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
Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock # R4415 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 140069880-140082548 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 140072680 bp (GRCm38)
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

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

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
1110017D15Rik T C 4: 41,505,574 T183A possibly damaging Het
Ace3 A T 11: 106,005,121 D631V probably benign Het
Adam17 T C 12: 21,345,701 I274V possibly damaging Het
Aebp1 A G 11: 5,865,451 D303G probably damaging Het
B020004C17Rik T C 14: 57,017,417 *233R probably null Het
Bcl9l C T 9: 44,501,879 P127S possibly damaging Het
Bdp1 T C 13: 100,030,861 D2215G probably damaging Het
Ccdc125 T C 13: 100,696,309 S465P possibly damaging Het
Cdc23 ACC AC 18: 34,637,318 probably null Het
Colq T C 14: 31,535,688 K231E probably damaging Het
Fam32a T A 8: 72,221,941 I77N probably damaging Het
Gm597 T A 1: 28,777,133 Q606L probably benign Het
Impdh1 C T 6: 29,209,222 V49M probably damaging Het
Kcnh7 A G 2: 62,706,073 I1055T probably damaging Het
Lad1 A G 1: 135,828,746 D364G probably benign Het
Lama2 G T 10: 26,989,344 Y947* probably null Het
Myo5b T A 18: 74,580,408 I108N probably damaging Het
Nvl T C 1: 181,105,114 T713A probably benign Het
Oit3 T C 10: 59,428,103 Y403C probably damaging Het
Olfr814 T C 10: 129,873,957 T267A probably benign Het
Pappa A G 4: 65,305,295 T1236A probably benign Het
Rcl1 G A 19: 29,118,362 V116I probably benign Het
Rdh14 G A 12: 10,391,231 probably null Het
Rfx2 T A 17: 56,787,733 T204S possibly damaging Het
Rin2 C T 2: 145,860,446 T354I probably benign Het
Ripor1 T C 8: 105,617,976 S581P probably benign Het
Rnf213 T A 11: 119,483,964 V5084E probably damaging Het
Scn9a A T 2: 66,526,693 V1077E probably damaging Het
Slc15a5 A G 6: 138,079,756 V54A probably benign Het
Slc35b2 G A 17: 45,566,429 V161M probably benign Het
Snx19 T A 9: 30,437,483 L804Q probably damaging Het
Specc1l C A 10: 75,246,328 N519K possibly damaging Het
Stambp A T 6: 83,557,482 N274K probably damaging Het
Stox1 T C 10: 62,659,569 N975S probably benign Het
Tacc3 T G 5: 33,666,684 probably null Het
Tmem55a C T 4: 14,912,463 R191C probably damaging Het
Tubb1 G A 2: 174,457,673 E383K probably benign Het
Ube3b A T 5: 114,412,444 D844V probably damaging Het
Other mutations in Caly
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3727:Caly UTSW 7 140070504 missense probably damaging 0.96
R4995:Caly UTSW 7 140070625 missense probably benign 0.01
R5766:Caly UTSW 7 140070397 missense probably benign 0.00
R6866:Caly UTSW 7 140070619 missense probably benign 0.16
R7861:Caly UTSW 7 140081388 intron probably benign
R7991:Caly UTSW 7 140071600 missense possibly damaging 0.95
R8735:Caly UTSW 7 140072590 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-07-07