Incidental Mutation 'R9199:Rcan2'
ID 698129
Institutional Source Beutler Lab
Gene Symbol Rcan2
Ensembl Gene ENSMUSG00000039601
Gene Name regulator of calcineurin 2
Synonyms ZAKI-4, MCIP2, Csp2, Dscr1l1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R9199 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 44112243-44350407 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 44264423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 28 (V28I)
Ref Sequence ENSEMBL: ENSMUSP00000137211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044792] [ENSMUST00000044895] [ENSMUST00000177857] [ENSMUST00000228972] [ENSMUST00000229240] [ENSMUST00000229744]
AlphaFold Q9JHG2
Predicted Effect probably benign
Transcript: ENSMUST00000044792
AA Change: V28I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048013
Gene: ENSMUSG00000039601
AA Change: V28I

DomainStartEndE-ValueType
Pfam:Calcipressin 20 191 2.1e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000044895
SMART Domains Protein: ENSMUSP00000039473
Gene: ENSMUSG00000039601

DomainStartEndE-ValueType
Pfam:Calcipressin 66 237 1.3e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177857
AA Change: V28I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137211
Gene: ENSMUSG00000039601
AA Change: V28I

DomainStartEndE-ValueType
Pfam:Calcipressin 20 191 2.1e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228972
Predicted Effect probably benign
Transcript: ENSMUST00000229240
AA Change: V28I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000229744
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (51/51)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A T 16: 88,971,654 (GRCm39) probably benign Het
Abca9 A T 11: 110,056,770 (GRCm39) C17S possibly damaging Het
Acan T G 7: 78,736,057 (GRCm39) F168V probably damaging Het
Acp7 A G 7: 28,316,591 (GRCm39) L128P probably benign Het
Agtpbp1 C A 13: 59,613,808 (GRCm39) M1044I probably benign Het
Arhgef3 A G 14: 27,122,244 (GRCm39) Q361R possibly damaging Het
Brdt A T 5: 107,498,029 (GRCm39) R235* probably null Het
Cacna1d A G 14: 29,764,893 (GRCm39) S2013P probably benign Het
Cacna2d4 T A 6: 119,244,787 (GRCm39) D274E probably benign Het
Ccdc24 T A 4: 117,728,313 (GRCm39) I144F probably null Het
Ceacam5 C G 7: 17,479,350 (GRCm39) L156V probably benign Het
Cenpn G A 8: 117,664,014 (GRCm39) probably null Het
Cfap69 A T 5: 5,668,952 (GRCm39) V385E possibly damaging Het
Cldnd1 A G 16: 58,553,070 (GRCm39) H177R probably damaging Het
Cr1l A T 1: 194,786,177 (GRCm39) V439D probably benign Het
Cul2 A G 18: 3,423,577 (GRCm39) N329S probably benign Het
Cyp2c66 A G 19: 39,130,800 (GRCm39) K138R probably benign Het
Ddx46 G A 13: 55,825,342 (GRCm39) E996K probably damaging Het
Dnah14 A G 1: 181,478,566 (GRCm39) K1444E possibly damaging Het
Evl G A 12: 108,647,814 (GRCm39) probably null Het
Flnc C T 6: 29,441,490 (GRCm39) T424I probably benign Het
Gadd45gip1 T A 8: 85,559,128 (GRCm39) V70E probably damaging Het
Garem2 A G 5: 30,319,471 (GRCm39) H311R probably damaging Het
Gm32742 G C 9: 51,060,607 (GRCm39) H899D possibly damaging Het
Gm5148 C T 3: 37,768,989 (GRCm39) C77Y probably benign Het
Gm5460 A G 14: 33,758,393 (GRCm39) D141G possibly damaging Het
Kcnj8 T C 6: 142,512,118 (GRCm39) N163S probably damaging Het
Klri1 A T 6: 129,674,264 (GRCm39) *249R probably null Het
Kmt5b A G 19: 3,865,525 (GRCm39) D863G probably damaging Het
Ltbp2 G T 12: 84,832,750 (GRCm39) T1538K probably benign Het
Or51ah3 G A 7: 103,210,143 (GRCm39) G153D probably damaging Het
Or5b120 A G 19: 13,480,436 (GRCm39) H243R probably damaging Het
Pheta2 A T 15: 82,227,877 (GRCm39) E132V probably damaging Het
Pramel16 A G 4: 143,675,656 (GRCm39) L390P probably damaging Het
Ptchd3 A G 11: 121,721,741 (GRCm39) I205V probably benign Het
Rab8b G A 9: 66,758,641 (GRCm39) A152V probably damaging Het
Rasef T C 4: 73,658,625 (GRCm39) D343G possibly damaging Het
Sec1 G A 7: 45,328,009 (GRCm39) T346M probably benign Het
Sgk1 T A 10: 21,758,558 (GRCm39) N7K probably damaging Het
Slc39a12 A T 2: 14,394,321 (GRCm39) I64F possibly damaging Het
Spock3 A G 8: 63,798,764 (GRCm39) T259A probably damaging Het
Sypl1 A T 12: 33,016,463 (GRCm39) probably benign Het
Teddm2 G T 1: 153,726,767 (GRCm39) Q36K probably damaging Het
Tlr1 A G 5: 65,083,534 (GRCm39) S348P possibly damaging Het
Ttll12 A G 15: 83,466,559 (GRCm39) F336S probably damaging Het
Ttll8 G A 15: 88,798,818 (GRCm39) P639L probably benign Het
Usp24 T C 4: 106,244,681 (GRCm39) V1212A probably damaging Het
Vcan C A 13: 89,838,615 (GRCm39) G2310* probably null Het
Vmn2r104 A T 17: 20,262,097 (GRCm39) N344K probably damaging Het
Zfp281 A G 1: 136,553,643 (GRCm39) N207S probably benign Het
Zfp534 T A 4: 147,760,439 (GRCm39) M77L probably benign Het
Zfp819 G A 7: 43,267,203 (GRCm39) S562N probably benign Het
Zmym1 C T 4: 126,944,623 (GRCm39) C188Y 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
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
R9251:Rcan2 UTSW 17 44,328,701 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- GGGCAGTACAGGACAGTATC -3'
(R):5'- ATGAGAATAGACCGCCGTGC -3'

Sequencing Primer
(F):5'- GACAGTATCCATCCTGAGGAGTATC -3'
(R):5'- GCCGTGCGATATCCAATCACATTC -3'
Posted On 2022-02-07