Incidental Mutation 'R6472:Csrp3'
ID 516384
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 044605-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.703) question?
Stock # R6472 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 48480146-48497781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 48485356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 47 (T47I)
Ref Sequence ENSEMBL: ENSMUSP00000129378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032658] [ENSMUST00000167786] [ENSMUST00000208050]
AlphaFold P50462
Predicted Effect possibly damaging
Transcript: ENSMUST00000032658
AA Change: T47I

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032658
Gene: ENSMUSG00000030470
AA Change: T47I

DomainStartEndE-ValueType
LIM 9 61 5.87e-12 SMART
LIM 119 171 3.96e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000167786
AA Change: T47I

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129378
Gene: ENSMUSG00000030470
AA Change: T47I

DomainStartEndE-ValueType
LIM 9 61 5.87e-12 SMART
LIM 119 171 3.96e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000208050
AA Change: T47I

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208146
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.3%
  • 20x: 94.4%
Validation Efficiency 100% (30/30)
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik A T 16: 90,852,891 (GRCm39) S82T probably benign Het
Abca1 A G 4: 53,085,991 (GRCm39) probably null Het
Ascc3 T C 10: 50,596,783 (GRCm39) Y1238H probably benign Het
Ccn3 A T 15: 54,612,668 (GRCm39) T226S possibly damaging Het
Cdadc1 T C 14: 59,823,491 (GRCm39) T334A probably damaging Het
Cyp2f2 G A 7: 26,828,649 (GRCm39) R173H probably damaging Het
Fads6 T C 11: 115,176,962 (GRCm39) T165A probably damaging Het
Fbxo30 T C 10: 11,166,975 (GRCm39) S566P probably damaging Het
Gsn A G 2: 35,180,463 (GRCm39) probably null Het
Heatr1 A G 13: 12,449,111 (GRCm39) D1897G probably benign Het
Il2ra G A 2: 11,686,780 (GRCm39) E204K possibly damaging Het
Kif16b G T 2: 142,541,868 (GRCm39) probably benign Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Odr4 C T 1: 150,257,273 (GRCm39) D230N probably benign Het
Or2a20 A G 6: 43,194,293 (GRCm39) I149V probably benign Het
Or2aa1 G A 11: 59,480,582 (GRCm39) T111I probably benign Het
Or7g22 T A 9: 19,048,711 (GRCm39) C141S probably damaging Het
Or8k41 A T 2: 86,313,534 (GRCm39) L184* probably null Het
Pappa2 T C 1: 158,662,369 (GRCm39) D1202G probably damaging Het
Pcp4l1 A T 1: 171,002,004 (GRCm39) I52N possibly damaging Het
Sis C T 3: 72,846,067 (GRCm39) W665* probably null Het
Smap2 GACTCTAC GAC 4: 120,830,282 (GRCm39) probably benign Het
Snrpb2 A G 2: 142,910,221 (GRCm39) K93R possibly damaging Het
Syt10 T G 15: 89,698,761 (GRCm39) E194D probably benign Het
Tmem163 A C 1: 127,423,471 (GRCm39) F264V probably benign Het
Trav3-1 G T 14: 52,818,507 (GRCm39) E60D possibly damaging Het
Vmn1r237 G A 17: 21,534,616 (GRCm39) S113N probably benign Het
Vwa8 T C 14: 79,246,610 (GRCm39) S651P possibly damaging Het
Wnt3 G A 11: 103,699,100 (GRCm39) V69I possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- TCTCCCACTTCTAGAAAATGTTGC -3'
(R):5'- GTGTCAAAATGAGTGACTCAGG -3'

Sequencing Primer
(F):5'- CCACTTCTAGAAAATGTTGCTATGGG -3'
(R):5'- TGACTCAGGACAAATGCTCTG -3'
Posted On 2018-05-21