Incidental Mutation 'IGL01121:Rcan2'
ID |
53091 |
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)
|
Stock # |
IGL01121
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
44112243-44350407 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44328775 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 69
(I69L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155555
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044792]
[ENSMUST00000044895]
[ENSMUST00000177857]
[ENSMUST00000228972]
[ENSMUST00000229240]
[ENSMUST00000229744]
|
AlphaFold |
Q9JHG2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044792
AA Change: I69L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000048013 Gene: ENSMUSG00000039601 AA Change: I69L
Domain | Start | End | E-Value | Type |
Pfam:Calcipressin
|
20 |
191 |
2.1e-64 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044895
AA Change: I115L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000039473 Gene: ENSMUSG00000039601 AA Change: I115L
Domain | Start | End | E-Value | Type |
Pfam:Calcipressin
|
66 |
237 |
1.3e-66 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177857
AA Change: I69L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000137211 Gene: ENSMUSG00000039601 AA Change: I69L
Domain | Start | End | E-Value | Type |
Pfam:Calcipressin
|
20 |
191 |
2.1e-64 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228972
AA Change: I115L
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229240
AA Change: I69L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000229744
AA Change: I115L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700046A07Rik |
G |
A |
18: 62,888,219 (GRCm39) |
|
noncoding transcript |
Het |
4930432E11Rik |
A |
T |
7: 29,273,426 (GRCm39) |
|
noncoding transcript |
Het |
Alg3 |
T |
C |
16: 20,429,397 (GRCm39) |
E31G |
probably damaging |
Het |
Arhgap29 |
A |
G |
3: 121,803,512 (GRCm39) |
E764G |
probably damaging |
Het |
Atp5mf |
C |
A |
5: 145,121,378 (GRCm39) |
V68L |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,938,033 (GRCm39) |
I2645K |
probably benign |
Het |
Capn11 |
A |
G |
17: 45,950,058 (GRCm39) |
S369P |
probably benign |
Het |
Car4 |
A |
T |
11: 84,855,172 (GRCm39) |
|
probably null |
Het |
Ccdc185 |
C |
T |
1: 182,576,222 (GRCm39) |
V156I |
probably benign |
Het |
Cpsf2 |
G |
T |
12: 101,954,965 (GRCm39) |
E245D |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,014,430 (GRCm39) |
D2019G |
probably benign |
Het |
Dscc1 |
A |
G |
15: 54,945,721 (GRCm39) |
|
probably benign |
Het |
Dzip3 |
T |
C |
16: 48,765,244 (GRCm39) |
D490G |
probably benign |
Het |
E2f8 |
G |
A |
7: 48,517,569 (GRCm39) |
Q745* |
probably null |
Het |
Fat3 |
T |
A |
9: 15,909,697 (GRCm39) |
T2102S |
probably benign |
Het |
Fgf7 |
C |
T |
2: 125,930,152 (GRCm39) |
|
probably benign |
Het |
Fstl4 |
T |
C |
11: 52,705,464 (GRCm39) |
F47L |
probably benign |
Het |
Gm15097 |
A |
T |
X: 148,587,324 (GRCm39) |
R129S |
possibly damaging |
Het |
Gm4297 |
C |
T |
X: 24,418,854 (GRCm39) |
D200N |
probably benign |
Het |
Itgb5 |
G |
T |
16: 33,740,359 (GRCm39) |
D490Y |
probably benign |
Het |
Kansl1 |
A |
G |
11: 104,226,422 (GRCm39) |
S912P |
probably benign |
Het |
Kcnq3 |
A |
T |
15: 65,877,826 (GRCm39) |
|
probably benign |
Het |
Kctd6 |
A |
G |
14: 8,222,656 (GRCm38) |
H166R |
possibly damaging |
Het |
Kel |
T |
C |
6: 41,679,343 (GRCm39) |
D140G |
probably benign |
Het |
Lrif1 |
C |
A |
3: 106,642,980 (GRCm39) |
S177* |
probably null |
Het |
Lrp1 |
A |
T |
10: 127,419,722 (GRCm39) |
C962* |
probably null |
Het |
Lypd5 |
A |
T |
7: 24,050,976 (GRCm39) |
Y29F |
probably benign |
Het |
Mmrn1 |
A |
G |
6: 60,952,928 (GRCm39) |
D403G |
possibly damaging |
Het |
Nhsl1 |
T |
G |
10: 18,387,458 (GRCm39) |
V244G |
probably damaging |
Het |
Or6c35 |
T |
C |
10: 129,168,804 (GRCm39) |
I18T |
probably benign |
Het |
Ptprd |
A |
T |
4: 75,872,438 (GRCm39) |
|
probably benign |
Het |
Rprd2 |
A |
G |
3: 95,683,862 (GRCm39) |
L373P |
probably damaging |
Het |
Slc10a4 |
T |
C |
5: 73,164,929 (GRCm39) |
C174R |
probably damaging |
Het |
Tas2r134 |
C |
T |
2: 51,518,001 (GRCm39) |
T160I |
probably damaging |
Het |
Tbc1d19 |
T |
A |
5: 54,054,404 (GRCm39) |
L464* |
probably null |
Het |
Tmem45a2 |
C |
T |
16: 56,861,153 (GRCm39) |
D225N |
possibly damaging |
Het |
Unc79 |
G |
A |
12: 103,131,890 (GRCm39) |
C2139Y |
probably damaging |
Het |
Vmn2r101 |
G |
T |
17: 19,809,936 (GRCm39) |
G241C |
probably damaging |
Het |
Vmn2r91 |
T |
C |
17: 18,356,766 (GRCm39) |
V811A |
possibly damaging |
Het |
Wdr11 |
T |
C |
7: 129,229,746 (GRCm39) |
Y844H |
probably benign |
Het |
Wdr70 |
T |
C |
15: 7,902,655 (GRCm39) |
K656E |
possibly damaging |
Het |
Zfp579 |
C |
A |
7: 4,996,246 (GRCm39) |
C555F |
possibly damaging |
Het |
|
Other mutations in Rcan2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
IGL01397:Rcan2
|
APN |
17 |
44,147,359 (GRCm39) |
missense |
possibly damaging |
0.56 |
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 |
2013-06-21 |