Incidental Mutation 'R5474:Ncs1'
ID 433960
Institutional Source Beutler Lab
Gene Symbol Ncs1
Ensembl Gene ENSMUSG00000062661
Gene Name neuronal calcium sensor 1
Synonyms 9430075O15Rik, NCS-1, A730032G13Rik, Freq
MMRRC Submission 043035-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.141) question?
Stock # R5474 (G1)
Quality Score 170
Status Not validated
Chromosome 2
Chromosomal Location 31135835-31186001 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 31170796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 70 (N70Y)
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: N70Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000199
Gene: ENSMUSG00000062661
AA Change: N70Y

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 silent
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: 98.2%
  • 3x: 97.2%
  • 10x: 95.0%
  • 20x: 90.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 C T 12: 118,904,425 (GRCm39) G122S probably null Het
Ankmy1 T C 1: 92,812,926 (GRCm39) D461G possibly damaging Het
Ascc3 T C 10: 50,725,634 (GRCm39) I2119T probably benign Het
Bud13 G C 9: 46,199,251 (GRCm39) R204T probably damaging Het
Clec4a4 T C 6: 122,989,706 (GRCm39) S116P probably damaging Het
Cnga1 T C 5: 72,762,536 (GRCm39) Y326C probably damaging Het
Cngb1 A T 8: 95,978,597 (GRCm39) I588N probably damaging Het
Cspg5 A T 9: 110,080,076 (GRCm39) I334F probably damaging Het
Cyp2c29 G A 19: 39,313,436 (GRCm39) A350T probably damaging Het
D5Ertd579e G T 5: 36,772,601 (GRCm39) S598Y probably damaging Het
Dgkq A G 5: 108,797,009 (GRCm39) probably null Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dock4 T C 12: 40,795,730 (GRCm39) I849T probably benign Het
Drd4 T C 7: 140,873,641 (GRCm39) W98R probably damaging Het
Duox1 A T 2: 122,177,106 (GRCm39) Q1511L probably benign Het
Gtdc1 A T 2: 44,646,379 (GRCm39) L83Q probably damaging Het
H2-T3 G A 17: 36,500,999 (GRCm39) P6S probably damaging Het
H6pd A G 4: 150,080,546 (GRCm39) C92R probably damaging Het
Ide A G 19: 37,249,583 (GRCm39) V923A unknown Het
Kcnc4 A T 3: 107,355,207 (GRCm39) S414T possibly damaging Het
Krt14 A T 11: 100,095,571 (GRCm39) M278K probably damaging Het
Lrit1 T A 14: 36,783,943 (GRCm39) S424T probably benign Het
Muc4 G A 16: 32,581,635 (GRCm39) S2500N unknown Het
Nemf C A 12: 69,363,109 (GRCm39) R923L probably benign Het
Nrros T C 16: 31,963,170 (GRCm39) I246M probably benign Het
Or5w13 G A 2: 87,523,401 (GRCm39) S275F probably damaging Het
Or6a2 T A 7: 106,600,296 (GRCm39) Y257F probably damaging Het
Or8g51 T A 9: 38,609,609 (GRCm39) T18S possibly damaging Het
Polb A G 8: 23,120,386 (GRCm39) Y296H probably benign Het
Prrc2a A T 17: 35,378,189 (GRCm39) F440L unknown Het
Prrc2c T C 1: 162,537,213 (GRCm39) probably benign Het
Ptprk C T 10: 28,372,926 (GRCm39) R726* probably null Het
Rnpc3 A T 3: 113,409,158 (GRCm39) L247* probably null Het
Scfd2 C T 5: 74,692,025 (GRCm39) V86I probably benign Het
Sec14l5 A G 16: 4,996,382 (GRCm39) T443A possibly damaging Het
Slc22a29 A G 19: 8,195,221 (GRCm39) V138A probably damaging Het
Usp15 T C 10: 122,963,950 (GRCm39) D524G probably damaging Het
Vav3 A G 3: 109,571,737 (GRCm39) T220A probably benign Het
Vmn2r17 G A 5: 109,582,150 (GRCm39) S513N probably damaging Het
Zfp84 C T 7: 29,476,514 (GRCm39) S402L probably damaging Het
Zfta A T 19: 7,397,524 (GRCm39) R24W probably damaging 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
R2983:Ncs1 UTSW 2 31,174,708 (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'- ATGGCTTTCCTGGGTCTCAC -3'
(R):5'- TCAGTCATACAGATGAGCACATG -3'

Sequencing Primer
(F):5'- TTCCTGGGTCTCACTGGCAG -3'
(R):5'- TGTGCCACACGTATGCAC -3'
Posted On 2016-10-06