Incidental Mutation 'IGL02373:Ncald'
ID290999
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ncald
Ensembl Gene ENSMUSG00000051359
Gene Nameneurocalcin delta
SynonymsD15Ertd412e, D030020D09Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02373
Quality Score
Status
Chromosome15
Chromosomal Location37366175-37792570 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 37372209 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 131 (M131L)
Ref Sequence ENSEMBL: ENSMUSP00000130126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090150] [ENSMUST00000116445] [ENSMUST00000119730] [ENSMUST00000120746] [ENSMUST00000148652] [ENSMUST00000153775] [ENSMUST00000168992]
Predicted Effect probably benign
Transcript: ENSMUST00000090150
AA Change: M131L

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000087611
Gene: ENSMUSG00000051359
AA Change: M131L

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 176 1.95e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116445
AA Change: M131L

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112146
Gene: ENSMUSG00000051359
AA Change: M131L

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 176 1.95e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116758
Predicted Effect probably benign
Transcript: ENSMUST00000119730
AA Change: M131L

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000113858
Gene: ENSMUSG00000051359
AA Change: M131L

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 176 1.95e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000120746
AA Change: M131L

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112898
Gene: ENSMUSG00000051359
AA Change: M131L

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 176 1.95e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148652
AA Change: M131L

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000121460
Gene: ENSMUSG00000051359
AA Change: M131L

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
Pfam:EF-hand_5 149 163 1.2e-4 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153775
AA Change: M131L

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000114576
Gene: ENSMUSG00000051359
AA Change: M131L

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 174 1.4e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000168992
AA Change: M131L

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000130126
Gene: ENSMUSG00000051359
AA Change: M131L

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 176 1.95e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185617
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele could not be generated. Mice heterozygous for the targeted allele exhibit increased systemic arterial systolic blood pressure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 C T 4: 86,249,805 L462F probably damaging Het
Adgrv1 T C 13: 81,459,713 D4080G possibly damaging Het
Apc A C 18: 34,316,159 D2002A probably damaging Het
Apobr T A 7: 126,585,391 F25I probably damaging Het
Cyp4a10 T A 4: 115,521,077 L120* probably null Het
Daam2 A G 17: 49,473,380 S704P probably damaging Het
Dcst1 G T 3: 89,357,891 N217K probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fmn1 C A 2: 113,364,126 P57Q unknown Het
Galnt1 G A 18: 24,280,035 G464D possibly damaging Het
Ggcx T A 6: 72,427,919 W437R probably damaging Het
Gm11487 T C 4: 73,403,643 M52V probably benign Het
Igkv13-54-1 T C 6: 69,617,320 noncoding transcript Het
Iglon5 T C 7: 43,479,219 E58G probably benign Het
Met C T 6: 17,491,529 P97S probably damaging Het
Myg1 T A 15: 102,336,833 M158K probably damaging Het
Nipa2 T C 7: 55,933,128 I290V probably benign Het
Olfr1307 C A 2: 111,944,833 V208L probably benign Het
Olfr507 A T 7: 108,622,103 Y97F probably benign Het
Olfr818 A G 10: 129,945,465 L84S probably benign Het
Ppfia3 C T 7: 45,358,849 R48Q probably damaging Het
Rab12 A G 17: 66,498,065 L156P probably damaging Het
Slc28a3 C T 13: 58,578,404 probably null Het
Slc4a11 T C 2: 130,684,898 N770S probably benign Het
Tanc1 T C 2: 59,796,028 probably null Het
Vmn2r-ps130 A T 17: 23,076,892 R679* probably null Het
Vwa5b2 G A 16: 20,604,844 R1169H probably damaging Het
Other mutations in Ncald
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Ncald APN 15 37372207 missense possibly damaging 0.78
R0507:Ncald UTSW 15 37397284 missense probably benign 0.03
R1168:Ncald UTSW 15 37397334 missense probably damaging 0.99
R1700:Ncald UTSW 15 37397343 missense probably benign 0.04
R1914:Ncald UTSW 15 37397080 missense probably benign 0.00
R1915:Ncald UTSW 15 37397080 missense probably benign 0.00
R2057:Ncald UTSW 15 37397179 missense possibly damaging 0.93
R3873:Ncald UTSW 15 37397253 missense probably damaging 1.00
R4612:Ncald UTSW 15 37397349 missense probably benign 0.04
R5071:Ncald UTSW 15 37397234 missense probably damaging 1.00
R5073:Ncald UTSW 15 37397234 missense probably damaging 1.00
R5074:Ncald UTSW 15 37397234 missense probably damaging 1.00
R6183:Ncald UTSW 15 37397232 missense probably damaging 1.00
R7036:Ncald UTSW 15 37368878 missense probably benign 0.00
R7334:Ncald UTSW 15 37397280 missense probably damaging 0.99
Posted On2015-04-16