Incidental Mutation 'R3841:Rcan2'
| ID |
277185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcan2
|
| Ensembl Gene |
ENSMUSG00000039601 |
| Gene Name |
regulator of calcineurin 2 |
| Synonyms |
ZAKI-4, MCIP2, Csp2, Dscr1l1 |
| MMRRC Submission |
040781-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R3841 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
44112243-44350407 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44347870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 193
(K193R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154835
(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: K147R
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000048013
Gene: ENSMUSG00000039601
AA Change: K147R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calcipressin
|
20 |
191 |
2.1e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044895
AA Change: K193R
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000039473
Gene: ENSMUSG00000039601
AA Change: K193R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calcipressin
|
66 |
237 |
1.3e-66 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177857
AA Change: K147R
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000137211
Gene: ENSMUSG00000039601
AA Change: K147R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Calcipressin
|
20 |
191 |
2.1e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228972
AA Change: K193R
PolyPhen 2
Score 0.245 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229744
AA Change: K193R
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229939
|
| Meta Mutation Damage Score |
0.0830 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
98% (43/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
T |
18: 6,620,104 (GRCm39) |
K11N |
probably benign |
Het |
| Atp8b3 |
A |
G |
10: 80,365,540 (GRCm39) |
F405L |
possibly damaging |
Het |
| BC035947 |
G |
T |
1: 78,474,482 (GRCm39) |
N683K |
probably benign |
Het |
| Bmper |
T |
A |
9: 23,384,727 (GRCm39) |
|
probably null |
Het |
| Btnl7-ps |
A |
G |
17: 34,761,550 (GRCm39) |
|
noncoding transcript |
Het |
| Cmya5 |
A |
G |
13: 93,231,140 (GRCm39) |
V1316A |
probably damaging |
Het |
| Cracd |
A |
T |
5: 77,006,858 (GRCm39) |
Q1073L |
unknown |
Het |
| Dgcr6 |
C |
A |
16: 17,888,077 (GRCm39) |
Y200* |
probably null |
Het |
| Dsp |
A |
C |
13: 38,381,681 (GRCm39) |
I2210L |
probably benign |
Het |
| Eef1e1 |
G |
A |
13: 38,840,167 (GRCm39) |
T46I |
probably damaging |
Het |
| Epc2 |
A |
G |
2: 49,378,750 (GRCm39) |
K68R |
probably damaging |
Het |
| F11r |
G |
T |
1: 171,288,457 (GRCm39) |
R100L |
probably damaging |
Het |
| Fam83c |
C |
T |
2: 155,676,668 (GRCm39) |
R34H |
probably benign |
Het |
| Fbxw25 |
A |
T |
9: 109,491,202 (GRCm39) |
Y105* |
probably null |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Hipk2 |
T |
C |
6: 38,795,861 (GRCm39) |
E136G |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,544,180 (GRCm39) |
|
probably null |
Het |
| Impdh1 |
A |
G |
6: 29,202,768 (GRCm39) |
S421P |
probably damaging |
Het |
| Jhy |
T |
A |
9: 40,856,142 (GRCm39) |
E115V |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,742,588 (GRCm39) |
|
probably benign |
Het |
| Ldlrap1 |
T |
C |
4: 134,477,747 (GRCm39) |
T159A |
probably damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,537 (GRCm39) |
T388A |
probably damaging |
Het |
| Map3k10 |
C |
A |
7: 27,357,789 (GRCm39) |
C663F |
possibly damaging |
Het |
| Me3 |
A |
T |
7: 89,435,701 (GRCm39) |
N179Y |
possibly damaging |
Het |
| Medag |
T |
A |
5: 149,350,888 (GRCm39) |
I121N |
probably damaging |
Het |
| Mocos |
C |
T |
18: 24,809,681 (GRCm39) |
A428V |
probably damaging |
Het |
| Mok |
C |
T |
12: 110,781,591 (GRCm39) |
V59M |
probably benign |
Het |
| Neb |
C |
A |
2: 52,097,672 (GRCm39) |
|
probably null |
Het |
| Nr2c2 |
C |
T |
6: 92,140,119 (GRCm39) |
R464W |
probably damaging |
Het |
| Or52s1 |
G |
A |
7: 102,861,900 (GRCm39) |
G267R |
probably damaging |
Het |
| Or6c35 |
A |
G |
10: 129,169,202 (GRCm39) |
I151V |
probably benign |
Het |
| Otud1 |
G |
T |
2: 19,663,554 (GRCm39) |
E228* |
probably null |
Het |
| Parp4 |
A |
T |
14: 56,825,235 (GRCm39) |
N120Y |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,182,887 (GRCm39) |
V1521A |
possibly damaging |
Het |
| Rap1gap |
T |
C |
4: 137,444,758 (GRCm39) |
F182S |
probably damaging |
Het |
| Rdh19 |
A |
T |
10: 127,692,755 (GRCm39) |
M141L |
probably benign |
Het |
| Selenok |
C |
T |
14: 29,695,337 (GRCm39) |
R72* |
probably null |
Het |
| Tbpl1 |
A |
G |
10: 22,587,807 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
A |
G |
17: 34,917,897 (GRCm39) |
E2270G |
possibly damaging |
Het |
| Tulp1 |
A |
G |
17: 28,572,689 (GRCm39) |
V489A |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,611,065 (GRCm39) |
|
probably benign |
Het |
| Zfp617 |
G |
A |
8: 72,685,961 (GRCm39) |
G97E |
probably damaging |
Het |
| Zfp773 |
A |
G |
7: 7,135,390 (GRCm39) |
V402A |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCAGCTTTTAAGACTCTTTCCT -3'
(R):5'- TGTTATCATGGACGTGCTCAGT -3'
Sequencing Primer
(F):5'- GCCTGCCCTTTTCTGAAGAGAAATG -3'
(R):5'- ACGTGCTCAGTTGGACAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation