Incidental Mutation 'IGL01397:Rcan2'
ID 79505
Institutional Source Australian Phenomics Network (link to record)
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: 0.064) question?
Stock # IGL01397
Quality Score
Status
Chromosome 17
Chromosomal Location 44112243-44350407 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44147359 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 66 (Q66K)
Ref Sequence ENSEMBL: ENSMUSP00000155082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044895] [ENSMUST00000228972] [ENSMUST00000229744]
AlphaFold Q9JHG2
Predicted Effect possibly damaging
Transcript: ENSMUST00000044895
AA Change: Q66K

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000039473
Gene: ENSMUSG00000039601
AA Change: Q66K

DomainStartEndE-ValueType
Pfam:Calcipressin 66 237 1.3e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228972
AA Change: Q66K

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect possibly damaging
Transcript: ENSMUST00000229744
AA Change: Q66K

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A C 2: 127,876,811 (GRCm39) T436P possibly damaging Het
Afap1 T A 5: 36,126,052 (GRCm39) V349E probably damaging Het
Arfgef1 C T 1: 10,229,796 (GRCm39) V1302I probably benign Het
Atp11a T A 8: 12,862,321 (GRCm39) W58R probably damaging Het
Brpf3 A T 17: 29,036,606 (GRCm39) K670N probably benign Het
Cd4 G A 6: 124,856,341 (GRCm39) T50I probably benign Het
Cenpp T C 13: 49,794,759 (GRCm39) D136G probably damaging Het
Cep85 T C 4: 133,883,517 (GRCm39) E124G probably damaging Het
Crybb3 T C 5: 113,227,701 (GRCm39) E40G probably damaging Het
Dennd2d G T 3: 106,394,365 (GRCm39) probably null Het
Dhx34 A G 7: 15,944,468 (GRCm39) L582P probably damaging Het
Dst A G 1: 34,296,825 (GRCm39) K5738R probably damaging Het
Eif4g1 T A 16: 20,498,425 (GRCm39) L328Q probably damaging Het
Eya4 T C 10: 23,015,897 (GRCm39) K357E probably benign Het
F8 A G X: 74,423,145 (GRCm39) S25P probably benign Het
Fgd2 A G 17: 29,586,949 (GRCm39) E293G probably damaging Het
Foxi1 T A 11: 34,157,599 (GRCm39) Q142L probably damaging Het
Gfm1 A G 3: 67,350,991 (GRCm39) E316G probably benign Het
Glb1l3 C T 9: 26,736,491 (GRCm39) D524N probably benign Het
Heatr5a A T 12: 51,941,152 (GRCm39) V1366D possibly damaging Het
Idh1 T C 1: 65,207,754 (GRCm39) T142A possibly damaging Het
Lamc1 C A 1: 153,126,880 (GRCm39) G422V probably damaging Het
Lars1 A T 18: 42,361,094 (GRCm39) H691Q probably damaging Het
Ltbp2 T C 12: 84,837,042 (GRCm39) Y1259C probably damaging Het
Muc19 T A 15: 91,778,498 (GRCm39) noncoding transcript Het
Nphs1 A G 7: 30,186,089 (GRCm39) D1240G probably benign Het
Or3a1b T A 11: 74,012,590 (GRCm39) N158K probably damaging Het
Or5w1 A T 2: 87,487,249 (GRCm39) N5K probably damaging Het
Pabir2 G A X: 52,349,088 (GRCm39) T121I probably damaging Het
Parp14 T C 16: 35,679,098 (GRCm39) N290S probably benign Het
Pex5l G A 3: 33,006,746 (GRCm39) T541I probably damaging Het
Plch1 A C 3: 63,639,150 (GRCm39) probably null Het
Ppp4r3b C T 11: 29,163,594 (GRCm39) A722V probably benign Het
Ptges3 T C 10: 127,906,069 (GRCm39) S85P probably benign Het
R3hdm2 C T 10: 127,294,719 (GRCm39) R201W probably damaging Het
Skint4 A G 4: 111,977,207 (GRCm39) N199S possibly damaging Het
Smc4 A G 3: 68,938,877 (GRCm39) T951A probably benign Het
Smg1 A T 7: 117,762,444 (GRCm39) probably benign Het
Snx30 T C 4: 59,894,526 (GRCm39) V368A probably benign Het
Spata31d1a C T 13: 59,849,552 (GRCm39) A859T probably damaging Het
Tg G A 15: 66,567,941 (GRCm39) probably benign Het
Tmem132b T C 5: 125,775,792 (GRCm39) V422A probably benign Het
Tnxb T C 17: 34,933,647 (GRCm39) S2356P probably damaging Het
Vmn1r122 A G 7: 20,867,707 (GRCm39) V116A possibly damaging Het
Washc2 A G 6: 116,224,959 (GRCm39) D683G probably benign Het
Wdr35 C A 12: 9,058,550 (GRCm39) T580K probably benign Het
Wwc2 T A 8: 48,321,311 (GRCm39) N601I unknown 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
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
R9251:Rcan2 UTSW 17 44,328,701 (GRCm39) missense possibly damaging 0.94
Posted On 2013-11-05