Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02373:Ncald'

290999

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ncald

Ensembl Gene

ENSMUSG00000051359

Gene Name

neurocalcin delta

Synonyms

D030020D09Rik, D15Ertd412e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02373

Quality Score

Status

Chromosome

Chromosomal Location

37366419-37792814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37372453 bp (GRCm39)

Zygosity

Heterozygous

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]

AlphaFold

Q91X97

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

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: M131L

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112146
Gene: ENSMUSG00000051359
AA Change: M131L

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: 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

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: M131L

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000112898
Gene: ENSMUSG00000051359
AA Change: M131L

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: ENSMUST00000148652
AA Change: M131L

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000121460
Gene: ENSMUSG00000051359
AA Change: M131L

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: ENSMUST00000153775
AA Change: M131L

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000114576
Gene: ENSMUSG00000051359
AA Change: M131L

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: M131L

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000130126
Gene: ENSMUSG00000051359
AA Change: M131L

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: 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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	C	T	4: 86,168,042 (GRCm39)	L462F	probably damaging	Het
Adgrv1	T	C	13: 81,607,832 (GRCm39)	D4080G	possibly damaging	Het
Apc	A	C	18: 34,449,212 (GRCm39)	D2002A	probably damaging	Het
Apobr	T	A	7: 126,184,563 (GRCm39)	F25I	probably damaging	Het
Cyp4a10	T	A	4: 115,378,274 (GRCm39)	L120*	probably null	Het
Daam2	A	G	17: 49,780,408 (GRCm39)	S704P	probably damaging	Het
Dcst1	G	T	3: 89,265,198 (GRCm39)	N217K	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fmn1	C	A	2: 113,194,471 (GRCm39)	P57Q	unknown	Het
Galnt1	G	A	18: 24,413,092 (GRCm39)	G464D	possibly damaging	Het
Ggcx	T	A	6: 72,404,902 (GRCm39)	W437R	probably damaging	Het
Igkv13-54-1	T	C	6: 69,594,304 (GRCm39)		noncoding transcript	Het
Iglon5	T	C	7: 43,128,643 (GRCm39)	E58G	probably benign	Het
Met	C	T	6: 17,491,528 (GRCm39)	P97S	probably damaging	Het
Msantd5f6	T	C	4: 73,321,880 (GRCm39)	M52V	probably benign	Het
Myg1	T	A	15: 102,245,268 (GRCm39)	M158K	probably damaging	Het
Nipa2	T	C	7: 55,582,876 (GRCm39)	I290V	probably benign	Het
Or4f14b	C	A	2: 111,775,178 (GRCm39)	V208L	probably benign	Het
Or5p79	A	T	7: 108,221,310 (GRCm39)	Y97F	probably benign	Het
Or6c219	A	G	10: 129,781,334 (GRCm39)	L84S	probably benign	Het
Ppfia3	C	T	7: 45,008,273 (GRCm39)	R48Q	probably damaging	Het
Rab12	A	G	17: 66,805,060 (GRCm39)	L156P	probably damaging	Het
Slc28a3	C	T	13: 58,726,218 (GRCm39)		probably null	Het
Slc4a11	T	C	2: 130,526,818 (GRCm39)	N770S	probably benign	Het
Tanc1	T	C	2: 59,626,372 (GRCm39)		probably null	Het
Vmn2r130	A	T	17: 23,295,866 (GRCm39)	R679*	probably null	Het
Vwa5b2	G	A	16: 20,423,594 (GRCm39)	R1169H	probably damaging	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
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
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

Posted On

2015-04-16