Incidental Mutation 'IGL02574:Rcan3'
ID299129
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rcan3
Ensembl Gene ENSMUSG00000059713
Gene Nameregulator of calcineurin 3
SynonymsCsp3, Dscr1l2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL02574
Quality Score
Status
Chromosome4
Chromosomal Location135412308-135433853 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 135425395 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 5 (S5N)
Ref Sequence ENSEMBL: ENSMUSP00000118447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030606] [ENSMUST00000132654] [ENSMUST00000156635]
Predicted Effect probably benign
Transcript: ENSMUST00000030606
AA Change: S5N

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000030606
Gene: ENSMUSG00000059713
AA Change: S5N

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Pfam:Calcipressin 56 226 9e-67 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132654
SMART Domains Protein: ENSMUSP00000114220
Gene: ENSMUSG00000059713

DomainStartEndE-ValueType
Pfam:Calcipressin 9 135 1.1e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149741
Predicted Effect probably benign
Transcript: ENSMUST00000156635
AA Change: S5N

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000118447
Gene: ENSMUSG00000059713
AA Change: S5N

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
Pfam:Calcipressin 56 159 1.6e-40 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef12 T C 9: 43,005,623 D409G probably damaging Het
AW551984 A C 9: 39,589,086 L792R possibly damaging Het
Cep192 A G 18: 67,841,279 E1151G probably damaging Het
Cfap44 C A 16: 44,481,383 P1828Q probably damaging Het
Chid1 A T 7: 141,496,690 probably benign Het
Col6a6 C A 9: 105,782,191 L518F probably damaging Het
Ctsz C T 2: 174,429,098 R201K probably benign Het
D430042O09Rik A G 7: 125,829,753 T516A possibly damaging Het
Diras1 T C 10: 81,022,285 Y44C probably damaging Het
Grip1 T C 10: 119,942,913 V159A probably damaging Het
Hpd T C 5: 123,179,357 probably benign Het
Jag2 T C 12: 112,915,511 N463S probably benign Het
Kmt2a C A 9: 44,830,513 probably benign Het
Myo5a A G 9: 75,211,147 N1619D probably benign Het
Ncbp1 A G 4: 46,168,449 probably null Het
Olfr103 G T 17: 37,336,524 A236E probably damaging Het
Olfr133 C T 17: 38,149,389 T267I possibly damaging Het
Pacsin2 G T 15: 83,388,663 A154E possibly damaging Het
Plcd4 A T 1: 74,564,380 I647F probably damaging Het
Prdm10 C T 9: 31,357,293 A846V probably damaging Het
Ptgs2 G T 1: 150,102,775 G213* probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Serpinc1 A G 1: 161,002,459 N465S probably benign Het
Slc40a1 T C 1: 45,912,374 I208V possibly damaging Het
Vcl C T 14: 20,929,575 Q19* probably null Het
Other mutations in Rcan3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0016:Rcan3 UTSW 4 135418378 critical splice donor site probably null
R0412:Rcan3 UTSW 4 135416603 splice site probably null
R1531:Rcan3 UTSW 4 135425284 missense probably damaging 0.98
R1938:Rcan3 UTSW 4 135412501 splice site probably null
R2229:Rcan3 UTSW 4 135425377 missense probably benign 0.30
R5159:Rcan3 UTSW 4 135425281 missense probably damaging 0.99
R5973:Rcan3 UTSW 4 135418542 missense probably benign 0.00
R7070:Rcan3 UTSW 4 135416587 missense probably damaging 1.00
R7649:Rcan3 UTSW 4 135412488 missense probably benign 0.12
R8201:Rcan3 UTSW 4 135420373 missense probably damaging 1.00
Posted On2015-04-16