Incidental Mutation 'R2983:Ncs1'
ID 257113
Institutional Source Beutler Lab
Gene Symbol Ncs1
Ensembl Gene ENSMUSG00000062661
Gene Name neuronal calcium sensor 1
Synonyms 9430075O15Rik, NCS-1, A730032G13Rik, Freq
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R2983 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 31135835-31186001 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31174708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 144 (T144I)
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: T144I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000199
Gene: ENSMUSG00000062661
AA Change: T144I

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: 97.4%
  • 20x: 95.5%
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A G 4: 144,349,784 (GRCm39) D347G probably damaging Het
Brwd1 T C 16: 95,867,774 (GRCm39) K124E probably damaging Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dlec1 T C 9: 118,975,241 (GRCm39) V1607A probably benign Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Flnb T A 14: 7,882,250 (GRCm38) V317E probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Kmt2c AGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTG AGCTGCTGCTGCTGCTG 5: 25,520,755 (GRCm39) probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Or5k16 T A 16: 58,736,930 (GRCm39) T25S probably benign Het
Pira13 A T 7: 3,824,574 (GRCm39) S503T probably damaging Het
Prkcd G A 14: 30,321,435 (GRCm39) S552L probably damaging Het
Rad54l2 A G 9: 106,577,789 (GRCm39) V1044A probably benign Het
Rasal1 A G 5: 120,792,927 (GRCm39) H60R probably benign Het
Rccd1 G A 7: 79,970,276 (GRCm39) Q114* probably null Het
Speg T C 1: 75,361,574 (GRCm39) V90A possibly damaging Het
St8sia1 A G 6: 142,909,355 (GRCm39) V47A probably damaging Het
Tex264 A G 9: 106,559,296 (GRCm39) I10T unknown Het
Ttc23l CT CTTGGATT 15: 10,537,648 (GRCm39) probably benign Het
Ttc23l G A 15: 10,537,652 (GRCm39) S206L probably benign Het
Vmn1r81 G A 7: 11,994,596 (GRCm39) T4I 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
R2853:Ncs1 UTSW 2 31,177,329 (GRCm39) missense probably damaging 0.98
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'- ATGTGACCCTCATTGCCAC -3'
(R):5'- GGGCCCTGGCTAATTACAAG -3'

Sequencing Primer
(F):5'- TCATTGCCACCAGCCCAGG -3'
(R):5'- GCCCTGGCTAATTACAAGGAACTTC -3'
Posted On 2015-01-11