Incidental Mutation 'R5071:Ncald'
ID 388815
Institutional Source Beutler Lab
Gene Symbol Ncald
Ensembl Gene ENSMUSG00000051359
Gene Name neurocalcin delta
Synonyms D030020D09Rik, D15Ertd412e
MMRRC Submission 042661-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5071 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 37366419-37792814 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37397478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 67 (H67Q)
Ref Sequence ENSEMBL: ENSMUSP00000130126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090150] [ENSMUST00000116445] [ENSMUST00000119730] [ENSMUST00000120746] [ENSMUST00000148652] [ENSMUST00000150453] [ENSMUST00000153775] [ENSMUST00000168992]
AlphaFold Q91X97
Predicted Effect probably damaging
Transcript: ENSMUST00000090150
AA Change: H67Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087611
Gene: ENSMUSG00000051359
AA Change: H67Q

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 damaging
Transcript: ENSMUST00000116445
AA Change: H67Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112146
Gene: ENSMUSG00000051359
AA Change: H67Q

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 damaging
Transcript: ENSMUST00000119730
AA Change: H67Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113858
Gene: ENSMUSG00000051359
AA Change: H67Q

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 damaging
Transcript: ENSMUST00000120746
AA Change: H67Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112898
Gene: ENSMUSG00000051359
AA Change: H67Q

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: ENSMUST00000132423
Predicted Effect probably damaging
Transcript: ENSMUST00000148652
AA Change: H67Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121460
Gene: ENSMUSG00000051359
AA Change: H67Q

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 damaging
Transcript: ENSMUST00000150453
AA Change: H67Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119726
Gene: ENSMUSG00000051359
AA Change: H67Q

DomainStartEndE-ValueType
Pfam:EF-hand_7 3 88 3.9e-8 PFAM
Pfam:EF-hand_8 39 88 8.2e-8 PFAM
Pfam:EF-hand_1 64 88 5e-8 PFAM
Pfam:EF-hand_6 64 88 1.6e-6 PFAM
Pfam:EF-hand_5 65 86 2.5e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153775
AA Change: H67Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114576
Gene: ENSMUSG00000051359
AA Change: H67Q

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 damaging
Transcript: ENSMUST00000168992
AA Change: H67Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130126
Gene: ENSMUSG00000051359
AA Change: H67Q

