Incidental Mutation 'R7829:Csrp2'
ID 602340
Institutional Source Beutler Lab
Gene Symbol Csrp2
Ensembl Gene ENSMUSG00000020186
Gene Name cysteine and glycine-rich protein 2
Synonyms SmLim, Crp2
MMRRC Submission 045883-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7829 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 110756037-110775375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 110771045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 50 (A50V)
Ref Sequence ENSEMBL: ENSMUSP00000151538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020403] [ENSMUST00000219188] [ENSMUST00000219502] [ENSMUST00000219840] [ENSMUST00000220054] [ENSMUST00000220409]
AlphaFold P97314
Predicted Effect probably damaging
Transcript: ENSMUST00000020403
AA Change: A50V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020403
Gene: ENSMUSG00000020186
AA Change: A50V

DomainStartEndE-ValueType
LIM 9 61 3.56e-11 SMART
LIM 118 170 7.39e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000219188
AA Change: A50V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000219502
AA Change: A50V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000219840
Predicted Effect probably damaging
Transcript: ENSMUST00000220054
AA Change: A50V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220409
AA Change: A50V

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.0936 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (61/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CSRP2 is a member of the CSRP family of genes, encoding a group of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. CRP2 contains two copies of the cysteine-rich amino acid sequence motif (LIM) with putative zinc-binding activity, and may be involved in regulating ordered cell growth. Other genes in the family include CSRP1 and CSRP3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for one null allele display increased neointima formation following arterial injury and increased migration of vascular smooth muscle cells in response to PDGF-BB. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C G 11: 58,770,823 (GRCm39) L102V not run Het
Abca12 A T 1: 71,331,580 (GRCm39) S1323R probably benign Het
Abcb1a T A 5: 8,748,623 (GRCm39) I318N probably benign Het
Adam10 A T 9: 70,674,209 (GRCm39) K524* probably null Het
Adamts3 C T 5: 90,009,349 (GRCm39) G105R probably damaging Het
Adcy7 T C 8: 89,042,387 (GRCm39) I418T probably damaging Het
Alg9 T A 9: 50,699,471 (GRCm39) F165L probably damaging Het
Anapc2 G T 2: 25,167,753 (GRCm39) R440L probably damaging Het
Arhgef17 A T 7: 100,526,052 (GRCm39) H1876Q probably benign Het
Armc2 G A 10: 41,802,856 (GRCm39) R606C probably benign Het
Cd163 T C 6: 124,281,738 (GRCm39) S14P probably benign Het
Cfap74 T C 4: 155,513,694 (GRCm39) V502A Het
Copb2 T C 9: 98,470,147 (GRCm39) I891T probably damaging Het
Creb3 T C 4: 43,566,322 (GRCm39) L276P probably damaging Het
Crnkl1 T A 2: 145,773,269 (GRCm39) M126L probably benign Het
Ctsd A G 7: 141,930,879 (GRCm39) C284R probably damaging Het
Dll3 G A 7: 27,994,075 (GRCm39) A454V probably damaging Het
Dmbx1 C T 4: 115,781,104 (GRCm39) probably benign Het
Dnah6 C A 6: 73,104,902 (GRCm39) E1896* probably null Het
Dtwd1 A G 2: 126,006,679 (GRCm39) T234A probably damaging Het
