Incidental Mutation 'R9251:Rcan2'
ID 701571
Institutional Source Beutler Lab
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: 0.060) question?
Stock # R9251 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 44112243-44350407 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 44328701 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 90 (T90M)
Ref Sequence ENSEMBL: ENSMUSP00000039473 (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: T44M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000048013
Gene: ENSMUSG00000039601
AA Change: T44M

DomainStartEndE-ValueType
Pfam:Calcipressin 20 191 2.1e-64 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000044895
AA Change: T90M

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039473
Gene: ENSMUSG00000039601
AA Change: T90M

DomainStartEndE-ValueType
Pfam:Calcipressin 66 237 1.3e-66 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000177857
AA Change: T44M

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137211
Gene: ENSMUSG00000039601
AA Change: T44M

DomainStartEndE-ValueType
Pfam:Calcipressin 20 191 2.1e-64 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000228972
AA Change: T90M

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000229240
AA Change: T44M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229744
AA Change: T90M

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Meta Mutation Damage Score 0.7032 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (59/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap31 G T 16: 38,423,218 (GRCm39) N949K probably benign Het
Arv1 T A 8: 125,452,062 (GRCm39) I76N probably damaging Het
Cfap44 G A 16: 44,229,276 (GRCm39) A189T probably damaging Het
Ch25h T C 19: 34,451,769 (GRCm39) Y253C probably damaging Het
Cnot11 T C 1: 39,581,587 (GRCm39) M376T probably damaging Het
Cnot7 T C 8: 40,964,622 (GRCm39) probably benign Het
Dnah17 G A 11: 118,012,618 (GRCm39) S481F probably benign Het
Dnah2 C T 11: 69,406,619 (GRCm39) R541Q probably damaging Het
Dnah7a C T 1: 53,621,671 (GRCm39) M1151I probably damaging Het
Dpf2 T C 19: 5,957,166 (GRCm39) D19G probably damaging Het
Eefsec A T 6: 88,332,574 (GRCm39) M212K probably damaging Het
Elp6 G A 9: 110,134,666 (GRCm39) V12I unknown Het
Enox1 G A 14: 77,852,997 (GRCm39) probably null Het
Epha1 G T 6: 42,341,777 (GRCm39) N424K probably damaging Het
Fam171a1 T C 2: 3,226,525 (GRCm39) S553P probably benign Het
Fbxw21 A G 9: 108,974,687 (GRCm39) S278P probably damaging Het
Gm45861 T C 8: 28,032,589 (GRCm39) probably null Het
Gm4846 T A 1: 166,311,307 (GRCm39) R517S probably benign Het
Gnrhr A G 5: 86,345,221 (GRCm39) L155P possibly damaging Het
Igfn1 C T 1: 135,894,409 (GRCm39) probably benign Het
Ik T A 18: 36,880,495 (GRCm39) probably null Het
Insrr A T 3: 87,717,391 (GRCm39) Q763L probably benign Het
Klf5 G T 14: 99,538,824 (GRCm39) C79F possibly damaging Het
Lrrcc1 A T 3: 14,623,454 (GRCm39) R760S probably damaging Het
Map3k7 T A 4: 32,002,080 (GRCm39) probably benign Het
Mapkbp1 C T 2: 119,853,671 (GRCm39) A1159V probably benign Het
Mgst3 C T 1: 167,205,860 (GRCm39) probably null Het
Mtch2 T A 2: 90,679,980 (GRCm39) F71I probably damaging Het
Myo1e A G 9: 70,276,076 (GRCm39) I764V probably benign Het
Myo3b T A 2: 70,088,425 (GRCm39) L896* probably null Het
Ndufs5 T G 4: 123,606,628 (GRCm39) E103A probably benign Het
Nfe2l1 G A 11: 96,710,421 (GRCm39) P603S probably damaging Het
Or6c211 T A 10: 129,505,980 (GRCm39) N136I possibly damaging Het
Or8g34 A T 9: 39,373,668 (GRCm39) M311L probably benign Het
Piezo1 T C 8: 123,219,354 (GRCm39) N1093S Het
Pitpnb G A 5: 111,533,390 (GRCm39) R258H probably benign Het
Pla2g4d T C 2: 120,099,378 (GRCm39) E708G possibly damaging Het
Plppr4 T A 3: 117,115,608 (GRCm39) T750S probably benign Het
Prrg4 T G 2: 104,675,399 (GRCm39) E68A probably damaging Het
Rlbp1 T C 7: 79,027,093 (GRCm39) E189G probably damaging Het
Satb1 A G 17: 52,112,293 (GRCm39) F107S probably damaging Het
Sdc3 A T 4: 130,548,513 (GRCm39) probably benign Het
Slc22a3 A T 17: 12,726,093 (GRCm39) V40D probably damaging Het
Slc35d1 A G 4: 103,048,027 (GRCm39) probably null Het
Slfn1 T C 11: 83,012,121 (GRCm39) F79S probably damaging Het
Snrpg G T 6: 86,353,557 (GRCm39) V46L probably benign Het
Tbl1xr1 G A 3: 22,264,569 (GRCm39) C508Y probably benign Het
Thada A T 17: 84,538,564 (GRCm39) D1481E probably benign Het
Tnfsf8 A G 4: 63,779,217 (GRCm39) V27A probably benign Het
Tns1 T C 1: 74,030,855 (GRCm39) H300R probably damaging Het
Ttc13 C A 8: 125,401,992 (GRCm39) G589V probably benign Het
Ttc28 A G 5: 111,040,698 (GRCm39) I29V possibly damaging Het
Tubb4a T A 17: 57,387,778 (GRCm39) N416I possibly damaging Het
Ubr4 T A 4: 139,177,636 (GRCm39) I1884N Het
Usp16 A G 16: 87,266,640 (GRCm39) K175E probably benign Het
Usp24 A G 4: 106,217,715 (GRCm39) I479M probably benign Het
Utrn T C 10: 12,512,531 (GRCm39) T2313A probably benign Het
Ythdc2 T C 18: 44,974,442 (GRCm39) V368A probably benign Het
Zfp628 T C 7: 4,923,880 (GRCm39) S701P probably 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
R9199:Rcan2 UTSW 17 44,264,423 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GAAGCTTATGTTTCTAGCCACTG -3'
(R):5'- TGCATGAATGTATTGCCCACAC -3'

Sequencing Primer
(F):5'- AGCCACTGTGCCTTCTGTTTTAAC -3'
(R):5'- TGTGAACCACCATGTGCATG -3'
Posted On 2022-03-25