Mutagenetix > Incidental Mutation

Incidental Mutation 'R0507:Ncald'

47692

Institutional Source

Beutler Lab

Gene Symbol

Ncald

Ensembl Gene

ENSMUSG00000051359

Gene Name

neurocalcin delta

Synonyms

D030020D09Rik, D15Ertd412e

MMRRC Submission

038702-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0507 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37366419-37792814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37397528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 51 (I51L)

Ref Sequence

ENSEMBL: ENSMUSP00000119726 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090150] [ENSMUST00000116445] [ENSMUST00000119730] [ENSMUST00000120746] [ENSMUST00000148652] [ENSMUST00000150453] [ENSMUST00000153775] [ENSMUST00000168992]

AlphaFold

Q91X97

Predicted Effect

probably benign
Transcript: ENSMUST00000090150
AA Change: I51L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000087611
Gene: ENSMUSG00000051359
AA Change: I51L

Domain	Start	End	E-Value	Type
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: I51L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112146
Gene: ENSMUSG00000051359
AA Change: I51L

Domain	Start	End	E-Value	Type
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: ENSMUST00000119730
AA Change: I51L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113858
Gene: ENSMUSG00000051359
AA Change: I51L

Domain	Start	End	E-Value	Type
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: I51L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112898
Gene: ENSMUSG00000051359
AA Change: I51L

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000148652
AA Change: I51L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000121460
Gene: ENSMUSG00000051359
AA Change: I51L

Domain	Start	End	E-Value	Type
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: ENSMUST00000150453
AA Change: I51L

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000119726
Gene: ENSMUSG00000051359
AA Change: I51L

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000153775
AA Change: I51L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000114576
Gene: ENSMUSG00000051359
AA Change: I51L

Domain	Start	End	E-Value	Type
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: I51L

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000130126
Gene: ENSMUSG00000051359
AA Change: I51L

Domain	Start	End	E-Value	Type
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

