Mutagenetix > Incidental Mutations

Incidental Mutation 'R5165:Nov'

395669

Institutional Source

Beutler Lab

Gene Symbol

Nov

Ensembl Gene

ENSMUSG00000037362

Gene Name

nephroblastoma overexpressed gene

Synonyms

CCN3, C130088N23Rik

MMRRC Submission

042746-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R5165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54745702-54754039 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54749189 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 198 (D198G)

Ref Sequence

ENSEMBL: ENSMUSP00000054389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050027]

Predicted Effect

probably damaging
Transcript: ENSMUST00000050027
AA Change: D198G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054389
Gene: ENSMUSG00000037362
AA Change: D198G

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IB	27	98	8.2e-34	SMART
VWC	104	167	6.08e-18	SMART
low complexity region	172	181	N/A	INTRINSIC
TSP1	204	247	5.51e-7	SMART
CT	266	335	1.18e-21	SMART

Meta Mutation Damage Score

0.0649

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a small secreted cysteine-rich protein and a member of the CCN family of regulatory proteins. CNN family proteins associate with the extracellular matrix and play an important role in cardiovascular and skeletal development, fibrosis and cancer development. [provided by RefSeq, Feb 2009]
PHENOTYPE: Heterozygotes and homozygotes for a null mutation exhibit abnormal skeletal and cardiac development, muscle atrophy and cataracts. Mice homozygous for another knock-out allele exhibit minor bone structure and physiology defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	T	A	6: 83,526,832	I77F	probably benign	Het
Actl6a	G	A	3: 32,720,208	V285I	probably benign	Het
Adam9	A	T	8: 24,967,174	I646N	possibly damaging	Het
Ahnak	T	C	19: 9,015,665	I4771T	possibly damaging	Het
Alas1	T	C	9: 106,241,255	T223A	probably damaging	Het
Apc2	A	G	10: 80,315,850	E2246G	probably damaging	Het
Atp1a1	A	G	3: 101,581,789	I795T	probably benign	Het
Cdhr4	T	C	9: 107,997,630	L633P	probably damaging	Het
Cep350	A	G	1: 155,928,368	S990P	probably damaging	Het
Cplx2	A	G	13: 54,378,976	I66V	possibly damaging	Het
Cx3cl1	T	C	8: 94,779,876	S170P	probably benign	Het
Cyth1	T	C	11: 118,169,082	N353S	possibly damaging	Het
Dapp1	T	C	3: 137,939,215		probably null	Het
Dmwd	G	A	7: 19,078,035		probably benign	Het
Dsg1c	A	G	18: 20,277,023	H516R	probably damaging	Het
Efemp2	T	C	19: 5,475,411	C39R	probably damaging	Het
Fnbp4	C	G	2: 90,777,657	Q908E	possibly damaging	Het
Foxred2	A	G	15: 77,956,012	V26A	probably damaging	Het
Gkap1	A	G	13: 58,263,196		probably null	Het
Gstcd	A	C	3: 133,084,679	V109G	probably damaging	Het
Hoxc9	T	A	15: 102,984,000	M215K	probably damaging	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Kcnj9	A	T	1: 172,323,157	D296E	probably benign	Het
Kctd18	T	C	1: 57,959,236	Y68C	probably damaging	Het
Kif21a	A	T	15: 90,956,376	M1179K	probably benign	Het
Lrfn5	T	C	12: 61,839,624	I66T	possibly damaging	Het
Lrp12	A	G	15: 39,872,461	S692P	probably benign	Het
Lrrc10	A	T	10: 117,046,060	N213I	probably benign	Het
Mettl11b	A	G	1: 163,722,523	I53T	probably benign	Het
Nceh1	G	A	3: 27,241,528	V313I	probably benign	Het
Nkx6-3	T	A	8: 23,153,743	H53Q	probably damaging	Het
Olfr1276	T	A	2: 111,257,223	V36E	possibly damaging	Het
Olfr128	A	G	17: 37,924,361	D265G	probably benign	Het
Olfr1388	A	G	11: 49,444,376	H175R	probably damaging	Het
Olfr1447	A	T	19: 12,901,200	N193K	probably benign	Het
Oxct1	A	T	15: 4,053,769	T157S	possibly damaging	Het
Pcdhga3	A	G	18: 37,675,670	E392G	possibly damaging	Het
Polr1a	T	G	6: 71,967,925	Y1322D	probably damaging	Het
Prkdc	T	A	16: 15,678,272	S776T	probably damaging	Het
Ralgapb	A	G	2: 158,465,912	I1047V	possibly damaging	Het
Sertad4	A	T	1: 192,846,822	S229T	possibly damaging	Het
Shank2	T	A	7: 144,409,636	V327D	possibly damaging	Het
Skint6	A	T	4: 112,865,668	V904E	possibly damaging	Het
Slfn8	A	T	11: 83,017,127	Y197N	probably damaging	Het
Smo	T	A	6: 29,736,078	L23Q	unknown	Het
Snx29	T	A	16: 11,420,775	M23K	probably damaging	Het
Synrg	T	C	11: 83,990,935	S366P	probably benign	Het
Tomm40	A	G	7: 19,713,667		probably null	Het
Tpcn1	T	C	5: 120,557,945	E81G	probably damaging	Het
Trappc1	A	G	11: 69,324,234	Q26R	probably benign	Het
Ttn	T	A	2: 76,776,556		probably null	Het
Usp25	T	A	16: 77,076,405	D450E	possibly damaging	Het
Zmynd19	T	A	2: 24,958,189	Y132*	probably null	Het

