Incidental Mutation 'R2340:Rcan1'
ID 246728
Institutional Source Beutler Lab
Gene Symbol Rcan1
Ensembl Gene ENSMUSG00000022951
Gene Name regulator of calcineurin 1
Synonyms ADAPT78, Dscr1, 2410048A02Rik, CSP1, MCIP1
MMRRC Submission 040326-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2340 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 92188839-92263057 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92194240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 58 (F58L)
Ref Sequence ENSEMBL: ENSMUSP00000023672 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023672] [ENSMUST00000060005] [ENSMUST00000231410] [ENSMUST00000231813] [ENSMUST00000232197] [ENSMUST00000232239]
AlphaFold Q9JHG6
Predicted Effect probably damaging
Transcript: ENSMUST00000023672
AA Change: F58L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023672
Gene: ENSMUSG00000022951
AA Change: F58L

DomainStartEndE-ValueType
Pfam:Calcipressin 20 192 1.2e-62 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000060005
AA Change: F111L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000060394
Gene: ENSMUSG00000022951
AA Change: F111L

DomainStartEndE-ValueType
low complexity region 12 25 N/A INTRINSIC
low complexity region 39 46 N/A INTRINSIC
Pfam:Calcipressin 73 245 3.8e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231410
Predicted Effect probably benign
Transcript: ENSMUST00000231813
Predicted Effect probably benign
Transcript: ENSMUST00000232197
Predicted Effect probably damaging
Transcript: ENSMUST00000232239
AA Change: F58L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232457
Meta Mutation Damage Score 0.9114 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 97% (37/38)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with calcineurin A and inhibits calcineurin-dependent signaling pathways, possibly affecting central nervous system development. This gene is located in the minimal candidate region for the Down syndrome phenotype, and is overexpressed in the brain of Down syndrome fetuses. Chronic overexpression of this gene may lead to neurofibrillary tangles such as those associated with Alzheimer disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
PHENOTYPE: Unstressed homozygous mutant mice show no overt phenotype other than a slight reduction in heart size and an impaired T helper 1 response. Stress-induced cardiac hypertrophy, however, is attenuated in mutant mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abca13 A T 11: 9,349,165 (GRCm39) I3580F probably damaging Het
B3glct A G 5: 149,668,905 (GRCm39) K280E probably benign Het
Chd6 TG T 2: 160,807,679 (GRCm39) probably null Het
Clu T C 14: 66,218,358 (GRCm39) V406A probably damaging Het
D930020B18Rik A G 10: 121,490,741 (GRCm39) K114E probably damaging Het
Dsg1c T A 18: 20,400,945 (GRCm39) D149E probably damaging Het
Entrep2 A G 7: 64,425,565 (GRCm39) S176P probably benign Het
Fat2 A T 11: 55,160,922 (GRCm39) D3269E possibly damaging Het
Frmd4a A G 2: 4,591,187 (GRCm39) D69G probably damaging Het
Hacd1 G T 2: 14,040,698 (GRCm39) P186T probably damaging Het
Hlx G T 1: 184,464,184 (GRCm39) A52D probably damaging Het
Kif2c A G 4: 117,027,038 (GRCm39) V320A probably damaging Het
Lypd2 T A 15: 74,606,103 (GRCm39) I12L probably benign Het
Midn G T 10: 79,985,946 (GRCm39) R12L possibly damaging Het
Or2b6 T C 13: 21,822,757 (GRCm39) K312R probably benign Het
Or8g34 A G 9: 39,373,105 (GRCm39) Y126C probably damaging Het
Or9q2 A G 19: 13,772,135 (GRCm39) V280A probably benign Het
Pkhd1 A T 1: 20,271,079 (GRCm39) V3158E probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Rad51d T C 11: 82,772,647 (GRCm39) D206G probably damaging Het
Rnf145 T C 11: 44,422,205 (GRCm39) I96T probably benign Het
Rnf216 A T 5: 143,066,089 (GRCm39) F500I probably damaging Het
Rph3al T C 11: 75,724,258 (GRCm39) T282A probably benign Het
Serpina11 T C 12: 103,951,002 (GRCm39) R240G probably benign Het
Slc12a2 T A 18: 58,033,122 (GRCm39) I400N probably benign Het
Slco1a4 C A 6: 141,787,103 (GRCm39) C28F probably benign Het
Sned1 T A 1: 93,184,174 (GRCm39) I134N probably damaging Het
Spock3 T A 8: 63,798,747 (GRCm39) M253K probably damaging Het
Tmem184b T A 15: 79,262,732 (GRCm39) M42L probably benign Het
Tnnt1 G A 7: 4,516,615 (GRCm39) probably benign Het
Ttll5 T A 12: 85,938,922 (GRCm39) S407T probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Zfat T C 15: 67,973,390 (GRCm39) E1117G probably damaging Het
Zfp606 A G 7: 12,227,016 (GRCm39) E321G possibly damaging Het
Other mutations in Rcan1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0944:Rcan1 UTSW 16 92,190,379 (GRCm39) missense probably damaging 1.00
R0973:Rcan1 UTSW 16 92,190,408 (GRCm39) missense probably benign 0.04
R2303:Rcan1 UTSW 16 92,190,484 (GRCm39) missense possibly damaging 0.80
R3907:Rcan1 UTSW 16 92,262,917 (GRCm39) utr 5 prime probably benign
R4352:Rcan1 UTSW 16 92,190,384 (GRCm39) missense probably benign 0.11
R4857:Rcan1 UTSW 16 92,262,794 (GRCm39) missense possibly damaging 0.77
R6072:Rcan1 UTSW 16 92,262,815 (GRCm39) missense probably benign 0.01
R6991:Rcan1 UTSW 16 92,194,251 (GRCm39) missense probably benign 0.20
R9090:Rcan1 UTSW 16 92,262,741 (GRCm39) missense
R9271:Rcan1 UTSW 16 92,262,741 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- AGATCCCTTTACACAGCAGGGAG -3'
(R):5'- ACAGACATTCAGCGTCCCTG -3'

Sequencing Primer
(F):5'- GAACTCAAGGTTGGAATCCTGTC -3'
(R):5'- GTCCCTGAAGTGACCGATC -3'
Posted On 2014-10-30