Incidental Mutation 'R0031:Csrp2'
List |< first << previous [record 58 of 291] next >> last >|
ID15296
Institutional Source Beutler Lab
Gene Symbol Csrp2
Ensembl Gene ENSMUSG00000020186
Gene Namecysteine and glycine-rich protein 2
SynonymsSmLim, Crp2
MMRRC Submission 038325-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0031 (G1)
Quality Score
Status Validated
Chromosome10
Chromosomal Location110919789-110939622 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 110938740 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 172 (S172L)
Ref Sequence ENSEMBL: ENSMUSP00000151913 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020403] [ENSMUST00000041723] [ENSMUST00000219188] [ENSMUST00000219502] [ENSMUST00000220054] [ENSMUST00000220409]
Predicted Effect probably benign
Transcript: ENSMUST00000020403
SMART Domains Protein: ENSMUSP00000020403
Gene: ENSMUSG00000020186

DomainStartEndE-ValueType
LIM 9 61 3.56e-11 SMART
LIM 118 170 7.39e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000041723
SMART Domains Protein: ENSMUSP00000043279
Gene: ENSMUSG00000035798

DomainStartEndE-ValueType
Blast:ANK 57 85 2e-8 BLAST
ANK 89 118 6.71e-2 SMART
ANK 123 152 1.99e-4 SMART
ANK 156 185 1.61e-4 SMART
ANK 189 219 1.9e-1 SMART
ANK 224 253 1.53e-5 SMART
Blast:ANK 257 286 2e-11 BLAST
transmembrane domain 305 323 N/A INTRINSIC
transmembrane domain 328 350 N/A INTRINSIC
transmembrane domain 357 379 N/A INTRINSIC
transmembrane domain 384 403 N/A INTRINSIC
Pfam:zf-DHHC 434 570 1e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217698
Predicted Effect probably benign
Transcript: ENSMUST00000219188
Predicted Effect probably benign
Transcript: ENSMUST00000219502
Predicted Effect probably benign
Transcript: ENSMUST00000220054
Predicted Effect probably benign
Transcript: ENSMUST00000220247
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220301
Predicted Effect probably benign
Transcript: ENSMUST00000220409
AA Change: S172L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 81.0%
  • 3x: 73.5%
  • 10x: 52.2%
  • 20x: 32.1%
Validation Efficiency 93% (95/102)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A T 4: 42,973,712 K1015M probably damaging Het
Abcb11 G A 2: 69,285,308 R571C probably damaging Het
Agr3 T C 12: 35,947,591 M100T probably benign Het
Ankrd7 T A 6: 18,870,008 Y253* probably null Het
Atp2c2 A T 8: 119,749,062 T565S probably benign Het
C330027C09Rik C T 16: 49,017,373 S812F probably benign Het
Ccdc88b G T 19: 6,853,783 S597Y possibly damaging Het
Celsr2 T C 3: 108,413,063 N811S probably damaging Het
Cep170 A T 1: 176,756,091 D907E probably damaging Het
Clstn1 G A 4: 149,634,796 V361M probably damaging Het
Cmss1 T G 16: 57,311,249 probably null Het
Cobl T C 11: 12,254,945 T579A probably benign Het
Col1a2 G A 6: 4,518,822 probably benign Het
Fip1l1 T C 5: 74,557,109 S235P probably damaging Het
Gbgt1 T A 2: 28,498,450 probably benign Het
Gml2 T C 15: 74,824,276 I173T probably benign Het
Gucy2c T A 6: 136,697,999 I1005F probably damaging Het
Irak3 T A 10: 120,176,320 K88* probably null Het
Klc1 T C 12: 111,777,033 Y265H probably damaging Het
Lamb1 G A 12: 31,301,156 V754I probably benign Het
Lrguk A T 6: 34,043,496 Q58H probably damaging Het
Lyst A G 13: 13,708,156 D2902G probably benign Het
Mtpap T A 18: 4,383,244 I207N probably damaging Het
Ncdn A T 4: 126,750,108 probably null Het
Nup160 A G 2: 90,717,587 probably null Het
Ormdl1 A G 1: 53,299,159 probably benign Het
Pde5a A G 3: 122,803,055 M432V probably benign Het
Pikfyve T A 1: 65,215,929 probably benign Het
Plcb2 A G 2: 118,715,461 V581A probably benign Het
Plpp6 T A 19: 28,964,843 N281K probably benign Het
Pwp1 T C 10: 85,885,896 I422T probably benign Het
Rims1 T C 1: 22,296,879 N1199S probably damaging Het
Sema3c T C 5: 17,694,728 L406P probably damaging Het
Senp6 C T 9: 80,126,243 P84L probably damaging Het
Setx A G 2: 29,176,929 I2361V probably benign Het
Slc25a12 C T 2: 71,333,614 V106M possibly damaging Het
Slc3a1 A G 17: 85,032,846 Y232C probably damaging Het
Taf1c A T 8: 119,599,090 C678S probably benign Het
Tcp11l2 G T 10: 84,591,140 C156F probably damaging Het
Tmem62 A G 2: 120,999,113 T316A probably benign Het
Ulk4 A G 9: 121,272,982 I10T probably damaging Het
Vps54 T C 11: 21,312,899 I824T probably damaging Het
Wdfy3 A T 5: 101,889,295 V2042E probably damaging Het
Wfdc6b A T 2: 164,613,859 E36V probably damaging Het
Xpc C T 6: 91,491,226 A860T probably benign Het
Other mutations in Csrp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1531:Csrp2 UTSW 10 110935205 missense probably benign 0.16
R1964:Csrp2 UTSW 10 110932033 missense probably benign 0.19
R3703:Csrp2 UTSW 10 110937874 splice site probably benign
R6120:Csrp2 UTSW 10 110939279 missense probably benign 0.01
R6290:Csrp2 UTSW 10 110931983 missense probably damaging 1.00
Posted On2012-12-17