Other mutations in Nov

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01315:Nov	APN	15	54749260	missense	probably damaging	1.00
IGL01480:Nov	APN	15	54752291	missense	probably damaging	1.00
IGL01727:Nov	APN	15	54746238	missense	probably benign	0.17
IGL02027:Nov	APN	15	54747934	missense	probably damaging	0.98
IGL02690:Nov	APN	15	54747802	missense	probably damaging	1.00
IGL03089:Nov	APN	15	54749284	missense	possibly damaging	0.72
IGL03229:Nov	APN	15	54749308	missense	probably benign	0.19
R0556:Nov	UTSW	15	54749167	missense	probably damaging	1.00
R1162:Nov	UTSW	15	54747782	nonsense	probably null
R1321:Nov	UTSW	15	54749246	missense	probably damaging	1.00
R1572:Nov	UTSW	15	54749252	missense	possibly damaging	0.89
R1994:Nov	UTSW	15	54749354	missense	probably benign
R2151:Nov	UTSW	15	54752458	missense	probably benign	0.10
R4785:Nov	UTSW	15	54752207	critical splice acceptor site	probably null
R5577:Nov	UTSW	15	54752501	missense	possibly damaging	0.54
R6131:Nov	UTSW	15	54749360	missense	probably benign	0.28
R6307:Nov	UTSW	15	54748025	critical splice donor site	probably null
R6472:Nov	UTSW	15	54749272	missense	possibly damaging	0.95
R6557:Nov	UTSW	15	54747927	nonsense	probably null
R7000:Nov	UTSW	15	54752347	missense	probably damaging	1.00
R7029:Nov	UTSW	15	54747775	missense	possibly damaging	0.89
R7957:Nov	UTSW	15	54746338	missense	possibly damaging	0.93
X0063:Nov	UTSW	15	54746321	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AACCTAGTGCTGTGTTCTGC -3'
(R):5'- TTTCTAGAGGCCAGGCTCCAAG -3'

Sequencing Primer
(F):5'- ACCTAGTGCTGTGTTCTGCAAAAC -3'
(R):5'- CTGGTATAAAGGGATAGGTTCCTACC -3'

Posted On

2016-06-21