Incidental Mutation 'IGL01121:Rcan2'
ID53091
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rcan2
Ensembl Gene ENSMUSG00000039601
Gene Nameregulator of calcineurin 2
SynonymsCsp2, ZAKI-4, MCIP2, Dscr1l1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.060) question?
Stock #IGL01121
Quality Score
Status
Chromosome17
Chromosomal Location43801351-44039516 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 44017884 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 69 (I69L)
Ref Sequence ENSEMBL: ENSMUSP00000155555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044792] [ENSMUST00000044895] [ENSMUST00000177857] [ENSMUST00000228972] [ENSMUST00000229240] [ENSMUST00000229744]
Predicted Effect probably damaging
Transcript: ENSMUST00000044792
AA Change: I69L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048013
Gene: ENSMUSG00000039601
AA Change: I69L

DomainStartEndE-ValueType
Pfam:Calcipressin 20 191 2.1e-64 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000044895
AA Change: I115L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039473
Gene: ENSMUSG00000039601
AA Change: I115L

DomainStartEndE-ValueType
Pfam:Calcipressin 66 237 1.3e-66 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177857
AA Change: I69L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137211
Gene: ENSMUSG00000039601
AA Change: I69L

DomainStartEndE-ValueType
Pfam:Calcipressin 20 191 2.1e-64 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000228972
AA Change: I115L

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably damaging
Transcript: ENSMUST00000229240
AA Change: I69L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000229744
AA Change: I115L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the regulator of calcineurin (RCAN) protein family. These proteins play a role in many physiological processes by binding to the catalytic domain of calcineurin A, inhibiting calcineurin-mediated nuclear translocation of the transcription factor NFATC1. Expression of this gene in skin fibroblasts is upregulated by thyroid hormone, and the encoded protein may also play a role in endothelial cell function and angiogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out alle exhibit decreased body weight and resistance to diet-induced obesity, steatosis, glucose intolerance, and insulin sensitivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700046A07Rik G A 18: 62,755,148 noncoding transcript Het
4930432E11Rik A T 7: 29,574,001 noncoding transcript Het
Alg3 T C 16: 20,610,647 E31G probably damaging Het
Arhgap29 A G 3: 122,009,863 E764G probably damaging Het
Atp5j2 C A 5: 145,184,568 V68L probably benign Het
Birc6 T A 17: 74,631,038 I2645K probably benign Het
Capn11 A G 17: 45,639,132 S369P probably benign Het
Car4 A T 11: 84,964,346 probably null Het
Ccdc185 C T 1: 182,748,657 V156I probably benign Het
Cpsf2 G T 12: 101,988,706 E245D probably damaging Het
Dnah11 T C 12: 118,050,695 D2019G probably benign Het
Dscc1 A G 15: 55,082,325 probably benign Het
Dzip3 T C 16: 48,944,881 D490G probably benign Het
E2f8 G A 7: 48,867,821 Q745* probably null Het
Fat3 T A 9: 15,998,401 T2102S probably benign Het
Fgf7 C T 2: 126,088,232 probably benign Het
Fstl4 T C 11: 52,814,637 F47L probably benign Het
Gm15097 A T X: 149,804,328 R129S possibly damaging Het
Gm4297 C T X: 24,552,615 D200N probably benign Het
Itgb5 G T 16: 33,919,989 D490Y probably benign Het
Kansl1 A G 11: 104,335,596 S912P probably benign Het
Kcnq3 A T 15: 66,005,977 probably benign Het
Kctd6 A G 14: 8,222,656 H166R possibly damaging Het
Kel T C 6: 41,702,409 D140G probably benign Het
Lrif1 C A 3: 106,735,664 S177* probably null Het
Lrp1 A T 10: 127,583,853 C962* probably null Het
Lypd5 A T 7: 24,351,551 Y29F probably benign Het
Mmrn1 A G 6: 60,975,944 D403G possibly damaging Het
Nhsl1 T G 10: 18,511,710 V244G probably damaging Het
Olfr781 T C 10: 129,332,935 I18T probably benign Het
Ptprd A T 4: 75,954,201 probably benign Het
Rprd2 A G 3: 95,776,550 L373P probably damaging Het
Slc10a4 T C 5: 73,007,586 C174R probably damaging Het
Tas2r134 C T 2: 51,627,989 T160I probably damaging Het
Tbc1d19 T A 5: 53,897,062 L464* probably null Het
Tmem45a2 C T 16: 57,040,790 D225N possibly damaging Het
Unc79 G A 12: 103,165,631 C2139Y probably damaging Het
Vmn2r101 G T 17: 19,589,674 G241C probably damaging Het
Vmn2r91 T C 17: 18,136,504 V811A possibly damaging Het
Wdr11 T C 7: 129,628,022 Y844H probably benign Het
Wdr70 T C 15: 7,873,174 K656E possibly damaging Het
Zfp579 C A 7: 4,993,247 C555F possibly damaging Het
Other mutations in Rcan2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Rcan2 APN 17 44037069 missense possibly damaging 0.61
IGL00430:Rcan2 APN 17 43836384 missense probably benign 0.08
IGL00958:Rcan2 APN 17 44037017 missense probably damaging 1.00
IGL01397:Rcan2 APN 17 43836468 missense possibly damaging 0.56
IGL01897:Rcan2 APN 17 43836434 missense probably damaging 0.99
R1510:Rcan2 UTSW 17 43836424 missense probably damaging 1.00
R1803:Rcan2 UTSW 17 44037033 missense probably damaging 1.00
R1862:Rcan2 UTSW 17 44037089 unclassified probably null
R3841:Rcan2 UTSW 17 44036979 missense probably benign 0.25
R4241:Rcan2 UTSW 17 43953479 missense probably benign 0.03
R4402:Rcan2 UTSW 17 43953470 missense probably benign 0.00
R4955:Rcan2 UTSW 17 44037081 missense probably damaging 1.00
R5014:Rcan2 UTSW 17 44017813 missense probably damaging 1.00
R5470:Rcan2 UTSW 17 43836283 missense probably benign 0.02
R5555:Rcan2 UTSW 17 44037030 missense probably damaging 1.00
R6393:Rcan2 UTSW 17 43953479 missense probably benign 0.03
R6478:Rcan2 UTSW 17 43836334 missense probably benign
R7007:Rcan2 UTSW 17 43836325 missense probably benign
R7307:Rcan2 UTSW 17 44021102 nonsense probably null
R7602:Rcan2 UTSW 17 44017798 missense probably benign 0.00
Posted On2013-06-21