Incidental Mutation 'R2343:Smoc2'
| ID |
245909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smoc2
|
| Ensembl Gene |
ENSMUSG00000023886 |
| Gene Name |
SPARC related modular calcium binding 2 |
| Synonyms |
Smoc2l, 5430426J21Rik, 1700056C05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2343 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
14279506-14404790 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14344342 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 160
(K160R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024660]
|
| AlphaFold |
Q8CD91 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024660
AA Change: K160R
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000024660
Gene: ENSMUSG00000023886
AA Change: K160R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
KAZAL
|
39 |
84 |
1.49e-12 |
SMART |
|
TY
|
110 |
157 |
3.07e-14 |
SMART |
|
low complexity region
|
166 |
177 |
N/A |
INTRINSIC |
|
TY
|
237 |
285 |
3.34e-15 |
SMART |
|
Pfam:SPARC_Ca_bdg
|
302 |
412 |
8.6e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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 SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for one KO allele exhibit protection from induced kidney fibrosis and reduced interstitial myofibroblast accumulation. Another KO allele leads to shortening and widening of the skull. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcr |
T |
C |
10: 75,145,422 |
I691T |
probably benign |
Het |
| Col20a1 |
A |
G |
2: 181,001,331 |
T865A |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,890,678 |
R1676H |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,602,298 |
V1111A |
probably damaging |
Het |
| Eif3g |
T |
C |
9: 20,895,154 |
Y213C |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 38,957,105 |
S2118F |
probably damaging |
Het |
| Gpr85 |
A |
G |
6: 13,836,696 |
S70P |
probably damaging |
Het |
| Krtap31-1 |
A |
C |
11: 99,908,021 |
T17P |
possibly damaging |
Het |
| Lig1 |
A |
G |
7: 13,292,195 |
|
probably null |
Het |
| Lman2l |
A |
T |
1: 36,428,109 |
D269E |
possibly damaging |
Het |
| Mcc |
A |
G |
18: 44,459,797 |
|
probably null |
Het |
| Nav2 |
T |
C |
7: 49,598,817 |
F2302L |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,930,752 |
E26K |
possibly damaging |
Het |
| Olfr1282 |
A |
G |
2: 111,335,700 |
I126T |
probably damaging |
Het |
| Olfr1342 |
C |
A |
4: 118,690,187 |
M88I |
probably benign |
Het |
| Sema6c |
T |
C |
3: 95,167,083 |
F67L |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,464,731 |
V448D |
probably damaging |
Het |
| Spata2 |
A |
T |
2: 167,483,360 |
V513E |
probably damaging |
Het |
| Susd3 |
T |
A |
13: 49,238,859 |
M107L |
probably damaging |
Het |
| Tnni3k |
A |
G |
3: 154,938,829 |
I564T |
probably benign |
Het |
| Zfp971 |
A |
G |
2: 178,032,994 |
K129E |
possibly damaging |
Het |
|
| Other mutations in Smoc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01625:Smoc2
|
APN |
17 |
14325614 |
missense |
probably damaging |
1.00 |
|
IGL02085:Smoc2
|
APN |
17 |
14347233 |
missense |
possibly damaging |
0.79 |
|
IGL02309:Smoc2
|
APN |
17 |
14375527 |
splice site |
probably benign |
|
|
IGL02975:Smoc2
|
APN |
17 |
14336610 |
missense |
probably damaging |
0.98 |
|
enamel
|
UTSW |
17 |
14325634 |
missense |
probably damaging |
1.00 |
|
FR4976:Smoc2
|
UTSW |
17 |
14401562 |
small deletion |
probably benign |
|
|
R2291:Smoc2
|
UTSW |
17 |
14368971 |
missense |
possibly damaging |
0.53 |
|
R2888:Smoc2
|
UTSW |
17 |
14397625 |
critical splice donor site |
probably null |
|
|
R3878:Smoc2
|
UTSW |
17 |
14325617 |
missense |
probably damaging |
1.00 |
|
R4872:Smoc2
|
UTSW |
17 |
14369033 |
missense |
probably benign |
0.12 |
|
R5153:Smoc2
|
UTSW |
17 |
14336579 |
missense |
probably damaging |
1.00 |
|
R5175:Smoc2
|
UTSW |
17 |
14375457 |
missense |
possibly damaging |
0.89 |
|
R5239:Smoc2
|
UTSW |
17 |
14368965 |
missense |
probably benign |
0.19 |
|
R5292:Smoc2
|
UTSW |
17 |
14336573 |
missense |
probably damaging |
0.98 |
|
R5794:Smoc2
|
UTSW |
17 |
14369048 |
missense |
possibly damaging |
0.94 |
|
R7810:Smoc2
|
UTSW |
17 |
14325622 |
missense |
probably damaging |
1.00 |
|
R7996:Smoc2
|
UTSW |
17 |
14375468 |
nonsense |
probably null |
|
|
R8811:Smoc2
|
UTSW |
17 |
14325634 |
missense |
probably damaging |
1.00 |
|
R9214:Smoc2
|
UTSW |
17 |
14336577 |
missense |
probably damaging |
1.00 |
|
R9287:Smoc2
|
UTSW |
17 |
14399424 |
missense |
probably damaging |
1.00 |
|
X0026:Smoc2
|
UTSW |
17 |
14336633 |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGTCAGTGCCACTACTTTGG -3'
(R):5'- CAGGACTGGACCCATGATTCTG -3'
Sequencing Primer
(F):5'- CAGTGCCACTACTTTGGTTACGG -3'
(R):5'- GACCCATGATTCTGGAAGGTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation