Incidental Mutation 'R5343:Cnn1'
ID 422452
Institutional Source Beutler Lab
Gene Symbol Cnn1
Ensembl Gene ENSMUSG00000001349
Gene Name calponin 1
Synonyms CnnI, calponin h1, CN
MMRRC Submission 042922-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5343 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 22010501-22020517 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22016706 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 48 (Y48F)
Ref Sequence ENSEMBL: ENSMUSP00000150665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001384] [ENSMUST00000213607] [ENSMUST00000214601] [ENSMUST00000216872]
AlphaFold Q08091
Predicted Effect probably benign
Transcript: ENSMUST00000001384
AA Change: Y98F

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000001384
Gene: ENSMUSG00000001349
AA Change: Y98F

DomainStartEndE-ValueType
CH 30 127 2.69e-25 SMART
low complexity region 134 143 N/A INTRINSIC
Pfam:Calponin 164 188 1.1e-18 PFAM
Pfam:Calponin 204 228 1.1e-17 PFAM
Pfam:Calponin 243 267 2.6e-15 PFAM
low complexity region 286 295 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000213607
AA Change: Y48F

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000214601
AA Change: Y98F

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216141
Predicted Effect probably benign
Transcript: ENSMUST00000216872
AA Change: Y48F

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an allele lacking exons 5-7 exhibit accelerated cartilage formation and ossification. As adults mutant animals have increased width of the long bones and accelerated bone fracture repair. Mice homozygous for an allele lacking intron 1exhibit preweaning lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310039H08Rik C A 17: 47,083,962 (GRCm39) A75E probably damaging Het
Adck5 G A 15: 76,479,780 (GRCm39) R560H probably damaging Het
Ahctf1 A T 1: 179,598,199 (GRCm39) Y964* probably null Het
Alg8 T C 7: 97,036,126 (GRCm39) I339T possibly damaging Het
Alox5 T C 6: 116,390,468 (GRCm39) D503G possibly damaging Het
Camk4 A G 18: 33,211,122 (GRCm39) T76A probably damaging Het
Cdh3 T C 8: 107,279,568 (GRCm39) V728A probably benign Het
Chd4 T A 6: 125,097,326 (GRCm39) N1326K probably damaging Het
Dnah6 T A 6: 73,189,599 (GRCm39) E16D probably benign Het
Ezh2 A G 6: 47,553,549 (GRCm39) L56S probably damaging Het
F13b T C 1: 139,438,282 (GRCm39) V299A possibly damaging Het
Hydin T C 8: 111,212,051 (GRCm39) S1279P probably benign Het
Ift172 T C 5: 31,421,156 (GRCm39) M981V probably benign Het
Inava G T 1: 136,153,180 (GRCm39) H237Q probably benign Het
Lpl T A 8: 69,348,389 (GRCm39) V206E probably damaging Het
Mre11a A G 9: 14,723,130 (GRCm39) D368G probably damaging Het
Mreg G A 1: 72,200,117 (GRCm39) P191L probably damaging Het
Mtif2 G T 11: 29,486,964 (GRCm39) A134S probably damaging Het
Mxd4 T C 5: 34,335,074 (GRCm39) S114G probably benign Het
Myo1b T C 1: 51,817,696 (GRCm39) Q522R probably benign Het
Ncapd3 GGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTG 9: 26,999,349 (GRCm39) probably benign Het
Ninl T C 2: 150,813,110 (GRCm39) E182G probably benign Het
Notch3 T C 17: 32,362,257 (GRCm39) N1456S probably benign Het
Npr1 G T 3: 90,365,515 (GRCm39) N648K possibly damaging Het
Oas3 A G 5: 120,894,303 (GRCm39) S1016P possibly damaging Het
Or10a3 C T 7: 108,480,205 (GRCm39) V203M possibly damaging Het
Or9i14 T C 19: 13,792,324 (GRCm39) N210S probably damaging Het
Palld A G 8: 62,002,849 (GRCm39) probably benign Het
Patj T G 4: 98,564,430 (GRCm39) I1021S probably damaging Het
Pfpl T A 19: 12,406,052 (GRCm39) L101Q probably damaging Het
Pilrb2 T A 5: 137,869,228 (GRCm39) E124V possibly damaging Het
Pomk A G 8: 26,473,044 (GRCm39) F303S probably benign Het
Rap1gap2 A T 11: 74,332,611 (GRCm39) S65T probably damaging Het
Sema3a G A 5: 13,523,373 (GRCm39) C114Y probably damaging Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,103,384 (GRCm39) probably benign Het
Spry4 A T 18: 38,723,028 (GRCm39) V245E probably damaging Het
Srrt T C 5: 137,295,427 (GRCm39) Y271C probably damaging Het
Tas2r136 A G 6: 132,755,043 (GRCm39) V28A probably benign Het
Tenm2 A G 11: 35,960,330 (GRCm39) V998A probably benign Het
Trim37 A G 11: 87,028,429 (GRCm39) E46G probably damaging Het
Ubiad1 A G 4: 148,520,892 (GRCm39) V244A possibly damaging Het
Other mutations in Cnn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Cnn1 APN 9 22,010,693 (GRCm39) missense possibly damaging 0.95
IGL02206:Cnn1 APN 9 22,015,674 (GRCm39) splice site probably benign
spring_rolls UTSW 9 22,019,165 (GRCm39) missense probably damaging 1.00
R1076:Cnn1 UTSW 9 22,019,165 (GRCm39) missense probably damaging 1.00
R1647:Cnn1 UTSW 9 22,019,150 (GRCm39) missense probably damaging 0.99
R1898:Cnn1 UTSW 9 22,012,560 (GRCm39) critical splice donor site probably null
R3522:Cnn1 UTSW 9 22,010,664 (GRCm39) missense probably benign 0.01
R5193:Cnn1 UTSW 9 22,019,132 (GRCm39) missense probably damaging 0.97
R7172:Cnn1 UTSW 9 22,016,790 (GRCm39) missense probably damaging 1.00
R7205:Cnn1 UTSW 9 22,017,078 (GRCm39) critical splice donor site probably null
R7251:Cnn1 UTSW 9 22,019,513 (GRCm39) missense unknown
R8290:Cnn1 UTSW 9 22,012,447 (GRCm39) missense probably benign 0.35
R8725:Cnn1 UTSW 9 22,010,557 (GRCm39) unclassified probably benign
R8727:Cnn1 UTSW 9 22,010,557 (GRCm39) unclassified probably benign
R8966:Cnn1 UTSW 9 22,010,716 (GRCm39) critical splice donor site probably null
R9216:Cnn1 UTSW 9 22,019,474 (GRCm39) missense probably benign 0.00
R9332:Cnn1 UTSW 9 22,019,350 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAATCACCTTCATGGCTCC -3'
(R):5'- GCTCAAGGGTCTAAGTGTCC -3'

Sequencing Primer
(F):5'- GGCAACCCTTGAATTTGCAG -3'
(R):5'- TAAGTGTCCCCGTGGATATCAGAC -3'
Posted On 2016-08-04