Mutagenetix > Incidental Mutation

Incidental Mutation 'R8983:Ncald'

683846

Institutional Source

Beutler Lab

Gene Symbol

Ncald

Ensembl Gene

ENSMUSG00000051359

Gene Name

neurocalcin delta

Synonyms

D030020D09Rik, D15Ertd412e

MMRRC Submission

068816-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37366419-37792814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37397512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 56 (F56S)

Ref Sequence

ENSEMBL: ENSMUSP00000087611 (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: F56S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087611
Gene: ENSMUSG00000051359
AA Change: F56S

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 damaging
Transcript: ENSMUST00000116445
AA Change: F56S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112146
Gene: ENSMUSG00000051359
AA Change: F56S

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 damaging
Transcript: ENSMUST00000119730
AA Change: F56S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113858
Gene: ENSMUSG00000051359
AA Change: F56S

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 damaging
Transcript: ENSMUST00000120746
AA Change: F56S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112898
Gene: ENSMUSG00000051359
AA Change: F56S

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 damaging
Transcript: ENSMUST00000148652
AA Change: F56S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121460
Gene: ENSMUSG00000051359
AA Change: F56S

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 damaging
Transcript: ENSMUST00000150453
AA Change: F56S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119726
Gene: ENSMUSG00000051359
AA Change: F56S

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 damaging
Transcript: ENSMUST00000153775
AA Change: F56S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114576
Gene: ENSMUSG00000051359
AA Change: F56S

