Incidental Mutation 'IGL02900:Cnn3'
ID 363568
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cnn3
Ensembl Gene ENSMUSG00000053931
Gene Name calponin 3, acidic
Synonyms 1600014M03Rik, Calpo3
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # IGL02900
Quality Score
Status
Chromosome 3
Chromosomal Location 121220190-121251854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121245143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 23 (T23S)
Ref Sequence ENSEMBL: ENSMUSP00000143186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029773] [ENSMUST00000197135] [ENSMUST00000198393]
AlphaFold Q9DAW9
Predicted Effect probably benign
Transcript: ENSMUST00000029773
AA Change: T120S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000029773
Gene: ENSMUSG00000053931
AA Change: T120S

DomainStartEndE-ValueType
CH 28 125 3.92e-27 SMART
Pfam:Calponin 164 188 1.1e-19 PFAM
Pfam:Calponin 204 228 7.4e-17 PFAM
Pfam:Calponin 243 267 1.8e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196671
Predicted Effect probably benign
Transcript: ENSMUST00000197135
SMART Domains Protein: ENSMUSP00000142526
Gene: ENSMUSG00000053931

DomainStartEndE-ValueType
CH 28 120 8.6e-10 SMART
Pfam:Calponin 158 183 1e-10 PFAM
Pfam:Calponin 197 222 9.6e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198393
AA Change: T23S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000143186
Gene: ENSMUSG00000053931
AA Change: T23S

