Incidental Mutation 'R6072:Rcan1'
ID 482555
Institutional Source Beutler Lab
Gene Symbol Rcan1
Ensembl Gene ENSMUSG00000022951
Gene Name regulator of calcineurin 1
Synonyms ADAPT78, Dscr1, 2410048A02Rik, CSP1, MCIP1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6072 (G1)
Quality Score 133.008
Status Not validated
Chromosome 16
Chromosomal Location 92188839-92263057 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92262815 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 51 (D51G)
Ref Sequence ENSEMBL: ENSMUSP00000060394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060005] [ENSMUST00000232197] [ENSMUST00000232239]
AlphaFold Q9JHG6
Predicted Effect probably benign
Transcript: ENSMUST00000060005
AA Change: D51G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000060394
Gene: ENSMUSG00000022951
AA Change: D51G

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 noncoding transcript
Transcript: ENSMUST00000231968
Predicted Effect probably benign
Transcript: ENSMUST00000232197
Predicted Effect probably benign
Transcript: ENSMUST00000232239
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,467,357 (GRCm39) M92K probably benign Het
Abca15 T A 7: 119,987,481 (GRCm39) C1256S probably damaging Het
Asic2 A G 11: 80,784,914 (GRCm39) S291P probably damaging Het
Asph A G 4: 9,643,533 (GRCm39) probably null Het
Ccdc57 T A 11: 120,792,901 (GRCm39) K284N probably damaging Het
Cfap210 A T 2: 69,602,402 (GRCm39) D336E probably benign Het
Dnm3 CAGCCTTCGTTGGGTG C 1: 161,838,637 (GRCm39) probably benign Het
Dop1a G A 9: 86,389,750 (GRCm39) S558N probably benign Het
F830045P16Rik T A 2: 129,314,614 (GRCm39) Q221L probably damaging Het
Gm10146 A G 10: 78,229,332 (GRCm39) noncoding transcript Het
Gys2 T G 6: 142,374,263 (GRCm39) D594A probably damaging Het
Irf9 A G 14: 55,843,284 (GRCm39) E114G probably damaging Het
Itpr2 T G 6: 146,248,609 (GRCm39) K1082T probably damaging Het
Krt14 C T 11: 100,097,992 (GRCm39) G97D unknown Het
Lmo7 A T 14: 102,166,772 (GRCm39) probably benign Het
Nckap5l A T 15: 99,324,535 (GRCm39) L656Q probably damaging Het
Ndufs8 T C 19: 3,959,275 (GRCm39) T129A probably damaging Het
Nosip G A 7: 44,726,072 (GRCm39) V187M possibly damaging Het
Or4l1 A T 14: 50,166,606 (GRCm39) Y132N probably damaging Het
Or7g18 G A 9: 18,786,718 (GRCm39) V29I probably benign Het
Phf3 A C 1: 30,869,769 (GRCm39) N426K probably benign Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Pphln1-ps1 T C 16: 13,495,353 (GRCm39) S151P probably damaging Het
Ptpru A G 4: 131,503,539 (GRCm39) S1164P probably damaging Het
Rem1 A G 2: 152,476,437 (GRCm39) T232A probably benign Het
Slc1a3 T A 15: 8,738,052 (GRCm39) I59F probably damaging Het
Slc23a4 T C 6: 34,925,357 (GRCm39) K491E probably benign Het
Slc6a5 T A 7: 49,561,943 (GRCm39) D158E probably damaging Het
Smarca4 A G 9: 21,611,417 (GRCm39) N1510S probably damaging Het
Taf1d T C 9: 15,222,856 (GRCm39) S241P probably benign Het
Thada T C 17: 84,499,434 (GRCm39) D1921G possibly damaging Het
Tmem147 A T 7: 30,427,445 (GRCm39) M99K possibly damaging Het
Tulp1 T C 17: 28,582,758 (GRCm39) E130G possibly damaging Het
Tyw1 T C 5: 130,296,752 (GRCm39) V123A possibly damaging Het
Wdr75 T C 1: 45,838,211 (GRCm39) V40A probably damaging Het
Zfp683 T C 4: 133,783,057 (GRCm39) Y174H probably benign 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
R2340:Rcan1 UTSW 16 92,194,240 (GRCm39) missense probably damaging 1.00
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
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'- TCGTCTCCAGTGTCTGAGAC -3'
(R):5'- TAAAGGGAACGTTCTTGGGCTC -3'

Sequencing Primer
(F):5'- AGTGTCTGAGACCCCTGGAG -3'
(R):5'- AGAGCTACGATTCGAGGCC -3'
Posted On 2017-07-14