Mutagenetix > Incidental Mutations

Incidental Mutation 'R6988:Ncdn'

543069

Institutional Source

Beutler Lab

Gene Symbol

Ncdn

Ensembl Gene

ENSMUSG00000028833

Gene Name

neurochondrin

Synonyms

norbin, neurochondrin-1, neurochondrin-2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6988 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126743750-126753438 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126747189 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 506 (D506G)

Ref Sequence

ENSEMBL: ENSMUSP00000101722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030637] [ENSMUST00000106116]

Predicted Effect

probably benign
Transcript: ENSMUST00000030637
AA Change: D506G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000030637
Gene: ENSMUSG00000028833
AA Change: D506G

Domain	Start	End	E-Value	Type
Pfam:Neurochondrin	30	637	3e-209	PFAM
low complexity region	649	659	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106116
AA Change: D506G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101722
Gene: ENSMUSG00000028833
AA Change: D506G

Domain	Start	End	E-Value	Type
Pfam:Neurochondrin	30	637	9.1e-217	PFAM
low complexity region	649	659	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted inactivation of this gene results in early embryonic lethality in the homozygous state and impaired chondrocyte proliferation and differentiation in the heterozygous state. Gene trap mutation resulted in lacrimal gland hypertrophy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	T	G	4: 137,454,579	L15W	probably damaging	Het
4930550C14Rik	G	A	9: 53,411,756	V31I	possibly damaging	Het
4932415D10Rik	T	C	10: 82,291,899	D1759G	possibly damaging	Het
Adgre1	C	T	17: 57,408,445	S255F	probably benign	Het
Aff4	T	G	11: 53,398,237	S404R	probably damaging	Het
Akr1c19	A	T	13: 4,233,758		probably benign	Het
Ankrd31	T	A	13: 96,878,249	I1342K	probably damaging	Het
Arhgap5	T	A	12: 52,518,125	D626E	possibly damaging	Het
Arhgef1	G	A	7: 24,916,923	V332I	probably benign	Het
AY358078	A	G	14: 51,826,187	E430G	probably damaging	Het
B4gat1	T	A	19: 5,040,434	I395N	probably benign	Het
Bub1b	T	A	2: 118,636,830	I878N	probably damaging	Het
Ccdc150	C	T	1: 54,355,709	Q745*	probably null	Het
Ccl19	A	T	4: 42,754,885	I87N	probably damaging	Het
Ces2g	G	C	8: 104,963,908	G107A	probably benign	Het
Chpt1	A	G	10: 88,488,406	V180A	probably damaging	Het
Col2a1	T	C	15: 98,004,454	T14A	unknown	Het
Dnah7a	T	C	1: 53,582,625	I1114V	possibly damaging	Het
Dnah7c	T	C	1: 46,666,213	I2462T	possibly damaging	Het
Dnah8	T	C	17: 30,643,275	F208S	probably damaging	Het
Dnhd1	A	G	7: 105,714,210	E3993G	probably damaging	Het
Erv3	C	T	2: 131,855,966	D158N	possibly damaging	Het
Exoc6	T	A	19: 37,609,091	F647I	probably damaging	Het
Fbrs	G	A	7: 127,479,508		probably benign	Het
Fgfr1op2	T	C	6: 146,589,965	F109L	probably damaging	Het
Fv1	T	C	4: 147,869,271	F98S	possibly damaging	Het
Gm436	A	G	4: 144,686,325	F15S	probably benign	Het
H2-M10.1	T	C	17: 36,325,592	K107E	probably benign	Het
Hspg2	A	T	4: 137,528,890	Q1436L	probably damaging	Het
Ighv1-74	T	C	12: 115,802,763	Y79C	probably damaging	Het
Kcnj1	G	A	9: 32,396,585	V102I	probably benign	Het
Mnt	C	A	11: 74,842,809		probably benign	Het
Mrpl15	T	C	1: 4,782,660	T112A	probably benign	Het
Ogdh	C	T	11: 6,313,806	R81*	probably null	Het
Olfr791	T	A	10: 129,526,673	S149T	probably benign	Het
Olfr815	G	C	10: 129,902,409	F100L	probably damaging	Het
Pole	G	T	5: 110,329,583	V1863F	probably damaging	Het
Pramel5	T	C	4: 144,274,007		probably benign	Het
Rabep1	A	G	11: 70,934,537	K636E	probably damaging	Het
Rasgrf2	T	A	13: 91,885,635	Y1151F	probably benign	Het
Rrad	A	G	8: 104,630,636	V93A	probably damaging	Het
Sesn3	A	T	9: 14,310,257	R118*	probably null	Het
Slc27a3	T	C	3: 90,386,290	N596S	probably benign	Het
Snx19	C	A	9: 30,428,935	D456E	probably damaging	Het
Supt20	T	C	3: 54,698,597	S35P	probably damaging	Het
Syde2	G	T	3: 146,019,809	R885L	probably benign	Het
Synm	G	A	7: 67,733,658	L1419F	probably damaging	Het
Tcrg-V6	G	T	13: 19,190,644	G40W	possibly damaging	Het
Tekt2	A	G	4: 126,323,443	F221L	probably benign	Het
Ticam1	C	T	17: 56,269,900	E732K	probably benign	Het
Tmem39b	A	G	4: 129,693,148	I90T	possibly damaging	Het
Trib2	A	G	12: 15,815,338	S79P	probably damaging	Het
Usp32	T	C	11: 85,010,143	M1084V	probably benign	Het
Vmn1r181	T	C	7: 23,984,847	F246L	probably damaging	Het
Wnt16	A	G	6: 22,288,511	D2G	probably damaging	Het
Zfp462	A	G	4: 55,080,716	E1357G	probably benign	Het
Zhx3	A	G	2: 160,779,868	M793T	probably benign	Het