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 damaging
Transcript: ENSMUST00000168992
AA Change: F56S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130126
Gene: ENSMUSG00000051359
AA Change: F56S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (61/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	A	T	2: 151,313,272 (GRCm39)	F632I	unknown	Het
5730522E02Rik	T	C	11: 25,719,069 (GRCm39)	T26A	unknown	Het
Ablim1	A	T	19: 57,227,644 (GRCm39)	V7E	probably benign	Het
Adcy5	T	G	16: 34,977,232 (GRCm39)	L255R	possibly damaging	Het
Ahnak	C	A	19: 8,981,477 (GRCm39)	N920K	possibly damaging	Het
Arhgef11	A	G	3: 87,640,508 (GRCm39)	K1251E		Het
Astn1	T	A	1: 158,491,700 (GRCm39)		probably null	Het
Atxn2	A	G	5: 121,916,063 (GRCm39)	Y423C	probably damaging	Het
Ccdc180	T	A	4: 45,909,359 (GRCm39)	V509D	possibly damaging	Het
Ccdc80	T	C	16: 44,924,780 (GRCm39)	V638A	possibly damaging	Het
Ccr6	T	G	17: 8,474,878 (GRCm39)	C28G	probably damaging	Het
Cdca7l	A	G	12: 117,828,902 (GRCm39)		probably benign	Het
Cnot3	T	C	7: 3,654,328 (GRCm39)	I52T	probably damaging	Het
Cped1	A	T	6: 22,138,686 (GRCm39)	N555I	probably benign	Het
Cpne6	A	T	14: 55,753,711 (GRCm39)	I390F	probably damaging	Het
Dlec1	A	G	9: 118,957,419 (GRCm39)	D836G	probably benign	Het
Dnah8	T	A	17: 31,070,628 (GRCm39)	V4438D	probably damaging	Het
Dok3	G	T	13: 55,671,535 (GRCm39)	N345K	probably damaging	Het
Eea1	C	T	10: 95,855,741 (GRCm39)	Q593*	probably null	Het
Eif3m	T	C	2: 104,830,139 (GRCm39)	Y351C	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Epn3	T	C	11: 94,386,914 (GRCm39)	E152G	probably damaging	Het
Faf2	A	G	13: 54,769,726 (GRCm39)	S25G	probably benign	Het
Fam83b	A	G	9: 76,400,357 (GRCm39)	S249P	probably damaging	Het
Fgl1	A	T	8: 41,653,496 (GRCm39)	S132R	probably benign	Het
Frem3	A	G	8: 81,395,875 (GRCm39)	E1890G	probably damaging	Het
Gpc5	T	A	14: 115,330,118 (GRCm39)	S94T	unknown	Het
Hectd1	A	G	12: 51,791,410 (GRCm39)	V2584A	probably damaging	Het
Kifc3	G	A	8: 95,833,104 (GRCm39)	A498V	probably damaging	Het
Klra6	T	C	6: 129,999,573 (GRCm39)	T132A	probably benign	Het
Loricrin	T	C	3: 91,988,446 (GRCm39)	Y280C	unknown	Het
Lpin2	C	T	17: 71,553,962 (GRCm39)	A931V	unknown	Het
Lpxn	A	G	19: 12,810,522 (GRCm39)	H322R	probably damaging	Het
Megf9	A	G	4: 70,353,634 (GRCm39)	S391P	probably benign	Het
Mipep	G	A	14: 61,080,702 (GRCm39)	V565I	probably benign	Het
Mmrn1	C	T	6: 60,953,042 (GRCm39)	T441I	probably benign	Het
Mrpl48	T	C	7: 100,223,702 (GRCm39)	N14S	probably benign	Het
Or9g3	T	C	2: 85,584,251 (GRCm39)		probably benign	Het
Pals1	G	A	12: 78,884,298 (GRCm39)	D640N	probably damaging	Het
Plcd3	A	G	11: 102,962,092 (GRCm39)	V703A	possibly damaging	Het
Potefam1	A	G	2: 111,030,701 (GRCm39)	S403P	probably benign	Het
Prss59	A	G	6: 40,897,934 (GRCm39)	S250P	possibly damaging	Het
Qser1	T	C	2: 104,617,702 (GRCm39)	I947V	probably benign	Het
Rdx	G	A	9: 51,974,905 (GRCm39)	A14T	probably damaging	Het
Rnf213	A	G	11: 119,321,175 (GRCm39)	D1211G		Het
Sbpl	T	C	17: 24,172,253 (GRCm39)	D222G	unknown	Het
Scn8a	C	A	15: 100,900,030 (GRCm39)	T703K	possibly damaging	Het
Setbp1	A	G	18: 78,902,459 (GRCm39)	S403P	probably benign	Het
Sfmbt2	A	G	2: 10,409,267 (GRCm39)	S71G	probably damaging	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,775 (GRCm39)		probably benign	Het
Smco3	C	T	6: 136,808,730 (GRCm39)	G48D	possibly damaging	Het
Spag9	T	C	11: 93,958,815 (GRCm39)	S280P	probably benign	Het
Thada	T	C	17: 84,538,515 (GRCm39)	T1498A	probably benign	Het
Tmprss7	T	C	16: 45,481,263 (GRCm39)	D641G	probably damaging	Het
Top6bl	T	C	19: 4,695,714 (GRCm39)	I513V	possibly damaging	Het
Trim43a	A	G	9: 88,464,404 (GRCm39)	D105G	probably benign	Het
Utp14b	T	A	1: 78,643,003 (GRCm39)	N300K	probably benign	Het
Vmn2r83	T	G	10: 79,327,360 (GRCm39)	I656S	probably damaging	Het
Zfp646	A	T	7: 127,480,777 (GRCm39)	M985L	probably benign	Het
Zfp777	A	T	6: 48,006,158 (GRCm39)	L412Q	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
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
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
R9488:Ncald	UTSW	15	37,372,369 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCATCCAGGTCATACATGCTG -3'
(R):5'- ATCGCATGACCCTAAAGGAC -3'

Sequencing Primer
(F):5'- TCCAGGTCATACATGCTGAAGGC -3'
(R):5'- CAGTTGAATTCTTGTTGCCAGAATG -3'

Posted On

2021-10-11