Incidental Mutation 'IGL00430:Rcan2'
ID 3848
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 # IGL00430
Quality Score
Status
Chromosome 17
Chromosomal Location 44112243-44350407 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44147275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 38 (T38A)
Ref Sequence ENSEMBL: ENSMUSP00000154835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044895] [ENSMUST00000228972] [ENSMUST00000229744]
AlphaFold Q9JHG2
Predicted Effect probably benign
Transcript: ENSMUST00000044895
AA Change: T38A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000039473
Gene: ENSMUSG00000039601
AA Change: T38A

DomainStartEndE-ValueType
Pfam:Calcipressin 66 237 1.3e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228972
AA Change: T38A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000229744
AA Change: T38A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 G A 19: 43,772,641 (GRCm39) S17N probably benign Het
Atp2a1 C T 7: 126,046,388 (GRCm39) W72* probably null Het
Baz2b C A 2: 59,743,139 (GRCm39) A1611S probably benign Het
Cep290 A T 10: 100,344,586 (GRCm39) I475L probably benign Het
Cpsf4l C T 11: 113,600,044 (GRCm39) probably benign Het
Crispld2 A T 8: 120,760,299 (GRCm39) R408S probably damaging Het
Cyp3a25 A T 5: 145,930,170 (GRCm39) M145K probably damaging Het
Dexi A T 16: 10,360,309 (GRCm39) D82E probably benign Het
Epyc A T 10: 97,517,009 (GRCm39) K282N probably benign Het
Ercc6l2 G T 13: 64,006,133 (GRCm39) V588F probably damaging Het
Galnt14 C T 17: 73,801,227 (GRCm39) V532I probably damaging Het
Grk1 C A 8: 13,463,128 (GRCm39) Y383* probably null Het
Gtpbp1 G T 15: 79,603,337 (GRCm39) G609W possibly damaging Het
Hadha C T 5: 30,325,145 (GRCm39) V682M possibly damaging Het
Igdcc3 A C 9: 65,089,301 (GRCm39) D499A probably damaging Het
Kcna10 T G 3: 107,102,044 (GRCm39) V225G probably damaging Het
Kcnh4 T C 11: 100,648,480 (GRCm39) T75A possibly damaging Het
Lama4 A G 10: 38,921,700 (GRCm39) E407G possibly damaging Het
Mrpl13 T A 15: 55,403,597 (GRCm39) K105N probably damaging Het
Pcdhb2 A T 18: 37,429,516 (GRCm39) probably null Het
Pck2 C T 14: 55,781,401 (GRCm39) A209V probably benign Het
Plce1 A G 19: 38,713,461 (GRCm39) E1243G probably damaging Het
Plekhh2 A T 17: 84,829,203 (GRCm39) M25L probably benign Het
Rasef G A 4: 73,689,662 (GRCm39) Q117* probably null Het
Rbm14 A G 19: 4,861,454 (GRCm39) V28A probably damaging Het
Rin1 A G 19: 5,101,404 (GRCm39) N96S probably benign Het
Rrp12 A G 19: 41,865,773 (GRCm39) probably null Het
Slco1a6 A T 6: 142,047,377 (GRCm39) C404* probably null Het
St6galnac3 T C 3: 153,215,040 (GRCm39) N38S probably benign Het
Top2b T A 14: 16,422,692 (GRCm38) S1376R probably benign Het
Trip11 T C 12: 101,852,406 (GRCm39) I553V probably benign Het
Trip12 T G 1: 84,741,582 (GRCm39) H559P probably damaging Het
Uggt2 A T 14: 119,263,841 (GRCm39) L1063* probably null Het
Zmym6 T A 4: 126,995,742 (GRCm39) C269* probably null Het
Other mutations in Rcan2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Rcan2 APN 17 44,347,960 (GRCm39) missense possibly damaging 0.61
IGL00958:Rcan2 APN 17 44,347,908 (GRCm39) missense probably damaging 1.00
IGL01121:Rcan2 APN 17 44,328,775 (GRCm39) missense probably damaging 0.99
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 2012-04-20