Incidental Mutation 'R7114:Caln1'
ID 551673
Institutional Source Beutler Lab
Gene Symbol Caln1
Ensembl Gene ENSMUSG00000060371
Gene Name calneuron 1
Synonyms Cabp8, 9630012C17Rik
MMRRC Submission 045244-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R7114 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 130398296-130876253 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130868124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 220 (V220A)
Ref Sequence ENSEMBL: ENSMUSP00000083193 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086029] [ENSMUST00000111287] [ENSMUST00000111288]
AlphaFold Q9JJG7
Predicted Effect possibly damaging
Transcript: ENSMUST00000086029
AA Change: V220A

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000083193
Gene: ENSMUSG00000060371
AA Change: V220A

DomainStartEndE-ValueType
EFh 82 110 2.98e-9 SMART
EFh 118 146 2.06e-3 SMART
low complexity region 195 204 N/A INTRINSIC
transmembrane domain 234 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111287
AA Change: V178A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106918
Gene: ENSMUSG00000060371
AA Change: V178A

DomainStartEndE-ValueType
EFh 40 68 2.98e-9 SMART
EFh 76 104 2.06e-3 SMART
low complexity region 153 162 N/A INTRINSIC
transmembrane domain 192 214 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111288
AA Change: V178A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106919
Gene: ENSMUSG00000060371
AA Change: V178A

