Mutagenetix > Incidental Mutation

Incidental Mutation 'R1786:Ncdn'

202797

Institutional Source

Beutler Lab

Gene Symbol

Ncdn

Ensembl Gene

ENSMUSG00000028833

Gene Name

neurochondrin

Synonyms

norbin, neurochondrin-1, neurochondrin-2

MMRRC Submission

039817-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1786 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126743750-126753438 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 126745273 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101722 (fasta)

Gene Model

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

AlphaFold

Q9Z0E0

Predicted Effect

probably null
Transcript: ENSMUST00000030637

SMART Domains

Protein: ENSMUSP00000030637
Gene: ENSMUSG00000028833

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

Predicted Effect

probably null
Transcript: ENSMUST00000030637

SMART Domains

Protein: ENSMUSP00000030637
Gene: ENSMUSG00000028833

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

Predicted Effect

probably null
Transcript: ENSMUST00000030637

SMART Domains

Protein: ENSMUSP00000030637
Gene: ENSMUSG00000028833

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

Predicted Effect

probably null
Transcript: ENSMUST00000030637

SMART Domains

Protein: ENSMUSP00000030637
Gene: ENSMUSG00000028833

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

Predicted Effect

probably null
Transcript: ENSMUST00000106116

SMART Domains

Protein: ENSMUSP00000101722
Gene: ENSMUSG00000028833

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

Predicted Effect

probably null
Transcript: ENSMUST00000106116

SMART Domains

Protein: ENSMUSP00000101722
Gene: ENSMUSG00000028833

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

Predicted Effect

probably null
Transcript: ENSMUST00000106116

SMART Domains

Protein: ENSMUSP00000101722
Gene: ENSMUSG00000028833

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

Predicted Effect

probably null
Transcript: ENSMUST00000106116

SMART Domains

Protein: ENSMUSP00000101722
Gene: ENSMUSG00000028833

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

0.9589

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (98/101)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,210,149	C656S	probably benign	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
A2ml1	T	A	6: 128,576,260	N178I	probably damaging	Het
Abcc4	G	A	14: 118,553,349	R749C	probably damaging	Het
Acot11	T	C	4: 106,762,035	E201G	probably damaging	Het
Akap13	G	T	7: 75,611,434	A1269S	probably benign	Het
Aldh4a1	T	C	4: 139,644,128	V451A	probably benign	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Asb6	G	A	2: 30,827,076	R46W	probably damaging	Het
Bpifb6	T	C	2: 153,906,861	F259S	probably damaging	Het
Cad	T	A	5: 31,058,072	F76I	probably damaging	Het
Camk2b	T	C	11: 5,977,880	E390G	probably benign	Het
Cars	C	A	7: 143,592,474	R71M	probably damaging	Het
Ccdc170	T	G	10: 4,519,043	I197S	probably benign	Het
Cdc20b	A	T	13: 113,081,134	K362N	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Cpd	T	C	11: 76,792,798	D1045G	probably benign	Het
Crocc	T	C	4: 141,021,802	D1564G	probably damaging	Het
Csf1r	A	T	18: 61,129,077	M802L	probably damaging	Het
Dctn4	T	C	18: 60,546,335		probably null	Het
Dnah5	A	G	15: 28,313,786	Q1916R	probably damaging	Het
Dpysl2	A	G	14: 66,862,665		probably benign	Het
Dync2h1	A	G	9: 7,081,084	Y2871H	probably damaging	Het
Fam221b	T	A	4: 43,665,537	H307L	probably damaging	Het
Foxn4	C	T	5: 114,263,132	D37N	probably damaging	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Gm9797	T	C	10: 11,609,325		noncoding transcript	Het
Golim4	A	T	3: 75,908,149	V116D	probably damaging	Het
Gper1	C	T	5: 139,426,722	P274L	probably damaging	Het
Gpr132	A	G	12: 112,852,403	S268P	probably damaging	Het
