Mutagenetix > Incidental Mutation

Incidental Mutation 'R2176:Nvl'

236853

Institutional Source

Beutler Lab

Gene Symbol

Nvl

Ensembl Gene

ENSMUSG00000026516

Gene Name

nuclear VCP-like

Synonyms

1200009I24Rik

MMRRC Submission

040178-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R2176 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180914703-180971769 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 180962639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027797]

AlphaFold

Q9DBY8

PDB Structure

Structure and function of the N-terminal nucleolin binding domain of nuclear valocine containing protein like 2 (NVL2) harboring a nucleolar localization signal [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000027797

SMART Domains

Protein: ENSMUSP00000027797
Gene: ENSMUSG00000026516

Domain	Start	End	E-Value	Type
Pfam:Nucleolin_bd	2	72	1.9e-31	PFAM
low complexity region	90	104	N/A	INTRINSIC
low complexity region	187	201	N/A	INTRINSIC
low complexity region	216	230	N/A	INTRINSIC
AAA	296	435	2.94e-23	SMART
low complexity region	524	540	N/A	INTRINSIC
AAA	613	749	2.56e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193758

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) superfamily. Multiple transcript variants encoding different isoforms have been found for this gene. Two encoded proteins, described as major and minor isoforms, have been localized to distinct regions of the nucleus. The largest encoded protein (major isoform) has been localized to the nucleolus and shown to participate in ribosome biosynthesis (PMID: 15469983, 16782053), while the minor isoform has been localized to the nucleoplasmin. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	T	A	5: 121,657,649 (GRCm39)	Y548F	probably benign	Het
Armc9	T	C	1: 86,127,614 (GRCm39)	L83P	probably damaging	Het
BC051665	A	T	13: 60,932,344 (GRCm39)		probably benign	Het
Casp3	A	G	8: 47,082,791 (GRCm39)	N3S	probably damaging	Het
Ccdc174	G	A	6: 91,865,070 (GRCm39)	M109I	probably benign	Het
Ccr6	T	A	17: 8,475,073 (GRCm39)	F93I	probably damaging	Het
Clvs2	T	C	10: 33,471,811 (GRCm39)	S165G	probably damaging	Het
Cntnap5c	T	C	17: 58,320,941 (GRCm39)	V171A	probably benign	Het
Dennd5a	C	A	7: 109,504,327 (GRCm39)		probably null	Het
Dock2	T	A	11: 34,586,044 (GRCm39)	Y546F	probably benign	Het
Fat2	A	G	11: 55,158,401 (GRCm39)		probably null	Het
Focad	T	A	4: 88,197,481 (GRCm39)	Y625N	unknown	Het
Fyb1	A	G	15: 6,609,435 (GRCm39)	K3E	probably damaging	Het
Gm14496	G	A	2: 181,633,130 (GRCm39)	D38N	probably benign	Het
Gm20403	T	C	12: 55,033,155 (GRCm39)	T54A	probably benign	Het
Gm9830	A	G	9: 44,375,556 (GRCm39)		noncoding transcript	Het
Hectd1	A	T	12: 51,792,277 (GRCm39)	S2487R	probably damaging	Het
Il5ra	A	G	6: 106,715,233 (GRCm39)	L175S	probably benign	Het
Inhca	A	G	9: 103,136,566 (GRCm39)		probably benign	Het
