Incidental Mutation 'R5766:Caly'
ID 446277
Institutional Source Beutler Lab
Gene Symbol Caly
Ensembl Gene ENSMUSG00000025468
Gene Name calcyon neuron-specific vesicular protein
Synonyms 0710001P07Rik, Calcyon, 1110004A22Rik, Drd1ip
MMRRC Submission 044424-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R5766 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 139649793-139662461 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139650310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 211 (K211E)
Ref Sequence ENSEMBL: ENSMUSP00000148173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026541] [ENSMUST00000166758] [ENSMUST00000211044] [ENSMUST00000211283]
AlphaFold Q9DCA7
Predicted Effect probably benign
Transcript: ENSMUST00000026541
AA Change: K211E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000026541
Gene: ENSMUSG00000025468
AA Change: K211E

DomainStartEndE-ValueType
Pfam:Calcyon 1 218 1.2e-95 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166758
AA Change: K211E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000130779
Gene: ENSMUSG00000025468
AA Change: K211E

DomainStartEndE-ValueType
Pfam:Calcyon 1 182 2.7e-80 PFAM
low complexity region 183 196 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000211044
AA Change: K211E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000211283
AA Change: K211E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II single transmembrane protein. It is required for maximal stimulated calcium release after stimulation of purinergic or muscarinic but not beta-adrenergic receptors. The encoded protein interacts with D1 dopamine receptor and may interact with other DA receptor subtypes and/or GPCRs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Neurons in homozygous null mice have defects in clathrin-mediated endocytosis (CME) that manifests as an absence of long term depression in post-synaptic currents of the hippocampus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,182,439 (GRCm39) V343A probably damaging Het
AI429214 TCCCTGATGAAC TC 8: 37,461,383 (GRCm39) probably null Het
Arid2 A G 15: 96,270,086 (GRCm39) T1400A probably benign Het
Arrdc1 G A 2: 24,816,417 (GRCm39) T184I probably damaging Het
Aspm T C 1: 139,406,740 (GRCm39) F1876L probably damaging Het
Calhm1 C T 19: 47,132,142 (GRCm39) V158I probably benign Het
Cenpe T C 3: 134,954,174 (GRCm39) L1677P probably damaging Het
Cttnbp2 A G 6: 18,381,032 (GRCm39) V1388A possibly damaging Het
Dgkd C T 1: 87,808,171 (GRCm39) R80* probably null Het
Dnah3 A T 7: 119,577,445 (GRCm39) I2072N probably damaging Het
Dnah8 A G 17: 30,909,235 (GRCm39) I1020M probably benign Het
Drc3 T C 11: 60,284,647 (GRCm39) V484A probably benign Het
Efcab8 A G 2: 153,622,912 (GRCm39) D27G possibly damaging Het
Fat4 G A 3: 38,943,617 (GRCm39) G837R probably damaging Het
Fcgbpl1 G A 7: 27,836,754 (GRCm39) W224* probably null Het
Fgb A T 3: 82,953,483 (GRCm39) C96S probably damaging Het
Flt4 G C 11: 49,517,513 (GRCm39) W278C possibly damaging Het
Fmnl2 T C 2: 52,991,466 (GRCm39) V327A probably damaging Het
Fras1 A T 5: 96,879,548 (GRCm39) Y2455F possibly damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm13872 T A 2: 102,568,254 (GRCm39) I88N probably damaging Het
Hoxa6 A G 6: 52,185,394 (GRCm39) S71P probably benign Het
Hunk T A 16: 90,250,627 (GRCm39) C148S probably damaging Het
Ighv1-18 A C 12: 114,646,527 (GRCm39) S26A probably damaging Het
Impg2 T G 16: 56,080,183 (GRCm39) D553E possibly damaging Het
Ints1 A G 5: 139,757,900 (GRCm39) I266T probably benign Het
Kpna3 G T 14: 61,640,463 (GRCm39) T33K probably benign Het
Lamb1 A G 12: 31,349,930 (GRCm39) D622G probably damaging Het
Lamp3 T C 16: 19,520,067 (GRCm39) T39A probably damaging Het
Mnt C T 11: 74,733,904 (GRCm39) probably benign Het
Msh4 A G 3: 153,573,477 (GRCm39) S726P probably damaging Het
Or13a25 T A 7: 140,247,266 (GRCm39) V22E probably benign Het
Pah A C 10: 87,403,209 (GRCm39) K195Q probably damaging Het
Pdc T A 1: 150,209,251 (GRCm39) *245K probably null Het
Pdzd8 A T 19: 59,288,972 (GRCm39) H809Q possibly damaging Het
Plekhd1 A T 12: 80,769,140 (GRCm39) I467L probably benign Het
Ppp2ca A G 11: 52,004,014 (GRCm39) D57G probably damaging Het
Ralgapa1 A T 12: 55,867,551 (GRCm39) M1K probably null Het
Rfx2 T A 17: 57,110,587 (GRCm39) D133V probably benign Het
Scfd2 A T 5: 74,623,312 (GRCm39) L407Q probably damaging Het
Scp2d1 T A 2: 144,665,957 (GRCm39) S99T possibly damaging Het
Sec63 A T 10: 42,677,677 (GRCm39) N261I probably damaging Het
Slc8a1 T C 17: 81,956,390 (GRCm39) Y216C probably damaging Het
Son T A 16: 91,461,875 (GRCm39) probably benign Het
Syce1 T C 7: 140,357,894 (GRCm39) E285G probably damaging Het
Taar7a G T 10: 23,869,260 (GRCm39) S40R probably benign Het
Ube3a A T 7: 58,925,807 (GRCm39) D216V possibly damaging Het
Vgll2 A G 10: 51,903,659 (GRCm39) D174G probably damaging Het
Vmn2r17 A T 5: 109,575,139 (GRCm39) T149S possibly damaging Het
Zbtb39 G T 10: 127,578,557 (GRCm39) C377F probably damaging Het
Zfp820 T A 17: 22,038,983 (GRCm39) N115I probably damaging Het
Zfp948 T C 17: 21,805,078 (GRCm39) S23P probably benign Het
Other mutations in Caly
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3727:Caly UTSW 7 139,650,417 (GRCm39) missense probably damaging 0.96
R4415:Caly UTSW 7 139,652,593 (GRCm39) missense probably damaging 1.00
R4995:Caly UTSW 7 139,650,538 (GRCm39) missense probably benign 0.01
R6866:Caly UTSW 7 139,650,532 (GRCm39) missense probably benign 0.16
R7861:Caly UTSW 7 139,661,301 (GRCm39) intron probably benign
R7991:Caly UTSW 7 139,651,513 (GRCm39) missense possibly damaging 0.95
R8735:Caly UTSW 7 139,652,503 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCATGTCAAAGTAGCTGGTG -3'
(R):5'- TACTACACCGAGATGGACCC -3'

Sequencing Primer
(F):5'- CAGACTCGGAGGTAGCGTTG -3'
(R):5'- AGCATCCTGGCAGCCATC -3'
Posted On 2016-11-21