Incidental Mutation 'R1245:Ncs1'
ID 152112
Institutional Source Beutler Lab
Gene Symbol Ncs1
Ensembl Gene ENSMUSG00000062661
Gene Name neuronal calcium sensor 1
Synonyms 9430075O15Rik, NCS-1, A730032G13Rik, Freq
MMRRC Submission 039312-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R1245 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 31135835-31186001 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31174705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 143 (N143S)
Ref Sequence ENSEMBL: ENSMUSP00000000199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000199] [ENSMUST00000150670]
AlphaFold Q8BNY6
Predicted Effect probably benign
Transcript: ENSMUST00000000199
AA Change: N143S

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000000199
Gene: ENSMUSG00000062661
AA Change: N143S

DomainStartEndE-ValueType
EFh 64 92 1.9e-2 SMART
EFh 100 128 3.76e-6 SMART
EFh 148 176 3.4e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150670
SMART Domains Protein: ENSMUSP00000142269
Gene: ENSMUSG00000062661

DomainStartEndE-ValueType
PDB:4OV2|D 1 28 6e-8 PDB
SCOP:d1fpwa_ 1 28 1e-4 SMART
low complexity region 37 57 N/A INTRINSIC
Meta Mutation Damage Score 0.0600 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.5%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 T A 11: 7,119,410 (GRCm39) probably benign Het
Ahnak A G 19: 8,981,533 (GRCm39) N939S probably benign Het
Cblb C A 16: 51,867,550 (GRCm39) probably benign Het
Cd22 A G 7: 30,569,308 (GRCm39) S603P probably damaging Het
Col6a6 G A 9: 105,626,109 (GRCm39) R1515C possibly damaging Het
Csf1r C A 18: 61,247,884 (GRCm39) D317E probably benign Het
Dlg2 T C 7: 92,091,803 (GRCm39) probably benign Het
Enpp3 G A 10: 24,660,851 (GRCm39) probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gm5828 A T 1: 16,839,353 (GRCm39) noncoding transcript Het
Gpr137c T C 14: 45,516,522 (GRCm39) probably benign Het
Ibtk A G 9: 85,602,795 (GRCm39) probably null Het
Kctd7 A G 5: 130,177,058 (GRCm39) H96R possibly damaging Het
Lmcd1 T A 6: 112,292,673 (GRCm39) V175E probably benign Het
Lrfn2 A T 17: 49,403,277 (GRCm39) probably null Het
Ltbp1 C T 17: 75,634,189 (GRCm39) probably benign Het
Myc A G 15: 61,859,746 (GRCm39) I140V probably damaging Het
Nckap1l A G 15: 103,364,352 (GRCm39) E100G probably damaging Het
Nmnat2 A G 1: 152,987,949 (GRCm39) D238G probably benign Het
Or10ag57 T A 2: 87,218,553 (GRCm39) V168E probably benign Het
Ppp2r3d G A 9: 101,071,593 (GRCm39) T675I probably damaging Het
Psma2 A G 13: 14,787,876 (GRCm39) Y6C probably damaging Het
Rspo4 G A 2: 151,709,846 (GRCm39) E84K probably damaging Het
Shank2 G A 7: 143,965,457 (GRCm39) V1015I probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Smg8 T C 11: 86,974,436 (GRCm39) D632G possibly damaging Het
Sppl2a A T 2: 126,755,441 (GRCm39) probably benign Het
Svep1 A G 4: 58,066,427 (GRCm39) probably null Het
Ttn T A 2: 76,776,044 (GRCm39) K1666M probably damaging Het
Ulk1 A G 5: 110,937,206 (GRCm39) probably null Het
Unc80 A G 1: 66,594,254 (GRCm39) D1211G possibly damaging Het
Vmn2r112 A G 17: 22,822,228 (GRCm39) Q302R probably benign Het
Vmn2r6 A G 3: 64,464,211 (GRCm39) S208P possibly damaging Het
Wnk1 C T 6: 119,925,418 (GRCm39) V1847I probably benign Het
Zfp653 A T 9: 21,967,718 (GRCm39) I529N probably damaging Het
Zfp948 T C 17: 21,807,104 (GRCm39) S99P probably damaging Het
Zfyve9 A G 4: 108,550,508 (GRCm39) probably benign Het
Zscan29 T C 2: 120,996,984 (GRCm39) T246A probably damaging Het
Other mutations in Ncs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02021:Ncs1 APN 2 31,174,177 (GRCm39) missense probably damaging 1.00
R2853:Ncs1 UTSW 2 31,177,329 (GRCm39) missense probably damaging 0.98
R2983:Ncs1 UTSW 2 31,174,708 (GRCm39) missense probably damaging 1.00
R5474:Ncs1 UTSW 2 31,170,796 (GRCm39) missense probably damaging 1.00
R5813:Ncs1 UTSW 2 31,170,666 (GRCm39) splice site probably null
R6662:Ncs1 UTSW 2 31,177,372 (GRCm39) missense probably damaging 1.00
R7913:Ncs1 UTSW 2 31,177,296 (GRCm39) splice site probably null
R8812:Ncs1 UTSW 2 31,174,213 (GRCm39) missense probably damaging 1.00
R8836:Ncs1 UTSW 2 31,136,159 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- ATCACCAGGAACGAGATGCTCGAC -3'
(R):5'- CACCAAAGACCCTGAATGGCTACTG -3'

Sequencing Primer
(F):5'- TAGTGGACGCCATTTACCAG -3'
(R):5'- TACTGGCTGCGAGTCAAG -3'
Posted On 2014-01-29