Incidental Mutation 'R4202:Csrp1'
| ID |
318781 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csrp1
|
| Ensembl Gene |
ENSMUSG00000026421 |
| Gene Name |
cysteine and glycine-rich protein 1 |
| Synonyms |
CRP1 |
| MMRRC Submission |
041032-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.261)
|
| Stock # |
R4202 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
135647799-135679970 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 135673065 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 61
(C61G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027677]
[ENSMUST00000097561]
|
| AlphaFold |
P97315 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027677
AA Change: C61G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027677
Gene: ENSMUSG00000026421
AA Change: C61G
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
9 |
61 |
1.49e-13 |
SMART |
|
LIM
|
118 |
170 |
2.57e-17 |
SMART |
|
low complexity region
|
172 |
188 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097561
AA Change: C61G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095169
Gene: ENSMUSG00000026421
AA Change: C61G
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
9 |
61 |
1.49e-13 |
SMART |
|
LIM
|
118 |
170 |
2.57e-17 |
SMART |
|
low complexity region
|
172 |
188 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9664 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
92% (33/36) |
| 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 cysteine-rich protein (CSRP) family. This gene family includes a group 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 gene product occurs in proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased neointima formation following wire-induced arterial injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adsl |
C |
T |
15: 80,836,417 (GRCm39) |
T58I |
probably damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,226,430 (GRCm39) |
|
probably null |
Het |
| Bclaf3 |
T |
A |
X: 158,336,829 (GRCm39) |
S419T |
probably damaging |
Het |
| Bysl |
A |
G |
17: 47,915,251 (GRCm39) |
S166P |
probably benign |
Het |
| Cd101 |
A |
C |
3: 100,926,001 (GRCm39) |
D239E |
probably damaging |
Het |
| Cdc42bpb |
G |
A |
12: 111,260,573 (GRCm39) |
P1702S |
probably benign |
Het |
| Cfap65 |
G |
T |
1: 74,959,701 (GRCm39) |
F816L |
probably damaging |
Het |
| Cnot6 |
T |
C |
11: 49,593,463 (GRCm39) |
Y6C |
probably damaging |
Het |
| Gmeb2 |
A |
G |
2: 180,895,766 (GRCm39) |
V468A |
possibly damaging |
Het |
| Gucy2g |
A |
G |
19: 55,218,201 (GRCm39) |
S416P |
possibly damaging |
Het |
| Hormad1 |
G |
A |
3: 95,492,509 (GRCm39) |
R362H |
probably benign |
Het |
| Lancl2 |
T |
A |
6: 57,689,977 (GRCm39) |
V61D |
probably benign |
Het |
| Lta4h |
A |
G |
10: 93,306,669 (GRCm39) |
D287G |
probably damaging |
Het |
| Maml1 |
A |
T |
11: 50,148,740 (GRCm39) |
L1000Q |
probably damaging |
Het |
| Or6c206 |
T |
C |
10: 129,097,646 (GRCm39) |
V272A |
probably benign |
Het |
| Or7a42 |
T |
C |
10: 78,791,129 (GRCm39) |
V30A |
probably benign |
Het |
| Osbpl9 |
G |
T |
4: 109,029,437 (GRCm39) |
|
probably benign |
Het |
| Oser1 |
T |
C |
2: 163,253,375 (GRCm39) |
T45A |
probably benign |
Het |
| Pip4p1 |
A |
G |
14: 51,168,112 (GRCm39) |
S41P |
probably damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,931,079 (GRCm39) |
S878R |
probably damaging |
Het |
| Prss43 |
T |
A |
9: 110,656,529 (GRCm39) |
V72D |
probably benign |
Het |
| Sdhb |
T |
A |
4: 140,706,379 (GRCm39) |
M272K |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Stx17 |
T |
A |
4: 48,158,870 (GRCm39) |
D83E |
probably damaging |
Het |
| Tas2r138 |
T |
C |
6: 40,589,410 (GRCm39) |
M279V |
possibly damaging |
Het |
| Tsku |
C |
T |
7: 98,002,205 (GRCm39) |
R42H |
probably damaging |
Het |
| Tyr |
A |
G |
7: 87,078,276 (GRCm39) |
L528P |
possibly damaging |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,448 (GRCm39) |
I597V |
probably benign |
Het |
| Wnt5b |
T |
C |
6: 119,417,272 (GRCm39) |
N198D |
probably damaging |
Het |
|
| Other mutations in Csrp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02493:Csrp1
|
APN |
1 |
135,678,801 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0308:Csrp1
|
UTSW |
1 |
135,673,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Csrp1
|
UTSW |
1 |
135,678,366 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4205:Csrp1
|
UTSW |
1 |
135,673,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4206:Csrp1
|
UTSW |
1 |
135,673,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5643:Csrp1
|
UTSW |
1 |
135,678,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6259:Csrp1
|
UTSW |
1 |
135,667,252 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7332:Csrp1
|
UTSW |
1 |
135,667,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7993:Csrp1
|
UTSW |
1 |
135,674,453 (GRCm39) |
splice site |
probably null |
|
|
R8424:Csrp1
|
UTSW |
1 |
135,667,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACCAGGGTACAGAGGTTTG -3'
(R):5'- GAAGCAAAGGTGTTTCGTCG -3'
Sequencing Primer
(F):5'- TACAGAGGTTTGAGGGAAACACC -3'
(R):5'- TCGGTGTCCATTCACGAACAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation