (GRCm39) G300S probably benign Het
Gm4847 C T 1: 166,458,055 (GRCm39) V433I probably benign Het
Herc2 T C 7: 55,857,560 (GRCm39) S4048P probably benign Het
Hp1bp3 T A 4: 137,948,994 (GRCm39) I19K probably benign Het
Il1a C T 2: 129,150,994 (GRCm39) D10N probably damaging Het
Il22ra2 A T 10: 19,500,206 (GRCm39) N39I probably damaging Het
Magi2 A T 5: 20,816,053 (GRCm39) Y747F probably benign Het
Mcc C T 18: 44,579,000 (GRCm39) E803K probably damaging Het
Rims2 T A 15: 39,398,362 (GRCm39) M1087K probably damaging Het
Riox2 C A 16: 59,309,730 (GRCm39) D361E probably benign Het
Slc35e1 A T 8: 73,238,553 (GRCm39) N318K probably damaging Het
Slc9a2 A T 1: 40,802,762 (GRCm39) E604V probably benign Het
Tbx19 A T 1: 164,988,089 (GRCm39) S15T possibly damaging Het
Tm4sf5 C T 11: 70,401,538 (GRCm39) A179V probably damaging Het
Trappc11 A T 8: 47,956,355 (GRCm39) C874S possibly damaging Het
Trpm3 T A 19: 22,891,810 (GRCm39) Y885N probably damaging Het
Unc5a T A 13: 55,150,692 (GRCm39) C505S probably damaging Het
Xpo5 T C 17: 46,515,712 (GRCm39) probably benign Het
Other mutations in Ctdspl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02494:Ctdspl APN 9 118,866,484 (GRCm39) missense probably damaging 1.00
R0009:Ctdspl UTSW 9 118,849,114 (GRCm39) critical splice donor site probably null
R1531:Ctdspl UTSW 9 118,869,650 (GRCm39) missense probably damaging 1.00
R6979:Ctdspl UTSW 9 118,869,598 (GRCm39) missense probably damaging 1.00
R7062:Ctdspl UTSW 9 118,866,538 (GRCm39) missense probably damaging 0.99
R7233:Ctdspl UTSW 9 118,849,114 (GRCm39) critical splice donor site probably null
R9474:Ctdspl UTSW 9 118,866,445 (GRCm39) missense probably damaging 1.00
X0024:Ctdspl UTSW 9 118,866,588 (GRCm39) missense probably damaging 1.00
Protein Function and Prediction

Ctdspl encodes the ubiquitously expressed small C-terminal domain (CTD) phosphatase 3 (SCP3) (1), a member of the SCP family of phosphatases that functions in dephosphorylates serine five of the CTD consensus sequence on RNA polymerase II (2).  SCP3 has been identified as a tumor suppressor of epithelial malignancies, possibly through the dephosphorylation of ppRB that blocks the cell cycle at G1/S (3).  Alterations in CTDSPL are also linked to early and late-onset breast carcinoma (4), non-small cell lung cancer (5;6), cervical carcinoma  (7;8), and dysplastic lesions of the head and neck (9). Along with SCP1 and SCP2, SCP3 can dephosphorylate Smad1 to inhibit BMP signaling and subsequent osteoblast differentiation (10;11).  Also they can serve as a Smad2/3 linker to enhance TGFβ signaling (12;13).

References
Posted On 2012-11-20
Science Writer Anne Murray