Incidental Mutation 'R4205:Csrp1'
ID 318855
Institutional Source Beutler Lab
Gene Symbol Csrp1
Ensembl Gene ENSMUSG00000026421
Gene Name cysteine and glycine-rich protein 1
Synonyms CRP1
MMRRC Submission 041034-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.261) question?
Stock # R4205 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 135647799-135679970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 135673065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 61 (C61G)
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: C61G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027677
Gene: ENSMUSG00000026421
AA Change: C61G

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: C61G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095169
Gene: ENSMUSG00000026421
AA Change: C61G

DomainStartEndE-ValueType
LIM 9 61 1.49e-13 SMART
LIM 118 170 2.57e-17 SMART
low complexity region 172 188 N/A INTRINSIC
Meta Mutation Damage Score 0.9664 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 100% (40/40)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acte1 G T 7: 143,422,964 (GRCm39) V17L probably damaging Het
Akap13 T C 7: 75,260,667 (GRCm39) I294T probably benign Het
Alpk2 G A 18: 65,438,282 (GRCm39) T1037M possibly damaging Het
Ano7 A G 1: 93,308,200 (GRCm39) D77G probably benign Het
Arhgef5 A G 6: 43,250,766 (GRCm39) T506A possibly damaging Het
Bclaf3 T A X: 158,336,829 (GRCm39) S419T probably damaging Het
Cd101 A C 3: 100,926,001 (GRCm39) D239E probably damaging Het
Cdhr1 G T 14: 36,802,461 (GRCm39) F667L probably benign Het
Dmrtc2 C T 7: 24,575,231 (GRCm39) Q275* probably null Het
Dsg1b A T 18: 20,541,878 (GRCm39) D795V probably damaging Het
Elavl1 A G 8: 4,339,851 (GRCm39) W244R probably damaging Het
Emilin1 T C 5: 31,077,243 (GRCm39) probably benign Het
Fam20c T G 5: 138,741,431 (GRCm39) L14R probably damaging Het
Glt1d1 G T 5: 127,766,935 (GRCm39) R217L probably benign Het
Klk14 G A 7: 43,344,358 (GRCm39) R223H probably benign Het
Lrrc26 G T 2: 25,180,170 (GRCm39) C57F probably damaging Het
Maml1 A T 11: 50,148,740 (GRCm39) L1000Q probably damaging Het
Map2 A G 1: 66,464,449 (GRCm39) Y125C probably damaging Het
Mapk1 T C 16: 16,856,321 (GRCm39) probably benign Het
Mocos G A 18: 24,799,248 (GRCm39) V161M possibly damaging Het
Or4c108 A G 2: 88,803,482 (GRCm39) V251A probably benign Het
Pcdhgb5 A G 18: 37,865,716 (GRCm39) N504D possibly damaging Het
Pcx G A 19: 4,669,194 (GRCm39) V731M possibly damaging Het
Ppfibp1 C A 6: 146,931,079 (GRCm39) S878R probably damaging Het
Ptprh C A 7: 4,600,991 (GRCm39) G129W probably damaging Het
Rasal1 T C 5: 120,797,628 (GRCm39) V120A probably benign Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Rtn4rl1 A T 11: 75,156,809 (GRCm39) I414F probably damaging Het
Rtn4rl1 C A 11: 75,156,818 (GRCm39) P417T probably damaging Het
Shank3 T C 15: 89,387,521 (GRCm39) L230P probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Taar9 C T 10: 23,984,477 (GRCm39) R319H possibly damaging Het
Tbck T A 3: 132,543,789 (GRCm39) I880N probably benign Het
Tsku C T 7: 98,002,205 (GRCm39) R42H probably damaging Het
Tyr A G 7: 87,078,276 (GRCm39) L528P possibly damaging Het
Zc3h13 A G 14: 75,565,041 (GRCm39) D718G unknown Het
Other mutations in Csrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02493:Csrp1 APN 1 135,678,801 (GRCm39) missense probably damaging 0.96
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
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
Predicted Primers PCR Primer
(F):5'- CTACCAGGGTACAGAGGTTTGAG -3'
(R):5'- GAAGCAAAGGTGTTTCGTCGG -3'

Sequencing Primer
(F):5'- TACAGAGGTTTGAGGGAAACACC -3'
(R):5'- TCGGTGTCCATTCACGAACAG -3'
Posted On 2015-06-10