Incidental Mutation 'R2853:Ncs1'
ID 252377
Institutional Source Beutler Lab
Gene Symbol Ncs1
Ensembl Gene ENSMUSG00000062661
Gene Name neuronal calcium sensor 1
Synonyms 9430075O15Rik, NCS-1, A730032G13Rik, Freq
MMRRC Submission 040446-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R2853 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 31135835-31186001 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 31177329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 169 (F169L)
Ref Sequence ENSEMBL: ENSMUSP00000000199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000199] [ENSMUST00000150670]
AlphaFold Q8BNY6
Predicted Effect probably damaging
Transcript: ENSMUST00000000199
AA Change: F169L

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000000199
Gene: ENSMUSG00000062661
AA Change: F169L

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat A C 16: 8,418,832 (GRCm39) K142T probably damaging Het
Als2cl T C 9: 110,723,203 (GRCm39) S636P probably damaging Het
Angptl7 T C 4: 148,584,736 (GRCm39) E4G probably benign Het
Aph1c T C 9: 66,741,764 (GRCm39) probably null Het
Arhgap23 T C 11: 97,383,420 (GRCm39) probably null Het
Arhgef4 A C 1: 34,763,129 (GRCm39) D795A unknown Het
Atosb A G 4: 43,036,293 (GRCm39) L146P probably benign Het
Ccdc85a A G 11: 28,342,942 (GRCm39) probably benign Het
Chchd1 T C 14: 20,754,288 (GRCm39) S67P probably benign Het
Cubn C T 2: 13,435,645 (GRCm39) V1104I probably benign Het
Dennd5a A T 7: 109,532,878 (GRCm39) N297K probably damaging Het
Dnai4 T C 4: 102,907,355 (GRCm39) I644V possibly damaging Het
Egflam A T 15: 7,249,182 (GRCm39) W879R probably damaging Het
Far1 T C 7: 113,152,944 (GRCm39) Y351H possibly damaging Het
Gpr62 T C 9: 106,341,911 (GRCm39) E339G probably benign Het
Hspd1 A T 1: 55,120,256 (GRCm39) D315E probably damaging Het
Ids G T X: 69,396,776 (GRCm39) T329K probably damaging Het
Itga9 G A 9: 118,465,604 (GRCm39) E153K probably damaging Het
Krt82 T C 15: 101,456,870 (GRCm39) Y170C probably damaging Het
Megf10 T C 18: 57,427,003 (GRCm39) I1107T probably damaging Het
Mre11a A G 9: 14,737,843 (GRCm39) E599G probably benign Het
Mtm1 T G X: 70,345,389 (GRCm39) I437S probably damaging Het
Ncoa2 C T 1: 13,257,113 (GRCm39) V129I probably damaging Het
Ndst2 T C 14: 20,779,964 (GRCm39) E92G probably damaging Het
Parm1 T C 5: 91,742,124 (GRCm39) V164A probably benign Het
Pkhd1 T C 1: 20,128,526 (GRCm39) Q4059R probably benign Het
Scgb1b20 A C 7: 33,072,949 (GRCm39) K52N possibly damaging Het
Setbp1 T A 18: 78,967,211 (GRCm39) Q171L probably benign Het
Sik2 A T 9: 50,809,597 (GRCm39) L612Q probably damaging Het
Srprb G A 9: 103,076,038 (GRCm39) Q800* probably null Het
Ss18l1 A G 2: 179,699,914 (GRCm39) Y258C probably damaging Het
Togaram1 A G 12: 65,063,386 (GRCm39) K1567R probably benign Het
Ttc6 T C 12: 57,622,967 (GRCm39) F122S probably damaging Het
Vmn2r85 T A 10: 130,255,035 (GRCm39) M550L probably benign Het
Other mutations in Ncs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02021:Ncs1 APN 2 31,174,177 (GRCm39) missense probably damaging 1.00
R1245:Ncs1 UTSW 2 31,174,705 (GRCm39) missense probably benign 0.23
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'- CTAAGTTCCTCAGACCTGTCAC -3'
(R):5'- ACTTGAAGACTCCCGGGAAC -3'

Sequencing Primer
(F):5'- CAGACCTGTCACCGTGTC -3'
(R):5'- CCCTGAAGACACAGAGAATACTATG -3'
Posted On 2014-12-04