0.1305

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (72/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,838,655 (GRCm39)		probably benign	Het
Adamts16	T	C	13: 70,916,766 (GRCm39)	D742G	probably benign	Het
Akap9	G	A	5: 4,119,043 (GRCm39)	E3517K	probably benign	Het
Arfgef3	T	C	10: 18,467,369 (GRCm39)	T1944A	probably damaging	Het
Bsx	A	G	9: 40,787,796 (GRCm39)		probably benign	Het
Cct2	A	T	10: 116,891,151 (GRCm39)		probably null	Het
Cdkl4	T	C	17: 80,851,237 (GRCm39)	D155G	probably benign	Het
Cep250	C	T	2: 155,834,452 (GRCm39)	R2126C	possibly damaging	Het
Cep97	A	T	16: 55,726,245 (GRCm39)		probably benign	Het
Cpne3	C	T	4: 19,532,544 (GRCm39)		probably benign	Het
Csmd1	T	C	8: 16,235,358 (GRCm39)		probably benign	Het
Cx3cr1	C	A	9: 119,881,022 (GRCm39)	D127Y	probably damaging	Het
Dcdc2a	A	G	13: 25,286,572 (GRCm39)	Q165R	probably damaging	Het
Ddx17	A	G	15: 79,421,758 (GRCm39)		probably benign	Het
Dicer1	A	G	12: 104,657,917 (GRCm39)	S1886P	probably damaging	Het
Egf	T	C	3: 129,474,828 (GRCm39)	D571G	possibly damaging	Het
Fyb1	A	G	15: 6,664,297 (GRCm39)	D460G	probably benign	Het
Gbp2	G	T	3: 142,335,794 (GRCm39)	D165Y	probably damaging	Het
Gm14412	A	T	2: 177,006,325 (GRCm39)	N523K	possibly damaging	Het
Gsap	C	T	5: 21,474,961 (GRCm39)	T540I	possibly damaging	Het
Gucy2d	C	A	7: 98,108,209 (GRCm39)		probably null	Het
Icam4	C	A	9: 20,940,799 (GRCm39)	P17Q	possibly damaging	Het
Lyz1	A	T	10: 117,125,022 (GRCm39)		probably null	Het
Matcap1	T	C	8: 106,011,351 (GRCm39)	N261S	probably damaging	Het
Mbd6	A	G	10: 127,119,389 (GRCm39)		probably benign	Het
Mroh3	A	T	1: 136,118,718 (GRCm39)	I533N	probably damaging	Het
Muc4	A	T	16: 32,569,887 (GRCm39)	M316L	probably benign	Het
Myof	A	G	19: 37,889,725 (GRCm39)	I1282T	possibly damaging	Het
Negr1	T	A	3: 156,267,862 (GRCm39)	S11T	probably damaging	Het
Obscn	T	C	11: 58,920,167 (GRCm39)	N6735D	probably damaging	Het
Or52n4b	T	C	7: 108,144,292 (GRCm39)	S185P	probably damaging	Het
Or5b105	G	A	19: 13,080,642 (GRCm39)	R3C	possibly damaging	Het
Or6c1b	A	T	10: 129,273,157 (GRCm39)	M159L	probably benign	Het
Or9q1	T	A	19: 13,805,140 (GRCm39)	I207F	possibly damaging	Het
Otogl	A	G	10: 107,702,601 (GRCm39)	V684A	possibly damaging	Het
Palm3	A	G	8: 84,754,958 (GRCm39)	T157A	probably benign	Het
Pard3	T	A	8: 128,097,967 (GRCm39)		probably benign	Het
Pcdh15	A	G	10: 74,457,129 (GRCm39)	D1302G	probably damaging	Het
Pi16	G	A	17: 29,546,826 (GRCm39)	E467K	possibly damaging	Het
Plec	A	T	15: 76,056,983 (GRCm39)	I4183N	probably damaging	Het
Ppp1r13l	T	C	7: 19,109,739 (GRCm39)	L720P	possibly damaging	Het
Prag1	A	G	8: 36,571,277 (GRCm39)	E620G	probably damaging	Het
Ralbp1	G	A	17: 66,156,955 (GRCm39)	T646M	probably benign	Het
Rnf182	T	G	13: 43,821,823 (GRCm39)	S125A	probably benign	Het
Rpe	C	T	1: 66,754,300 (GRCm39)	T124I	probably benign	Het
Rufy4	T	C	1: 74,185,875 (GRCm39)	I514T	probably benign	Het
Sec13	A	T	6: 113,712,080 (GRCm39)	I85N	probably damaging	Het
Siglec1	C	T	2: 130,916,445 (GRCm39)		probably benign	Het
Skint5	T	C	4: 113,425,127 (GRCm39)		probably null	Het
Slc4a3	T	A	1: 75,532,725 (GRCm39)	I995K	probably damaging	Het
Smyd4	T	A	11: 75,290,534 (GRCm39)	S545T	possibly damaging	Het
Steap3	C	T	1: 120,169,313 (GRCm39)	R328H	possibly damaging	Het
Tgm6	G	A	2: 129,980,751 (GRCm39)	E183K	possibly damaging	Het
Themis	T	A	10: 28,657,828 (GRCm39)	V132E	possibly damaging	Het
Thsd1	T	A	8: 22,748,695 (GRCm39)	I461N	probably damaging	Het
Ttk	T	G	9: 83,750,120 (GRCm39)	S692A	probably damaging	Het
Twf1	A	G	15: 94,483,411 (GRCm39)	M99T	probably damaging	Het
Uchl3	T	A	14: 101,904,443 (GRCm39)	L89*	probably null	Het
Uhmk1	A	G	1: 170,034,760 (GRCm39)	V316A	probably damaging	Het
Unc80	A	G	1: 66,567,052 (GRCm39)	N886S	possibly damaging	Het
Vash2	G	T	1: 190,699,115 (GRCm39)		probably benign	Het
Vmn1r200	G	A	13: 22,579,718 (GRCm39)	E174K	probably benign	Het
Vps16	T	C	2: 130,279,632 (GRCm39)		probably null	Het
Wdr73	T	C	7: 80,541,594 (GRCm39)	E316G	possibly damaging	Het
Xpo1	T	C	11: 23,244,682 (GRCm39)	V1020A	possibly damaging	Het
Ylpm1	T	A	12: 85,075,886 (GRCm39)	N870K	probably benign	Het
Zfhx4	C	T	3: 5,466,048 (GRCm39)	Q2069*	probably null	Het
Zfp1005	T	A	2: 150,110,044 (GRCm39)	C245S	possibly damaging	Het
Zfp512b	C	A	2: 181,226,757 (GRCm39)		probably benign	Het

Other mutations in Ncald

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R5071:Ncald	UTSW	15	37,397,478 (GRCm39)	missense	probably damaging	1.00
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'- TGCTGATGTAGCCATTGCCATCC -3'
(R):5'- TGATCGCATGACCCTAAAGGACCG -3'

Sequencing Primer
(F):5'- TCCAGGTCATACATGCTGAAG -3'
(R):5'- CTTTCTCTTTGCAGTTGAATTCTTG -3'

Posted On

2013-06-12