Incidental Mutation 'R5555:Rcan2'
| ID |
435357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcan2
|
| Ensembl Gene |
ENSMUSG00000039601 |
| Gene Name |
regulator of calcineurin 2 |
| Synonyms |
ZAKI-4, MCIP2, Csp2, Dscr1l1 |
| MMRRC Submission |
043112-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R5555 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
44112243-44350407 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44347921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 210
(V210E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044792]
[ENSMUST00000044895]
[ENSMUST00000177857]
[ENSMUST00000228972]
[ENSMUST00000229744]
[ENSMUST00000229939]
|
| AlphaFold |
Q9JHG2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044792
AA Change: V164E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048013
Gene: ENSMUSG00000039601
AA Change: V164E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calcipressin
|
20 |
191 |
2.1e-64 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044895
AA Change: V210E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039473
Gene: ENSMUSG00000039601
AA Change: V210E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calcipressin
|
66 |
237 |
1.3e-66 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177857
AA Change: V164E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137211
Gene: ENSMUSG00000039601
AA Change: V164E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calcipressin
|
20 |
191 |
2.1e-64 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228972
AA Change: V210E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229744
AA Change: V210E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229939
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.4%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg7 |
T |
C |
6: 114,679,014 (GRCm39) |
V366A |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,581,702 (GRCm39) |
V192E |
probably damaging |
Het |
| Chil6 |
C |
T |
3: 106,297,268 (GRCm39) |
S291N |
possibly damaging |
Het |
| D7Ertd443e |
T |
C |
7: 133,951,320 (GRCm39) |
T118A |
probably benign |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,012,776 (GRCm39) |
T1837S |
probably damaging |
Het |
| Elapor2 |
T |
A |
5: 9,472,296 (GRCm39) |
|
probably null |
Het |
| Ext1 |
A |
G |
15: 52,951,539 (GRCm39) |
V515A |
probably damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,890,109 (GRCm39) |
E272G |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,825,236 (GRCm39) |
H1475Q |
probably benign |
Het |
| Grid1 |
T |
C |
14: 35,242,662 (GRCm39) |
S672P |
possibly damaging |
Het |
| Gtpbp4 |
A |
G |
13: 9,029,463 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
A |
T |
12: 110,659,168 (GRCm39) |
V543E |
probably damaging |
Het |
| Irf5 |
T |
C |
6: 29,531,145 (GRCm39) |
S4P |
probably benign |
Het |
| Kif2b |
G |
T |
11: 91,466,286 (GRCm39) |
Q666K |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,414,110 (GRCm39) |
H762L |
probably benign |
Het |
| Map1s |
C |
T |
8: 71,369,751 (GRCm39) |
T941M |
probably damaging |
Het |
| Mrgprb1 |
T |
A |
7: 48,097,523 (GRCm39) |
I130F |
probably benign |
Het |
| Nbeal1 |
T |
G |
1: 60,276,311 (GRCm39) |
V684G |
possibly damaging |
Het |
| Ngly1 |
C |
T |
14: 16,270,508 (GRCm38) |
Q173* |
probably null |
Het |
| Plcb3 |
A |
T |
19: 6,943,587 (GRCm39) |
M104K |
probably benign |
Het |
| Plcg2 |
T |
A |
8: 118,339,734 (GRCm39) |
Y1048* |
probably null |
Het |
| Ptprf |
T |
C |
4: 118,082,121 (GRCm39) |
Y1039C |
probably damaging |
Het |
| Rab38 |
A |
G |
7: 88,079,695 (GRCm39) |
Y29C |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,304,008 (GRCm39) |
Q447L |
probably benign |
Het |
| Scel |
G |
A |
14: 103,839,642 (GRCm39) |
R495K |
probably benign |
Het |
| Scn11a |
G |
T |
9: 119,584,304 (GRCm39) |
P1437Q |
probably damaging |
Het |
| Sim2 |
A |
G |
16: 93,910,315 (GRCm39) |
D239G |
probably damaging |
Het |
| Skap2 |
A |
G |
6: 51,836,998 (GRCm39) |
Y356H |
probably damaging |
Het |
| Skint11 |
A |
G |
4: 114,051,798 (GRCm39) |
T49A |
probably benign |
Het |
| Snx33 |
G |
A |
9: 56,832,681 (GRCm39) |
H463Y |
probably benign |
Het |
| Steap2 |
T |
C |
5: 5,727,544 (GRCm39) |
T264A |
possibly damaging |
Het |
| Stk40 |
T |
A |
4: 126,028,852 (GRCm39) |
V238E |
probably damaging |
Het |
| Sun2 |
T |
C |
15: 79,618,328 (GRCm39) |
D277G |
probably benign |
Het |
| Ttll9 |
T |
C |
2: 152,832,020 (GRCm39) |
|
probably null |
Het |
| Vmn1r54 |
G |
A |
6: 90,246,347 (GRCm39) |
C87Y |
probably benign |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGCTTTTAAGACTCTTTCCT -3'
(R):5'- CCAGGGACTTAAAGGCAATTAATTGTT -3'
Sequencing Primer
(F):5'- GCCTGCCCTTTTCTGAAGAGAAATG -3'
(R):5'- ACTTAAAGGCAATTAATTGTTTGGAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation