Incidental Mutation 'IGL00430:Rcan2'
ID |
3848 |
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 # |
IGL00430
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
44112243-44350407 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44147275 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 38
(T38A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154835
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044895]
[ENSMUST00000228972]
[ENSMUST00000229744]
|
AlphaFold |
Q9JHG2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044895
AA Change: T38A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000039473 Gene: ENSMUSG00000039601 AA Change: T38A
Domain | Start | End | E-Value | Type |
Pfam:Calcipressin
|
66 |
237 |
1.3e-66 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228972
AA Change: T38A
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229744
AA Change: T38A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
G |
A |
19: 43,772,641 (GRCm39) |
S17N |
probably benign |
Het |
Atp2a1 |
C |
T |
7: 126,046,388 (GRCm39) |
W72* |
probably null |
Het |
Baz2b |
C |
A |
2: 59,743,139 (GRCm39) |
A1611S |
probably benign |
Het |
Cep290 |
A |
T |
10: 100,344,586 (GRCm39) |
I475L |
probably benign |
Het |
Cpsf4l |
C |
T |
11: 113,600,044 (GRCm39) |
|
probably benign |
Het |
Crispld2 |
A |
T |
8: 120,760,299 (GRCm39) |
R408S |
probably damaging |
Het |
Cyp3a25 |
A |
T |
5: 145,930,170 (GRCm39) |
M145K |
probably damaging |
Het |
Dexi |
A |
T |
16: 10,360,309 (GRCm39) |
D82E |
probably benign |
Het |
Epyc |
A |
T |
10: 97,517,009 (GRCm39) |
K282N |
probably benign |
Het |
Ercc6l2 |
G |
T |
13: 64,006,133 (GRCm39) |
V588F |
probably damaging |
Het |
Galnt14 |
C |
T |
17: 73,801,227 (GRCm39) |
V532I |
probably damaging |
Het |
Grk1 |
C |
A |
8: 13,463,128 (GRCm39) |
Y383* |
probably null |
Het |
Gtpbp1 |
G |
T |
15: 79,603,337 (GRCm39) |
G609W |
possibly damaging |
Het |
Hadha |
C |
T |
5: 30,325,145 (GRCm39) |
V682M |
possibly damaging |
Het |
Igdcc3 |
A |
C |
9: 65,089,301 (GRCm39) |
D499A |
probably damaging |
Het |
Kcna10 |
T |
G |
3: 107,102,044 (GRCm39) |
V225G |
probably damaging |
Het |
Kcnh4 |
T |
C |
11: 100,648,480 (GRCm39) |
T75A |
possibly damaging |
Het |
Lama4 |
A |
G |
10: 38,921,700 (GRCm39) |
E407G |
possibly damaging |
Het |
Mrpl13 |
T |
A |
15: 55,403,597 (GRCm39) |
K105N |
probably damaging |
Het |
Pcdhb2 |
A |
T |
18: 37,429,516 (GRCm39) |
|
probably null |
Het |
Pck2 |
C |
T |
14: 55,781,401 (GRCm39) |
A209V |
probably benign |
Het |
Plce1 |
A |
G |
19: 38,713,461 (GRCm39) |
E1243G |
probably damaging |
Het |
Plekhh2 |
A |
T |
17: 84,829,203 (GRCm39) |
M25L |
probably benign |
Het |
Rasef |
G |
A |
4: 73,689,662 (GRCm39) |
Q117* |
probably null |
Het |
Rbm14 |
A |
G |
19: 4,861,454 (GRCm39) |
V28A |
probably damaging |
Het |
Rin1 |
A |
G |
19: 5,101,404 (GRCm39) |
N96S |
probably benign |
Het |
Rrp12 |
A |
G |
19: 41,865,773 (GRCm39) |
|
probably null |
Het |
Slco1a6 |
A |
T |
6: 142,047,377 (GRCm39) |
C404* |
probably null |
Het |
St6galnac3 |
T |
C |
3: 153,215,040 (GRCm39) |
N38S |
probably benign |
Het |
Top2b |
T |
A |
14: 16,422,692 (GRCm38) |
S1376R |
probably benign |
Het |
Trip11 |
T |
C |
12: 101,852,406 (GRCm39) |
I553V |
probably benign |
Het |
Trip12 |
T |
G |
1: 84,741,582 (GRCm39) |
H559P |
probably damaging |
Het |
Uggt2 |
A |
T |
14: 119,263,841 (GRCm39) |
L1063* |
probably null |
Het |
Zmym6 |
T |
A |
4: 126,995,742 (GRCm39) |
C269* |
probably null |
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 |
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 |
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 |
2012-04-20 |