Incidental Mutation 'R0542:Caml'
ID 50004
Institutional Source Beutler Lab
Gene Symbol Caml
Ensembl Gene ENSMUSG00000021501
Gene Name calcium modulating ligand
Synonyms Caml
MMRRC Submission 038734-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0542 (G1)
Quality Score 143
Status Validated
Chromosome 13
Chromosomal Location 55770818-55780224 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 55770974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 24 (Q24L)
Ref Sequence ENSEMBL: ENSMUSP00000021963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021963]
AlphaFold P49070
Predicted Effect possibly damaging
Transcript: ENSMUST00000021963
AA Change: Q24L

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021963
Gene: ENSMUSG00000021501
AA Change: Q24L

DomainStartEndE-ValueType
Pfam:CAML 21 290 8.8e-143 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169228
Meta Mutation Damage Score 0.7124 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 99% (70/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12b C A 12: 70,210,269 (GRCm39) N71K possibly damaging Het
Adgrl2 A G 3: 148,564,854 (GRCm39) I242T probably damaging Het
Adgrv1 A G 13: 81,721,437 (GRCm39) S714P probably damaging Het
Agap3 G A 5: 24,705,184 (GRCm39) R704Q possibly damaging Het
Ankrd11 T C 8: 123,622,509 (GRCm39) R448G probably damaging Het
Anks1b T C 10: 89,909,829 (GRCm39) probably benign Het
Cdc14b G A 13: 64,391,497 (GRCm39) T124I probably benign Het
Clca3a2 A G 3: 144,781,571 (GRCm39) probably benign Het
Col12a1 A G 9: 79,512,610 (GRCm39) probably null Het
Crispld1 T C 1: 17,816,992 (GRCm39) V183A possibly damaging Het
Cstdc1 A G 2: 148,624,092 (GRCm39) N22S probably benign Het
Dhx40 C T 11: 86,695,082 (GRCm39) probably null Het
Dmxl1 T A 18: 50,026,761 (GRCm39) D1956E probably benign Het
Dsc2 A G 18: 20,184,283 (GRCm39) V35A probably damaging Het
Dync2i2 A G 2: 29,921,837 (GRCm39) V508A probably damaging Het
Elovl2 A G 13: 41,345,452 (GRCm39) probably benign Het
Gapvd1 T C 2: 34,615,048 (GRCm39) probably benign Het
Gnaq T A 19: 16,196,982 (GRCm39) I56N probably damaging Het
Gpr139 T C 7: 118,744,306 (GRCm39) D93G probably benign Het
Hars1 C T 18: 36,904,234 (GRCm39) R215H probably benign Het
Helz2 C A 2: 180,873,882 (GRCm39) W2204L probably damaging Het
Ift70b A G 2: 75,767,055 (GRCm39) V566A probably damaging Het
Itgb6 A T 2: 60,435,480 (GRCm39) C757S possibly damaging Het
Kpnb1 G A 11: 97,078,398 (GRCm39) T5I probably benign Het
Krt82 T C 15: 101,454,035 (GRCm39) probably benign Het
Lgals9 T A 11: 78,860,546 (GRCm39) K175N possibly damaging Het
Lrp2 A G 2: 69,258,998 (GRCm39) I4564T probably benign Het
Mblac1 A G 5: 138,192,798 (GRCm39) T47A possibly damaging Het
Med12l G A 3: 58,949,822 (GRCm39) D182N probably damaging Het
Megf9 A G 4: 70,353,585 (GRCm39) I407T probably benign Het
Mtmr6 A T 14: 60,529,578 (GRCm39) probably null Het
Mtor A G 4: 148,624,907 (GRCm39) T2173A probably benign Het
Mzt1 A T 14: 99,277,938 (GRCm39) probably benign Het
Narf T C 11: 121,143,690 (GRCm39) L444P probably damaging Het
Nsd1 A T 13: 55,408,271 (GRCm39) Q1305L possibly damaging Het
Ntsr1 A G 2: 180,184,374 (GRCm39) Y359C probably damaging Het
Olfm1 A G 2: 28,104,640 (GRCm39) D159G possibly damaging Het
Or2l13b A T 16: 19,348,732 (GRCm39) *313R probably null Het
Pcdh1 C T 18: 38,322,975 (GRCm39) V953I probably damaging Het
Pcdhb11 A T 18: 37,556,887 (GRCm39) D739V probably damaging Het
Pdgfd A G 9: 6,359,769 (GRCm39) N280S probably damaging Het
Per2 A T 1: 91,366,054 (GRCm39) probably null Het
Pfkp G T 13: 6,672,028 (GRCm39) C122* probably null Het
Plxna4 G A 6: 32,169,232 (GRCm39) R1322W probably damaging Het
Ppox A G 1: 171,106,818 (GRCm39) L202P probably damaging Het
Ppp1r3e G A 14: 55,114,588 (GRCm39) P58L probably benign Het
Prr23a2 A C 9: 98,739,086 (GRCm39) N148T probably benign Het
Psd T C 19: 46,302,649 (GRCm39) T842A probably damaging Het
Ranbp2 C T 10: 58,314,236 (GRCm39) A1652V probably benign Het
Rragd G A 4: 33,007,103 (GRCm39) V144M probably damaging Het
Sema6a T G 18: 47,381,643 (GRCm39) D968A probably damaging Het
Slc30a5 A T 13: 100,945,793 (GRCm39) probably null Het
Snx17 G T 5: 31,353,895 (GRCm39) probably null Het
Styxl2 A T 1: 165,928,853 (GRCm39) M253K possibly damaging Het
Syt14 G T 1: 192,613,111 (GRCm39) T563K probably damaging Het
Tada3 T C 6: 113,352,175 (GRCm39) K85E probably damaging Het
Tspear T C 10: 77,716,921 (GRCm39) V532A probably benign Het
Ttn A T 2: 76,723,453 (GRCm39) C6426S possibly damaging Het
Unc79 T C 12: 103,060,437 (GRCm39) probably benign Het
Usp19 A G 9: 108,371,584 (GRCm39) probably null Het
Vav3 G A 3: 109,434,746 (GRCm39) D426N probably damaging Het
Vezt T C 10: 93,842,958 (GRCm39) probably null Het
Vldlr G T 19: 27,213,655 (GRCm39) R114L probably benign Het
Wwc2 C T 8: 48,321,414 (GRCm39) V567I unknown Het
Zfp423 T C 8: 88,507,237 (GRCm39) T911A probably damaging Het
Zfp719 A G 7: 43,238,677 (GRCm39) probably null Het
Zkscan16 A T 4: 58,956,597 (GRCm39) H293L possibly damaging Het
Zkscan6 A C 11: 65,719,525 (GRCm39) N515T possibly damaging Het
Znfx1 A G 2: 166,897,575 (GRCm39) S450P probably damaging Het
Other mutations in Caml
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02469:Caml APN 13 55,776,390 (GRCm39) missense probably damaging 1.00
IGL02961:Caml APN 13 55,779,695 (GRCm39) missense probably benign 0.08
H8786:Caml UTSW 13 55,776,409 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- TGAGCACTGCGAGCCAACTTAG -3'
(R):5'- CGGTGACAGAGTTCGGTCAGAATG -3'

Sequencing Primer
(F):5'- TGCCCTCACTGAACATGG -3'
(R):5'- TTTGGGGACAAAATGTTTACGAGC -3'
Posted On 2013-06-12