Incidental Mutation 'R2888:Smoc2'
| ID |
260013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smoc2
|
| Ensembl Gene |
ENSMUSG00000023886 |
| Gene Name |
SPARC related modular calcium binding 2 |
| Synonyms |
5430426J21Rik, 1700056C05Rik, Smoc2l |
| MMRRC Submission |
040476-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2888 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
14499768-14625052 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 14617887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024660
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024660]
|
| AlphaFold |
Q8CD91 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024660
|
| SMART Domains |
Protein: ENSMUSP00000024660
Gene: ENSMUSG00000023886
| 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 |
|
| Meta Mutation Damage Score |
0.9487 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (39/39) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930480E11Rik |
A |
T |
X: 77,414,288 (GRCm39) |
I338F |
probably damaging |
Het |
| Acd |
A |
G |
8: 106,425,470 (GRCm39) |
S288P |
probably benign |
Het |
| Aimp2 |
T |
C |
5: 143,846,553 (GRCm39) |
|
probably benign |
Het |
| Atp8b2 |
T |
C |
3: 89,865,600 (GRCm39) |
D100G |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,258,968 (GRCm39) |
I1226F |
probably damaging |
Het |
| Dsp |
C |
A |
13: 38,376,224 (GRCm39) |
N1336K |
possibly damaging |
Het |
| Extl2 |
T |
C |
3: 115,820,906 (GRCm39) |
F251S |
probably damaging |
Het |
| Gusb |
T |
C |
5: 130,029,343 (GRCm39) |
H146R |
probably damaging |
Het |
| Itpr2 |
C |
T |
6: 146,072,791 (GRCm39) |
G2380S |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,763,764 (GRCm39) |
K762E |
probably benign |
Het |
| Krtap4-9 |
C |
A |
11: 99,676,245 (GRCm39) |
C55* |
probably null |
Het |
| Lamp1 |
T |
A |
8: 13,223,891 (GRCm39) |
L341H |
probably damaging |
Het |
| Llcfc1 |
A |
T |
6: 41,661,537 (GRCm39) |
K29M |
probably damaging |
Het |
| Malrd1 |
A |
T |
2: 16,079,568 (GRCm39) |
I1762F |
unknown |
Het |
| Muc5b |
G |
A |
7: 141,415,291 (GRCm39) |
V2746M |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,858,802 (GRCm39) |
D1173E |
probably benign |
Het |
| Myo5b |
G |
C |
18: 74,895,689 (GRCm39) |
E1782Q |
probably damaging |
Het |
| Or2t46 |
T |
C |
11: 58,471,988 (GRCm39) |
F106S |
possibly damaging |
Het |
| Pcdha5 |
A |
G |
18: 37,094,940 (GRCm39) |
D483G |
probably damaging |
Het |
| Phex |
T |
C |
X: 156,093,954 (GRCm39) |
I439V |
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,897,251 (GRCm39) |
S103C |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,187,668 (GRCm39) |
R176C |
probably damaging |
Het |
| Ppp1r3a |
T |
G |
6: 14,718,248 (GRCm39) |
S889R |
possibly damaging |
Het |
| Pramel23 |
G |
T |
4: 143,423,460 (GRCm39) |
T443K |
probably benign |
Het |
| Prol1 |
C |
A |
5: 88,476,168 (GRCm39) |
A186E |
unknown |
Het |
| Rbm39 |
C |
T |
2: 156,009,503 (GRCm39) |
R123H |
probably benign |
Het |
| Rtn4 |
T |
C |
11: 29,643,687 (GRCm39) |
S167P |
probably damaging |
Het |
| Slc35a5 |
A |
G |
16: 44,971,923 (GRCm39) |
C114R |
probably damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,798,664 (GRCm39) |
T1998A |
possibly damaging |
Het |
| Tbc1d5 |
T |
A |
17: 51,242,577 (GRCm39) |
E173D |
probably damaging |
Het |
| Tsc2 |
A |
G |
17: 24,850,969 (GRCm39) |
|
probably null |
Het |
| Umps |
A |
T |
16: 33,784,240 (GRCm39) |
V71E |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,840 (GRCm39) |
D45G |
possibly damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,831,476 (GRCm39) |
E917* |
probably null |
Het |
| Zfhx2 |
T |
C |
14: 55,302,260 (GRCm39) |
K1908R |
possibly damaging |
Het |
| Zfp511 |
A |
C |
7: 139,619,295 (GRCm39) |
D204A |
probably benign |
Het |
|
| Other mutations in Smoc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01625:Smoc2
|
APN |
17 |
14,545,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02085:Smoc2
|
APN |
17 |
14,567,495 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02309:Smoc2
|
APN |
17 |
14,595,789 (GRCm39) |
splice site |
probably benign |
|
|
IGL02975:Smoc2
|
APN |
17 |
14,556,872 (GRCm39) |
missense |
probably damaging |
0.98 |
|
enamel
|
UTSW |
17 |
14,545,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4976:Smoc2
|
UTSW |
17 |
14,621,824 (GRCm39) |
small deletion |
probably benign |
|
|
R2291:Smoc2
|
UTSW |
17 |
14,589,233 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2343:Smoc2
|
UTSW |
17 |
14,564,604 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3878:Smoc2
|
UTSW |
17 |
14,545,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4872:Smoc2
|
UTSW |
17 |
14,589,295 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5153:Smoc2
|
UTSW |
17 |
14,556,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Smoc2
|
UTSW |
17 |
14,595,719 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5239:Smoc2
|
UTSW |
17 |
14,589,227 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5292:Smoc2
|
UTSW |
17 |
14,556,835 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5794:Smoc2
|
UTSW |
17 |
14,589,310 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7810:Smoc2
|
UTSW |
17 |
14,545,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7996:Smoc2
|
UTSW |
17 |
14,595,730 (GRCm39) |
nonsense |
probably null |
|
|
R8811:Smoc2
|
UTSW |
17 |
14,545,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9214:Smoc2
|
UTSW |
17 |
14,556,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Smoc2
|
UTSW |
17 |
14,619,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Smoc2
|
UTSW |
17 |
14,556,895 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACGAATACAGTGCGCCTGC -3'
(R):5'- ATGAAGAGGGAGGCTGTTCC -3'
Sequencing Primer
(F):5'- CATCTCATTCACATTGAAGCAAGTC -3'
(R):5'- ATGGTCCGCCTCCTCTAAGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation