Incidental Mutation 'IGL02221:Cpped1'
ID285149
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpped1
Ensembl Gene ENSMUSG00000065979
Gene Namecalcineurin-like phosphoesterase domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL02221
Quality Score
Status
Chromosome16
Chromosomal Location11803721-11909445 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 11828528 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 144 (P144Q)
Ref Sequence ENSEMBL: ENSMUSP00000119989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096272] [ENSMUST00000121750] [ENSMUST00000127972]
Predicted Effect probably damaging
Transcript: ENSMUST00000096272
AA Change: P120Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093992
Gene: ENSMUSG00000065979
AA Change: P120Q

DomainStartEndE-ValueType
Pfam:Metallophos 33 250 4.6e-14 PFAM
Pfam:Metallophos_2 63 285 6e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121750
AA Change: P106Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112587
Gene: ENSMUSG00000065979
AA Change: P106Q

DomainStartEndE-ValueType
Pfam:Metallophos 25 236 1e-14 PFAM
Pfam:Metallophos_2 45 271 6.8e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000127972
AA Change: P144Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119989
Gene: ENSMUSG00000065979
AA Change: P144Q

DomainStartEndE-ValueType
Pfam:Metallophos 57 239 2e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145169
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,356,948 I24M probably benign Het
Ano5 G A 7: 51,570,323 D390N probably damaging Het
Atp2c2 A G 8: 119,744,334 Y407C probably damaging Het
B430306N03Rik T C 17: 48,324,195 probably benign Het
BC052040 T C 2: 115,639,066 probably null Het
Cd44 A T 2: 102,846,513 M269K probably benign Het
Epas1 C T 17: 86,827,847 T636M possibly damaging Het
Hsd17b3 G T 13: 64,089,051 H26Q probably benign Het
Ighv8-9 A G 12: 115,468,327 probably benign Het
Itih1 A T 14: 30,929,587 C883S probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Lcn3 A T 2: 25,766,160 M76L probably benign Het
Lin9 A T 1: 180,650,834 M53L probably benign Het
Mast1 A G 8: 84,918,755 V687A possibly damaging Het
Mmd2 C T 5: 142,569,457 probably benign Het
Mroh2b T C 15: 4,923,641 L619S probably damaging Het
Ngef T C 1: 87,540,696 T114A probably benign Het
Nlrp12 T C 7: 3,240,967 D305G possibly damaging Het
Nlrp1a A T 11: 71,123,118 F435L possibly damaging Het
Nup188 A G 2: 30,330,641 I909V possibly damaging Het
Osbpl3 A C 6: 50,327,367 probably benign Het
P2ry2 G T 7: 100,998,114 P328H possibly damaging Het
Prex2 A T 1: 11,061,345 N46I probably benign Het
Prss42 T C 9: 110,803,175 F325L possibly damaging Het
Reep5 A G 18: 34,349,797 F120L probably damaging Het
Scg3 G T 9: 75,683,657 F23L probably damaging Het
Scx A G 15: 76,459,095 D200G probably benign Het
Setd5 C T 6: 113,121,170 probably benign Het
Tcf4 T A 18: 69,347,367 S23R probably damaging Het
Ttc4 A G 4: 106,676,596 probably null Het
Tyro3 T A 2: 119,812,590 C627S probably benign Het
Yipf2 T C 9: 21,591,468 N106S possibly damaging Het
Zfp619 T C 7: 39,536,910 L788P probably benign Het
Zfp831 G A 2: 174,643,726 V65I probably benign Het
Zgpat T C 2: 181,378,858 S275P probably benign Het
Other mutations in Cpped1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02448:Cpped1 APN 16 11805389 missense probably benign 0.30
IGL03048:Cpped1 UTSW 16 11828475 missense probably benign 0.23
R0725:Cpped1 UTSW 16 11828450 missense probably damaging 0.97
R2084:Cpped1 UTSW 16 11828501 missense probably damaging 1.00
R2276:Cpped1 UTSW 16 11894881 critical splice donor site probably null
R3702:Cpped1 UTSW 16 11828440 missense probably damaging 1.00
R4321:Cpped1 UTSW 16 11887746 missense probably benign 0.35
R4407:Cpped1 UTSW 16 11805421 missense probably damaging 0.96
R4421:Cpped1 UTSW 16 11805357 makesense probably null
R4672:Cpped1 UTSW 16 11805374 nonsense probably null
R4704:Cpped1 UTSW 16 11885629 intron probably benign
R4928:Cpped1 UTSW 16 11828279 missense probably damaging 1.00
R5647:Cpped1 UTSW 16 11828146 unclassified probably benign
R7260:Cpped1 UTSW 16 11828463 missense possibly damaging 0.90
R7610:Cpped1 UTSW 16 11894878 splice site probably null
R8008:Cpped1 UTSW 16 11828396 missense probably damaging 1.00
X0017:Cpped1 UTSW 16 11828292 missense probably damaging 1.00
Posted On2015-04-16