Incidental Mutation 'R0016:Stc2'
| ID |
8279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stc2
|
| Ensembl Gene |
ENSMUSG00000020303 |
| Gene Name |
stanniocalcin 2 |
| Synonyms |
mustc2, Stc2l |
| MMRRC Submission |
038311-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R0016 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
31309441-31320061 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 31310177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 286
(D286E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020546
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020546]
|
| AlphaFold |
O88452 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020546
AA Change: D286E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000020546
Gene: ENSMUSG00000020303
AA Change: D286E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Stanniocalcin
|
12 |
215 |
1.4e-94 |
PFAM |
|
low complexity region
|
271 |
282 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139991
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 81.7%
- 3x: 74.6%
- 10x: 53.6%
- 20x: 32.4%
|
| Validation Efficiency |
93% (85/91) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The encoded protein has 10 of its 15 cysteine residues conserved among stanniocalcin family members and is phosphorylated by casein kinase 2 exclusively on its serine residues. Its C-terminus contains a cluster of histidine residues which may interact with metal ions. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Constitutive overexpression of human stanniocalcin 2 in mice resulted in pre- and postnatal growth restriction, reduced bone and skeletal muscle growth, and organomegaly. Expression of this gene is induced by estrogen and altered in some breast cancers. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are 10-15% larger and grow at a faster rate than wild-type controls from 4 weeks onward. The increased body weight results from an increase in the weight of most major organs, with the exception of testis. Mean alkaline phosphatase levels are 144% of wild-type levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
C |
1: 71,333,959 (GRCm39) |
V1181G |
probably benign |
Het |
| Adamts12 |
A |
T |
15: 11,217,915 (GRCm39) |
I291F |
probably damaging |
Het |
| Aspm |
G |
C |
1: 139,407,282 (GRCm39) |
Q2056H |
probably benign |
Het |
| C7 |
A |
T |
15: 5,076,406 (GRCm39) |
V122E |
probably benign |
Het |
| Casp12 |
A |
T |
9: 5,352,844 (GRCm39) |
Q152L |
probably null |
Het |
| Cpne8 |
A |
G |
15: 90,385,608 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
T |
C |
13: 113,502,639 (GRCm39) |
Y115H |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,090,384 (GRCm39) |
I347F |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,144,346 (GRCm39) |
|
probably benign |
Het |
| Echdc1 |
A |
T |
10: 29,198,417 (GRCm39) |
|
probably benign |
Het |
| Elovl3 |
T |
A |
19: 46,120,597 (GRCm39) |
F30Y |
probably damaging |
Het |
| Fgd3 |
C |
T |
13: 49,450,085 (GRCm39) |
D55N |
probably benign |
Het |
| Fhod1 |
T |
C |
8: 106,058,287 (GRCm39) |
E823G |
possibly damaging |
Het |
| Gapvd1 |
A |
G |
2: 34,589,925 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Kif27 |
A |
G |
13: 58,502,528 (GRCm39) |
V50A |
probably damaging |
Het |
| Lrp2bp |
T |
A |
8: 46,465,068 (GRCm39) |
F62L |
probably damaging |
Het |
| Marf1 |
G |
A |
16: 13,970,129 (GRCm39) |
H197Y |
probably damaging |
Het |
| Mon2 |
C |
T |
10: 122,871,451 (GRCm39) |
V389M |
probably damaging |
Het |
| Myh8 |
A |
G |
11: 67,189,351 (GRCm39) |
K1176E |
probably damaging |
Het |
| Nckap1l |
A |
G |
15: 103,384,063 (GRCm39) |
T554A |
probably benign |
Het |
| Oog3 |
A |
G |
4: 143,884,641 (GRCm39) |
Y432H |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,303,182 (GRCm39) |
|
probably benign |
Het |
| Srgap2 |
A |
G |
1: 131,277,200 (GRCm39) |
M349T |
possibly damaging |
Het |
| Stk31 |
T |
C |
6: 49,414,311 (GRCm39) |
Y482H |
probably damaging |
Het |
| Sycp2l |
A |
G |
13: 41,310,976 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
A |
C |
13: 3,635,170 (GRCm39) |
|
probably null |
Het |
| Trgv5 |
G |
A |
13: 19,376,889 (GRCm39) |
W112* |
probably null |
Het |
| Trim27 |
A |
T |
13: 21,375,399 (GRCm39) |
E310V |
probably benign |
Het |
| Uvrag |
T |
C |
7: 98,641,188 (GRCm39) |
K284R |
probably benign |
Het |
| Xylt2 |
A |
G |
11: 94,560,466 (GRCm39) |
S270P |
probably damaging |
Het |
| Zwint |
T |
C |
10: 72,493,030 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Stc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02145:Stc2
|
APN |
11 |
31,317,875 (GRCm39) |
splice site |
probably benign |
|
|
IGL03330:Stc2
|
APN |
11 |
31,319,804 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0016:Stc2
|
UTSW |
11 |
31,310,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0025:Stc2
|
UTSW |
11 |
31,315,559 (GRCm39) |
splice site |
probably null |
|
|
R1510:Stc2
|
UTSW |
11 |
31,315,418 (GRCm39) |
nonsense |
probably null |
|
|
R4581:Stc2
|
UTSW |
11 |
31,315,326 (GRCm39) |
splice site |
probably null |
|
|
R6106:Stc2
|
UTSW |
11 |
31,310,392 (GRCm39) |
missense |
probably benign |
|
|
R6252:Stc2
|
UTSW |
11 |
31,310,346 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6675:Stc2
|
UTSW |
11 |
31,310,307 (GRCm39) |
missense |
probably benign |
|
|
R6797:Stc2
|
UTSW |
11 |
31,315,351 (GRCm39) |
nonsense |
probably null |
|
|
R7192:Stc2
|
UTSW |
11 |
31,319,872 (GRCm39) |
start gained |
probably benign |
|
|
R7545:Stc2
|
UTSW |
11 |
31,317,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7570:Stc2
|
UTSW |
11 |
31,317,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7846:Stc2
|
UTSW |
11 |
31,315,413 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8057:Stc2
|
UTSW |
11 |
31,317,806 (GRCm39) |
nonsense |
probably null |
|
|
R8273:Stc2
|
UTSW |
11 |
31,319,777 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9146:Stc2
|
UTSW |
11 |
31,317,847 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9374:Stc2
|
UTSW |
11 |
31,310,332 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9499:Stc2
|
UTSW |
11 |
31,310,332 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9552:Stc2
|
UTSW |
11 |
31,310,332 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Stc2
|
UTSW |
11 |
31,310,415 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2012-11-21 |
Incidental Mutation