Other mutations in Ncdn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Ncdn	APN	4	126747188	missense	probably benign	0.00
R0031:Ncdn	UTSW	4	126750108	splice site	probably null
R0135:Ncdn	UTSW	4	126746669	missense	probably benign	0.37
R0413:Ncdn	UTSW	4	126750534	missense	possibly damaging	0.52
R1404:Ncdn	UTSW	4	126750040	missense	probably benign	0.33
R1404:Ncdn	UTSW	4	126750040	missense	probably benign	0.33
R1486:Ncdn	UTSW	4	126748598	missense	probably damaging	1.00
R1533:Ncdn	UTSW	4	126748698	nonsense	probably null
R1785:Ncdn	UTSW	4	126745273	critical splice acceptor site	probably null
R1786:Ncdn	UTSW	4	126745273	critical splice acceptor site	probably null
R1789:Ncdn	UTSW	4	126752003	missense	probably damaging	1.00
R1791:Ncdn	UTSW	4	126751939	critical splice donor site	probably null
R3406:Ncdn	UTSW	4	126748595	missense	probably benign	0.09
R4547:Ncdn	UTSW	4	126746674	missense	probably damaging	1.00
R4863:Ncdn	UTSW	4	126750423	missense	probably damaging	1.00
R4916:Ncdn	UTSW	4	126749938	missense	possibly damaging	0.89
R4917:Ncdn	UTSW	4	126749938	missense	possibly damaging	0.89
R4918:Ncdn	UTSW	4	126749938	missense	possibly damaging	0.89
R5218:Ncdn	UTSW	4	126750810	missense	probably benign	0.13
R5356:Ncdn	UTSW	4	126747228	missense	probably damaging	1.00
R5617:Ncdn	UTSW	4	126745047	missense	probably damaging	0.99
R5718:Ncdn	UTSW	4	126749950	nonsense	probably null
R6057:Ncdn	UTSW	4	126745031	missense	probably benign	0.05
R6343:Ncdn	UTSW	4	126747171	missense	possibly damaging	0.74
R6986:Ncdn	UTSW	4	126747229	missense	probably damaging	1.00
R8257:Ncdn	UTSW	4	126749883	critical splice donor site	probably null
R8279:Ncdn	UTSW	4	126750406	missense	probably benign	0.00
Z1176:Ncdn	UTSW	4	126750151	missense	probably damaging	1.00
Z1176:Ncdn	UTSW	4	126750153	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TTATGCTAACATTCAGCCTACGGC -3'
(R):5'- TTTCAGTCAGGGTGCTCTGC -3'

Sequencing Primer
(F):5'- CTACGGCTACAGGGAAACTAAGTC -3'
(R):5'- GGGTGCTCTGCCCTTATC -3'

Posted On

2018-11-28