Incidental Mutation 'IGL02493:Csrp1'
ID 295735
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csrp1
Ensembl Gene ENSMUSG00000026421
Gene Name cysteine and glycine-rich protein 1
Synonyms CRP1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.316) question?
Stock # IGL02493
Quality Score
Status
Chromosome 1
Chromosomal Location 135647799-135679970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 135678801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 175 (F175L)
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: F175L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027677
Gene: ENSMUSG00000026421
AA Change: F175L

DomainStartEndE-ValueType
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: F175L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000095169
Gene: ENSMUSG00000026421
AA Change: F175L

DomainStartEndE-ValueType
LIM 9 61 1.49e-13 SMART
LIM 118 170 2.57e-17 SMART
low complexity region 172 188 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T G 15: 59,888,312 (GRCm39) S43R probably benign Het
Afap1l1 G T 18: 61,870,594 (GRCm39) Q595K possibly damaging Het
Alpk2 T C 18: 65,483,402 (GRCm39) E202G probably benign Het
Ap3b1 T C 13: 94,540,528 (GRCm39) V150A probably damaging Het
Bcas3 T C 11: 85,386,708 (GRCm39) I381T probably damaging Het
Best3 A T 10: 116,860,506 (GRCm39) R589W possibly damaging Het
Birc6 A G 17: 74,959,054 (GRCm39) probably benign Het
Clcn4 A C 7: 7,287,243 (GRCm39) D728E probably damaging Het
Commd2 C A 3: 57,559,080 (GRCm39) probably benign Het
Eif3c A T 7: 126,158,073 (GRCm39) N294K probably damaging Het
Fam184a A G 10: 53,570,789 (GRCm39) probably null Het
Fndc1 G T 17: 7,994,377 (GRCm39) P297Q unknown Het
Galnt13 A G 2: 54,770,149 (GRCm39) I314V probably benign Het
Gimap6 T A 6: 48,679,603 (GRCm39) K144N probably damaging Het
Gm10188 A T 1: 132,157,143 (GRCm39) C74* probably null Het
Gpatch2 C T 1: 186,965,325 (GRCm39) probably benign Het
Hace1 T A 10: 45,464,515 (GRCm39) M39K probably damaging Het
Has2 G T 15: 56,531,320 (GRCm39) T465K probably damaging Het
Homer3 T A 8: 70,742,721 (GRCm39) V144D probably benign Het
Ift140 A T 17: 25,306,898 (GRCm39) K878* probably null Het
Ikbip A G 10: 90,932,456 (GRCm39) N367D probably damaging Het
Immt T C 6: 71,821,700 (GRCm39) probably benign Het
Isca1 A G 13: 59,910,596 (GRCm39) V32A possibly damaging Het
Kcnu1 T A 8: 26,427,548 (GRCm39) N288K possibly damaging Het
Kmt2b C T 7: 30,268,936 (GRCm39) probably benign Het
Lrguk T A 6: 34,106,127 (GRCm39) D717E probably benign Het
Lrp1 C T 10: 127,417,647 (GRCm39) G1037E probably damaging Het
Man2a2 T A 7: 80,019,363 (GRCm39) Q37L possibly damaging Het
Msh4 C T 3: 153,583,545 (GRCm39) probably null Het
Mtf1 C T 4: 124,715,112 (GRCm39) R246W probably damaging Het
Mvb12b A G 2: 33,730,221 (GRCm39) S57P probably benign Het
Nat8f5 A G 6: 85,794,544 (GRCm39) F139L probably benign Het
Npepps A G 11: 97,128,985 (GRCm39) F400L probably damaging Het
Ntsr2 T A 12: 16,708,390 (GRCm39) S248T possibly damaging Het
Oplah G A 15: 76,185,155 (GRCm39) R853* probably null Het
Or5b98 T C 19: 12,931,138 (GRCm39) F62L probably benign Het
Or5p57 A T 7: 107,665,012 (GRCm39) M331K possibly damaging Het
Plekhh2 G A 17: 84,914,391 (GRCm39) probably null Het
Pskh1 G A 8: 106,656,388 (GRCm39) V355I probably benign Het
Rab31 A T 17: 66,024,547 (GRCm39) M44K possibly damaging Het
Slc5a4b A G 10: 75,910,849 (GRCm39) V329A probably damaging Het
Slc5a7 A G 17: 54,600,908 (GRCm39) Y76H probably damaging Het
Trappc14 T C 5: 138,261,432 (GRCm39) probably null Het
Treh A T 9: 44,594,246 (GRCm39) D164V possibly damaging Het
Trim6 A G 7: 103,881,847 (GRCm39) Y366C probably benign Het
Ubr7 T C 12: 102,734,479 (GRCm39) V251A probably benign Het
Vmn1r35 T A 6: 66,656,463 (GRCm39) N69I possibly damaging Het
Zan A G 5: 137,433,968 (GRCm39) L2255P unknown Het
Other mutations in Csrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4202:Csrp1 UTSW 1 135,673,065 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16