Incidental Mutation 'IGL01121:Rcan2'
ID 53091
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rcan2
Ensembl Gene ENSMUSG00000039601
Gene Name regulator of calcineurin 2
Synonyms ZAKI-4, MCIP2, Csp2, Dscr1l1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL01121
Quality Score
Status
Chromosome 17
Chromosomal Location 44112243-44350407 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44328775 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9JHG2
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: 62,888,219 (GRCm39) noncoding transcript Het
4930432E11Rik A T 7: 29,273,426 (GRCm39) noncoding transcript Het
Alg3 T C 16: 20,429,397 (GRCm39) E31G probably damaging Het
Arhgap29 A G 3: 121,803,512 (GRCm39) E764G probably damaging Het
Atp5mf C A 5: 145,121,378 (GRCm39) V68L probably benign Het
Birc6 T A 17: 74,938,033 (GRCm39) I2645K probably benign Het
Capn11 A G 17: 45,950,058 (GRCm39) S369P probably benign Het
Car4 A T 11: 84,855,172 (GRCm39) probably null Het
Ccdc185 C T 1: 182,576,222 (GRCm39) V156I probably benign Het
Cpsf2 G T 12: 101,954,965 (GRCm39) E245D probably damaging Het
Dnah11 T C 12: 118,014,430 (GRCm39) D2019G probably benign Het
Dscc1 A G 15: 54,945,721 (GRCm39) probably benign Het
Dzip3 T C 16: 48,765,244 (GRCm39) D490G probably benign Het
E2f8 G A 7: 48,517,569 (GRCm39) Q745* probably null Het
Fat3 T A 9: 15,909,697 (GRCm39) T2102S probably benign Het
Fgf7 C T 2: 125,930,152 (GRCm39) probably benign Het
Fstl4 T C 11: 52,705,464 (GRCm39) F47L probably benign Het
Gm15097 A T X: 148,587,324 (GRCm39) R129S possibly damaging Het
Gm4297 C T X: 24,418,854 (GRCm39) D200N probably benign Het
Itgb5 G T 16: 33,740,359 (GRCm39) D490Y probably benign Het
Kansl1 A G 11: 104,226,422 (GRCm39) S912P probably benign Het
Kcnq3 A T 15: 65,877,826 (GRCm39) probably benign Het
Kctd6 A G 14: 8,222,656 (GRCm38) H166R possibly damaging Het
Kel T C 6: 41,679,343 (GRCm39) D140G probably benign Het
Lrif1 C A 3: 106,642,980 (GRCm39) S177* probably null Het
Lrp1 A T 10: 127,419,722 (GRCm39) C962* probably null Het
Lypd5 A T 7: 24,050,976 (GRCm39) Y29F probably benign Het
Mmrn1 A G 6: 60,952,928 (GRCm39) D403G possibly damaging Het
Nhsl1 T G 10: 18,387,458 (GRCm39) V244G probably damaging Het
Or6c35 T C 10: 129,168,804 (GRCm39) I18T probably benign Het
Ptprd A T 4: 75,872,438 (GRCm39) probably benign Het
Rprd2 A G 3: 95,683,862 (GRCm39) L373P probably damaging Het
Slc10a4 T C 5: 73,164,929 (GRCm39) C174R probably damaging Het
Tas2r134 C T 2: 51,518,001 (GRCm39) T160I probably damaging Het
Tbc1d19 T A 5: 54,054,404 (GRCm39) L464* probably null Het
Tmem45a2 C T 16: 56,861,153 (GRCm39) D225N possibly damaging Het
Unc79 G A 12: 103,131,890 (GRCm39) C2139Y probably damaging Het
Vmn2r101 G T 17: 19,809,936 (GRCm39) G241C probably damaging Het
Vmn2r91 T C 17: 18,356,766 (GRCm39) V811A possibly damaging Het
Wdr11 T C 7: 129,229,746 (GRCm39) Y844H probably benign Het
Wdr70 T C 15: 7,902,655 (GRCm39) K656E possibly damaging Het
Zfp579 C A 7: 4,996,246 (GRCm39) C555F possibly damaging Het
Other mutations in Rcan2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Rcan2 APN 17 44,347,960 (GRCm39) missense possibly damaging 0.61
IGL00430:Rcan2 APN 17 44,147,275 (GRCm39) missense probably benign 0.08
IGL00958:Rcan2 APN 17 44,347,908 (GRCm39) missense probably damaging 1.00
IGL01397:Rcan2 APN 17 44,147,359 (GRCm39) missense possibly damaging 0.56
IGL01897:Rcan2 APN 17 44,147,325 (GRCm39) missense probably damaging 0.99
R1510:Rcan2 UTSW 17 44,147,315 (GRCm39) missense probably damaging 1.00
R1803:Rcan2 UTSW 17 44,347,924 (GRCm39) missense probably damaging 1.00
R1862:Rcan2 UTSW 17 44,347,980 (GRCm39) splice site probably null
R3841:Rcan2 UTSW 17 44,347,870 (GRCm39) missense probably benign 0.25
R4241:Rcan2 UTSW 17 44,264,370 (GRCm39) missense probably benign 0.03
R4402:Rcan2 UTSW 17 44,264,361 (GRCm39) missense probably benign 0.00
R4955:Rcan2 UTSW 17 44,347,972 (GRCm39) missense probably damaging 1.00
R5014:Rcan2 UTSW 17 44,328,704 (GRCm39) missense probably damaging 1.00
R5470:Rcan2 UTSW 17 44,147,174 (GRCm39) missense probably benign 0.02
R5555:Rcan2 UTSW 17 44,347,921 (GRCm39) missense probably damaging 1.00
R6393:Rcan2 UTSW 17 44,264,370 (GRCm39) missense probably benign 0.03
R6478:Rcan2 UTSW 17 44,147,225 (GRCm39) missense probably benign
R7007:Rcan2 UTSW 17 44,147,216 (GRCm39) missense probably benign
R7307:Rcan2 UTSW 17 44,331,993 (GRCm39) nonsense probably null
R7602:Rcan2 UTSW 17 44,328,689 (GRCm39) missense probably benign 0.00
R9044:Rcan2 UTSW 17 44,147,245 (GRCm39) missense probably benign 0.30
R9199:Rcan2 UTSW 17 44,264,423 (GRCm39) missense probably benign
R9251:Rcan2 UTSW 17 44,328,701 (GRCm39) missense possibly damaging 0.94
Posted On 2013-06-21