Gtpbp2	T	C	17: 46,161,202	M21T	probably benign	Het
Hivep1	C	T	13: 42,183,786	A2447V	possibly damaging	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Insrr	G	A	3: 87,810,572		probably null	Het
Kcnh8	T	C	17: 52,893,933	V465A	probably damaging	Het
Kif5c	T	A	2: 49,758,805		probably benign	Het
Kmt2a	G	A	9: 44,819,675		probably benign	Het
Lhx6	G	T	2: 36,087,458	C327*	probably null	Het
Lifr	A	G	15: 7,181,856	D625G	possibly damaging	Het
Llgl1	T	C	11: 60,707,240	V370A	probably benign	Het
Lman1	A	T	18: 65,991,582	M362K	probably damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Lpin3	T	A	2: 160,896,809	L227*	probably null	Het
Ltv1	C	G	10: 13,182,536		probably benign	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Mettl17	A	T	14: 51,888,735		probably benign	Het
Mnx1	T	A	5: 29,474,189	S299C	unknown	Het
Mov10	A	T	3: 104,818,116	I59N	possibly damaging	Het
Myo7b	T	C	18: 31,994,897	I581V	probably benign	Het
Ndufa4	A	T	6: 11,900,575	V37E	probably benign	Het
Nhsl1	T	G	10: 18,524,664	L546R	probably benign	Het
Nop9	T	C	14: 55,751,142	L347P	probably damaging	Het
Nrp1	A	T	8: 128,498,516	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,477,935		probably benign	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr372	A	G	8: 72,058,436	Y252C	probably damaging	Het
Olfr968	A	T	9: 39,772,495	C102S	probably benign	Het
Osbpl6	T	A	2: 76,586,214	I546K	probably damaging	Het
Pard6g	T	C	18: 80,117,308	V212A	probably damaging	Het
Pknox2	A	G	9: 36,909,684	V294A	probably damaging	Het
Plekha1	T	C	7: 130,892,253	V106A	probably benign	Het
Plekha6	C	A	1: 133,279,365		probably null	Het
Ptgdr	A	T	14: 44,858,579	Y225*	probably null	Het
Ptpn22	A	G	3: 103,874,052	I90V	probably damaging	Het
Pygb	C	T	2: 150,816,772	T372I	probably damaging	Het
Pzp	T	C	6: 128,491,161		probably null	Het
Qrich2	C	T	11: 116,441,449	G2307D	probably damaging	Het
Rfwd3	A	T	8: 111,297,402	V96E	probably benign	Het
Senp1	T	A	15: 98,075,967	T132S	probably benign	Het
Slc9a4	T	G	1: 40,607,741		probably null	Het
Slfn9	T	A	11: 82,981,307	I868F	probably damaging	Het
St3gal6	T	C	16: 58,475,871	D137G	probably damaging	Het
Synj1	G	T	16: 90,964,517	A687D	probably damaging	Het
Syt4	A	G	18: 31,443,443		probably benign	Het
Tacc1	A	T	8: 25,164,493	N271K	probably damaging	Het
Tdrd6	T	C	17: 43,624,833	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tmem200a	T	A	10: 25,993,927	H148L	probably damaging	Het
Trappc8	A	G	18: 20,834,940		probably null	Het
Txk	T	A	5: 72,696,579	T472S	probably damaging	Het
Ubr4	T	A	4: 139,423,945	M1897K	probably damaging	Het
Uggt2	A	G	14: 119,061,376	L391P	probably damaging	Het
Uncx	T	C	5: 139,547,547	S456P	probably benign	Het
Vps13b	A	G	15: 35,879,791	Y3004C	probably damaging	Het
Wisp1	G	A	15: 66,906,489	C53Y	probably damaging	Het
Zbtb46	C	T	2: 181,391,431	C479Y	probably damaging	Het
Zc3h7a	A	T	16: 11,150,605	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,824,644	L548Q	possibly damaging	Het
Zfp236	T	C	18: 82,621,304	M1225V	probably benign	Het
Zfp280d	T	C	9: 72,308,005	F133L	probably damaging	Het
Zfp503	A	T	14: 21,985,520	C443S	possibly damaging	Het
Zfyve26	T	A	12: 79,268,434	I1423F	possibly damaging	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
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
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
R9687:Ncdn	UTSW	4	126748674	missense	probably damaging	1.00
R9698:Ncdn	UTSW	4	126749895	missense	probably damaging	1.00
R9778:Ncdn	UTSW	4	126748674	missense	probably damaging	1.00
R9781:Ncdn	UTSW	4	126748674	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'- AGTTGTAGCAGCTCCTGTGG -3'
(R):5'- ACCCATTTAGAGGTCTTGATGAGTG -3'

Sequencing Primer
(F):5'- ACAACCCGTGAAGGCCTG -3'
(R):5'- GCTATTGGCTCCATCTCAGTAAAG -3'

Posted On

2014-06-23