DomainStartEndE-ValueType
Blast:CH 1 28 7e-12 BLAST
SCOP:d1h67a_ 1 35 9e-9 SMART
PDB:1WYN|A 1 53 3e-21 PDB
Pfam:Calponin 67 92 1.2e-14 PFAM
Pfam:Calponin 107 132 3.8e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199188
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 protein with a markedly acidic C terminus; the basic N-terminus is highly homologous to the N-terminus of a related gene, CNN1. Members of the CNN gene family all contain similar tandemly repeated motifs. This encoded protein is associated with the cytoskeleton but is not involved in contraction. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe exencephaly, neuronal tissue overgrowth and die immediately postnatal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik G T 11: 99,728,774 (GRCm39) T23N possibly damaging Het
Angpt4 T A 2: 151,753,391 (GRCm39) V47E probably damaging Het
Arhgef11 G A 3: 87,640,467 (GRCm39) R1208Q probably benign Het
Calb1 T C 4: 15,895,695 (GRCm39) probably benign Het
Capn11 G T 17: 45,941,540 (GRCm39) probably null Het
Carmil2 T A 8: 106,422,151 (GRCm39) I1140N probably damaging Het
Colgalt2 C T 1: 152,384,481 (GRCm39) T607M probably damaging Het
Cyp46a1 T G 12: 108,309,350 (GRCm39) V93G probably damaging Het
Dcaf6 T C 1: 165,227,344 (GRCm39) Y261C probably damaging Het
Dnah10 A G 5: 124,878,886 (GRCm39) Y2715C probably damaging Het
Dsg1a G T 18: 20,461,713 (GRCm39) probably benign Het
Eml4 C T 17: 83,785,421 (GRCm39) P862L probably benign Het
Gm5414 T C 15: 101,536,242 (GRCm39) T128A probably damaging Het
Gp9 G T 6: 87,756,415 (GRCm39) W143C probably damaging Het
Hipk2 T C 6: 38,706,879 (GRCm39) I670V probably damaging Het
Hoxa10 T C 6: 52,209,541 (GRCm39) K77R possibly damaging Het
Kcna1 T G 6: 126,620,057 (GRCm39) S88R probably damaging Het
Kif1b A T 4: 149,265,266 (GRCm39) S1758T possibly damaging Het
Klk1b11 A G 7: 43,427,837 (GRCm39) T182A probably damaging Het
Lrp1 G A 10: 127,412,516 (GRCm39) probably benign Het
Magi1 A G 6: 93,663,854 (GRCm39) S991P probably damaging Het
Mast4 T A 13: 102,872,184 (GRCm39) T2203S probably benign Het
Mxra8 A G 4: 155,925,576 (GRCm39) E95G possibly damaging Het
Mxra8 A G 4: 155,925,668 (GRCm39) probably null Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or14j9 A G 17: 37,874,740 (GRCm39) I154T possibly damaging Het
Or2f2 T A 6: 42,767,808 (GRCm39) Y278* probably null Het
Or8g2b T A 9: 39,751,108 (GRCm39) I126N probably damaging Het
Or8g4 A T 9: 39,661,901 (GRCm39) H73L probably benign Het
Pbx4 A G 8: 70,319,216 (GRCm39) E249G probably damaging Het
Pkd1l2 T C 8: 117,750,830 (GRCm39) E1727G probably benign Het
Plec T G 15: 76,070,414 (GRCm39) D932A probably damaging Het
Pramel22 A T 4: 143,382,085 (GRCm39) F204I possibly damaging Het
Raph1 T C 1: 60,542,022 (GRCm39) D364G probably damaging Het
Rps29 T A 12: 69,205,825 (GRCm39) H3L probably damaging Het
Sema4c A T 1: 36,589,826 (GRCm39) C509* probably null Het
Srgap2 A T 1: 131,339,534 (GRCm39) probably benign Het
Stam2 A T 2: 52,598,209 (GRCm39) D243E probably benign Het
Stxbp4 A G 11: 90,497,861 (GRCm39) L146P probably benign Het
Teddm3 G T 16: 20,971,900 (GRCm39) T223K probably benign Het
Tfap2d A T 1: 19,189,474 (GRCm39) N285Y probably damaging Het
Tmprss3 T A 17: 31,403,553 (GRCm39) D416V probably damaging Het
Vmn1r71 T A 7: 10,482,601 (GRCm39) Y29F probably benign Het
Vmn2r84 T C 10: 130,223,861 (GRCm39) probably benign Het
Washc2 G T 6: 116,204,435 (GRCm39) D362Y probably damaging Het
Wbp2nl T C 15: 82,198,035 (GRCm39) S191P probably benign Het
Zfp608 T C 18: 55,079,865 (GRCm39) T307A probably damaging Het
Zfp970 T C 2: 177,166,610 (GRCm39) probably benign Het
Other mutations in Cnn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB009:Cnn3 UTSW 3 121,245,078 (GRCm39) missense probably benign 0.15
BB019:Cnn3 UTSW 3 121,245,078 (GRCm39) missense probably benign 0.15
R0711:Cnn3 UTSW 3 121,243,633 (GRCm39) missense probably benign 0.00
R0811:Cnn3 UTSW 3 121,248,600 (GRCm39) missense probably damaging 1.00
R0812:Cnn3 UTSW 3 121,248,600 (GRCm39) missense probably damaging 1.00
R1368:Cnn3 UTSW 3 121,250,786 (GRCm39) missense probably benign 0.01
R1567:Cnn3 UTSW 3 121,243,607 (GRCm39) nonsense probably null
R1675:Cnn3 UTSW 3 121,250,818 (GRCm39) nonsense probably null
R2132:Cnn3 UTSW 3 121,245,584 (GRCm39) missense probably damaging 0.97
R2851:Cnn3 UTSW 3 121,243,702 (GRCm39) start gained probably benign
R5850:Cnn3 UTSW 3 121,245,577 (GRCm39) missense probably damaging 0.99
R6936:Cnn3 UTSW 3 121,243,702 (GRCm39) start gained probably benign
R7196:Cnn3 UTSW 3 121,248,437 (GRCm39) splice site probably null
R7851:Cnn3 UTSW 3 121,250,992 (GRCm39) missense possibly damaging 0.85
R7866:Cnn3 UTSW 3 121,245,042 (GRCm39) missense probably benign 0.16
R7867:Cnn3 UTSW 3 121,248,704 (GRCm39) missense probably benign 0.27
R7932:Cnn3 UTSW 3 121,245,078 (GRCm39) missense probably benign 0.15
R8139:Cnn3 UTSW 3 121,248,718 (GRCm39) missense probably damaging 1.00
R8320:Cnn3 UTSW 3 121,243,635 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18