Incidental Mutation 'R7867:Cnn3'
ID 607823
Institutional Source Beutler Lab
Gene Symbol Cnn3
Ensembl Gene ENSMUSG00000053931
Gene Name calponin 3, acidic
Synonyms 1600014M03Rik, Calpo3
MMRRC Submission 045919-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.278) question?
Stock # R7867 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 121220190-121251854 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121248704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 204 (I204V)
Ref Sequence ENSEMBL: ENSMUSP00000029773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029773] [ENSMUST00000039197] [ENSMUST00000197135] [ENSMUST00000198393]
AlphaFold Q9DAW9
Predicted Effect probably benign
Transcript: ENSMUST00000029773
AA Change: I204V

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029773
Gene: ENSMUSG00000053931
AA Change: I204V

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 probably benign
Transcript: ENSMUST00000039197
SMART Domains Protein: ENSMUSP00000040210
Gene: ENSMUSG00000039865

DomainStartEndE-ValueType
transmembrane domain 37 59 N/A INTRINSIC
transmembrane domain 217 239 N/A INTRINSIC
transmembrane domain 244 266 N/A INTRINSIC
Pfam:Choline_transpo 291 607 2.3e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197135
AA Change: I158V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000142526
Gene: ENSMUSG00000053931
AA Change: I158V

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: I107V

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143186
Gene: ENSMUSG00000053931
AA Change: I107V