DomainStartEndE-ValueType
EFh 64 92 4.19e-4 SMART
EFh 100 128 4.7e-7 SMART
EFh 148 176 1.95e-4 SMART
Meta Mutation Damage Score 0.5044 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.3%
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy8 A T 15: 64,659,207 (GRCm39) W528R probably damaging Het
Agbl1 A G 7: 76,071,665 (GRCm39) E329G probably damaging Het
Agbl5 G A 5: 31,060,403 (GRCm39) R141Q probably damaging Het
AI182371 A T 2: 34,975,227 (GRCm39) I334N probably benign Het
Aldh1b1 A G 4: 45,803,383 (GRCm39) probably null Het
Armc9 G A 1: 86,113,838 (GRCm39) M298I probably benign Het
Atp8a1 T A 5: 67,973,066 (GRCm39) K27N probably benign Het
BC004004 G A 17: 29,513,389 (GRCm39) probably null Het
Ccdc83 A T 7: 89,899,737 (GRCm39) F45Y probably damaging Het
Cct8l1 G A 5: 25,721,881 (GRCm39) V199I probably benign Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Cdh17 G T 4: 11,810,325 (GRCm39) G672V probably damaging Het
Cdh5 C A 8: 104,867,334 (GRCm39) T537K probably damaging Het
Chd1 T A 17: 15,982,667 (GRCm39) S1377R probably benign Het
Chd2 T C 7: 73,079,437 (GRCm39) N1821S probably benign Het
Cnot3 A G 7: 3,653,860 (GRCm39) K4R probably damaging Het
Colq T A 14: 31,250,789 (GRCm39) I339F possibly damaging Het
Coq2 A T 5: 100,815,816 (GRCm39) L121Q probably damaging Het
Csnk1e G A 15: 79,305,072 (GRCm39) R342* probably null Het
Cstl1 A T 2: 148,592,847 (GRCm39) M1L probably benign Het
Cwh43 A G 5: 73,581,256 (GRCm39) probably null Het
Cyp2a22 A T 7: 26,631,906 (GRCm39) F450Y probably benign Het
Cyp2d10 C T 15: 82,287,954 (GRCm39) R383H probably benign Het
Cyp4a29 A G 4: 115,104,860 (GRCm39) T123A probably benign Het
Dgkh T C 14: 78,841,972 (GRCm39) K417E probably damaging Het
Dnah11 A T 12: 118,046,188 (GRCm39) L1750* probably null Het
Edn1 A G 13: 42,457,153 (GRCm39) E62G probably damaging Het
Eef1akmt1 A G 14: 57,803,464 (GRCm39) L30P probably damaging Het
Fbxo42 T C 4: 140,926,256 (GRCm39) W313R probably damaging Het
Fign A T 2: 63,810,037 (GRCm39) L411* probably null Het
Fitm1 T A 14: 55,813,230 (GRCm39) V31E possibly damaging Het
Fryl G A 5: 73,232,110 (GRCm39) P1550L probably damaging Het
Gabrd A C 4: 155,471,619 (GRCm39) F228C probably damaging Het
Gm5916 A C 9: 36,039,964 (GRCm39) L8R probably benign Het
Gpr108 A G 17: 57,542,335 (GRCm39) S557P probably damaging Het
Gpr75 C A 11: 30,842,380 (GRCm39) N428K probably damaging Het
H2-M5 T G 17: 37,298,076 (GRCm39) probably null Het
Hdac6 A G X: 7,811,036 (GRCm39) F104L probably damaging Homo
Homer3 T C 8: 70,744,005 (GRCm39) V243A probably benign Het
Hspg2 T C 4: 137,267,541 (GRCm39) S2050P probably damaging Het
Hydin A G 8: 111,265,105 (GRCm39) N2763D probably benign Het
Ifi203 T C 1: 173,762,676 (GRCm39) Q152R possibly damaging Het
Ifi44 T C 3: 151,455,269 (GRCm39) probably benign Het
Ifi47 A G 11: 48,986,361 (GRCm39) T43A probably benign Het
Ighv1-24 A G 12: 114,736,748 (GRCm39) Y51H probably benign Het
Inf2 A T 12: 112,578,473 (GRCm39) probably null Het
Insl6 T C 19: 29,302,655 (GRCm39) R21G probably benign Het
Kif19a G A 11: 114,658,053 (GRCm39) M37I probably benign Het
Ltbp3 T C 19: 5,806,851 (GRCm39) C1043R probably damaging Het
Mpeg1 T A 19: 12,438,545 (GRCm39) M1K probably null Het
Mrtfa A G 15: 80,906,627 (GRCm39) V91A probably damaging Het
Muc21 G A 17: 35,931,444 (GRCm39) probably benign Het
Nek9 C A 12: 85,374,233 (GRCm39) R268L possibly damaging Het
Nudt5 T A 2: 5,869,198 (GRCm39) H141Q probably benign Het
Numbl G A 7: 26,980,415 (GRCm39) D466N probably damaging Het
Or14c46 A G 7: 85,918,799 (GRCm39) I66T probably damaging Het
Or2l5 A G 16: 19,333,777 (GRCm39) I203T probably benign Het
Or4c100 T C 2: 88,356,385 (GRCm39) S153P probably damaging Het
Or51l14 A T 7: 103,100,617 (GRCm39) E24D probably benign Het