DomainStartEndE-ValueType
EFh 40 68 2.98e-9 SMART
EFh 76 104 2.06e-3 SMART
low complexity region 153 162 N/A INTRINSIC
transmembrane domain 192 214 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with high similarity to the calcium-binding proteins of the calmodulin family. The encoded protein contains two EF-hand domains and potential calcium-binding sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 119,900,445 (GRCm39) A1291T probably benign Het
Anks1b G A 10: 90,143,560 (GRCm39) R523Q probably damaging Het
Arhgap12 T A 18: 6,028,056 (GRCm39) I690F probably damaging Het
Cd79b T A 11: 106,202,713 (GRCm39) T263S probably damaging Het
Cep290 A T 10: 100,379,220 (GRCm39) K67N probably damaging Het
Col19a1 T C 1: 24,377,017 (GRCm39) T443A possibly damaging Het
Col25a1 A G 3: 130,389,324 (GRCm39) I636V probably benign Het
Col9a3 C T 2: 180,245,590 (GRCm39) P154S unknown Het
Cyp3a11 T A 5: 145,795,593 (GRCm39) M453L probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Eno1b T C 18: 48,180,560 (GRCm39) V246A possibly damaging Het
Eogt T C 6: 97,092,965 (GRCm39) Y404C probably damaging Het
Ephx3 T A 17: 32,404,006 (GRCm39) E380V possibly damaging Het
Fancl T C 11: 26,357,615 (GRCm39) L114P probably damaging Het
Flad1 C T 3: 89,314,837 (GRCm39) G287S probably benign Het
Gcm1 G T 9: 77,967,061 (GRCm39) K93N probably damaging Het
Golga3 T A 5: 110,350,578 (GRCm39) D704E probably benign Het
Grb14 A C 2: 64,747,197 (GRCm39) I451S probably damaging Het
Gtf3c3 T C 1: 54,462,666 (GRCm39) N366D probably benign Het
Hecw1 A T 13: 14,486,356 (GRCm39) H376Q probably benign Het
Helb A T 10: 119,941,161 (GRCm39) V509E probably benign Het
Hephl1 C T 9: 14,981,111 (GRCm39) E774K probably damaging Het
Hkdc1 T C 10: 62,229,622 (GRCm39) E685G probably damaging Het
Igfn1 T C 1: 135,894,519 (GRCm39) T2016A probably benign Het
Igkv5-43 T G 6: 69,800,515 (GRCm39) Q57H probably damaging Het
Lamc3 T A 2: 31,820,657 (GRCm39) V1224E probably damaging Het
Lgals3bp C T 11: 118,284,309 (GRCm39) W423* probably null Het
Mcm9 G A 10: 53,414,669 (GRCm39) T137I possibly damaging Het
Mdga1 C A 17: 30,061,816 (GRCm39) probably null Het
Mocos C T 18: 24,799,572 (GRCm39) P269S probably damaging Het
Naa40 A G 19: 7,207,322 (GRCm39) V134A probably damaging Het
Neb G A 2: 52,082,571 (GRCm39) L5680F probably damaging Het
Nedd9 A G 13: 41,492,099 (GRCm39) V137A probably benign Het
Nup133 T C 8: 124,642,112 (GRCm39) I784V probably benign Het
Nup214 T C 2: 31,915,256 (GRCm39) S1147P possibly damaging Het
Or10x4 A T 1: 174,218,805 (GRCm39) M57L probably damaging Het
Or8g28 G T 9: 39,169,897 (GRCm39) Q24K possibly damaging Het
Plcb4 T A 2: 135,824,043 (GRCm39) probably null Het
Pomt1 C T 2: 32,143,848 (GRCm39) T671I probably benign Het
Pomt2 G T 12: 87,157,150 (GRCm39) P723H probably damaging Het
Prpf8 T A 11: 75,394,181 (GRCm39) Y1741* probably null Het
Ptprs C G 17: 56,758,697 (GRCm39) V175L probably benign Het
Slc36a4 T C 9: 15,633,250 (GRCm39) F95L probably benign Het
Smn1 C T 13: 100,267,648 (GRCm39) P225S probably benign Het
Snrpa A T 7: 26,891,174 (GRCm39) I99N probably benign Het
Tgm5 G T 2: 120,878,977 (GRCm39) Y588* probably null Het
Tmeff2 T A 1: 51,224,404 (GRCm39) probably null Het
Tmem120b T C 5: 123,254,741 (GRCm39) F314S probably damaging Het
Trim43b C T 9: 88,967,661 (GRCm39) R325H probably benign Het
Vmn1r26 C T 6: 57,985,755 (GRCm39) A145T probably benign Het
Wdfy4 T C 14: 32,693,531 (GRCm39) probably null Het
Wnt5a C A 14: 28,244,713 (GRCm39) T320K probably damaging Het
Wrn AGCAGGTAATACATACCG AG 8: 33,775,149 (GRCm39) probably null Het
Zfp398 T C 6: 47,842,910 (GRCm39) S321P probably benign Het
Zfp959 T A 17: 56,205,501 (GRCm39) C513S possibly damaging Het
Zfr2 A G 10: 81,080,559 (GRCm39) D411G probably damaging Het
Zkscan5 T A 5: 145,147,988 (GRCm39) probably benign Het
Other mutations in Caln1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Caln1 APN 5 130,698,392 (GRCm39) missense probably damaging 1.00
IGL03152:Caln1 APN 5 130,646,693 (GRCm39) missense probably damaging 0.97
IGL03409:Caln1 APN 5 130,646,719 (GRCm39) missense probably damaging 1.00
ANU22:Caln1 UTSW 5 130,698,392 (GRCm39) missense probably damaging 1.00
R0346:Caln1 UTSW 5 130,851,762 (GRCm39) missense possibly damaging 0.83
R2180:Caln1 UTSW 5 130,868,249 (GRCm39) makesense probably null
R2352:Caln1 UTSW 5 130,534,993 (GRCm39) nonsense probably null
R5489:Caln1 UTSW 5 130,443,673 (GRCm39) missense possibly damaging 0.66
R7159:Caln1 UTSW 5 130,851,838 (GRCm39) missense probably benign 0.20
R7355:Caln1 UTSW 5 130,443,732 (GRCm39) missense probably benign
R7611:Caln1 UTSW 5 130,534,918 (GRCm39) missense probably damaging 0.99
R8119:Caln1 UTSW 5 130,851,825 (GRCm39) missense probably damaging 0.96
R9088:Caln1 UTSW 5 130,443,617 (GRCm39) start gained probably benign
R9138:Caln1 UTSW 5 130,698,449 (GRCm39) missense probably damaging 0.98
Z1177:Caln1 UTSW 5 130,868,155 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACAGACTGTGGTTCTGATAGGGATG -3'
(R):5'- AATGAACAGAGTCTGCCCGC -3'

Sequencing Primer
(F):5'- TGGTTTACCATTTCATACGTTTCAC -3'
(R):5'- CATGCACATGCGCAGTGAG -3'
Posted On 2019-05-15