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 probably benign
Transcript: ENSMUST00000198620
Predicted Effect probably benign
Transcript: ENSMUST00000199499
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,212,139 (GRCm39) probably null Het
Abcf1 C A 17: 36,272,890 (GRCm39) K252N probably damaging Het
Abi3 C T 11: 95,724,851 (GRCm39) A211T possibly damaging Het
Acaca A T 11: 84,140,350 (GRCm39) D608V possibly damaging Het
Akap10 A G 11: 61,791,272 (GRCm39) Y396H probably damaging Het
Ap3b1 C G 13: 94,619,771 (GRCm39) S778W unknown Het
Arb2a T C 13: 78,050,837 (GRCm39) M165T probably benign Het
Baat G A 4: 49,502,925 (GRCm39) L66F probably benign Het
Cachd1 A G 4: 100,845,759 (GRCm39) N981S probably damaging Het
Cacna1c C T 6: 118,753,407 (GRCm39) R243H Het
Cdh23 T A 10: 60,150,390 (GRCm39) I2527F probably damaging Het
Cinp A G 12: 110,840,557 (GRCm39) V198A probably benign Het
Clec4d T C 6: 123,244,123 (GRCm39) probably null Het
Cpxm2 C A 7: 131,650,800 (GRCm39) G620V probably damaging Het
Ctrl A C 8: 106,659,497 (GRCm39) S93A probably benign Het
Cyp2d34 A G 15: 82,501,425 (GRCm39) V301A possibly damaging Het
Dnaaf5 G T 5: 139,147,565 (GRCm39) K376N probably damaging Het
Eno2 C T 6: 124,740,137 (GRCm39) D300N probably damaging Het
Entrep3 T A 3: 89,093,083 (GRCm39) Y280* probably null Het
Fam117b T A 1: 60,014,046 (GRCm39) N440K probably damaging Het
Fam131a A G 16: 20,514,584 (GRCm39) S62G probably benign Het
Fancm T A 12: 65,163,240 (GRCm39) probably null Het
Fancm A G 12: 65,165,173 (GRCm39) D1506G probably benign Het
Fhad1 C A 4: 141,632,902 (GRCm39) V1201L probably benign Het
Gdpd4 T A 7: 97,623,185 (GRCm39) C265* probably null Het
Gm3127 A T 14: 15,425,888 (GRCm39) T98S probably null Het
Gpsm1 A T 2: 26,230,448 (GRCm39) D466V probably benign Het
Gramd1a T G 7: 30,842,992 (GRCm39) K76Q probably damaging Het
Gstp3 T C 19: 4,108,808 (GRCm39) D24G probably damaging Het
Kalrn G A 16: 33,810,161 (GRCm39) T2531I possibly damaging Het
Klk7 C A 7: 43,462,333 (GRCm39) D108E probably damaging Het
Klkb1 A G 8: 45,740,002 (GRCm39) S97P probably damaging Het
Krt13 T C 11: 100,012,008 (GRCm39) D105G probably damaging Het
Lingo2 T A 4: 35,709,302 (GRCm39) H226L probably benign Het
Lrba T C 3: 86,275,896 (GRCm39) S1755P probably damaging Het
Marf1 A G 16: 13,946,470 (GRCm39) V1217A probably damaging Het
Mtss1 A T 15: 58,842,858 (GRCm39) V118E possibly damaging Het
Mug1 T A 6: 121,850,593 (GRCm39) D696E probably benign Het
Ndufa3 C T 7: 3,623,003 (GRCm39) P56L probably damaging Het
Nop56 T A 2: 130,120,205 (GRCm39) C471S possibly damaging Het
Obscn T A 11: 58,891,652 (GRCm39) H6960L unknown Het
Or13a22 C T 7: 140,073,049 (GRCm39) T166I probably benign Het
Pcdhb10 A C 18: 37,546,619 (GRCm39) Q565P probably benign Het
Pde6g T A 11: 120,338,953 (GRCm39) H79L possibly damaging Het
Phrf1 G T 7: 140,836,524 (GRCm39) M265I unknown Het
Pkd2 T C 5: 104,630,986 (GRCm39) F470S probably damaging Het
Plekhm1 T A 11: 103,271,153 (GRCm39) D446V probably damaging Het
Prkaca A T 8: 84,721,963 (GRCm39) T325S probably benign Het
Proz A T 8: 13,111,027 (GRCm39) probably benign Het
Pten T C 19: 32,792,894 (GRCm39) F238L probably benign Het
Ptpn21 G A 12: 98,671,435 (GRCm39) L198F probably damaging Het
Rbm5 A T 9: 107,628,930 (GRCm39) S394T probably benign Het
Scaf8 T G 17: 3,227,994 (GRCm39) S408A unknown Het
Slc41a3 T A 6: 90,617,909 (GRCm39) F312I probably damaging Het
Soat2 T A 15: 102,059,598 (GRCm39) probably null Het
Sorcs1 C A 19: 50,218,698 (GRCm39) G595* probably null Het
Spopfm1 G C 3: 94,173,154 (GRCm39) S50T probably benign Het
Stox1 G T 10: 62,500,723 (GRCm39) D612E probably benign Het
Suco T C 1: 161,665,365 (GRCm39) I530M possibly damaging Het
Syne2 A G 12: 76,030,501 (GRCm39) probably null Het
Thbd G A 2: 148,249,664 (GRCm39) A68V probably damaging Het
Tmem109 A T 19: 10,855,466 (GRCm39) M4K unknown Het
Tmub1 G C 5: 24,651,664 (GRCm39) P85R possibly damaging Het
Tnk2 A C 16: 32,500,053 (GRCm39) Q1039H probably damaging Het
Tpm3 T C 3: 89,993,775 (GRCm39) L89S probably damaging Het
Unc13b C T 4: 43,232,573 (GRCm39) R432* probably null Het
Vmn2r59 T A 7: 41,661,707 (GRCm39) I703F probably damaging Het
Xylt1 T A 7: 117,074,749 (GRCm39) I122N probably benign Het
Zc3h12c T C 9: 52,055,248 (GRCm39) E187G 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
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
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 PCR Primer
(F):5'- ACACAGAACGTAGGCTTGTG -3'
(R):5'- TTTTAGGCTGCAGAAAGGGCC -3'

Sequencing Primer
(F):5'- CAGAACGTAGGCTTGTGCGTATG -3'
(R):5'- TGCAGAAAGGGCCCTTTG -3'
Posted On 2019-12-20