Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03120:Npm2'

409959

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Npm2

Ensembl Gene

ENSMUSG00000047911

Gene Name

nucleophosmin/nucleoplasmin 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03120

Quality Score

Status

Chromosome

Chromosomal Location

70884742-70896684 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

C to A at 70890039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154427 (fasta)

Gene Model

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

AlphaFold

Q80W85

Predicted Effect

probably benign
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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	A	G	9: 122,778,118 (GRCm39)	L42P	probably benign	Het
Cacna1e	T	C	1: 154,319,627 (GRCm39)	I1420V	probably damaging	Het
Cemip2	G	A	19: 21,801,207 (GRCm39)	D775N	possibly damaging	Het
Corin	T	C	5: 72,518,032 (GRCm39)	Y263C	probably damaging	Het
Cyp4f15	A	T	17: 32,909,738 (GRCm39)	I112F	probably damaging	Het
Dach1	T	C	14: 98,065,225 (GRCm39)	E724G	probably damaging	Het
Dip2b	T	C	15: 100,101,008 (GRCm39)		probably benign	Het
Dnah2	T	A	11: 69,312,674 (GRCm39)	E4297V	probably damaging	Het
Dot1l	A	G	10: 80,622,107 (GRCm39)		probably benign	Het
Endod1	C	A	9: 14,268,331 (GRCm39)	V385F	probably damaging	Het
Etnppl	A	G	3: 130,414,341 (GRCm39)	T73A	probably damaging	Het
Frmd4b	T	A	6: 97,373,206 (GRCm39)	D104V	possibly damaging	Het
Gp5	T	C	16: 30,127,016 (GRCm39)	I553V	possibly damaging	Het
Gpc5	A	G	14: 115,607,556 (GRCm39)	E386G	possibly damaging	Het
Hbb-bs	A	G	7: 103,476,985 (GRCm39)		probably benign	Het
Klra2	T	A	6: 131,197,180 (GRCm39)	Y273F	probably benign	Het
Lrrc37	T	C	11: 103,507,801 (GRCm39)		probably benign	Het
Msto1	A	T	3: 88,818,116 (GRCm39)	V366E	probably damaging	Het
Mtcl1	A	G	17: 66,686,378 (GRCm39)	S843P	probably damaging	Het
Nhsl2	A	G	X: 101,114,939 (GRCm39)	N97S	probably benign	Het
Npr2	C	T	4: 43,643,133 (GRCm39)	R506C	probably damaging	Het
Olr1	T	C	6: 129,465,898 (GRCm39)	E36G	probably damaging	Het
Or56b2	A	T	7: 104,337,609 (GRCm39)	Y129F	probably benign	Het
Pcdhb19	A	G	18: 37,631,209 (GRCm39)	I335V	probably benign	Het
Pla2g6	T	C	15: 79,171,060 (GRCm39)	D772G	probably damaging	Het
Ppfibp1	C	A	6: 146,899,667 (GRCm39)	D119E	probably benign	Het
Prdm9	T	C	17: 15,765,193 (GRCm39)	N529S	probably benign	Het
Rnf20	T	A	4: 49,649,955 (GRCm39)		probably benign	Het
Spata31h1	A	G	10: 82,120,869 (GRCm39)	V77A	possibly damaging	Het
Tmem132c	T	A	5: 127,640,448 (GRCm39)	V873E	probably benign	Het
Ttn	T	C	2: 76,757,428 (GRCm39)		probably null	Het
Vmn2r54	A	G	7: 12,349,314 (GRCm39)	I756T	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
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
R3714:Npm2	UTSW	14	70,890,060 (GRCm39)	splice site	probably null
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

Posted On

2016-08-02