Mutagenetix > Incidental Mutation

Incidental Mutation 'R8812:Ncdn'

672471

Institutional Source

Beutler Lab

Gene Symbol

Ncdn

Ensembl Gene

ENSMUSG00000028833

Gene Name

neurochondrin

Synonyms

neurochondrin-2, neurochondrin-1, norbin

MMRRC Submission

068647-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126637543-126647231 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126638905 bp (GRCm39)

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: 77,480,471 (GRCm39)	P1167Q	probably damaging	Het
Abtb3	A	G	10: 85,463,113 (GRCm39)	Q626R	probably damaging	Het
Adcy10	A	T	1: 165,378,867 (GRCm39)	Q885H	probably damaging	Het
Alkal2	C	T	12: 30,940,055 (GRCm39)	L139F	probably damaging	Het
Ankrd17	A	T	5: 90,441,062 (GRCm39)	M439K	probably benign	Het
Arl11	C	A	14: 61,548,422 (GRCm39)	Y77*	probably null	Het
Bcas3	T	C	11: 85,449,973 (GRCm39)	Y669H	probably benign	Het
Bpifb3	C	T	2: 153,764,516 (GRCm39)	A136V	probably benign	Het
Ccne2	A	G	4: 11,202,279 (GRCm39)	T345A	probably benign	Het
Ciz1	T	C	2: 32,254,286 (GRCm39)	S76P	probably benign	Het
Clip4	A	T	17: 72,107,800 (GRCm39)	K94*	probably null	Het
Cthrc1	G	A	15: 38,947,866 (GRCm39)	R195H	probably damaging	Het
Ddx31	T	C	2: 28,730,816 (GRCm39)		probably benign	Het
Elf2	T	A	3: 51,174,188 (GRCm39)	D113V	possibly damaging	Het
Esrrb	A	G	12: 86,535,324 (GRCm39)	N155S	probably benign	Het
Flnb	A	G	14: 7,887,624 (GRCm38)	D478G	probably benign	Het
Galm	T	A	17: 80,435,215 (GRCm39)	L24H	probably damaging	Het
Gask1b	T	C	3: 79,816,078 (GRCm39)	S363P	possibly damaging	Het
Gon4l	G	A	3: 88,802,314 (GRCm39)	G975D	possibly damaging	Het
Hspbp1	T	G	7: 4,667,783 (GRCm39)	M237L	probably benign	Het
Ighv1-62-1	A	T	12: 115,350,367 (GRCm39)	M100K	probably damaging	Het
Ipo8	A	T	6: 148,676,575 (GRCm39)	D971E	possibly damaging	Het
Itgax	C	T	7: 127,732,979 (GRCm39)	A286V	probably damaging	Het
Jpt2	T	C	17: 25,179,578 (GRCm39)	Q3R	probably benign	Het
Katnip	A	C	7: 125,396,867 (GRCm39)	R309S	probably benign	Het
Klrg2	A	C	6: 38,613,838 (GRCm39)	L55R	probably damaging	Het
Lrp6	T	A	6: 134,433,141 (GRCm39)	M1397L	probably benign	Het
Lrrc31	T	A	3: 30,733,328 (GRCm39)	Q462L	probably benign	Het
Lyg2	T	A	1: 37,949,054 (GRCm39)	I103F	probably damaging	Het
Map10	T	C	8: 126,396,664 (GRCm39)	V19A	probably damaging	Het
Map1b	T	A	13: 99,569,323 (GRCm39)	M1133L	unknown	Het
Mrgpra4	A	G	7: 47,631,481 (GRCm39)	V40A	probably benign	Het
Myh1	G	A	11: 67,099,967 (GRCm39)	G626R	probably benign	Het
Myo9a	T	C	9: 59,687,030 (GRCm39)	V45A	probably benign	Het
Ncs1	T	A	2: 31,174,213 (GRCm39)	M121K	probably damaging	Het
Nf1	T	C	11: 79,437,180 (GRCm39)	V16A	probably damaging	Het
Nktr	T	A	9: 121,579,317 (GRCm39)	D1128E	unknown	Het
