Mutagenetix > Incidental Mutation

Incidental Mutation 'R3714:Npm2'

259812

Institutional Source

Beutler Lab

Gene Symbol

Npm2

Ensembl Gene

ENSMUSG00000047911

Gene Name

nucleophosmin/nucleoplasmin 2

Synonyms

MMRRC Submission

040707-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70884742-70896684 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 70890060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000057365 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062629] [ENSMUST00000167242] [ENSMUST00000228473]

AlphaFold

Q80W85

Predicted Effect

probably null
Transcript: ENSMUST00000062629

SMART Domains

Protein: ENSMUSP00000057365
Gene: ENSMUSG00000047911

Domain	Start	End	E-Value	Type
Pfam:Nucleoplasmin	15	201	3.7e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167242

SMART Domains

Protein: ENSMUSP00000129504
Gene: ENSMUSG00000022100

Domain	Start	End	E-Value	Type
IBN_N	30	96	3.52e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000228473

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Female mice homozygous for disruptions in this gene display reduced fertility. While egg maturation and fertilization are grossly normal, cleavage to the two cell stage or beyond is apparently abnormal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Abcd4	C	T	12: 84,658,533 (GRCm39)	M223I	probably benign	Het
Adck5	G	A	15: 76,478,138 (GRCm39)	V229I	probably damaging	Het
Afg2a	G	A	3: 37,487,358 (GRCm39)	V407I	probably benign	Het
Ankk1	T	G	9: 49,333,013 (GRCm39)	D157A	possibly damaging	Het
Atp1a2	A	G	1: 172,106,551 (GRCm39)	I817T	probably damaging	Het
Ccdc87	A	G	19: 4,890,287 (GRCm39)	S260G	probably benign	Het
Cers3	G	T	7: 66,435,823 (GRCm39)	A261S	probably benign	Het
Cibar2	C	T	8: 120,901,576 (GRCm39)	R43H	probably damaging	Het
Cntnap5c	C	T	17: 58,199,062 (GRCm39)	Q119*	probably null	Het
Cpb2	T	A	14: 75,520,657 (GRCm39)		probably null	Het
Ddx47	T	A	6: 134,996,025 (GRCm39)	I329K	probably damaging	Het
Elavl3	G	T	9: 21,929,895 (GRCm39)	D336E	probably benign	Het
Fcsk	G	T	8: 111,613,891 (GRCm39)	D723E	probably damaging	Het
Fras1	T	C	5: 96,793,829 (GRCm39)		probably null	Het
Garem1	T	A	18: 21,281,947 (GRCm39)	E136D	probably damaging	Het
Haus6	A	G	4: 86,521,104 (GRCm39)	I178T	probably benign	Het
Igkv3-2	T	G	6: 70,675,480 (GRCm39)	V10G	possibly damaging	Het
Jrkl	A	C	9: 13,244,236 (GRCm39)	I475R	possibly damaging	Het
Lcmt1	C	T	7: 123,003,683 (GRCm39)	H146Y	probably damaging	Het
Lipk	A	G	19: 34,017,829 (GRCm39)	N289S	probably damaging	Het
Mb	A	G	15: 76,901,789 (GRCm39)	V102A	probably benign	Het
Mc4r	T	A	18: 66,992,892 (GRCm39)	N74Y	probably damaging	Het
Mink1	G	T	11: 70,499,776 (GRCm39)	R773L	possibly damaging	Het
Mroh2b	A	G	15: 4,973,131 (GRCm39)	I1045V	probably benign	Het
Myo15a	A	T	11: 60,370,057 (GRCm39)	E939V	possibly damaging	Het
Ndufs7	T	C	10: 80,088,255 (GRCm39)	I14T	probably benign	Het
Nlrp4b	T	C	7: 10,448,808 (GRCm39)	V337A	probably benign	Het
Or10ab4	T	C	7: 107,654,642 (GRCm39)	F151S	probably damaging	Het
Or2h2c	A	G	17: 37,422,227 (GRCm39)	Y216H	probably damaging	Het
Or4a68	G	A	2: 89,269,727 (GRCm39)	L299F	probably damaging	Het
Prdm9	T	A	17: 15,777,623 (GRCm39)	K154*	probably null	Het
Prkch	C	T	12: 73,822,290 (GRCm39)	P630S	probably damaging	Het
Ptprn	T	C	1: 75,229,411 (GRCm39)		probably null	Het
Rnf31	T	A	14: 55,840,851 (GRCm39)	D884E	probably damaging	Het
Semp2l2a	T	G	8: 13,886,736 (GRCm39)	I452L	probably benign	Het
Slc22a27	A	T	19: 7,903,815 (GRCm39)	N107K	possibly damaging	Het
Tln1	G	T	4: 43,540,597 (GRCm39)	A1468D	probably damaging	Het
Tmem185b	T	A	1: 119,454,781 (GRCm39)	F181I	possibly damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Trappc11	T	C	8: 47,958,351 (GRCm39)		probably benign	Het
Vmn1r218	A	T	13: 23,321,081 (GRCm39)	N63Y	probably damaging	Het
Vps37c	A	G	19: 10,683,632 (GRCm39)	D18G	probably damaging	Het

Other mutations in Npm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02929:Npm2	APN	14	70,889,678 (GRCm39)	critical splice acceptor site	probably null
IGL03120:Npm2	APN	14	70,890,039 (GRCm39)	utr 5 prime	probably benign
R0410:Npm2	UTSW	14	70,889,993 (GRCm39)	missense	probably benign	0.15
R1172:Npm2	UTSW	14	70,889,661 (GRCm39)	nonsense	probably null
R2179:Npm2	UTSW	14	70,885,749 (GRCm39)	missense	probably benign	0.02
R4134:Npm2	UTSW	14	70,885,822 (GRCm39)	missense	possibly damaging	0.86
R4485:Npm2	UTSW	14	70,885,749 (GRCm39)	missense	possibly damaging	0.87
R4818:Npm2	UTSW	14	70,889,842 (GRCm39)	missense	probably benign	0.04
R5760:Npm2	UTSW	14	70,886,935 (GRCm39)	missense	probably damaging	1.00
R7807:Npm2	UTSW	14	70,889,947 (GRCm39)	splice site	probably null
R8819:Npm2	UTSW	14	70,885,768 (GRCm39)	missense	probably damaging	1.00
R8820:Npm2	UTSW	14	70,885,768 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTGATTGAGTTCACTACCTG -3'
(R):5'- GAAGCGGGAAACTTGGCTTC -3'

Sequencing Primer
(F):5'- GATTGAGTTCACTACCTGCACAG -3'
(R):5'- AACTTGGCTTCTAGTTTTTAATGGC -3'

Posted On

2015-01-23