Incidental Mutation 'R4415:Caly'
ID 326791
Institutional Source Beutler Lab
Gene Symbol Caly
Ensembl Gene ENSMUSG00000025468
Gene Name calcyon neuron-specific vesicular protein
Synonyms 0710001P07Rik, Calcyon, 1110004A22Rik, Drd1ip
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R4415 (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 139652593 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 52 (T52A)
Ref Sequence ENSEMBL: ENSMUSP00000148173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026541] [ENSMUST00000166758] [ENSMUST00000211044] [ENSMUST00000211283]
AlphaFold Q9DCA7
Predicted Effect probably damaging
Transcript: ENSMUST00000026541
AA Change: T52A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026541
Gene: ENSMUSG00000025468
AA Change: T52A

DomainStartEndE-ValueType
Pfam:Calcyon 1 218 1.2e-95 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166758
AA Change: T52A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130779
Gene: ENSMUSG00000025468
AA Change: T52A

DomainStartEndE-ValueType
Pfam:Calcyon 1 182 2.7e-80 PFAM
low complexity region 183 196 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000211044
AA Change: T52A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000211283
AA Change: T52A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace3 A T 11: 105,895,947 (GRCm39) D631V probably benign Het
Adam17 T C 12: 21,395,702 (GRCm39) I274V possibly damaging Het
Aebp1 A G 11: 5,815,451 (GRCm39) D303G probably damaging Het
B020004C17Rik T C 14: 57,254,874 (GRCm39) *233R probably null Het
Bcl9l C T 9: 44,413,176 (GRCm39) P127S possibly damaging Het
Bdp1 T C 13: 100,167,369 (GRCm39) D2215G probably damaging Het
Ccdc125 T C 13: 100,832,817 (GRCm39) S465P possibly damaging Het
Cdc23 ACC AC 18: 34,770,371 (GRCm39) probably null Het
Colq T C 14: 31,257,645 (GRCm39) K231E probably damaging Het
Fam32a T A 8: 72,975,785 (GRCm39) I77N probably damaging Het
Impdh1 C T 6: 29,209,221 (GRCm39) V49M probably damaging Het
Kcnh7 A G 2: 62,536,417 (GRCm39) I1055T probably damaging Het
Lad1 A G 1: 135,756,484 (GRCm39) D364G probably benign Het
Lama2 G T 10: 26,865,340 (GRCm39) Y947* probably null Het
Myo5b T A 18: 74,713,479 (GRCm39) I108N probably damaging Het
Nvl T C 1: 180,932,679 (GRCm39) T713A probably benign Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Or6c70 T C 10: 129,709,826 (GRCm39) T267A probably benign Het
Pappa A G 4: 65,223,532 (GRCm39) T1236A probably benign Het
Pip4p2 C T 4: 14,912,463 (GRCm39) R191C probably damaging Het
Rcl1 G A 19: 29,095,762 (GRCm39) V116I probably benign Het
Rdh14 G A 12: 10,441,231 (GRCm39) probably null Het
Rfx2 T A 17: 57,094,733 (GRCm39) T204S possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Ripor1 T C 8: 106,344,608 (GRCm39) S581P probably benign Het
Rnf213 T A 11: 119,374,790 (GRCm39) V5084E probably damaging Het
Scn9a A T 2: 66,357,037 (GRCm39) V1077E probably damaging Het
Slc15a5 A G 6: 138,056,754 (GRCm39) V54A probably benign Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Snx19 T A 9: 30,348,779 (GRCm39) L804Q probably damaging Het
Spata31e5 T A 1: 28,816,214 (GRCm39) Q606L probably benign Het
Specc1l C A 10: 75,082,162 (GRCm39) N519K possibly damaging Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Stambp A T 6: 83,534,464 (GRCm39) N274K probably damaging Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Tacc3 T G 5: 33,824,028 (GRCm39) probably null Het
Tubb1 G A 2: 174,299,466 (GRCm39) E383K probably benign Het
Ube3b A T 5: 114,550,505 (GRCm39) D844V probably damaging Het
Other mutations in Caly
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3727:Caly UTSW 7 139,650,417 (GRCm39) missense probably damaging 0.96
R4995:Caly UTSW 7 139,650,538 (GRCm39) missense probably benign 0.01
R5766:Caly UTSW 7 139,650,310 (GRCm39) missense probably benign 0.00
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'- ACAAGACCTGAGTTGCTCATC -3'
(R):5'- GAGTGAGGAAATGCACCCAC -3'

Sequencing Primer
(F):5'- AAGACCTGAGTTGCTCATCTACCC -3'
(R):5'- TGAATATCTGTGGTTCCTATCAGTC -3'
Posted On 2015-07-07