Incidental Mutation 'IGL00433:Csrp3'
| ID |
5242 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Csrp3
|
| Ensembl Gene |
ENSMUSG00000030470 |
| Gene Name |
cysteine and glycine-rich protein 3 |
| Synonyms |
MLP, muscle LIM protein, CRP3 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.646)
|
| Stock # |
IGL00433
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
48480146-48497781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48480440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 175
(N175D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129378
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032658]
[ENSMUST00000118927]
[ENSMUST00000167786]
[ENSMUST00000208050]
|
| AlphaFold |
P50462 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032658
AA Change: N175D
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000032658
Gene: ENSMUSG00000030470
AA Change: N175D
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
9 |
61 |
5.87e-12 |
SMART |
|
LIM
|
119 |
171 |
3.96e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118927
|
| SMART Domains |
Protein: ENSMUSP00000112498
Gene: ENSMUSG00000030471
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
48 |
77 |
1e-9 |
BLAST |
|
ANK
|
81 |
110 |
3.08e-1 |
SMART |
|
ANK
|
115 |
144 |
4.39e-6 |
SMART |
|
ANK
|
148 |
177 |
2.37e-2 |
SMART |
|
ANK
|
181 |
211 |
5.19e2 |
SMART |
|
ANK
|
216 |
245 |
8.07e-5 |
SMART |
|
ANK
|
249 |
277 |
1.09e3 |
SMART |
|
transmembrane domain
|
292 |
310 |
N/A |
INTRINSIC |
|
transmembrane domain
|
317 |
339 |
N/A |
INTRINSIC |
|
transmembrane domain
|
344 |
366 |
N/A |
INTRINSIC |
|
transmembrane domain
|
373 |
392 |
N/A |
INTRINSIC |
|
Pfam:zf-DHHC
|
421 |
558 |
1.1e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167786
AA Change: N175D
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000129378
Gene: ENSMUSG00000030470
AA Change: N175D
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
9 |
61 |
5.87e-12 |
SMART |
|
LIM
|
119 |
171 |
3.96e-18 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208146
|
| Coding Region Coverage |
|
| 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 CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit dilated cardiomyopathy characterized by disrupted cardiomyocyte organization that results in premature death, left ventricle dilation, hypertrophy, decreased contractility, and fibrosis. Some homozygotes die postnataly due to heart failure. [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 |
|---|
| Adamts20 |
G |
A |
15: 94,292,522 (GRCm39) |
A196V |
probably benign |
Het |
| BC024139 |
A |
G |
15: 76,009,300 (GRCm39) |
V238A |
probably benign |
Het |
| Bfar |
G |
A |
16: 13,516,827 (GRCm39) |
D350N |
probably benign |
Het |
| C4b |
A |
T |
17: 34,961,015 (GRCm39) |
F217Y |
possibly damaging |
Het |
| Camk1g |
T |
C |
1: 193,029,657 (GRCm39) |
|
probably benign |
Het |
| Camkmt |
A |
G |
17: 85,404,094 (GRCm39) |
|
probably benign |
Het |
| Cass4 |
T |
C |
2: 172,258,170 (GRCm39) |
L56P |
probably damaging |
Het |
| Ccs |
A |
G |
19: 4,875,636 (GRCm39) |
I243T |
possibly damaging |
Het |
| Cds2 |
T |
C |
2: 132,139,213 (GRCm39) |
V152A |
probably damaging |
Het |
| Chd1l |
T |
C |
3: 97,497,921 (GRCm39) |
N307D |
probably damaging |
Het |
| Cmtm2b |
T |
C |
8: 105,057,078 (GRCm39) |
I146T |
possibly damaging |
Het |
| Cntnap3 |
T |
C |
13: 64,920,545 (GRCm39) |
Y608C |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,735,703 (GRCm39) |
R157G |
probably damaging |
Het |
| Csmd1 |
A |
C |
8: 16,281,387 (GRCm39) |
F713V |
probably damaging |
Het |
| Exoc4 |
A |
G |
6: 33,273,723 (GRCm39) |
D176G |
probably damaging |
Het |
| Fbxo10 |
T |
C |
4: 45,058,684 (GRCm39) |
D351G |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,798,049 (GRCm39) |
S815T |
probably benign |
Het |
| Gpld1 |
A |
G |
13: 25,170,905 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,453,123 (GRCm39) |
C606R |
possibly damaging |
Het |
| Leo1 |
C |
T |
9: 75,357,762 (GRCm39) |
|
probably benign |
Het |
| Mta3 |
C |
T |
17: 84,015,861 (GRCm39) |
P21L |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,407,635 (GRCm39) |
E471G |
probably damaging |
Het |
| Postn |
C |
T |
3: 54,281,149 (GRCm39) |
R425C |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,250,007 (GRCm39) |
L676P |
probably damaging |
Het |
| Sin3a |
G |
A |
9: 57,005,185 (GRCm39) |
V362M |
probably damaging |
Het |
| Slc6a7 |
C |
T |
18: 61,134,363 (GRCm39) |
|
probably null |
Het |
| Smc6 |
A |
T |
12: 11,349,264 (GRCm39) |
D749V |
possibly damaging |
Het |
| Smg5 |
C |
T |
3: 88,258,735 (GRCm39) |
Q569* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,466,970 (GRCm39) |
C4130Y |
probably damaging |
Het |
| Tlcd3a |
T |
C |
11: 76,098,817 (GRCm39) |
F164L |
probably damaging |
Het |
| Tnn |
A |
T |
1: 159,925,776 (GRCm39) |
|
probably benign |
Het |
| Tomt |
C |
T |
7: 101,551,393 (GRCm39) |
R29H |
probably benign |
Het |
| Uggt2 |
A |
T |
14: 119,250,899 (GRCm39) |
D1199E |
probably benign |
Het |
| Usp33 |
A |
G |
3: 152,079,046 (GRCm39) |
K433E |
probably benign |
Het |
| Vmn2r89 |
A |
G |
14: 51,692,422 (GRCm39) |
Y75C |
probably damaging |
Het |
| Wnt7a |
C |
T |
6: 91,342,973 (GRCm39) |
G303D |
probably damaging |
Het |
|
| Other mutations in Csrp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1203:Csrp3
|
UTSW |
7 |
48,489,278 (GRCm39) |
start codon destroyed |
probably null |
0.97 |
|
R4778:Csrp3
|
UTSW |
7 |
48,482,311 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5577:Csrp3
|
UTSW |
7 |
48,489,225 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6010:Csrp3
|
UTSW |
7 |
48,485,213 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6472:Csrp3
|
UTSW |
7 |
48,485,356 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7214:Csrp3
|
UTSW |
7 |
48,480,385 (GRCm39) |
missense |
probably benign |
|
|
R7309:Csrp3
|
UTSW |
7 |
48,485,317 (GRCm39) |
missense |
probably benign |
|
|
R7803:Csrp3
|
UTSW |
7 |
48,483,545 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9395:Csrp3
|
UTSW |
7 |
48,489,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-04-20 |
Incidental Mutation