Mutagenetix > Incidental Mutation

Incidental Mutation 'R5073:Ncald'

389017

Institutional Source

Beutler Lab

Gene Symbol

Ncald

Ensembl Gene

ENSMUSG00000051359

Gene Name

neurocalcin delta

Synonyms

D030020D09Rik, D15Ertd412e

MMRRC Submission

042662-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5073 (G1)

Quality Score

225

Status

Validated

Chromosome

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

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: H67Q

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

SMART Domains

Protein: ENSMUSP00000112146
Gene: ENSMUSG00000051359
AA Change: H67Q

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: H67Q

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

SMART Domains

Protein: ENSMUSP00000113858
Gene: ENSMUSG00000051359
AA Change: H67Q

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: H67Q

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

SMART Domains

Protein: ENSMUSP00000112898
Gene: ENSMUSG00000051359
AA Change: H67Q

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 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

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: H67Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119726
Gene: ENSMUSG00000051359
AA Change: H67Q

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: H67Q

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

SMART Domains

Protein: ENSMUSP00000114576
Gene: ENSMUSG00000051359
AA Change: H67Q

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: H67Q

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

SMART Domains

Protein: ENSMUSP00000130126
Gene: ENSMUSG00000051359
AA Change: H67Q

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

0.5044

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 92.6%

Validation Efficiency

100% (113/113)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Adcy8	A	T	15: 64,659,207 (GRCm39)	W528R	probably damaging	Het
Agbl5	G	A	5: 31,060,403 (GRCm39)	R141Q	probably damaging	Het
Ahnak	T	A	19: 8,980,595 (GRCm39)	H626Q	probably benign	Het
Ampd2	A	T	3: 107,986,549 (GRCm39)	M245K	probably damaging	Het
Apob	G	A	12: 8,055,219 (GRCm39)		probably null	Het
Apool	C	T	X: 111,259,540 (GRCm39)	Q60*	probably null	Het
Aqp1	A	T	6: 55,322,520 (GRCm39)	I172F	probably damaging	Het
Atp7a	A	G	X: 105,153,374 (GRCm39)	D1092G	probably benign	Het
Bcas3	A	G	11: 85,261,958 (GRCm39)	Y110C	probably damaging	Het
Brpf1	T	C	6: 113,287,215 (GRCm39)	S148P	probably damaging	Het
Capn3	A	G	2: 120,322,301 (GRCm39)	H339R	probably damaging	Het
Ccdc141	A	T	2: 76,954,722 (GRCm39)		probably null	Het
Ccl2	A	G	11: 81,927,984 (GRCm39)		probably benign	Het
Cct8l1	G	A	5: 25,721,881 (GRCm39)	V199I	probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cit	T	A	5: 116,084,902 (GRCm39)	M811K	probably benign	Het
Crim1	T	C	17: 78,588,776 (GRCm39)	C284R	possibly damaging	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
Dbndd2	A	G	2: 164,332,224 (GRCm39)		probably benign	Het
Dnaja3	A	T	16: 4,514,289 (GRCm39)	T274S	probably damaging	Het
Dot1l	A	G	10: 80,620,480 (GRCm39)	D514G	possibly damaging	Het
Dysf	A	T	6: 84,114,254 (GRCm39)	K1226M	probably damaging	Het
Eef1akmt1	A	G	14: 57,803,464 (GRCm39)	L30P	probably damaging	Het
Elavl1	A	G	8: 4,351,741 (GRCm39)	M125T	possibly damaging	Het
Eml4	C	A	17: 83,771,006 (GRCm39)	S723R	probably damaging	Het
Fgf15	A	C	7: 144,450,576 (GRCm39)	Y54S	possibly damaging	Het
Fign	A	T	2: 63,810,037 (GRCm39)	L411*	probably null	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Fryl	G	A	5: 73,232,110 (GRCm39)	P1550L	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gprasp2	C	T	X: 134,743,346 (GRCm39)	T235I	possibly damaging	Het
H2ab3	T	C	X: 119,222,543 (GRCm39)	T84A	probably damaging	Het
Hal	A	T	10: 93,349,904 (GRCm39)	I555F	probably damaging	Het
Hdac6	A	G	X: 7,811,036 (GRCm39)	F104L	probably damaging	Het
Hibadh	C	T	6: 52,597,079 (GRCm39)	V122M	possibly damaging	Het
Hmga1b	C	T	11: 120,654,012 (GRCm39)	Q100*	probably null	Het
Hydin	A	G	8: 111,265,105 (GRCm39)	N2763D	probably benign	Het
Ifi47	A	G	11: 48,986,361 (GRCm39)	T43A	probably benign	Het