Itgav	C	T	2: 83,633,599 (GRCm39)	R983C	probably damaging	Het
Kcna10	T	C	3: 107,102,032 (GRCm39)	V221A	probably damaging	Het
Kif13b	G	A	14: 64,907,120 (GRCm39)	V35I	probably benign	Het
Kif6	G	A	17: 50,062,258 (GRCm39)	E473K	probably damaging	Het
Mfsd14a	T	C	3: 116,426,042 (GRCm39)	T452A	probably benign	Het
Mllt1	A	G	17: 57,204,398 (GRCm39)	S382P	probably benign	Het
Myo15b	T	C	11: 115,757,398 (GRCm39)	W1083R	probably damaging	Het
Nell2	T	C	15: 95,333,038 (GRCm39)	I174V	probably damaging	Het
Noct	G	A	3: 51,157,117 (GRCm39)		probably null	Het
Ofcc1	T	C	13: 40,250,595 (GRCm39)	S574G	probably benign	Het
Or10a3m	G	A	7: 108,313,339 (GRCm39)	V248I	probably damaging	Het
Or11h4	T	C	14: 50,973,681 (GRCm39)	M313V	probably benign	Het
Or4a75	A	T	2: 89,447,924 (GRCm39)	M204K	possibly damaging	Het
Pip5k1a	A	T	3: 94,972,807 (GRCm39)	S415T	probably damaging	Het
Pkhd1	G	A	1: 20,623,741 (GRCm39)	P785S	probably damaging	Het
Plcg2	A	G	8: 118,339,733 (GRCm39)	Y1048C	probably damaging	Het
Ppp3cb	A	T	14: 20,570,720 (GRCm39)	V337E	probably benign	Het
Prkg2	T	C	5: 99,114,368 (GRCm39)		probably benign	Het
Prl7a2	T	G	13: 27,843,089 (GRCm39)	Y238S	probably benign	Het
Psg28	T	A	7: 18,161,804 (GRCm39)	D233V	probably damaging	Het
Rad50	A	G	11: 53,589,036 (GRCm39)	C221R	probably benign	Het
Rgl3	A	G	9: 21,887,254 (GRCm39)		probably benign	Het
Rgsl1	T	A	1: 153,701,014 (GRCm39)		probably benign	Het
Ror1	C	A	4: 100,299,071 (GRCm39)	R815S	probably damaging	Het
Rrp1b	C	A	17: 32,275,534 (GRCm39)	D360E	probably benign	Het
Ryr3	T	C	2: 112,496,680 (GRCm39)	Q3682R	possibly damaging	Het
Sdr42e1	A	T	8: 118,389,616 (GRCm39)	F342I	possibly damaging	Het
Setd5	A	G	6: 113,128,114 (GRCm39)	R1337G	probably benign	Het
Siglecf	T	C	7: 43,001,140 (GRCm39)	V36A	probably damaging	Het
Slc4a5	G	A	6: 83,239,542 (GRCm39)	G152D	probably damaging	Het
Sptbn4	T	G	7: 27,063,587 (GRCm39)	M2280L	probably benign	Het
Syngr2	T	C	11: 117,703,406 (GRCm39)	I74T	probably damaging	Het
Tm9sf1	T	C	14: 55,878,866 (GRCm39)	I175M	possibly damaging	Het
Tmc3	A	G	7: 83,258,516 (GRCm39)	E502G	probably damaging	Het
Tph1	T	A	7: 46,311,463 (GRCm39)	D88V	possibly damaging	Het
Tpr	A	G	1: 150,295,691 (GRCm39)	K979E	possibly damaging	Het
Usp47	A	G	7: 111,691,934 (GRCm39)	T799A	probably benign	Het
Utf1	A	G	7: 139,523,920 (GRCm39)	E45G	possibly damaging	Het
Vmn1r208	A	T	13: 22,956,772 (GRCm39)	C242S	probably damaging	Het
Wrnip1	T	C	13: 33,004,223 (GRCm39)	I498T	probably damaging	Het
Ypel2	T	A	11: 86,862,699 (GRCm39)	H18L	probably benign	Het
Zan	T	G	5: 137,420,110 (GRCm39)	D2849A	unknown	Het
Zfp647	A	T	15: 76,795,860 (GRCm39)	F267I	probably damaging	Het
Zfp786	G	T	6: 47,797,905 (GRCm39)	H344Q	possibly damaging	Het
Zswim3	G	T	2: 164,662,614 (GRCm39)	A365S	probably benign	Het
Zswim5	T	C	4: 116,830,238 (GRCm39)	W538R	probably damaging	Het

