Incidental Mutation 'R9216:Cnn1'
ID 699196
Institutional Source Beutler Lab
Gene Symbol Cnn1
Ensembl Gene ENSMUSG00000001349
Gene Name calponin 1
Synonyms CnnI, calponin h1, CN
MMRRC Submission 068958-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9216 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 22010501-22020517 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 22019474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 281 (L281V)
Ref Sequence ENSEMBL: ENSMUSP00000001384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001384] [ENSMUST00000013966] [ENSMUST00000166335] [ENSMUST00000213607] [ENSMUST00000214601] [ENSMUST00000216872]
AlphaFold Q08091
Predicted Effect probably benign
Transcript: ENSMUST00000001384
AA Change: L281V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000001384
Gene: ENSMUSG00000001349
AA Change: L281V

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: ENSMUST00000013966
SMART Domains Protein: ENSMUSP00000013966
Gene: ENSMUSG00000013822

DomainStartEndE-ValueType
Pfam:Elf1 2 82 1.3e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166335
SMART Domains Protein: ENSMUSP00000128173
Gene: ENSMUSG00000013822

DomainStartEndE-ValueType
Pfam:Elf1 2 82 1.3e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213607
Predicted Effect probably benign
Transcript: ENSMUST00000214601
Predicted Effect probably benign
Transcript: ENSMUST00000216872
AA Change: L231V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (50/50)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 A T 12: 52,927,668 (GRCm39) T193S probably benign Het
Anpep T C 7: 79,486,049 (GRCm39) T558A possibly damaging Het
Asap2 A G 12: 21,263,191 (GRCm39) I269V probably benign Het
B3galnt2 T C 13: 14,165,423 (GRCm39) V273A probably benign Het
Bag3 C A 7: 128,143,923 (GRCm39) D306E possibly damaging Het
Bahcc1 C T 11: 120,177,514 (GRCm39) P2076S probably damaging Het
Btbd7 A C 12: 102,761,563 (GRCm39) L541V probably damaging Het
C6 A T 15: 4,820,465 (GRCm39) D492V probably damaging Het
Cdhr5 C T 7: 140,851,615 (GRCm39) S563N possibly damaging Het
Egflam G A 15: 7,281,942 (GRCm39) T398I probably benign Het
Eif4g2 T G 7: 110,673,415 (GRCm39) D788A probably benign Het
Elavl4 T C 4: 110,108,546 (GRCm39) E66G probably damaging Het
Fbxw16 T A 9: 109,276,887 (GRCm39) D87V probably damaging Het
Fsip2 A T 2: 82,820,425 (GRCm39) D5386V probably damaging Het
Ftl1 A C 7: 45,108,959 (GRCm39) S33A probably benign Het
Gm21560 T C 14: 6,218,338 (GRCm38) R47G probably damaging Het
Itpkc A T 7: 26,927,429 (GRCm39) C162S probably benign Het
Katnip T A 7: 125,471,926 (GRCm39) I1531N probably damaging Het
Kremen2 C T 17: 23,962,781 (GRCm39) A102T probably damaging Het
L3mbtl1 A T 2: 162,806,972 (GRCm39) Q480L probably benign Het
Lyst T C 13: 13,823,188 (GRCm39) C1387R probably benign Het
Nmi A G 2: 51,846,003 (GRCm39) V93A probably damaging Het
Ntn1 T C 11: 68,117,397 (GRCm39) K484R possibly damaging Het
Olig1 T C 16: 91,066,915 (GRCm39) S51P probably benign Het
Or6c76 A T 10: 129,611,796 (GRCm39) R4S probably benign Het
Pah G T 10: 87,357,888 (GRCm39) V4F probably benign Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pramel39-ps A T 5: 94,450,952 (GRCm39) N391K possibly damaging Het
Prox1 C A 1: 189,892,905 (GRCm39) E513D possibly damaging Het
Psd3 T C 8: 68,573,539 (GRCm39) N214S probably benign Het
Rhobtb1 A G 10: 69,108,628 (GRCm39) S505G probably benign Het
Ryr1 A T 7: 28,801,277 (GRCm39) L829H probably damaging Het
Sec16a A T 2: 26,304,401 (GRCm39) D852E Het
Senp2 T C 16: 21,847,344 (GRCm39) probably null Het
Sf3b1 A G 1: 55,051,376 (GRCm39) V184A probably benign Het
Skint5 T C 4: 113,392,955 (GRCm39) T1226A unknown Het
Slc1a6 G A 10: 78,637,692 (GRCm39) R406H probably damaging Het
Slc26a4 C A 12: 31,578,659 (GRCm39) V665L possibly damaging Het
Spef2 T C 15: 9,647,611 (GRCm39) Y932C probably damaging Het
Spidr T A 16: 15,936,814 (GRCm39) N97I probably benign Het
Ttn A G 2: 76,748,504 (GRCm39) S4182P probably damaging Het
Tubb6 T C 18: 67,534,514 (GRCm39) S138P probably damaging Het
Ubr2 C T 17: 47,292,285 (GRCm39) A393T probably benign Het
Utrn G T 10: 12,689,229 (GRCm39) P19T probably benign Het
Vcl T G 14: 21,033,515 (GRCm39) L157W probably damaging Het
Vmn1r184 A T 7: 25,966,703 (GRCm39) I150F probably benign Het
Vmn1r22 A T 6: 57,877,257 (GRCm39) M240K possibly damaging Het
Vmn2r14 A T 5: 109,369,112 (GRCm39) S154T probably benign Het
Wbp2 T C 11: 115,974,724 (GRCm39) N37D probably benign Het
Zfc3h1 C G 10: 115,221,528 (GRCm39) D142E unknown Het
Zmym6 T C 4: 127,002,500 (GRCm39) V577A probably benign Het
Zxdc C A 6: 90,359,189 (GRCm39) T607K probably benign 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
R5343:Cnn1 UTSW 9 22,016,706 (GRCm39) missense probably benign 0.41
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
R9332:Cnn1 UTSW 9 22,019,350 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAAGCGGCAGATCTTTGAG -3'
(R):5'- AGTTCTATGTTGGGCCCTGC -3'

Sequencing Primer
(F):5'- GCAGATCTTTGAGCCAGGTC -3'
(R):5'- CTATGTTGGGCCCTGCGAAAG -3'
Posted On 2022-02-07