Ifnlr1	A	G	4: 135,432,457 (GRCm39)	T298A	probably benign	Het
Impdh2	G	A	9: 108,440,535 (GRCm39)		probably null	Het
Insr	A	G	8: 3,209,475 (GRCm39)	F1203L	probably damaging	Het
Kcnq4	A	G	4: 120,574,714 (GRCm39)	S117P	probably damaging	Het
Kif19a	G	A	11: 114,658,053 (GRCm39)	M37I	probably benign	Het
Kif1a	T	C	1: 92,950,227 (GRCm39)	H1400R	probably damaging	Het
Kiss1r	C	A	10: 79,754,596 (GRCm39)	S30*	probably null	Het
Krt222	T	A	11: 99,134,796 (GRCm39)		probably benign	Het
Lekr1	A	T	3: 65,727,215 (GRCm39)		noncoding transcript	Het
Ltn1	A	G	16: 87,224,628 (GRCm39)	V32A	probably damaging	Het
Marchf1	T	A	8: 66,839,020 (GRCm39)	W21R	probably benign	Het
Marchf5	A	G	19: 37,188,207 (GRCm39)	N58S	possibly damaging	Het
Mast4	G	A	13: 102,875,391 (GRCm39)	Q1158*	probably null	Het
Mib2	C	G	4: 155,741,233 (GRCm39)	A535P	probably damaging	Het
Mrtfa	A	G	15: 80,906,627 (GRCm39)	V91A	probably damaging	Het
Msc	C	T	1: 14,824,537 (GRCm39)	V178M	probably benign	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Muc5b	A	T	7: 141,412,999 (GRCm39)	T1982S	unknown	Het
Mvk	A	T	5: 114,591,013 (GRCm39)		probably benign	Het
Myo1a	T	C	10: 127,543,288 (GRCm39)		probably null	Het
Myo6	T	G	9: 80,195,290 (GRCm39)	S887A	probably benign	Het
Myo7a	G	A	7: 97,722,425 (GRCm39)	Q1167*	probably null	Het
Nmnat1	C	A	4: 149,553,595 (GRCm39)	M172I	probably benign	Het
Nudt1	G	T	5: 140,317,662 (GRCm39)		probably null	Het
Nudt5	T	A	2: 5,869,198 (GRCm39)	H141Q	probably benign	Het
Or1m1	T	C	9: 18,666,118 (GRCm39)	E271G	possibly damaging	Het
Or4e1	T	A	14: 52,701,032 (GRCm39)	M118L	probably damaging	Het
Or8h10	A	T	2: 86,808,666 (GRCm39)	V158D	possibly damaging	Het
Parp14	A	T	16: 35,655,077 (GRCm39)	I1798K	probably damaging	Het
Pcdhga7	A	G	18: 37,849,025 (GRCm39)	D344G	probably damaging	Het
Pck1	A	G	2: 172,998,770 (GRCm39)	T343A	probably benign	Het
Pik3c2g	T	A	6: 139,665,873 (GRCm39)	C65S	probably null	Het
Pilra	A	G	5: 137,833,674 (GRCm39)	F131L	probably damaging	Het
Ppl	A	T	16: 4,906,742 (GRCm39)	S1184R	probably benign	Het
Prmt2	C	T	10: 76,058,390 (GRCm39)	V140I	probably damaging	Het
Prpf38b	A	G	3: 108,818,484 (GRCm39)	F92S	probably damaging	Het
Psmc3	A	G	2: 90,884,915 (GRCm39)		probably benign	Het
Ptgs1	A	T	2: 36,141,272 (GRCm39)	N573I	probably damaging	Het
Rgs9	C	A	11: 109,118,157 (GRCm39)	A332S	probably benign	Het
Rptor	T	C	11: 119,787,305 (GRCm39)	I1290T	possibly damaging	Het
Slc38a7	C	A	8: 96,568,278 (GRCm39)	R369L	probably damaging	Het
Slc4a2	G	A	5: 24,643,760 (GRCm39)	S855N	probably benign	Het
Slco2a1	G	T	9: 102,923,925 (GRCm39)	L46F	probably damaging	Het
Snrpd3	G	T	10: 75,355,227 (GRCm39)	C20F	possibly damaging	Het
Stab2	A	T	10: 86,699,422 (GRCm39)	I481N	probably benign	Het
Tbc1d9	A	G	8: 83,960,176 (GRCm39)	E143G	probably damaging	Het
Tenm2	T	A	11: 35,959,208 (GRCm39)	T1114S	probably damaging	Het
Tg	A	C	15: 66,607,101 (GRCm39)	M213L	probably benign	Het
Tnc	A	G	4: 63,938,648 (GRCm39)	C64R	probably damaging	Het
Tpd52l1	A	G	10: 31,233,916 (GRCm39)	L79S	probably damaging	Het
Tpp2	C	A	1: 43,993,896 (GRCm39)	S260R	possibly damaging	Het
Tppp2	G	A	14: 52,157,912 (GRCm39)	R119Q	probably benign	Het
Tshz2	A	T	2: 169,804,493 (GRCm39)		probably benign	Het
Tuba8	T	C	6: 121,199,862 (GRCm39)	V182A	probably damaging	Het
Ufl1	A	G	4: 25,254,780 (GRCm39)	Y559H	probably benign	Het
Usp53	A	T	3: 122,727,595 (GRCm39)	S996T	probably benign	Het
Vcam1	A	G	3: 115,918,037 (GRCm39)	V308A	probably damaging	Het
Wdr17	T	A	8: 55,143,271 (GRCm39)		probably null	Het
Wdr6	G	A	9: 108,451,565 (GRCm39)	H773Y	probably damaging	Het
Wnk4	T	G	11: 101,152,014 (GRCm39)	F173V	probably damaging	Het
Xrcc5	T	C	1: 72,378,188 (GRCm39)	Y395H	probably damaging	Het
Zcwpw1	T	A	5: 137,793,781 (GRCm39)	M1K	probably null	Het
Zfp263	A	G	16: 3,564,704 (GRCm39)	R240G	possibly damaging	Het
Zfp652	A	G	11: 95,640,890 (GRCm39)	I272V	possibly 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
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'- CAGGGTCCTTACCTGTACAATCTC -3'
(R):5'- AATTCTTGTTGCCAGAATGGGG -3'

Sequencing Primer
(F):5'- ACCTGTACAATCTCCAGCATTTCTG -3'
(R):5'- AAGCTGCGCCCTGAAGTC -3'

Posted On

2016-06-06