Incidental Mutation 'R0944:Rcan1'
ID 82033
Institutional Source Beutler Lab
Gene Symbol Rcan1
Ensembl Gene ENSMUSG00000022951
Gene Name regulator of calcineurin 1
Synonyms ADAPT78, Dscr1, 2410048A02Rik, CSP1, MCIP1
MMRRC Submission 039083-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0944 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 92188839-92263057 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92190379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 187 (T187A)
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: T187A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023672
Gene: ENSMUSG00000022951
AA Change: T187A

DomainStartEndE-ValueType
Pfam:Calcipressin 20 192 1.2e-62 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000060005
AA Change: T240A
SMART Domains Protein: ENSMUSP00000060394
Gene: ENSMUSG00000022951
AA Change: T240A

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 unknown
Transcript: ENSMUST00000231410
AA Change: T107A
Predicted Effect unknown
Transcript: ENSMUST00000231813
AA Change: T48A
Predicted Effect unknown
Transcript: ENSMUST00000232197
AA Change: T107A
Predicted Effect unknown
Transcript: ENSMUST00000232239
AA Change: T187A
Meta Mutation Damage Score 0.4820 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.1%
  • 10x: 97.3%
  • 20x: 94.3%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110018I06Rik G A 12: 107,455,268 (GRCm39) R118K unknown Het
Abcc6 T A 7: 45,664,929 (GRCm39) I301F possibly damaging Het
Akap9 C A 5: 4,114,742 (GRCm39) probably null Het
Alg6 A G 4: 99,650,297 (GRCm39) I506V probably benign Het
B3gat1 C T 9: 26,668,237 (GRCm39) R276C probably damaging Het
Camk1 A G 6: 113,315,352 (GRCm39) Y105H probably damaging Het
Ccdc81 T C 7: 89,515,777 (GRCm39) N634S probably damaging Het
Clcn1 C A 6: 42,290,075 (GRCm39) Q837K probably benign Het
Clec16a A G 16: 10,506,510 (GRCm39) probably benign Het
Col22a1 T C 15: 71,753,511 (GRCm39) I130V probably benign Het
Coro2b T C 9: 62,335,263 (GRCm39) S308G probably benign Het
Cpxm1 A G 2: 130,239,423 (GRCm39) W2R probably damaging Het
Csmd3 T C 15: 47,475,227 (GRCm39) N3364S probably damaging Het
Dgkq A G 5: 108,804,331 (GRCm39) V131A probably damaging Het
Dnai1 A G 4: 41,629,997 (GRCm39) S469G probably benign Het
Efcab3 T G 11: 104,601,556 (GRCm39) probably null Het
Eml4 G A 17: 83,785,489 (GRCm39) E885K probably benign Het
Etfa A T 9: 55,396,122 (GRCm39) I148N probably damaging Het
Gpbar1 A G 1: 74,318,681 (GRCm39) D308G probably benign Het
Gprin3 T C 6: 59,330,900 (GRCm39) E469G possibly damaging Het
Igkv1-115 T C 6: 68,138,667 (GRCm39) V90A probably damaging Het
Ints2 A G 11: 86,135,289 (GRCm39) V375A possibly damaging Het
Mindy3 T C 2: 12,400,993 (GRCm39) M242V possibly damaging Het
Or11m3 A G 15: 98,395,565 (GRCm39) I71V probably benign Het
Or1n1b T C 2: 36,780,698 (GRCm39) H54R probably damaging Het
Or5t9 A C 2: 86,659,281 (GRCm39) I62L probably benign Het
P3h1 G A 4: 119,095,956 (GRCm39) E355K probably benign Het
Paxbp1 T C 16: 90,820,315 (GRCm39) T703A probably benign Het
Pcdh15 A T 10: 74,046,302 (GRCm39) Y193F probably damaging Het
Pdxdc1 A G 16: 13,656,233 (GRCm39) V613A probably damaging Het
Plekha5 T C 6: 140,515,922 (GRCm39) probably benign Het
Pmel A T 10: 128,551,126 (GRCm39) Q123L possibly damaging Het
Prl6a1 T C 13: 27,502,149 (GRCm39) probably benign Het
Rp1l1 A G 14: 64,269,681 (GRCm39) S1756G probably benign Het
Runx2 A T 17: 44,919,123 (GRCm39) M405K probably damaging Het
Serinc5 T C 13: 92,797,613 (GRCm39) Y39H probably damaging Het
Sgsm1 G A 5: 113,413,740 (GRCm39) T676I probably benign Het
Slc6a15 G C 10: 103,245,657 (GRCm39) V547L probably benign Het
Slk T C 19: 47,597,432 (GRCm39) I80T probably damaging Het
Spice1 A G 16: 44,205,124 (GRCm39) N810S probably benign Het
Spred2 A G 11: 19,951,104 (GRCm39) probably benign Het
Tbc1d4 C G 14: 101,716,656 (GRCm39) probably benign Het
Tdrd7 G A 4: 46,029,762 (GRCm39) V1032M probably benign Het
Tlr11 A G 14: 50,599,793 (GRCm39) N593S probably benign Het
Trpa1 T C 1: 14,982,585 (GRCm39) probably null Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp25 T C 16: 76,878,335 (GRCm39) probably benign Het
Vmn2r97 T A 17: 19,167,665 (GRCm39) S640T probably benign Het
Zc3h6 A G 2: 128,848,736 (GRCm39) Y321C probably damaging Het
Zfp329 T A 7: 12,545,395 (GRCm39) N43I probably benign Het
Other mutations in Rcan1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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'- TCAGTGAATGGCCCAAGACAGTCC -3'
(R):5'- GAGAGCAATTCTGCGGTGCAAATG -3'

Sequencing Primer
(F):5'- GACTCTCTTCTGAGCATCATGAAC -3'
(R):5'- CTCCATGCTCAGGGACAAG -3'
Posted On 2013-11-08