Incidental Mutation 'IGL02961:Caml'
ID 365373
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Caml
Ensembl Gene ENSMUSG00000021501
Gene Name calcium modulating ligand
Synonyms Caml
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02961
Quality Score
Status
Chromosome 13
Chromosomal Location 55770818-55780224 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55779695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 256 (N256S)
Ref Sequence ENSEMBL: ENSMUSP00000021963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021963] [ENSMUST00000099479] [ENSMUST00000172272] [ENSMUST00000223736]
AlphaFold P49070
Predicted Effect probably benign
Transcript: ENSMUST00000021963
AA Change: N256S

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000021963
Gene: ENSMUSG00000021501
AA Change: N256S

DomainStartEndE-ValueType
Pfam:CAML 21 290 8.8e-143 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099479
SMART Domains Protein: ENSMUSP00000097078
Gene: ENSMUSG00000021500

DomainStartEndE-ValueType
low complexity region 9 109 N/A INTRINSIC
Blast:DEXDc 110 348 4e-76 BLAST
DEXDc 391 592 3.27e-49 SMART
HELICc 629 710 1.55e-27 SMART
low complexity region 760 776 N/A INTRINSIC
low complexity region 798 813 N/A INTRINSIC
internal_repeat_1 855 894 6.68e-7 PROSPERO
low complexity region 911 925 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165154
Predicted Effect probably benign
Transcript: ENSMUST00000172272
SMART Domains Protein: ENSMUSP00000133245
Gene: ENSMUSG00000021500