Or52n2c A C 7: 104,574,700 (GRCm39) N90K probably benign Het
Or6x1 T C 9: 40,098,960 (GRCm39) L183S probably damaging Het
Or8h10 A T 2: 86,808,666 (GRCm39) V158D possibly damaging Het
Pik3c2g T A 6: 139,665,873 (GRCm39) C65S probably null Het
Plagl1 A G 10: 13,003,005 (GRCm39) Y91C probably damaging Het
Polr1a A G 6: 71,908,693 (GRCm39) N506S possibly damaging Het
Pomt2 A C 12: 87,180,234 (GRCm39) C256G probably damaging Het
Psg29 T A 7: 16,945,763 (GRCm39) D444E probably damaging Het
Ptgs1 A T 2: 36,141,272 (GRCm39) N573I probably damaging Het
Ptprf C A 4: 118,069,196 (GRCm39) G1624W probably damaging Het
Rbm38 C T 2: 172,863,875 (GRCm39) P15S probably benign Het
Rc3h1 A G 1: 160,787,047 (GRCm39) D814G possibly damaging Het
Rnf40 T C 7: 127,196,458 (GRCm39) L802P probably damaging Het
Rusc2 A G 4: 43,415,240 (GRCm39) D182G probably benign Het
Setd1b A G 5: 123,298,977 (GRCm39) probably benign Het
Slc4a2 G A 5: 24,643,760 (GRCm39) S855N probably benign Het
Slc8a2 T C 7: 15,884,508 (GRCm39) L626P possibly damaging Het
Slirp A G 12: 87,490,784 (GRCm39) T29A probably damaging Het
Smarcc2 A G 10: 128,299,809 (GRCm39) D158G probably damaging Het
Sptbn1 A G 11: 30,063,854 (GRCm39) probably null Het
St3gal5 T C 6: 72,109,037 (GRCm39) C42R probably damaging Het
Syt7 T C 19: 10,420,792 (GRCm39) S397P possibly damaging Het
Tenm2 T A 11: 35,959,208 (GRCm39) T1114S probably damaging Het
Thada T A 17: 84,693,960 (GRCm39) D1263V probably damaging Het
Tmco3 G T 8: 13,342,860 (GRCm39) E199* probably null Het
Tpcn1 A T 5: 120,686,334 (GRCm39) probably null Het
Tppp2 G A 14: 52,157,912 (GRCm39) R119Q probably benign Het
Trim30d A C 7: 104,137,165 (GRCm39) V13G probably damaging Het
Ubxn2b A T 4: 6,214,746 (GRCm39) Q260L probably damaging Het
Ufl1 A G 4: 25,254,780 (GRCm39) Y559H probably benign Het
Usp5 A G 6: 124,803,342 (GRCm39) F7L probably benign Het
Utrn A T 10: 12,259,948 (GRCm39) probably null Het
Vmn1r28 A T 6: 58,242,894 (GRCm39) I246F probably benign Het
Vmn2r2 C A 3: 64,024,321 (GRCm39) M753I probably benign Het
Zbtb26 T C 2: 37,325,941 (GRCm39) H365R probably benign Het
Zfp976 A T 7: 42,262,354 (GRCm39) Y494* probably null Het
Other mutations in Ncald
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00908:Ncald APN 15 37,372,451 (GRCm39) missense possibly damaging 0.78
IGL02373:Ncald APN 15 37,372,453 (GRCm39) missense probably benign 0.05
R0507:Ncald UTSW 15 37,397,528 (GRCm39) missense probably benign 0.03
R1168:Ncald UTSW 15 37,397,578 (GRCm39) missense probably damaging 0.99
R1700:Ncald UTSW 15 37,397,587 (GRCm39) missense probably benign 0.04
R1914:Ncald UTSW 15 37,397,324 (GRCm39) missense probably benign 0.00
R1915:Ncald UTSW 15 37,397,324 (GRCm39) missense probably benign 0.00
R2057:Ncald UTSW 15 37,397,423 (GRCm39) missense possibly damaging 0.93
R3873:Ncald UTSW 15 37,397,497 (GRCm39) missense probably damaging 1.00
R4612:Ncald UTSW 15 37,397,593 (GRCm39) missense probably benign 0.04
R5073:Ncald UTSW 15 37,397,478 (GRCm39) missense probably damaging 1.00
R5074:Ncald UTSW 15 37,397,478 (GRCm39) missense probably damaging 1.00
R6183:Ncald UTSW 15 37,397,476 (GRCm39) missense probably damaging 1.00
R7036:Ncald UTSW 15 37,369,122 (GRCm39) missense probably benign 0.00
R7334:Ncald UTSW 15 37,397,524 (GRCm39) missense probably damaging 0.99
R7764:Ncald UTSW 15 37,397,454 (GRCm39) missense probably damaging 1.00
R8286:Ncald UTSW 15 37,397,505 (GRCm39) nonsense probably null
R8983:Ncald UTSW 15 37,397,512 (GRCm39) missense probably damaging 1.00
R9488:Ncald UTSW 15 37,372,369 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTCCTTACCTGTACAATCTCCAG -3'
(R):5'- AATTCTTGTTGCCAGAATGGGG -3'

Sequencing Primer
(F):5'- ACCTGTACAATCTCCAGCATTTCTG -3'
(R):5'- AAGCTGCGCCCTGAAGTC -3'
Posted On 2016-06-06