Incidental Mutation 'R2352:Caln1'
ID 246191
Institutional Source Beutler Lab
Gene Symbol Caln1
Ensembl Gene ENSMUSG00000060371
Gene Name calneuron 1
Synonyms Cabp8, 9630012C17Rik
MMRRC Submission 040334-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R2352 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 130398296-130876253 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 130534993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 70 (E70*)
Ref Sequence ENSEMBL: ENSMUSP00000143823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086029] [ENSMUST00000111287] [ENSMUST00000111288] [ENSMUST00000141131] [ENSMUST00000202728]
AlphaFold Q9JJG7
Predicted Effect probably null
Transcript: ENSMUST00000086029
AA Change: E70*
SMART Domains Protein: ENSMUSP00000083193
Gene: ENSMUSG00000060371
AA Change: E70*

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 null
Transcript: ENSMUST00000111287
AA Change: E28*
SMART Domains Protein: ENSMUSP00000106918
Gene: ENSMUSG00000060371
AA Change: E28*

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 null
Transcript: ENSMUST00000111288
AA Change: E28*
SMART Domains Protein: ENSMUSP00000106919
Gene: ENSMUSG00000060371
AA Change: E28*

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 null
Transcript: ENSMUST00000141131
AA Change: E28*
SMART Domains Protein: ENSMUSP00000144225
Gene: ENSMUSG00000060371
AA Change: E28*

DomainStartEndE-ValueType
Pfam:EF-hand_1 40 68 1.3e-9 PFAM
Pfam:EF-hand_6 40 69 2.6e-9 PFAM
Pfam:EF-hand_5 41 66 1.1e-6 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000202728
AA Change: E70*
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.0%
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 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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 C T 14: 31,432,904 (GRCm39) V548I probably benign Het
Aspm T C 1: 139,385,300 (GRCm39) S315P probably benign Het
Cd69 A T 6: 129,246,567 (GRCm39) W114R probably damaging Het
Cnbd2 T C 2: 156,177,275 (GRCm39) Y90H probably damaging Het
Crebrf C T 17: 26,961,320 (GRCm39) S147F probably damaging Het
Cts7 A T 13: 61,500,586 (GRCm39) C320* probably null Het
Dgat1 T C 15: 76,386,513 (GRCm39) I474V possibly damaging Het
Dmxl2 T A 9: 54,301,146 (GRCm39) I2322F probably damaging Het
Dnah11 A T 12: 117,892,065 (GRCm39) F3703I probably damaging Het
Foxb2 A G 19: 16,850,433 (GRCm39) L191P unknown Het
Gli3 A T 13: 15,836,977 (GRCm39) E453D probably benign Het
Gnl3 C T 14: 30,738,783 (GRCm39) probably null Het
Golgb1 A T 16: 36,718,921 (GRCm39) T276S probably damaging Het
Grk4 T C 5: 34,826,520 (GRCm39) M40T probably benign Het
Hoxb1 A G 11: 96,257,203 (GRCm39) N184S possibly damaging Het
Insr G T 8: 3,242,593 (GRCm39) T42N probably damaging Het
Iqgap3 A G 3: 88,011,815 (GRCm39) K836E possibly damaging Het
Kremen1 CGGG CGGGGGG 11: 5,151,791 (GRCm39) probably benign Het
Leng9 T A 7: 4,152,409 (GRCm39) E89V probably damaging Het
Lhcgr C T 17: 89,049,727 (GRCm39) V600I possibly damaging Het
Lima1 T C 15: 99,692,396 (GRCm39) N183S probably benign Het
Lmtk2 A G 5: 144,110,729 (GRCm39) D483G probably benign Het
Lpcat2b T G 5: 107,581,307 (GRCm39) L212R probably damaging Het
Lrrc61 A T 6: 48,545,806 (GRCm39) I210F probably benign Het
Lypd8l A T 11: 58,503,676 (GRCm39) L10H probably damaging Het
Lypd8l G A 11: 58,502,934 (GRCm39) Q72* probably null Het
Med12l C T 3: 59,148,113 (GRCm39) L977F probably damaging Het
Mical1 A T 10: 41,358,229 (GRCm39) D414V probably benign Het
Mmp14 C T 14: 54,678,002 (GRCm39) A541V probably benign Het
Mtmr10 A G 7: 63,947,328 (GRCm39) D81G possibly damaging Het
Myh1 G A 11: 67,111,363 (GRCm39) V1601M probably benign Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Neb T C 2: 52,177,348 (GRCm39) Y1331C probably damaging Het
Otop2 T C 11: 115,219,927 (GRCm39) S256P probably damaging Het
Prl8a1 A G 13: 27,759,572 (GRCm39) L155P probably damaging Het
Rrp1b A T 17: 32,278,302 (GRCm39) M658L possibly damaging Het
Sema4b C A 7: 79,870,627 (GRCm39) A525D probably damaging Het
Slc13a5 T A 11: 72,143,147 (GRCm39) I369F probably benign Het
Slc22a18 T C 7: 143,051,152 (GRCm39) S344P probably benign Het
Slc25a4 A C 8: 46,662,212 (GRCm39) S149A probably benign Het
Smc2 A T 4: 52,460,266 (GRCm39) E547D probably benign Het
Stx8 A G 11: 67,864,077 (GRCm39) T46A probably benign Het
Tacr3 T C 3: 134,560,631 (GRCm39) V190A probably benign Het
Tdrkh A T 3: 94,336,467 (GRCm39) K468M possibly damaging Het
Tmem145 T C 7: 25,005,598 (GRCm39) S4P probably benign Het
Tmem74 A G 15: 43,730,506 (GRCm39) I179T probably damaging Het
Vmn1r222 A C 13: 23,416,683 (GRCm39) W177G probably benign Het
Zfp426 T C 9: 20,381,401 (GRCm39) I529V probably benign Het
Zfp462 A G 4: 55,008,313 (GRCm39) Y93C probably null Het
Zfyve26 G A 12: 79,330,890 (GRCm39) T443I probably damaging Het
Zkscan16 A C 4: 58,951,869 (GRCm39) R181S possibly damaging 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
R5489:Caln1 UTSW 5 130,443,673 (GRCm39) missense possibly damaging 0.66
R7114:Caln1 UTSW 5 130,868,124 (GRCm39) missense possibly damaging 0.93
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'- TAGCTATGTAACTTCGCCATCTG -3'
(R):5'- TAGCCCTAACTGCCAATGAGAAG -3'

Sequencing Primer
(F):5'- TTCGCCATCTGGAAAATAGAGAC -3'
(R):5'- TGCCAATGAGAAGCCCTCTAGG -3'
Posted On 2014-10-30