Mutagenetix > Incidental Mutation

Incidental Mutation 'R8812:Ncdn'

672471

Institutional Source

Beutler Lab

Gene Symbol

Ncdn

Ensembl Gene

ENSMUSG00000028833

Gene Name

neurochondrin

Synonyms

norbin, neurochondrin-1, neurochondrin-2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126743750-126753438 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126745112 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 638 (F638S)

Ref Sequence

ENSEMBL: ENSMUSP00000030637 (fasta)

Gene Model

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

AlphaFold

Q9Z0E0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030637
AA Change: F638S

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030637
Gene: ENSMUSG00000028833
AA Change: F638S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106116
AA Change: F638S

PolyPhen 2 Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101722
Gene: ENSMUSG00000028833
AA Change: F638S

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: 100.0%
10x: 99.8%
20x: 99.2%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,332,352	P1167Q	probably damaging	Het
Adcy10	A	T	1: 165,551,298	Q885H	probably damaging	Het
Alkal2	C	T	12: 30,890,056	L139F	probably damaging	Het
Ankrd17	A	T	5: 90,293,203	M439K	probably benign	Het
Arl11	C	A	14: 61,310,973	Y77*	probably null	Het
Bcas3	T	C	11: 85,559,147	Y669H	probably benign	Het
Bpifb3	C	T	2: 153,922,596	A136V	probably benign	Het
Btbd11	A	G	10: 85,627,249	Q626R	probably damaging	Het
C87414	T	C	5: 93,637,801	T207A	possibly damaging	Het
Ccne2	A	G	4: 11,202,279	T345A	probably benign	Het
Ciz1	T	C	2: 32,364,274	S76P	probably benign	Het
Clip4	A	T	17: 71,800,805	K94*	probably null	Het
Cthrc1	G	A	15: 39,084,471	R195H	probably damaging	Het
D430042O09Rik	A	C	7: 125,797,695	R309S	probably benign	Het
Ddx31	T	C	2: 28,840,804		probably benign	Het
Elf2	T	A	3: 51,266,767	D113V	possibly damaging	Het
Esrrb	A	G	12: 86,488,550	N155S	probably benign	Het
Fam198b	T	C	3: 79,908,771	S363P	possibly damaging	Het
Flnb	A	G	14: 7,887,624	D478G	probably benign	Het
Galm	T	A	17: 80,127,786	L24H	probably damaging	Het
Gm14124	T	A	2: 150,267,704	C105S	possibly damaging	Het
Gon4l	G	A	3: 88,895,007	G975D	possibly damaging	Het
Hspbp1	T	G	7: 4,664,784	M237L	probably benign	Het
Ighv1-62-1	A	T	12: 115,386,747	M100K	probably damaging	Het
Ipo8	A	T	6: 148,775,077	D971E	possibly damaging	Het
Itgax	C	T	7: 128,133,807	A286V	probably damaging	Het
Jpt2	T	C	17: 24,960,604	Q3R	probably benign	Het
Klrg2	A	C	6: 38,636,903	L55R	probably damaging	Het
Lrp6	T	A	6: 134,456,178	M1397L	probably benign	Het
Lrrc31	T	A	3: 30,679,179	Q462L	probably benign	Het
Lyg2	T	A	1: 37,909,973	I103F	probably damaging	Het
Map10	T	C	8: 125,669,925	V19A	probably damaging	Het
Map1b	T	A	13: 99,432,815	M1133L	unknown	Het
Mrgpra4	A	G	7: 47,981,733	V40A	probably benign	Het
Myh1	G	A	11: 67,209,141	G626R	probably benign	Het
Myo9a	T	C	9: 59,779,747	V45A	probably benign	Het
Ncs1	T	A	2: 31,284,201	M121K	probably damaging	Het
Nf1	T	C	11: 79,546,354	V16A	probably damaging	Het
Nktr	T	A	9: 121,750,251	D1128E	unknown	Het
Nup205	T	G	6: 35,214,334	L1000R	probably damaging	Het
Obscn	T	C	11: 59,035,095	E5604G	probably damaging	Het
Olfr1240	A	G	2: 89,439,865	V138A	probably benign	Het
Olfr1260	G	T	2: 89,978,371	A198S	possibly damaging	Het
Olfr1370	T	C	13: 21,073,050	N84D	probably damaging	Het
Olfr1446	A	T	19: 12,890,196	V127E	probably damaging	Het
Olfr409-ps1	T	A	11: 74,317,708	S228T	unknown	Het
Olfr615	G	T	7: 103,560,609	C44F	probably benign	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Ovch2	T	A	7: 107,793,255	I294F	probably damaging	Het
Ovch2	A	T	7: 107,794,044	C207*	probably null	Het
P3h2	T	A	16: 25,982,717	Y397F	possibly damaging	Het
Pappa	A	T	4: 65,204,929	I834F	possibly damaging	Het
Pcdha11	T	C	18: 37,007,663	S782P	probably benign	Het
Pex1	T	C	5: 3,631,614	V980A	probably benign	Het
Pik3c2a	G	T	7: 116,351,877	L1258I	probably damaging	Het
Pmp22	T	A	11: 63,158,413	*161R	probably null	Het
Ppp1r26	T	A	2: 28,451,180	M274K	probably benign	Het
Ppp6r2	T	C	15: 89,283,072	V830A	probably benign	Het
Prss1	T	A	6: 41,462,586	N84K	probably benign	Het
Rab3il1	G	A	19: 10,026,777	A18T	probably damaging	Het
Sbf2	A	T	7: 110,329,862	S1471T	probably damaging	Het
Setdb1	T	A	3: 95,356,060	D45V	probably damaging	Het
Sik3	G	T	9: 46,178,513	V275L	probably benign	Het
Skint6	C	A	4: 112,988,952	M659I	probably benign	Het
Slc24a1	T	A	9: 64,928,703	D714V	unknown	Het
Slc26a5	T	A	5: 21,813,882	D653V	probably damaging	Het
Snrnp27	A	T	6: 86,676,214	C141S	probably benign	Het
Stradb	A	G	1: 58,994,319	I380M	probably benign	Het
Sult1e1	T	C	5: 87,587,642	Y59C	probably benign	Het
Tas2r122	C	T	6: 132,711,739	A64T	probably benign	Het
Tep1	C	T	14: 50,837,132	C1812Y	probably damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trio	A	T	15: 27,905,225	C152S	unknown	Het
Tro	G	A	X: 150,655,559	S34L	unknown	Het
Vmn1r15	A	G	6: 57,258,138		probably benign	Het
Vmn1r19	A	G	6: 57,404,451		probably benign	Het
Vmn1r75	A	G	7: 11,880,703	T121A	possibly damaging	Het
Vmn2r32	A	G	7: 7,474,670	F241L	probably damaging	Het
Vmn2r66	A	G	7: 85,005,685	L472P	probably damaging	Het
Ylpm1	G	T	12: 84,996,792	W101C	unknown	Het
Zdbf2	C	A	1: 63,308,113	H1884N	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
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
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'- AATGGCTGGCCGTTTCTTC -3'
(R):5'- CCTTTCAGCTCTCCAAGGAAC -3'

Sequencing Primer
(F):5'- GGTTAGCCCGTGCCAATTC -3'
(R):5'- GCTCTCCAAGGAACCCCAG -3'

Posted On

2021-04-30