Incidental Mutation 'R6936:Cnn3'
ID 540283
Institutional Source Beutler Lab
Gene Symbol Cnn3
Ensembl Gene ENSMUSG00000053931
Gene Name calponin 3, acidic
Synonyms 1600014M03Rik, Calpo3
MMRRC Submission 045050-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # R6936 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 121220190-121251854 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to T at 121243702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029773] [ENSMUST00000197135] [ENSMUST00000198393]
AlphaFold Q9DAW9
Predicted Effect silent
Transcript: ENSMUST00000029773
SMART Domains Protein: ENSMUSP00000029773
Gene: ENSMUSG00000053931

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 silent
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
SMART Domains Protein: ENSMUSP00000143186
Gene: ENSMUSG00000053931

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
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.7%
Validation Efficiency 98% (48/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,248,568 (GRCm39) I2772F probably damaging Het
Adam1a A G 5: 121,657,425 (GRCm39) C623R probably damaging Het
Ak2 T C 4: 128,893,005 (GRCm39) S55P probably damaging Het
Ak4 C T 4: 101,304,456 (GRCm39) A82V probably benign Het
Arhgap10 A T 8: 78,037,376 (GRCm39) C617* probably null Het
Art1 A T 7: 101,755,977 (GRCm39) D56V possibly damaging Het
Ascc3 A G 10: 50,606,057 (GRCm39) D1392G probably damaging Het
Bbs5 T C 2: 69,484,698 (GRCm39) S123P probably damaging Het
Cabin1 A T 10: 75,551,592 (GRCm39) probably null Het
Carmil3 G A 14: 55,739,018 (GRCm39) E891K probably benign Het
Cbfa2t3 C G 8: 123,374,478 (GRCm39) R89P probably damaging Het
Ccdc157 A G 11: 4,094,030 (GRCm39) S534P probably benign Het
Cep72 A T 13: 74,188,206 (GRCm39) I229N probably damaging Het
Cyp2c70 A G 19: 40,156,007 (GRCm39) V181A probably damaging Het
Cyp2d26 C T 15: 82,676,741 (GRCm39) D202N probably benign Het
Dbh A G 2: 27,062,809 (GRCm39) K343E probably benign Het
Dlx5 A G 6: 6,879,585 (GRCm39) Y161H probably damaging Het
Dnah5 A T 15: 28,409,414 (GRCm39) I3611F probably damaging Het
Egf A C 3: 129,474,853 (GRCm39) F563V possibly damaging Het
Enpp1 T C 10: 24,527,237 (GRCm39) H650R probably benign Het
Exoc6 A G 19: 37,560,311 (GRCm39) I109M probably benign Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fgg C T 3: 82,915,727 (GRCm39) S56F possibly damaging Het
Fras1 A G 5: 96,916,211 (GRCm39) D3415G possibly damaging Het
Ghsr A G 3: 27,426,474 (GRCm39) I177V probably benign Het
Gm1979 A T 5: 26,207,028 (GRCm39) H62Q probably benign Het
Gpatch2 A G 1: 186,965,433 (GRCm39) D313G probably benign Het
Gtf2i C T 5: 134,271,639 (GRCm39) E823K probably damaging Het
Hook2 C A 8: 85,729,627 (GRCm39) T689N probably benign Het
Hrnr A T 3: 93,239,667 (GRCm39) N3302Y unknown Het
Igkv7-33 G A 6: 70,035,785 (GRCm39) P66S possibly damaging Het
Kcnh2 T A 5: 24,529,337 (GRCm39) I800F probably damaging Het
Mcmbp G A 7: 128,326,920 (GRCm39) Q21* probably null Het
Mmp21 T C 7: 133,280,704 (GRCm39) K89E probably benign Het
Or4b13 A G 2: 90,082,678 (GRCm39) V218A probably benign Het
Or52r1c A T 7: 102,735,021 (GRCm39) I94F probably damaging Het
Pcdhga4 A G 18: 37,820,458 (GRCm39) D669G possibly damaging Het
Ralgapa1 T C 12: 55,832,997 (GRCm39) T169A probably damaging Het
Sec31a T C 5: 100,540,369 (GRCm39) N35S probably benign Het
Serpinb5 A T 1: 106,798,148 (GRCm39) T46S probably benign Het
Svs5 A G 2: 164,079,548 (GRCm39) S120P possibly damaging Het
Tbpl2 T C 2: 23,984,953 (GRCm39) T64A probably benign Het
Tecpr2 T A 12: 110,911,297 (GRCm39) H1111Q possibly damaging Het
Tm9sf3 A G 19: 41,211,638 (GRCm39) F402L probably benign Het
Tmem120b T G 5: 123,254,287 (GRCm39) V287G possibly damaging Het
Tmem150c T C 5: 100,231,577 (GRCm39) T133A possibly damaging Het
Ubqln3 A T 7: 103,791,517 (GRCm39) V191D probably damaging Het
Ubr2 T C 17: 47,283,957 (GRCm39) E564G possibly damaging Het
Zkscan1 T C 5: 138,091,567 (GRCm39) V100A probably damaging Het
Other mutations in Cnn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02900:Cnn3 APN 3 121,245,143 (GRCm39) missense probably benign 0.03
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
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
Predicted Primers
Posted On 2018-11-06