Incidental Mutation 'R4955:Rcan2'
| ID |
381553 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcan2
|
| Ensembl Gene |
ENSMUSG00000039601 |
| Gene Name |
regulator of calcineurin 2 |
| Synonyms |
ZAKI-4, MCIP2, Csp2, Dscr1l1 |
| MMRRC Submission |
042552-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R4955 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
44112243-44350407 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 44347972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 13
(P13Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044792]
[ENSMUST00000044895]
[ENSMUST00000177857]
[ENSMUST00000228972]
[ENSMUST00000229744]
[ENSMUST00000229939]
|
| AlphaFold |
Q9JHG2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044792
AA Change: P181Q
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000048013
Gene: ENSMUSG00000039601
AA Change: P181Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calcipressin
|
20 |
191 |
2.1e-64 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044895
AA Change: P227Q
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000039473
Gene: ENSMUSG00000039601
AA Change: P227Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calcipressin
|
66 |
237 |
1.3e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177857
AA Change: P181Q
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000137211
Gene: ENSMUSG00000039601
AA Change: P181Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calcipressin
|
20 |
191 |
2.1e-64 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228972
AA Change: P227Q
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229744
AA Change: P227Q
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000229939
AA Change: P13Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.0945 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
100% (50/50) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
G |
C |
1: 120,096,840 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
C |
T |
1: 120,096,850 (GRCm39) |
|
probably benign |
Het |
| 3110009E18Rik |
G |
T |
1: 120,096,849 (GRCm39) |
|
probably benign |
Het |
| 4933407L21Rik |
T |
A |
1: 85,859,008 (GRCm39) |
|
probably benign |
Het |
| Abca8a |
T |
G |
11: 109,927,338 (GRCm39) |
E1338D |
probably benign |
Het |
| Arl2bp |
G |
A |
8: 95,397,056 (GRCm39) |
|
probably null |
Het |
| Arsj |
T |
C |
3: 126,232,189 (GRCm39) |
Y312H |
probably benign |
Het |
| Atp8b2 |
G |
T |
3: 89,860,227 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
T |
C |
1: 104,912,528 (GRCm39) |
V594A |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,295,640 (GRCm39) |
V1646E |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 48,536,914 (GRCm39) |
I96K |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,191,455 (GRCm39) |
Q1556R |
possibly damaging |
Het |
| Fstl5 |
T |
A |
3: 76,131,183 (GRCm39) |
|
probably null |
Het |
| H4c9 |
T |
A |
13: 22,225,355 (GRCm39) |
I47F |
probably damaging |
Het |
| Hivep2 |
T |
A |
10: 14,006,702 (GRCm39) |
M1100K |
probably benign |
Het |
| Ing4 |
C |
T |
6: 125,025,164 (GRCm39) |
A225V |
probably damaging |
Het |
| Kcnc3 |
CTT |
CT |
7: 44,240,720 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
A |
1: 32,559,158 (GRCm39) |
|
probably benign |
Het |
| Kif21a |
A |
T |
15: 90,821,393 (GRCm39) |
W1566R |
probably damaging |
Het |
| Lrfn5 |
A |
C |
12: 61,886,764 (GRCm39) |
D184A |
probably benign |
Het |
| Mettl2 |
C |
T |
11: 105,028,605 (GRCm39) |
T319I |
possibly damaging |
Het |
| Mgrn1 |
T |
C |
16: 4,752,083 (GRCm39) |
V529A |
probably benign |
Het |
| Naca |
T |
A |
10: 127,878,084 (GRCm39) |
|
probably benign |
Het |
| Ninj2 |
A |
G |
6: 120,174,907 (GRCm39) |
N26S |
probably damaging |
Het |
| Nqo1 |
A |
G |
8: 108,115,489 (GRCm39) |
S263P |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,959,998 (GRCm39) |
T3566A |
probably benign |
Het |
| Opn5 |
A |
T |
17: 42,922,129 (GRCm39) |
F24L |
probably damaging |
Het |
| Or14j8 |
T |
C |
17: 38,263,789 (GRCm39) |
N42S |
probably damaging |
Het |
| Or2t43 |
A |
G |
11: 58,457,344 (GRCm39) |
Y276H |
probably damaging |
Het |
| Or4k41 |
A |
T |
2: 111,279,950 (GRCm39) |
H155L |
probably damaging |
Het |
| Or52a20 |
A |
T |
7: 103,365,912 (GRCm39) |
Y37F |
probably benign |
Het |
| Palmd |
A |
G |
3: 116,717,873 (GRCm39) |
V208A |
probably damaging |
Het |
| Plekhd1 |
T |
A |
12: 80,768,795 (GRCm39) |
I426N |
possibly damaging |
Het |
| Polq |
T |
G |
16: 36,881,444 (GRCm39) |
Y1203D |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,415,143 (GRCm39) |
F251S |
probably damaging |
Het |
| Prkd3 |
T |
C |
17: 79,260,156 (GRCm39) |
M816V |
probably null |
Het |
| Rab3gap2 |
C |
T |
1: 184,999,352 (GRCm39) |
|
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 39,116,866 (GRCm39) |
V329A |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,318,246 (GRCm39) |
M633T |
probably benign |
Het |
| Stac2 |
A |
C |
11: 97,934,374 (GRCm39) |
L110R |
possibly damaging |
Het |
| Styxl2 |
T |
C |
1: 165,935,661 (GRCm39) |
Y179C |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,154,075 (GRCm39) |
E126G |
probably damaging |
Het |
| Ttll6 |
A |
G |
11: 96,029,615 (GRCm39) |
D176G |
possibly damaging |
Het |
| Utrn |
C |
T |
10: 12,737,311 (GRCm39) |
|
probably null |
Het |
| Zfp341 |
T |
C |
2: 154,479,950 (GRCm39) |
V467A |
probably 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAAGCAGCTTTTAAGACTCTTTCC -3'
(R):5'- GGAAGGATTCGCAAACAACCAA -3'
Sequencing Primer
(F):5'- GCCTGCCCTTTTCTGAAGAGAAATG -3'
(R):5'- AACACCCAGGGACTTAAAGG -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation