Incidental Mutation 'R7309:Csrp3'
ID 567443
Institutional Source Beutler Lab
Gene Symbol Csrp3
Ensembl Gene ENSMUSG00000030470
Gene Name cysteine and glycine-rich protein 3
Synonyms MLP, muscle LIM protein, CRP3
MMRRC Submission 045408-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.703) question?
Stock # R7309 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 48480146-48497781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48485317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 60 (V60A)
Ref Sequence ENSEMBL: ENSMUSP00000032658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032658] [ENSMUST00000167786] [ENSMUST00000208050]
AlphaFold P50462
Predicted Effect probably benign
Transcript: ENSMUST00000032658
AA Change: V60A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032658
Gene: ENSMUSG00000030470
AA Change: V60A

DomainStartEndE-ValueType
LIM 9 61 5.87e-12 SMART
LIM 119 171 3.96e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167786
AA Change: V60A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000129378
Gene: ENSMUSG00000030470
AA Change: V60A

DomainStartEndE-ValueType
LIM 9 61 5.87e-12 SMART
LIM 119 171 3.96e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000208050
AA Change: V60A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0706 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 94% (47/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A C 5: 109,884,819 (GRCm39) H346Q probably damaging Het
4932414N04Rik A T 2: 68,546,530 (GRCm39) I71L probably benign Het
Anapc1 A G 2: 128,516,604 (GRCm39) S377P probably damaging Het
Cldnd2 A G 7: 43,091,133 (GRCm39) T22A possibly damaging Het
Comp A T 8: 70,826,328 (GRCm39) probably null Het
Cop1 A G 1: 159,134,195 (GRCm39) K446E probably damaging Het
Cox18 T C 5: 90,362,917 (GRCm39) T314A possibly damaging Het
Dnah8 A T 17: 31,093,988 (GRCm39) Y4694F probably damaging Het
Dnm1l A G 16: 16,139,510 (GRCm39) Y493H probably damaging Het
Esf1 A T 2: 139,967,011 (GRCm39) probably null Het
Fam187a T A 11: 102,776,832 (GRCm39) V212E probably damaging Het
Fign A T 2: 63,810,301 (GRCm39) M323K possibly damaging Het
Foxf2 A G 13: 31,810,496 (GRCm39) K145R probably damaging Het
Fxyd5 T C 7: 30,734,829 (GRCm39) N133D probably benign Het
Hnrnpdl A T 5: 100,185,482 (GRCm39) L240* probably null Het
Kcna7 T G 7: 45,058,679 (GRCm39) F322C probably damaging Het
Kcnj9 A G 1: 172,153,825 (GRCm39) C100R probably damaging Het
Lrrc14b C A 13: 74,511,321 (GRCm39) C253F probably benign Het
Map3k11 T C 19: 5,740,486 (GRCm39) V71A probably damaging Het
Med13 C A 11: 86,181,888 (GRCm39) M1315I probably benign Het
Mettl24 T C 10: 40,686,496 (GRCm39) V291A probably benign Het
Miox G T 15: 89,220,252 (GRCm39) C148F probably damaging Het
Mpdz A T 4: 81,300,195 (GRCm39) probably null Het
Mthfsd G A 8: 121,835,070 (GRCm39) probably benign Het
Myh15 G A 16: 48,916,828 (GRCm39) A383T probably benign Het
Nlrc5 A G 8: 95,200,670 (GRCm39) H117R probably benign Het
Ntrk1 A T 3: 87,702,384 (GRCm39) M23K probably benign Het
Or14c45 T A 7: 86,176,349 (GRCm39) L128H probably damaging Het
Or4c3d T A 2: 89,881,801 (GRCm39) N289I probably damaging Het
Or8g21 T A 9: 38,906,576 (GRCm39) S52C probably damaging Het
Pkd1l3 A G 8: 110,374,893 (GRCm39) probably null Het
Plcz1 A T 6: 139,968,882 (GRCm39) D185E probably damaging Het
Plekhg5 C A 4: 152,196,985 (GRCm39) Q757K possibly damaging Het
Prr23a2 T A 9: 98,739,027 (GRCm39) D128E probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,118 (GRCm39) probably benign Het
Sgsm1 A T 5: 113,416,712 (GRCm39) probably null Het
Sh3bp5 C T 14: 31,100,246 (GRCm39) V221M probably benign Het
Slc25a27 A T 17: 43,975,083 (GRCm39) D59E probably benign Het
Slc35e1 G C 8: 73,246,358 (GRCm39) R25G unknown Het
Slc4a4 T C 5: 89,318,610 (GRCm39) V626A probably benign Het
Slfn5 T C 11: 82,847,529 (GRCm39) L138P probably damaging Het
Stat1 A G 1: 52,165,780 (GRCm39) probably null Het
Tnks2 G T 19: 36,829,936 (GRCm39) A206S probably damaging Het
Trav7-1 C A 14: 52,892,521 (GRCm39) Q25K probably benign Het
Ttn A G 2: 76,728,670 (GRCm39) M5470T unknown Het
Vps35 A T 8: 86,001,596 (GRCm39) D407E probably benign Het
Wdr90 T C 17: 26,079,676 (GRCm39) D190G probably benign Het
Wdr93 T A 7: 79,423,103 (GRCm39) F456I possibly damaging Het
Wdr95 A G 5: 149,529,758 (GRCm39) E675G probably benign Het
Other mutations in Csrp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Csrp3 APN 7 48,480,440 (GRCm39) missense probably benign 0.24
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
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
Predicted Primers PCR Primer
(F):5'- TGGCGAATCAACAATAGAGTCC -3'
(R):5'- GACAAATGCTCTGAACATTTCTGG -3'

Sequencing Primer
(F):5'- CCACTTCTAGAAAATGTTGCTATGGG -3'
(R):5'- GAATCACAGATGTGTTCATGGC -3'
Posted On 2019-06-26