Mutagenetix > Incidental Mutation

Incidental Mutation 'R4547:Ncdn'

333812

Institutional Source

Beutler Lab

Gene Symbol

Ncdn

Ensembl Gene

ENSMUSG00000028833

Gene Name

neurochondrin

Synonyms

norbin, neurochondrin-1, neurochondrin-2

MMRRC Submission

041781-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4547 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126743750-126753438 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126746674 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 542 (F542S)

Ref Sequence

ENSEMBL: ENSMUSP00000101722 (fasta)

Gene Model

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

AlphaFold

Q9Z0E0

Predicted Effect

probably damaging
Transcript: ENSMUST00000030637
AA Change: F542S

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

SMART Domains

Protein: ENSMUSP00000030637
Gene: ENSMUSG00000028833
AA Change: F542S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106116
AA Change: F542S

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

SMART Domains

Protein: ENSMUSP00000101722
Gene: ENSMUSG00000028833
AA Change: F542S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127079

Meta Mutation Damage Score

0.9339

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

96% (55/57)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	G	T	14: 54,645,667	A909E	probably benign	Het
Ankrd13a	A	G	5: 114,775,296	E23G	probably benign	Het
Ano4	T	C	10: 88,981,170	R148G	probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Aspm	T	C	1: 139,478,187	V1604A	possibly damaging	Het
Cdh1	C	A	8: 106,663,903	T625K	probably damaging	Het
Cfap65	G	A	1: 74,907,612	T1313I	probably damaging	Het
Cfhr3	T	G	1: 139,584,913		noncoding transcript	Het
Csmd1	T	C	8: 16,391,797	D351G	possibly damaging	Het
Dis3l2	A	T	1: 87,049,671	T861S	probably benign	Het
Dnah6	A	T	6: 73,192,405	D404E	probably benign	Het
Dpm1	A	G	2: 168,223,153	L88P	probably damaging	Het
Fabp3	C	T	4: 130,312,452		probably null	Het
Fat4	T	C	3: 38,951,283	F1944L	probably damaging	Het
Frmd4a	C	A	2: 4,473,145	L46I	probably damaging	Het
Gpr39	G	A	1: 125,677,991	V219I	probably benign	Het
Hace1	T	A	10: 45,672,555		probably null	Het
Kdm1b	C	T	13: 47,063,077	R308W	probably damaging	Het
Klb	T	A	5: 65,379,928	V867E	probably benign	Het
Lnpk	C	G	2: 74,522,286	E351Q	probably benign	Het
Mettl25	T	C	10: 105,826,017	D364G	probably damaging	Het
Mrc2	G	A	11: 105,336,641	V567I	probably benign	Het
Mrm2	T	C	5: 140,328,496	T195A	probably benign	Het
Naaa	C	T	5: 92,263,586		probably null	Het
Nlrp4e	A	G	7: 23,336,866	N715D	probably benign	Het
Nupl2	T	C	5: 24,177,970		probably benign	Het
Olfr1122	G	A	2: 87,388,160	V152I	probably benign	Het
Olfr720	A	T	14: 14,175,854	I76N	probably damaging	Het
Psg25	A	G	7: 18,524,704	L349P	probably damaging	Het
Rnf213	G	T	11: 119,479,670		probably null	Het
Scara5	A	C	14: 65,670,574	K4N	possibly damaging	Het
Slc35f5	T	C	1: 125,572,382	L211S	probably benign	Het
Slc44a4	T	A	17: 34,927,755	F285I	probably damaging	Het
Slc8a3	A	G	12: 81,314,851	V398A	possibly damaging	Het
Smc2	T	C	4: 52,467,866	S737P	probably benign	Het
Speer2	T	C	16: 69,858,849	K30E	probably damaging	Het
Synj1	T	C	16: 90,988,282	I229V	possibly damaging	Het
Tac1	A	G	6: 7,557,216	D74G	probably damaging	Het
Tbc1d17	A	G	7: 44,841,347	V607A	probably benign	Het
Tmem132a	A	G	19: 10,860,200	V582A	possibly damaging	Het
Traf4	A	G	11: 78,161,037	I207T	possibly damaging	Het
Trio	T	C	15: 27,818,982	R449G	possibly damaging	Het
Ubn1	G	A	16: 5,072,092	R407H	probably damaging	Het
Vmn1r19	C	T	6: 57,404,789	T109I	possibly damaging	Het
Vmn2r60	A	G	7: 42,135,663	T100A	probably null	Het
Vsig8	A	T	1: 172,560,596	M44L	probably benign	Het
Zbed5	T	A	5: 129,902,851	L547*	probably null	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
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
R6988:Ncdn	UTSW	4	126747189	missense	probably benign	0.00
R8257:Ncdn	UTSW	4	126749883	critical splice donor site	probably null
R8279:Ncdn	UTSW	4	126750406	missense	probably benign	0.00
R8804:Ncdn	UTSW	4	126750105	missense	probably benign	0.09
R8812:Ncdn	UTSW	4	126745112	missense	possibly damaging	0.52
R9047:Ncdn	UTSW	4	126750828	missense	possibly damaging	0.69
R9206:Ncdn	UTSW	4	126750248	missense	probably benign	0.03
R9208:Ncdn	UTSW	4	126750248	missense	probably benign	0.03
R9289:Ncdn	UTSW	4	126750110	missense	possibly damaging	0.81
R9353:Ncdn	UTSW	4	126750671	missense	probably benign	0.00
R9420:Ncdn	UTSW	4	126751969	missense	probably damaging	1.00
R9578:Ncdn	UTSW	4	126752002	missense	probably damaging	1.00
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'- GCTTACACTCCGAACACTGC -3'
(R):5'- GTCACTCAGCTCAGCTACTTGG -3'

Sequencing Primer
(F):5'- GCAAGTCCACTCAGATACTCTGTC -3'
(R):5'- AGCTACTTGGCATCTGACTGAC -3'

Posted On

2015-08-18