Mutagenetix > Incidental Mutation

Incidental Mutation 'R5813:Ncs1'

447595

Institutional Source

Beutler Lab

Gene Symbol

Ncs1

Ensembl Gene

ENSMUSG00000062661

Gene Name

neuronal calcium sensor 1

Synonyms

9430075O15Rik, NCS-1, A730032G13Rik, Freq

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R5813 (G1)

Quality Score

133

Status

Not validated

Chromosome

Chromosomal Location

31135835-31186001 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 31170666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000000199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000199] [ENSMUST00000150670]

AlphaFold

Q8BNY6

Predicted Effect

probably null
Transcript: ENSMUST00000000199

SMART Domains

Protein: ENSMUSP00000000199
Gene: ENSMUSG00000062661

Domain	Start	End	E-Value	Type
EFh	64	92	1.9e-2	SMART
EFh	100	128	3.76e-6	SMART
EFh	148	176	3.4e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150670

SMART Domains

Protein: ENSMUSP00000142269
Gene: ENSMUSG00000062661

Domain	Start	End	E-Value	Type
PDB:4OV2\|D	1	28	6e-8	PDB
SCOP:d1fpwa_	1	28	1e-4	SMART
low complexity region	37	57	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	A	G	3: 89,253,135 (GRCm39)	Y230H	probably benign	Het
Ano7	G	T	1: 93,312,641 (GRCm39)		probably null	Het
Arap2	T	C	5: 62,834,506 (GRCm39)	Y792C	probably damaging	Het
Art3	C	A	5: 92,560,100 (GRCm39)		probably benign	Het
Atad2	C	T	15: 57,963,250 (GRCm39)	G1085D	probably benign	Het
Birc6	C	A	17: 74,953,497 (GRCm39)	A3253E	probably damaging	Het
C9	C	T	15: 6,526,607 (GRCm39)	P547L	probably benign	Het
Cecr2	T	C	6: 120,739,169 (GRCm39)	S1271P	probably damaging	Het
Ces1e	T	A	8: 93,948,305 (GRCm39)	K105*	probably null	Het
Cpsf4	A	G	5: 145,115,683 (GRCm39)	N204S	probably benign	Het
Cracd	A	G	5: 77,006,275 (GRCm39)	T879A	unknown	Het
Dgkz	T	C	2: 91,769,733 (GRCm39)	D615G	possibly damaging	Het
Disp1	G	T	1: 182,869,974 (GRCm39)	N815K	probably damaging	Het
Enah	A	G	1: 181,758,750 (GRCm39)		probably benign	Het
Fcgbp	A	G	7: 27,800,919 (GRCm39)	T1322A	possibly damaging	Het
Frem1	A	G	4: 82,918,395 (GRCm39)	F516L	probably damaging	Het
Fry	G	A	5: 150,323,136 (GRCm39)	A1096T	probably damaging	Het
Fyco1	T	C	9: 123,660,413 (GRCm39)	Y190C	probably damaging	Het
Gfra1	T	C	19: 58,227,687 (GRCm39)	D417G	probably benign	Het
Gigyf2	T	C	1: 87,368,485 (GRCm39)	I1055T	probably damaging	Het
Invs	A	G	4: 48,398,146 (GRCm39)	E444G	probably damaging	Het
Itga10	A	G	3: 96,559,901 (GRCm39)	T519A	probably benign	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kdm2b	A	G	5: 123,009,931 (GRCm39)	S727P	probably benign	Het
Kidins220	A	T	12: 25,107,139 (GRCm39)	K1531*	probably null	Het
Ksr1	C	T	11: 78,929,024 (GRCm39)	V266M	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lipi	T	C	16: 75,370,798 (GRCm39)	R140G	possibly damaging	Het
Lrrc32	T	C	7: 98,147,618 (GRCm39)	S133P	probably damaging	Het
Map3k7	T	A	4: 31,964,318 (GRCm39)	I19N	probably damaging	Het
Marf1	A	G	16: 13,970,449 (GRCm39)	V90A	probably benign	Het
Mark3	T	C	12: 111,621,877 (GRCm39)	L673P	probably damaging	Het
Meis1	T	C	11: 18,966,229 (GRCm39)	H48R	probably benign	Het
Mettl26	G	A	17: 26,094,995 (GRCm39)	V87M	probably damaging	Het
