Incidental Mutation 'IGL02327:Ctdsp2'
ID288527
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctdsp2
Ensembl Gene ENSMUSG00000078429
Gene NameCTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2
SynonymsOS4, SCP2, D10Ertd73e
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.559) question?
Stock #IGL02327
Quality Score
Status
Chromosome10
Chromosomal Location126978717-126999975 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 126996382 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 237 (D237N)
Ref Sequence ENSEMBL: ENSMUSP00000100891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026500] [ENSMUST00000105255] [ENSMUST00000105256] [ENSMUST00000142698]
Predicted Effect probably benign
Transcript: ENSMUST00000026500
SMART Domains Protein: ENSMUSP00000026500
Gene: ENSMUSG00000025432

DomainStartEndE-ValueType
GEL 14 111 9.44e-24 SMART
GEL 132 226 8.89e-20 SMART
GEL 253 346 1.19e-29 SMART
GEL 395 492 2.07e-29 SMART
GEL 512 598 4.01e-27 SMART
GEL 617 711 2.81e-31 SMART
VHP 784 819 1.31e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083496
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102105
Predicted Effect probably benign
Transcript: ENSMUST00000105255
AA Change: D86N

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000100890
Gene: ENSMUSG00000078429
AA Change: D86N

DomainStartEndE-ValueType
CPDc 1 91 3.33e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105256
AA Change: D237N

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000100891
Gene: ENSMUSG00000078429
AA Change: D237N

DomainStartEndE-ValueType
low complexity region 25 32 N/A INTRINSIC
CPDc 99 242 1.45e-74 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142698
SMART Domains Protein: ENSMUSP00000117667
Gene: ENSMUSG00000025432

DomainStartEndE-ValueType
SCOP:d1d4xg_ 5 53 2e-17 SMART
PDB:2VIL|A 14 53 2e-14 PDB
Blast:GEL 14 54 7e-24 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217738
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,977,415 C29S probably damaging Het
Ccdc66 G A 14: 27,493,386 A399V probably damaging Het
Ccl12 A G 11: 82,103,122 I68M possibly damaging Het
Cd244 T C 1: 171,559,341 V6A probably benign Het
Cfap97 T A 8: 46,170,142 S190T probably damaging Het
Chic2 G T 5: 75,027,080 C106* probably null Het
Cyp2a22 A T 7: 26,934,781 M316K probably damaging Het
Cyp3a25 A G 5: 145,986,921 F304S possibly damaging Het
Ddc A T 11: 11,863,739 V209D probably damaging Het
Dhx16 A G 17: 35,883,825 K446R probably benign Het
Fgd3 T C 13: 49,285,798 K241E probably damaging Het
Hps1 G T 19: 42,756,345 probably benign Het
Inpp4b C T 8: 82,041,962 T700I probably benign Het
Kremen2 T A 17: 23,743,569 M157L probably benign Het
Lrwd1 T C 5: 136,123,464 Y582C probably damaging Het
Macf1 T A 4: 123,471,730 R1514S probably benign Het
Mex3c T A 18: 73,590,710 C625S probably damaging Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Ncf2 A T 1: 152,816,993 Y87F possibly damaging Het
Neo1 T C 9: 58,903,088 T1027A probably benign Het
Nfkbib G T 7: 28,759,143 P347Q probably benign Het
Nr1h2 G A 7: 44,551,500 probably benign Het
Olfr1158 A T 2: 87,990,257 I49F probably damaging Het
Olfr224 T A 11: 58,566,935 R137W probably damaging Het
Olfr384 A T 11: 73,603,155 T192S probably damaging Het
Oxct1 A G 15: 4,037,089 probably null Het
Pak1ip1 T G 13: 41,012,417 N308K probably benign Het
Prpf38a T C 4: 108,568,410 R224G unknown Het
Scfd1 T C 12: 51,389,317 V83A possibly damaging Het
Tmem131 C T 1: 36,799,022 G1545D probably damaging Het
Trav13n-4 A T 14: 53,364,110 probably benign Het
Ttc3 A G 16: 94,448,108 D1155G probably damaging Het
Unc80 G A 1: 66,641,673 V2143I probably benign Het
Vmn2r16 T C 5: 109,340,121 Y287H probably benign Het
Vmn2r59 A G 7: 42,012,231 V720A probably benign Het
Wars T A 12: 108,866,301 probably null Het
Wdcp A G 12: 4,851,115 K324E possibly damaging Het
Wdfy3 A T 5: 101,888,192 L2105H probably damaging Het
Xirp2 A T 2: 67,510,100 D895V probably damaging Het
Zscan10 A T 17: 23,607,572 probably benign Het
Other mutations in Ctdsp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01417:Ctdsp2 APN 10 126993874 missense probably benign 0.08
IGL03283:Ctdsp2 APN 10 126996397 missense probably benign 0.00
R1463:Ctdsp2 UTSW 10 126993921 splice site probably benign
R4724:Ctdsp2 UTSW 10 126993069 missense probably damaging 0.99
R5327:Ctdsp2 UTSW 10 126996054 missense probably damaging 1.00
R5385:Ctdsp2 UTSW 10 126996457 missense probably benign
R5994:Ctdsp2 UTSW 10 126995820 unclassified probably benign
R6283:Ctdsp2 UTSW 10 126995880 missense possibly damaging 0.76
R8558:Ctdsp2 UTSW 10 126993877 missense probably damaging 1.00
Z1177:Ctdsp2 UTSW 10 126996072 missense probably damaging 1.00
Posted On2015-04-16