Nup205	T	G	6: 35,191,269 (GRCm39)	L1000R	probably damaging	Het
Obscn	T	C	11: 58,925,921 (GRCm39)	E5604G	probably damaging	Het
Or1p4-ps1	T	A	11: 74,208,534 (GRCm39)	S228T	unknown	Het
Or2p2	T	C	13: 21,257,220 (GRCm39)	N84D	probably damaging	Het
Or4a68	A	G	2: 89,270,209 (GRCm39)	V138A	probably benign	Het
Or4c35	G	T	2: 89,808,715 (GRCm39)	A198S	possibly damaging	Het
Or51ah3	G	T	7: 103,209,816 (GRCm39)	C44F	probably benign	Het
Or5b96	A	T	19: 12,867,560 (GRCm39)	V127E	probably damaging	Het
Or7g12	A	G	9: 18,899,812 (GRCm39)	H176R	possibly damaging	Het
Ovch2	T	A	7: 107,392,462 (GRCm39)	I294F	probably damaging	Het
Ovch2	A	T	7: 107,393,251 (GRCm39)	C207*	probably null	Het
P3h2	T	A	16: 25,801,467 (GRCm39)	Y397F	possibly damaging	Het
Pappa	A	T	4: 65,123,166 (GRCm39)	I834F	possibly damaging	Het
Pcdha11	T	C	18: 37,140,716 (GRCm39)	S782P	probably benign	Het
Pex1	T	C	5: 3,681,614 (GRCm39)	V980A	probably benign	Het
Pik3c2a	G	T	7: 115,951,112 (GRCm39)	L1258I	probably damaging	Het
Pmp22	T	A	11: 63,049,239 (GRCm39)	*161R	probably null	Het
Ppp1r26	T	A	2: 28,341,192 (GRCm39)	M274K	probably benign	Het
Ppp6r2	T	C	15: 89,167,275 (GRCm39)	V830A	probably benign	Het
Pramel34	T	C	5: 93,785,660 (GRCm39)	T207A	possibly damaging	Het
Prss1	T	A	6: 41,439,520 (GRCm39)	N84K	probably benign	Het
Rab3il1	G	A	19: 10,004,141 (GRCm39)	A18T	probably damaging	Het
Sbf2	A	T	7: 109,929,069 (GRCm39)	S1471T	probably damaging	Het
Setdb1	T	A	3: 95,263,371 (GRCm39)	D45V	probably damaging	Het
Sik3	G	T	9: 46,089,811 (GRCm39)	V275L	probably benign	Het
Skint6	C	A	4: 112,846,149 (GRCm39)	M659I	probably benign	Het
Slc24a1	T	A	9: 64,835,985 (GRCm39)	D714V	unknown	Het
Slc26a5	T	A	5: 22,018,880 (GRCm39)	D653V	probably damaging	Het
Snrnp27	A	T	6: 86,653,196 (GRCm39)	C141S	probably benign	Het
Stradb	A	G	1: 59,033,478 (GRCm39)	I380M	probably benign	Het
Sult1e1	T	C	5: 87,735,501 (GRCm39)	Y59C	probably benign	Het
Tas2r122	C	T	6: 132,688,702 (GRCm39)	A64T	probably benign	Het
Tep1	C	T	14: 51,074,589 (GRCm39)	C1812Y	probably damaging	Het
Tln2	C	A	9: 67,128,693 (GRCm39)	E1465D	possibly damaging	Het
Trio	A	T	15: 27,905,311 (GRCm39)	C152S	unknown	Het
Tro	G	A	X: 149,438,555 (GRCm39)	S34L	unknown	Het
Vmn1r15	A	G	6: 57,235,123 (GRCm39)		probably benign	Het
Vmn1r19	A	G	6: 57,381,436 (GRCm39)		probably benign	Het
Vmn1r75	A	G	7: 11,614,630 (GRCm39)	T121A	possibly damaging	Het
Vmn2r32	A	G	7: 7,477,669 (GRCm39)	F241L	probably damaging	Het
Vmn2r66	A	G	7: 84,654,893 (GRCm39)	L472P	probably damaging	Het
Ylpm1	G	T	12: 85,043,566 (GRCm39)	W101C	unknown	Het
Zdbf2	C	A	1: 63,347,272 (GRCm39)	H1884N	probably benign	Het
Zfp1005	T	A	2: 150,109,624 (GRCm39)	C105S	possibly damaging	Het

