Incidental Mutation 'R3907:Rcan1'
ID 359714
Institutional Source Beutler Lab
Gene Symbol Rcan1
Ensembl Gene ENSMUSG00000022951
Gene Name regulator of calcineurin 1
Synonyms MCIP1, 2410048A02Rik, ADAPT78, Dscr1, CSP1
MMRRC Submission 040908-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3907 (G1)
Quality Score 43
Status Validated
Chromosome 16
Chromosomal Location 92391953-92470867 bp(-) (GRCm38)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to G at 92466029 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000156053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060005] [ENSMUST00000232197] [ENSMUST00000232239]
AlphaFold Q9JHG6
Predicted Effect unknown
Transcript: ENSMUST00000060005
AA Change: V17A
SMART Domains Protein: ENSMUSP00000060394
Gene: ENSMUSG00000022951
AA Change: V17A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
Validation Efficiency 97% (56/58)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik C T 2: 130,736,576 (GRCm38) A663T probably damaging Het
Adamts3 C A 5: 89,861,355 (GRCm38) G150C probably damaging Het
Ampd3 A G 7: 110,793,670 (GRCm38) D215G possibly damaging Het
Ank2 A G 3: 127,016,898 (GRCm38) L513P probably damaging Het
Apba1 T C 19: 23,937,506 (GRCm38) I690T probably damaging Het
Arid1a T C 4: 133,692,912 (GRCm38) probably benign Het
Arsi G A 18: 60,916,651 (GRCm38) G202E probably benign Het
Asns C T 6: 7,682,270 (GRCm38) probably null Het
Aspg T A 12: 112,112,259 (GRCm38) Y57* probably null Het
Asph T C 4: 9,474,934 (GRCm38) K680R probably benign Het
Atp2b4 A T 1: 133,738,586 (GRCm38) S243T probably damaging Het
Cacna1s T A 1: 136,084,269 (GRCm38) M483K probably damaging Het
Car4 G A 11: 84,964,357 (GRCm38) V141M probably damaging Het
Cct4 A G 11: 23,001,560 (GRCm38) I376V probably benign Het
Chrm4 C T 2: 91,927,739 (GRCm38) A164V probably damaging Het
Csf3r A T 4: 126,034,447 (GRCm38) D291V probably benign Het
Dcaf6 A T 1: 165,424,380 (GRCm38) C58* probably null Het
Ddi2 T C 4: 141,684,281 (GRCm38) D440G probably benign Het
Defb4 A T 8: 19,201,261 (GRCm38) Q48L possibly damaging Het
Duox2 C T 2: 122,283,060 (GRCm38) probably null Het
E130308A19Rik C T 4: 59,752,393 (GRCm38) T502I probably benign Het
Ephb1 A G 9: 102,001,726 (GRCm38) C522R probably benign Het
Fam76a T C 4: 132,916,121 (GRCm38) K101E probably damaging Het
Fat1 G C 8: 45,023,035 (GRCm38) R1706T probably benign Het
Fn1 C T 1: 71,607,913 (GRCm38) G1482R probably damaging Het
Gm10110 T C 14: 89,898,147 (GRCm38) noncoding transcript Het
Gphn T A 12: 78,493,942 (GRCm38) probably benign Het
Hars A T 18: 36,782,716 (GRCm38) D48E probably benign Het
Hmgcll1 G A 9: 76,072,661 (GRCm38) R111H probably benign Het
Ighv3-4 A G 12: 114,253,918 (GRCm38) S18P probably damaging Het
Iws1 G A 18: 32,079,920 (GRCm38) E134K possibly damaging Het
Kcnj4 G T 15: 79,485,745 (GRCm38) H11Q probably benign Het
Krt16 A G 11: 100,247,163 (GRCm38) V329A possibly damaging Het
Loxhd1 A T 18: 77,408,768 (GRCm38) M1575L possibly damaging Het
Mapkapk2 A T 1: 131,056,914 (GRCm38) S234T probably damaging Het
Mum1 T C 10: 80,238,316 (GRCm38) V401A probably damaging Het
Mxd1 G T 6: 86,650,960 (GRCm38) Q199K probably benign Het
Nlrp5 T A 7: 23,433,646 (GRCm38) D905E possibly damaging Het
Olfr1222 A C 2: 89,125,583 (GRCm38) Y49* probably null Het
Olfr5 A T 7: 6,480,679 (GRCm38) V159D probably damaging Het
Otoa A T 7: 121,125,565 (GRCm38) Q489L probably damaging Het
Pced1b T C 15: 97,384,550 (GRCm38) S157P probably damaging Het
Ppp1r16b T C 2: 158,761,490 (GRCm38) I345T probably benign Het
Prrt4 G T 6: 29,177,174 (GRCm38) L199M probably damaging Het
Ptpn6 T C 6: 124,725,276 (GRCm38) D347G possibly damaging Het
Rif1 C T 2: 52,112,545 (GRCm38) L2004F probably benign Het
Rnf185 A G 11: 3,426,681 (GRCm38) probably benign Het
Shank2 C T 7: 144,409,576 (GRCm38) P307L probably damaging Het
Slc19a3 G A 1: 83,014,813 (GRCm38) R396C possibly damaging Het
Stn1 T C 19: 47,507,823 (GRCm38) D321G probably damaging Het
Taar7a T C 10: 23,992,559 (GRCm38) Y308C probably benign Het
Tespa1 T C 10: 130,356,797 (GRCm38) probably benign Het
Tmcc2 T C 1: 132,360,638 (GRCm38) D359G probably damaging Het
Trhde C T 10: 114,800,696 (GRCm38) G202E possibly damaging Het
Trip12 T C 1: 84,732,106 (GRCm38) T469A possibly damaging Het
Trip4 A G 9: 65,833,426 (GRCm38) I533T probably benign Het
Tsc22d1 T C 14: 76,416,543 (GRCm38) I154T probably damaging Het
Ttn C A 2: 76,903,342 (GRCm38) probably benign Het
Ugt8a T C 3: 125,914,982 (GRCm38) T160A possibly damaging Het
Usp54 A T 14: 20,586,113 (GRCm38) S288T probably damaging Het
Utrn C T 10: 12,710,182 (GRCm38) probably benign Het
Other mutations in Rcan1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0944:Rcan1 UTSW 16 92,393,491 (GRCm38) missense probably damaging 1.00
R0973:Rcan1 UTSW 16 92,393,520 (GRCm38) missense probably benign 0.04
R2303:Rcan1 UTSW 16 92,393,596 (GRCm38) missense possibly damaging 0.80
R2340:Rcan1 UTSW 16 92,397,352 (GRCm38) missense probably damaging 1.00
R4352:Rcan1 UTSW 16 92,393,496 (GRCm38) missense probably benign 0.11
R4857:Rcan1 UTSW 16 92,465,906 (GRCm38) missense possibly damaging 0.77
R6072:Rcan1 UTSW 16 92,465,927 (GRCm38) missense probably benign 0.01
R6991:Rcan1 UTSW 16 92,397,363 (GRCm38) missense probably benign 0.20
R9090:Rcan1 UTSW 16 92,465,853 (GRCm38) missense
R9271:Rcan1 UTSW 16 92,465,853 (GRCm38) missense
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-12-08