Incidental Mutation 'R1647:Cnn1'
ID 173956
Institutional Source Beutler Lab
Gene Symbol Cnn1
Ensembl Gene ENSMUSG00000001349
Gene Name calponin 1
Synonyms calponin h1, CN, CnnI
MMRRC Submission 039683-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1647 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 22099216-22109630 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 22107854 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 202 (A202E)
Ref Sequence ENSEMBL: ENSMUSP00000001384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001384] [ENSMUST00000213607] [ENSMUST00000214601] [ENSMUST00000216872]
AlphaFold Q08091
Predicted Effect probably damaging
Transcript: ENSMUST00000001384
AA Change: A202E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001384
Gene: ENSMUSG00000001349
AA Change: A202E

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000214601
AA Change: A202E

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216141
Predicted Effect possibly damaging
Transcript: ENSMUST00000216872
AA Change: A152E

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.0880 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 97% (70/72)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A G 4: 109,505,571 S184P probably damaging Het
Adgb A G 10: 10,395,371 F817L probably damaging Het
Anxa10 T C 8: 62,092,584 D38G probably damaging Het
Atp8b2 G A 3: 89,941,784 A1081V probably benign Het
Baz1a G A 12: 54,975,198 R100C probably damaging Het
Ceacam18 A C 7: 43,639,265 T147P possibly damaging Het
Cep170b C T 12: 112,736,372 T423I probably damaging Het
Chd6 A G 2: 161,042,058 L89S probably damaging Het
Chrm3 A T 13: 9,878,425 W192R probably damaging Het
Dcaf7 T A 11: 106,051,802 F192I probably damaging Het
Eif2b5 T C 16: 20,502,585 V296A possibly damaging Het
Entpd7 A G 19: 43,721,745 probably benign Het
Esr1 A G 10: 5,001,260 E546G possibly damaging Het
Etaa1 C A 11: 17,946,492 G542C probably damaging Het
Exosc8 A T 3: 54,734,101 probably null Het
Fras1 T A 5: 96,726,613 probably null Het
G930045G22Rik T C 6: 50,846,718 noncoding transcript Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,301,883 probably benign Het
Gm5615 A G 9: 36,534,440 S72P possibly damaging Het
Gpr155 T C 2: 73,364,164 probably null Het
Has1 A G 17: 17,849,985 Y225H probably damaging Het
Hk3 A G 13: 55,014,461 F110S probably damaging Het
Iars A G 13: 49,723,002 K848E possibly damaging Het
Il22ra1 C A 4: 135,750,460 H281N probably damaging Het
Inpp4b G T 8: 81,856,774 probably benign Het
Itga11 A G 9: 62,760,370 N662D probably benign Het
Kif20b A T 19: 34,936,790 T355S possibly damaging Het
Kif21a T C 15: 90,994,367 T237A probably damaging Het
Klc1 T C 12: 111,776,887 L216P probably damaging Het
Krt84 G A 15: 101,525,963 S523F possibly damaging Het
Lama3 A G 18: 12,532,199 D2330G possibly damaging Het
Lamb2 G A 9: 108,481,423 probably null Het
Limch1 T A 5: 66,999,256 S511R probably damaging Het
Lnx2 C A 5: 147,027,342 V468L probably benign Het
Lrriq1 A T 10: 103,170,648 C1205* probably null Het
Lsm4 A G 8: 70,677,806 Y25C probably damaging Het
Macc1 T C 12: 119,446,421 M308T probably benign Het
Miip T C 4: 147,865,234 S174G probably benign Het
Mroh9 T G 1: 163,046,056 E510A probably damaging Het
Msh2 C T 17: 87,672,636 A14V probably benign Het
Nbea T A 3: 55,630,229 I2828F probably damaging Het
Nkx2-3 A T 19: 43,614,456 Q167L probably damaging Het
Nup160 T C 2: 90,710,088 Y854H probably damaging Het
Olfr1436 T A 19: 12,298,659 I158L probably benign Het
Olfr519 A G 7: 108,893,765 I214T probably damaging Het
Olfr642 A G 7: 104,050,169 Y62H probably damaging Het
Phldb1 G A 9: 44,715,433 P572S probably damaging Het
Plcb2 A T 2: 118,723,780 M64K possibly damaging Het
Prr12 T A 7: 45,034,192 N1683Y probably benign Het
Prrg4 C A 2: 104,832,743 A173S probably benign Het
Pygl T A 12: 70,197,010 I553F possibly damaging Het
Rasd1 T C 11: 59,964,094 M187V probably benign Het
Rasgrf1 A G 9: 89,953,920 I234V probably benign Het
Rps6ka4 C A 19: 6,839,362 V118L probably benign Het
Sbspon C A 1: 15,883,759 R99L probably damaging Het
Sdhaf3 T C 6: 6,956,126 Y34H probably damaging Het
Setd2 A G 9: 110,549,864 S632G probably benign Het
Shc2 T A 10: 79,626,111 M367L probably benign Het
Slc26a5 T A 5: 21,813,976 K590* probably null Het
Slc39a12 T C 2: 14,451,992 V597A probably benign Het
Slc45a3 G A 1: 131,977,524 G81D probably damaging Het
Spata2l T C 8: 123,233,302 N416S probably benign Het
Tdrd6 A C 17: 43,627,109 V1016G possibly damaging Het
Tet2 A G 3: 133,485,880 V931A probably benign Het
Tmem190 A G 7: 4,784,121 D108G probably damaging Het
Trip11 T A 12: 101,884,392 K853* probably null Het
Vmn2r111 A T 17: 22,569,061 D436E probably benign Het
Zfp704 A T 3: 9,471,039 S140R probably damaging Het
Other mutations in Cnn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00157:Cnn1 APN 9 22099397 missense possibly damaging 0.95
IGL02206:Cnn1 APN 9 22104378 splice site probably benign
spring_rolls UTSW 9 22107869 missense probably damaging 1.00
R1076:Cnn1 UTSW 9 22107869 missense probably damaging 1.00
R1898:Cnn1 UTSW 9 22101264 critical splice donor site probably null
R3522:Cnn1 UTSW 9 22099368 missense probably benign 0.01
R5193:Cnn1 UTSW 9 22107836 missense probably damaging 0.97
R5343:Cnn1 UTSW 9 22105410 missense probably benign 0.41
R7172:Cnn1 UTSW 9 22105494 missense probably damaging 1.00
R7205:Cnn1 UTSW 9 22105782 critical splice donor site probably null
R7251:Cnn1 UTSW 9 22108217 missense unknown
R8290:Cnn1 UTSW 9 22101151 missense probably benign 0.35
R8725:Cnn1 UTSW 9 22099261 unclassified probably benign
R8727:Cnn1 UTSW 9 22099261 unclassified probably benign
R8966:Cnn1 UTSW 9 22099420 critical splice donor site probably null
R9216:Cnn1 UTSW 9 22108178 missense probably benign 0.00
R9332:Cnn1 UTSW 9 22108054 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCAGGATTCCAGTTGACAGGATG -3'
(R):5'- AAGCTGACGTTGAGTGTGTCGC -3'

Sequencing Primer
(F):5'- GGCCACACGTTGAATCTTG -3'
(R):5'- AGACCTGGCTCAAAGATCTG -3'
Posted On 2014-04-24