Other mutations in Ncdn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Ncdn	APN	4	126,640,981 (GRCm39)	missense	probably benign	0.00
R0031:Ncdn	UTSW	4	126,643,901 (GRCm39)	splice site	probably null
R0135:Ncdn	UTSW	4	126,640,462 (GRCm39)	missense	probably benign	0.37
R0413:Ncdn	UTSW	4	126,644,327 (GRCm39)	missense	possibly damaging	0.52
R1404:Ncdn	UTSW	4	126,643,833 (GRCm39)	missense	probably benign	0.33
R1404:Ncdn	UTSW	4	126,643,833 (GRCm39)	missense	probably benign	0.33
R1486:Ncdn	UTSW	4	126,642,391 (GRCm39)	missense	probably damaging	1.00
R1533:Ncdn	UTSW	4	126,642,491 (GRCm39)	nonsense	probably null
R1785:Ncdn	UTSW	4	126,639,066 (GRCm39)	critical splice acceptor site	probably null
R1786:Ncdn	UTSW	4	126,639,066 (GRCm39)	critical splice acceptor site	probably null
R1789:Ncdn	UTSW	4	126,645,796 (GRCm39)	missense	probably damaging	1.00
R1791:Ncdn	UTSW	4	126,645,732 (GRCm39)	critical splice donor site	probably null
R3406:Ncdn	UTSW	4	126,642,388 (GRCm39)	missense	probably benign	0.09
R4547:Ncdn	UTSW	4	126,640,467 (GRCm39)	missense	probably damaging	1.00
R4863:Ncdn	UTSW	4	126,644,216 (GRCm39)	missense	probably damaging	1.00
R4916:Ncdn	UTSW	4	126,643,731 (GRCm39)	missense	possibly damaging	0.89
R4917:Ncdn	UTSW	4	126,643,731 (GRCm39)	missense	possibly damaging	0.89
R4918:Ncdn	UTSW	4	126,643,731 (GRCm39)	missense	possibly damaging	0.89
R5218:Ncdn	UTSW	4	126,644,603 (GRCm39)	missense	probably benign	0.13
R5356:Ncdn	UTSW	4	126,641,021 (GRCm39)	missense	probably damaging	1.00
R5617:Ncdn	UTSW	4	126,638,840 (GRCm39)	missense	probably damaging	0.99
R5718:Ncdn	UTSW	4	126,643,743 (GRCm39)	nonsense	probably null
R6057:Ncdn	UTSW	4	126,638,824 (GRCm39)	missense	probably benign	0.05
R6343:Ncdn	UTSW	4	126,640,964 (GRCm39)	missense	possibly damaging	0.74
R6986:Ncdn	UTSW	4	126,641,022 (GRCm39)	missense	probably damaging	1.00
R6988:Ncdn	UTSW	4	126,640,982 (GRCm39)	missense	probably benign	0.00
R8257:Ncdn	UTSW	4	126,643,676 (GRCm39)	critical splice donor site	probably null
R8279:Ncdn	UTSW	4	126,644,199 (GRCm39)	missense	probably benign	0.00
R8804:Ncdn	UTSW	4	126,643,898 (GRCm39)	missense	probably benign	0.09
R9047:Ncdn	UTSW	4	126,644,621 (GRCm39)	missense	possibly damaging	0.69
R9206:Ncdn	UTSW	4	126,644,041 (GRCm39)	missense	probably benign	0.03
R9208:Ncdn	UTSW	4	126,644,041 (GRCm39)	missense	probably benign	0.03
R9289:Ncdn	UTSW	4	126,643,903 (GRCm39)	missense	possibly damaging	0.81
R9353:Ncdn	UTSW	4	126,644,464 (GRCm39)	missense	probably benign	0.00
R9420:Ncdn	UTSW	4	126,645,762 (GRCm39)	missense	probably damaging	1.00
R9578:Ncdn	UTSW	4	126,645,795 (GRCm39)	missense	probably damaging	1.00
R9687:Ncdn	UTSW	4	126,642,467 (GRCm39)	missense	probably damaging	1.00
R9698:Ncdn	UTSW	4	126,643,688 (GRCm39)	missense	probably damaging	1.00
R9778:Ncdn	UTSW	4	126,642,467 (GRCm39)	missense	probably damaging	1.00
R9781:Ncdn	UTSW	4	126,642,467 (GRCm39)	missense	probably damaging	1.00
Z1176:Ncdn	UTSW	4	126,643,946 (GRCm39)	missense	probably benign	0.05
Z1176:Ncdn	UTSW	4	126,643,944 (GRCm39)	missense	probably damaging	1.00

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