Mknk2	T	C	10: 80,511,696 (GRCm39)	R5G	probably benign	Het
Mtcl3	G	T	10: 29,026,240 (GRCm39)	V441F	probably damaging	Het
Mterf1b	T	C	5: 4,246,956 (GRCm39)	V199A	possibly damaging	Het
Nek10	T	C	14: 14,986,704 (GRCm38)	V1014A	probably benign	Het
Notch2	A	G	3: 98,042,744 (GRCm39)	N1370D	probably benign	Het
Nr2e3	TCCATCGGAGTGTTCCC	TC	9: 59,850,701 (GRCm39)		probably benign	Het
Opn5	C	G	17: 42,903,897 (GRCm39)	R146T	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5m3	T	C	2: 85,838,636 (GRCm39)	I172T	probably damaging	Het
Or8b55	T	A	9: 38,726,952 (GRCm39)	M51K	probably benign	Het
Or8g33	A	G	9: 39,338,032 (GRCm39)	C112R	probably damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Pcyox1l	C	T	18: 61,832,359 (GRCm39)		probably null	Het
Plxnb2	T	C	15: 89,044,962 (GRCm39)	T1128A	possibly damaging	Het
Prex1	T	C	2: 166,425,127 (GRCm39)	T960A	probably benign	Het
Prkaa2	A	C	4: 104,893,291 (GRCm39)	*553G	probably null	Het
Rasgrp4	A	G	7: 28,844,639 (GRCm39)	D297G	probably damaging	Het
Sdf4	G	A	4: 156,083,856 (GRCm39)	V109I	probably benign	Het
Serpinb3d	T	C	1: 107,007,027 (GRCm39)	K227R	probably benign	Het
Sgsm1	A	T	5: 113,398,822 (GRCm39)	I750N	probably damaging	Het
Shtn1	T	A	19: 59,020,673 (GRCm39)	K183M	probably damaging	Het
Skic3	A	G	13: 76,303,852 (GRCm39)	T1257A	probably benign	Het
Slc22a30	T	C	19: 8,381,945 (GRCm39)	T109A	probably benign	Het
Slco1c1	A	G	6: 141,487,929 (GRCm39)	D99G	probably damaging	Het
Tcf25	T	A	8: 124,122,354 (GRCm39)		probably null	Het
Tex10	A	G	4: 48,452,928 (GRCm39)	V677A	probably benign	Het
Tmem131l	A	G	3: 83,847,879 (GRCm39)	S329P	probably benign	Het
Trappc10	T	A	10: 78,058,573 (GRCm39)	N136I	probably damaging	Het
Trpt1	T	C	19: 6,975,906 (GRCm39)	F173L	probably benign	Het
Ube4b	G	A	4: 149,421,925 (GRCm39)	R955C	probably damaging	Het
Usp34	C	A	11: 23,371,340 (GRCm39)	P1840T	probably benign	Het
Vmn1r27	A	T	6: 58,192,985 (GRCm39)	N6K	possibly damaging	Het
Wdr25	T	C	12: 108,993,347 (GRCm39)	V521A	possibly damaging	Het
Wdr64	G	A	1: 175,639,623 (GRCm39)	E1031K	possibly damaging	Het
Wnt10a	A	G	1: 74,839,755 (GRCm39)	N147S	probably damaging	Het
Zbed5	T	C	5: 129,931,059 (GRCm39)	I336T	possibly damaging	Het
Zfp758	T	A	17: 22,594,796 (GRCm39)	H427Q	probably damaging	Het
Zfp961	C	A	8: 72,722,070 (GRCm39)	H194Q	probably damaging	Het

Other mutations in Ncs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02021:Ncs1	APN	2	31,174,177 (GRCm39)	missense	probably damaging	1.00
R1245:Ncs1	UTSW	2	31,174,705 (GRCm39)	missense	probably benign	0.23
R2853:Ncs1	UTSW	2	31,177,329 (GRCm39)	missense	probably damaging	0.98
R2983:Ncs1	UTSW	2	31,174,708 (GRCm39)	missense	probably damaging	1.00
R5474:Ncs1	UTSW	2	31,170,796 (GRCm39)	missense	probably damaging	1.00
R6662:Ncs1	UTSW	2	31,177,372 (GRCm39)	missense	probably damaging	1.00
R7913:Ncs1	UTSW	2	31,177,296 (GRCm39)	splice site	probably null
R8812:Ncs1	UTSW	2	31,174,213 (GRCm39)	missense	probably damaging	1.00
R8836:Ncs1	UTSW	2	31,136,159 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAAGCAAATTTCCTGAACTATCTC -3'
(R):5'- CATGTCTACATGCATGCAGGC -3'

Sequencing Primer
(F):5'- AGTCCTGGAGTGATTTGCCCC -3'
(R):5'- CAGTCCTGAGTGGGGAACTG -3'

Posted On

2016-12-15