Fhod3 G A 18: 25,248,947 (GRCm39) probably null Het
Gm10549 C A 18: 33,597,463 (GRCm39) probably benign Het
Gm7298 T C 6: 121,742,297 (GRCm39) I495T probably damaging Het
Grhl3 T C 4: 135,288,532 (GRCm39) N51S probably damaging Het
Gtpbp4 A T 13: 9,035,366 (GRCm39) probably null Het
Hsd17b14 A C 7: 45,216,209 (GRCm39) S260R probably benign Het
Insig2 A T 1: 121,235,058 (GRCm39) probably null Het
Itgae T A 11: 73,029,618 (GRCm39) V1046D probably benign Het
Kif1b A T 4: 149,305,447 (GRCm39) probably null Het
Kmo A G 1: 175,478,225 (GRCm39) probably null Het
Loxhd1 A G 18: 77,496,483 (GRCm39) N29S probably damaging Het
Lrp1b A T 2: 40,793,460 (GRCm39) C2484* probably null Het
Lrrc23 T A 6: 124,747,711 (GRCm39) M293L probably benign Het
Mphosph6 T C 8: 118,525,807 (GRCm39) D47G probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naglu G A 11: 100,967,436 (GRCm39) R462H probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nlrc5 T C 8: 95,248,397 (GRCm39) S1711P probably damaging Het
Or10al7 T C 17: 38,366,220 (GRCm39) Y79C possibly damaging Het
Or1o2 T C 17: 37,543,201 (GRCm39) E20G probably benign Het
Or6k2 A T 1: 173,986,425 (GRCm39) I29F probably benign Het
Osbpl6 G A 2: 76,423,731 (GRCm39) A857T probably damaging Het
Oscp1 C A 4: 125,982,201 (GRCm39) D380E probably benign Het
Pdzd7 C A 19: 45,027,678 (GRCm39) R265S probably benign Het
Piezo2 A T 18: 63,246,947 (GRCm39) probably null Het
Pigc G A 1: 161,798,033 (GRCm39) R5H probably benign Het
Pla2g5 C A 4: 138,531,845 (GRCm39) R53L probably benign Het
Rbm6 T C 9: 107,729,905 (GRCm39) R248G probably damaging Het
Rev1 A T 1: 38,095,526 (GRCm39) L877Q probably damaging Het
Rpap3 A T 15: 97,579,589 (GRCm39) N474K probably benign Het
Ryr2 T A 13: 11,842,493 (GRCm39) E468V possibly damaging Het
Samd9l A C 6: 3,374,749 (GRCm39) D837E probably benign Het
Sipa1l2 T C 8: 126,178,727 (GRCm39) N1124S probably damaging Het
Slc11a2 G A 15: 100,307,142 (GRCm39) A83V possibly damaging Het
Slfn14 A G 11: 83,172,643 (GRCm39) probably null Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Suclg1 A G 6: 73,252,226 (GRCm39) probably null Het
Syne1 A C 10: 5,292,293 (GRCm39) V1325G probably damaging Het
Tmprss15 T C 16: 78,784,538 (GRCm39) S706G probably benign Het
Tox2 T C 2: 163,162,296 (GRCm39) Y389H probably damaging Het
Trappc10 T C 10: 78,034,909 (GRCm39) T946A probably benign Het
Ubqln1 C T 13: 58,325,719 (GRCm39) E546K probably damaging Het
Zfp106 A G 2: 120,354,538 (GRCm39) V1411A possibly damaging Het
Zkscan5 A T 5: 145,155,513 (GRCm39) K395* probably null Het
Other mutations in Csrp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0031:Csrp2 UTSW 10 110,774,601 (GRCm39) missense probably benign
R1531:Csrp2 UTSW 10 110,771,066 (GRCm39) missense probably benign 0.16
R1964:Csrp2 UTSW 10 110,767,894 (GRCm39) missense probably benign 0.19
R3703:Csrp2 UTSW 10 110,773,735 (GRCm39) splice site probably benign
R6120:Csrp2 UTSW 10 110,775,140 (GRCm39) missense probably benign 0.01
R6290:Csrp2 UTSW 10 110,767,844 (GRCm39) missense probably damaging 1.00
R7660:Csrp2 UTSW 10 110,773,624 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TAAACTGTGGGACCGAGATAGC -3'
(R):5'- ACTAAATATGCAGGCTCCTGG -3'

Sequencing Primer
(F):5'- GGACCGAGATAGCCTTTGTC -3'
(R):5'- TGAGCGACAGGAGCTGTTCTAC -3'
Posted On 2019-12-03