Other mutations in Nvl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Nvl	APN	1	180,932,690 (GRCm39)	missense	probably damaging	1.00
IGL00943:Nvl	APN	1	180,929,199 (GRCm39)	missense	possibly damaging	0.72
IGL01956:Nvl	APN	1	180,962,509 (GRCm39)	missense	probably benign	0.00
IGL02657:Nvl	APN	1	180,934,541 (GRCm39)	missense	probably damaging	1.00
Nineveh	UTSW	1	180,964,471 (GRCm39)	missense	probably benign	0.00
nubia	UTSW	1	180,939,899 (GRCm39)	missense	probably benign	0.19
IGL03098:Nvl	UTSW	1	180,921,471 (GRCm39)	missense	probably benign	0.37
P0047:Nvl	UTSW	1	180,939,867 (GRCm39)	missense	probably damaging	1.00
R0003:Nvl	UTSW	1	180,941,698 (GRCm39)	missense	probably damaging	1.00
R0114:Nvl	UTSW	1	180,947,956 (GRCm39)	missense	probably benign	0.19
R0265:Nvl	UTSW	1	180,962,395 (GRCm39)	missense	probably damaging	0.96
R0928:Nvl	UTSW	1	180,921,467 (GRCm39)	missense	probably benign	0.00
R1398:Nvl	UTSW	1	180,924,691 (GRCm39)	splice site	probably benign
R1470:Nvl	UTSW	1	180,966,827 (GRCm39)	missense	probably damaging	1.00
R1470:Nvl	UTSW	1	180,966,827 (GRCm39)	missense	probably damaging	1.00
R1529:Nvl	UTSW	1	180,936,724 (GRCm39)	critical splice donor site	probably null
R1934:Nvl	UTSW	1	180,926,693 (GRCm39)	missense	probably damaging	0.96
R2351:Nvl	UTSW	1	180,958,357 (GRCm39)	missense	probably benign	0.03
R4415:Nvl	UTSW	1	180,932,679 (GRCm39)	missense	probably benign
R4570:Nvl	UTSW	1	180,971,647 (GRCm39)	missense	probably benign	0.03
R4720:Nvl	UTSW	1	180,929,152 (GRCm39)	missense	probably damaging	1.00
R4888:Nvl	UTSW	1	180,945,191 (GRCm39)	missense	probably damaging	1.00
R5026:Nvl	UTSW	1	180,932,720 (GRCm39)	missense	probably damaging	1.00
R5507:Nvl	UTSW	1	180,962,601 (GRCm39)	missense	probably damaging	0.98
R5785:Nvl	UTSW	1	180,966,863 (GRCm39)	missense	probably damaging	1.00
R5983:Nvl	UTSW	1	180,964,471 (GRCm39)	missense	probably benign	0.00
R6143:Nvl	UTSW	1	180,962,560 (GRCm39)	missense	probably benign	0.01
R6532:Nvl	UTSW	1	180,971,708 (GRCm39)	splice site	probably null
R6821:Nvl	UTSW	1	180,954,535 (GRCm39)	nonsense	probably null
R7062:Nvl	UTSW	1	180,939,899 (GRCm39)	missense	probably benign	0.19
R7247:Nvl	UTSW	1	180,939,851 (GRCm39)	critical splice donor site	probably null
R7358:Nvl	UTSW	1	180,962,601 (GRCm39)	missense	probably damaging	0.98
R7665:Nvl	UTSW	1	180,962,509 (GRCm39)	missense	probably benign	0.18
R7795:Nvl	UTSW	1	180,924,722 (GRCm39)	missense	probably benign	0.00
R7931:Nvl	UTSW	1	180,936,720 (GRCm39)	splice site	probably benign
R8185:Nvl	UTSW	1	180,971,739 (GRCm39)	unclassified	probably benign
R8806:Nvl	UTSW	1	180,922,619 (GRCm39)	missense	probably benign	0.01
R8933:Nvl	UTSW	1	180,966,638 (GRCm39)	missense	probably benign	0.00
R8975:Nvl	UTSW	1	180,958,001 (GRCm39)	missense	probably benign
R9249:Nvl	UTSW	1	180,962,593 (GRCm39)	missense	probably damaging	1.00
R9584:Nvl	UTSW	1	180,958,431 (GRCm39)	missense	probably benign
R9586:Nvl	UTSW	1	180,932,635 (GRCm39)	critical splice donor site	probably null
X0067:Nvl	UTSW	1	180,966,723 (GRCm39)	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- TTCCACCGGGAGTTTTGTC -3'
(R):5'- ATGGTTCTCTGTTAGCCAAGAGTG -3'

Sequencing Primer
(F):5'- CCGGGAGTTTTGTCAATAAACCATCC -3'
(R):5'- CCAAGAGTGGTTTAGTAGTTTCAG -3'

Posted On

2014-10-02