DomainStartEndE-ValueType
low complexity region 9 109 N/A INTRINSIC
Blast:DEXDc 110 348 5e-76 BLAST
DEXDc 391 596 8.03e-67 SMART
HELICc 633 714 1.55e-27 SMART
low complexity region 764 780 N/A INTRINSIC
low complexity region 802 817 N/A INTRINSIC
internal_repeat_1 859 898 1.04e-6 PROSPERO
low complexity region 915 929 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000223736
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224551
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The immunosuppressant drug cyclosporin A blocks a calcium-dependent signal from the T-cell receptor (TCR) that normally leads to T-cell activation. When bound to cyclophilin B, cyclosporin A binds and inactivates the key signaling intermediate calcineurin. The protein encoded by this gene functions similarly to cyclosporin A, binding to cyclophilin B and acting downstream of the TCR and upstream of calcineurin by causing an influx of calcium. This integral membrane protein appears to be a new participant in the calcium signal transduction pathway, implicating cyclophilin B in calcium signaling, even in the absence of cyclosporin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice lacking both functional copies of this gene die during early gestation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,671,731 (GRCm39) V2288A probably damaging Het
Agbl4 T A 4: 110,437,318 (GRCm39) N76K probably damaging Het
AI182371 A T 2: 34,976,124 (GRCm39) V258E possibly damaging Het
Alg1 T A 16: 5,052,861 (GRCm39) N80K probably benign Het
Ambra1 A G 2: 91,741,793 (GRCm39) M963V possibly damaging Het
Avil C A 10: 126,844,175 (GRCm39) Q245K probably benign Het
Ccdc102a A C 8: 95,629,978 (GRCm39) I521S possibly damaging Het
Ccm2l A G 2: 152,920,521 (GRCm39) T393A probably benign Het
Cdh16 A G 8: 105,341,837 (GRCm39) V91A probably damaging Het
Chd7 A G 4: 8,751,542 (GRCm39) D13G probably damaging Het
Chsy1 T A 7: 65,821,530 (GRCm39) D588E probably benign Het
Cilp T A 9: 65,185,891 (GRCm39) V662E possibly damaging Het
Cog8 A G 8: 107,782,885 (GRCm39) probably benign Het
Cpb2 T C 14: 75,502,823 (GRCm39) V134A probably benign Het
Ctcfl T A 2: 172,943,712 (GRCm39) H546L possibly damaging Het
Dclre1c A G 2: 3,438,070 (GRCm39) D136G probably damaging Het
Dnah2 T A 11: 69,409,240 (GRCm39) E379D probably damaging Het
Extl3 A G 14: 65,294,408 (GRCm39) Y808H possibly damaging Het
Gm7247 T A 14: 51,602,812 (GRCm39) N49K probably damaging Het
Insr T C 8: 3,308,785 (GRCm39) I84V probably benign Het
Ipo7 C T 7: 109,646,223 (GRCm39) P541S probably benign Het
Kcnc3 T C 7: 44,240,916 (GRCm39) S203P probably damaging Het
Myo5a A G 9: 75,122,402 (GRCm39) D1732G probably benign Het
Or10q3 T A 19: 11,847,695 (GRCm39) N295I probably damaging Het
Or52d1 C A 7: 103,756,357 (GRCm39) Y290* probably null Het
Or5p68 T C 7: 107,945,334 (GRCm39) I285V probably benign Het
Or5w22 A G 2: 87,363,028 (GRCm39) Y217C probably damaging Het
Or6x1 T C 9: 40,098,897 (GRCm39) V162A probably benign Het
Pde3a T A 6: 141,405,426 (GRCm39) L426* probably null Het
Pkd1 T A 17: 24,797,089 (GRCm39) D8E possibly damaging Het
Polr3a A T 14: 24,517,108 (GRCm39) Y714* probably null Het
Pramel16 T C 4: 143,675,717 (GRCm39) T370A probably damaging Het
Prb1c A T 6: 132,338,371 (GRCm39) F282L unknown Het
Rasgrf1 T C 9: 89,863,702 (GRCm39) V556A possibly damaging Het
Rev3l T C 10: 39,703,941 (GRCm39) Y1996H possibly damaging Het
Rttn T C 18: 89,071,697 (GRCm39) L1248P probably damaging Het
Slc11a1 T C 1: 74,416,332 (GRCm39) L53P probably damaging Het
Slc22a27 T C 19: 7,903,886 (GRCm39) R84G probably damaging Het
Sptbn4 A G 7: 27,097,392 (GRCm39) L1302P probably damaging Het
Srm T C 4: 148,678,586 (GRCm39) V271A possibly damaging Het
Sycp2 A G 2: 178,022,655 (GRCm39) I492T probably benign Het
Tmprss13 A G 9: 45,256,301 (GRCm39) T472A probably damaging Het
Togaram1 A G 12: 65,013,484 (GRCm39) D245G probably damaging Het
Vmn1r184 A T 7: 25,967,075 (GRCm39) I274L probably benign Het
Vmn1r21 T C 6: 57,820,974 (GRCm39) M157V probably benign Het
Wdr90 C A 17: 26,067,649 (GRCm39) E1420* probably null Het
Zfp518a A T 19: 40,903,462 (GRCm39) R1130S probably benign Het
Other mutations in Caml
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02469:Caml APN 13 55,776,390 (GRCm39) missense probably damaging 1.00
H8786:Caml UTSW 13 55,776,409 (GRCm39) missense probably damaging 1.00
R0542:Caml UTSW 13 55,770,974 (GRCm39) missense possibly damaging 0.94
R0673:Caml UTSW 13 55,779,641 (GRCm39) missense probably damaging 1.00
R1106:Caml UTSW 13 55,772,538 (GRCm39) missense probably benign 0.01
R1171:Caml UTSW 13 55,772,820 (GRCm39) missense probably damaging 1.00
R1661:Caml UTSW 13 55,779,784 (GRCm39) missense probably benign 0.12
R1665:Caml UTSW 13 55,779,784 (GRCm39) missense probably benign 0.12
R4613:Caml UTSW 13 55,772,955 (GRCm39) missense probably damaging 0.99
R4774:Caml UTSW 13 55,779,740 (GRCm39) missense possibly damaging 0.96
R5945:Caml UTSW 13 55,776,445 (GRCm39) missense probably damaging 1.00
R6247:Caml UTSW 13 55,772,986 (GRCm39) critical splice donor site probably null
R6433:Caml UTSW 13 55,771,062 (GRCm39) missense possibly damaging 0.94
R7973:Caml UTSW 13 55,779,784 (GRCm39) missense probably benign 0.03
R9360:Caml UTSW 13 55,771,030 (GRCm39) missense probably damaging 0.99
R9660:Caml UTSW 13 55,779,670 (GRCm39) missense possibly damaging 0.94
R9728:Caml UTSW 13 55,779,670 (GRCm39) missense possibly damaging 0.94
Posted On 2015-12-18