Mutagenetix > Incidental Mutation

Incidental Mutation 'R7149:Nepro'

554029

Institutional Source

Beutler Lab

Gene Symbol

Nepro

Ensembl Gene

ENSMUSG00000036208

Gene Name

nucleolus and neural progenitor protein

Synonyms

BC027231

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7149 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44544664-44557647 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 44550078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048788] [ENSMUST00000123673] [ENSMUST00000147804]

AlphaFold

Q8R2U2

Predicted Effect

probably null
Transcript: ENSMUST00000048788

SMART Domains

Protein: ENSMUSP00000038779
Gene: ENSMUSG00000036208

Domain	Start	End	E-Value	Type
Pfam:DUF4477	12	202	3.2e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123673

Predicted Effect

probably benign
Transcript: ENSMUST00000132610

SMART Domains

Protein: ENSMUSP00000116115
Gene: ENSMUSG00000036208

Domain	Start	End	E-Value	Type
Pfam:DUF4477	1	118	7.5e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147804

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit lethality prior to implantation with a failure to form a blastocyst. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	C	11: 100,375,451 (GRCm39)	F790V	probably damaging	Het
Atf4	AAGCGGGCTGAGC	AAGC	15: 80,141,500 (GRCm39)		probably benign	Het
Brd8	C	T	18: 34,737,650 (GRCm39)		probably null	Het
Bsn	A	T	9: 107,993,520 (GRCm39)	L744*	probably null	Het
Capn9	A	G	8: 125,332,448 (GRCm39)	D429G	probably benign	Het
CK137956	A	T	4: 127,864,626 (GRCm39)	M1K	probably null	Het
Cnot6	G	A	11: 49,570,970 (GRCm39)	P341S	probably benign	Het
Cracdl	G	A	1: 37,651,352 (GRCm39)	Q1172*	probably null	Het
Dld	T	G	12: 31,385,589 (GRCm39)	I251L	probably benign	Het
Dlg5	T	C	14: 24,240,492 (GRCm39)	K253R	probably benign	Het
Dnmt3a	C	T	12: 3,952,397 (GRCm39)	P696L	probably damaging	Het
Dph1	T	C	11: 75,070,001 (GRCm39)	K409E	probably benign	Het
Dsg2	T	C	18: 20,712,511 (GRCm39)	S172P	probably damaging	Het
Gm1979	T	C	5: 26,206,945 (GRCm39)	N136S	probably benign	Het
Gm2663	A	T	6: 40,974,891 (GRCm39)	L60Q	probably damaging	Het
Hdac10	A	G	15: 89,011,652 (GRCm39)	F144S	probably damaging	Het
Ifi203	T	C	1: 173,756,494 (GRCm39)	T430A	unknown	Het
Itgb2l	T	C	16: 96,234,759 (GRCm39)	D244G	probably damaging	Het
Klk1b9	A	T	7: 43,628,841 (GRCm39)	Y115F	probably benign	Het
Llcfc1	C	A	6: 41,662,251 (GRCm39)	A85E	possibly damaging	Het
Lrp1b	C	T	2: 40,527,872 (GRCm39)	V4330M		Het
Map3k13	A	G	16: 21,744,187 (GRCm39)	E811G	probably benign	Het
Myl6b	A	G	10: 128,333,068 (GRCm39)		probably null	Het
Myo15a	G	A	11: 60,400,836 (GRCm39)	A2997T	possibly damaging	Het
Nalcn	T	C	14: 123,837,277 (GRCm39)	D29G	probably benign	Het
Nlrp1b	T	A	11: 71,072,482 (GRCm39)	R454*	probably null	Het
Nlrp4a	T	C	7: 26,149,863 (GRCm39)	V490A	probably benign	Het
Or1e1f	G	A	11: 73,856,257 (GRCm39)	M274I	probably benign	Het
Or2l13	T	C	16: 19,306,260 (GRCm39)	V224A	probably damaging	Het
Pde8b	T	G	13: 95,223,349 (GRCm39)	M197L	probably benign	Het
Phldb2	T	A	16: 45,571,895 (GRCm39)	K1166*	probably null	Het
Plekhm1	A	G	11: 103,285,742 (GRCm39)	I231T	probably damaging	Het
Ppp6r2	T	C	15: 89,146,599 (GRCm39)	I199T	probably damaging	Het
Ptch1	G	T	13: 63,659,550 (GRCm39)	H1368N	probably benign	Het
Ptprj	T	A	2: 90,274,790 (GRCm39)	T1191S	possibly damaging	Het
Rapgef1	T	C	2: 29,610,712 (GRCm39)	S748P	probably damaging	Het
Rigi	T	C	4: 40,222,079 (GRCm39)	D445G	possibly damaging	Het
Rnmt	T	C	18: 68,452,222 (GRCm39)	S420P	probably damaging	Het
Sgms2	A	G	3: 131,129,908 (GRCm39)	F160S	possibly damaging	Het
Sim1	G	T	10: 50,785,636 (GRCm39)	R235L	probably damaging	Het
Slco1a7	A	G	6: 141,690,178 (GRCm39)	S192P	probably damaging	Het
Smarcad1	T	A	6: 65,029,716 (GRCm39)	D101E	probably benign	Het
Smarcc2	G	A	10: 128,318,598 (GRCm39)	V627M	probably damaging	Het
Supt20	G	A	3: 54,635,832 (GRCm39)	R241H	unknown	Het
Tagln2	T	A	1: 172,333,386 (GRCm39)	I80N	probably damaging	Het
Tmod2	G	A	9: 75,489,167 (GRCm39)	T226I	possibly damaging	Het
Vmn2r80	A	T	10: 79,030,654 (GRCm39)	I827F	probably benign	Het
Vmn2r96	T	A	17: 18,817,989 (GRCm39)	M714K	possibly damaging	Het
Vps8	C	A	16: 21,278,526 (GRCm39)	D261E	probably damaging	Het
Yeats2	C	A	16: 19,972,939 (GRCm39)	A31E	probably damaging	Het
Zfp451	C	T	1: 33,816,405 (GRCm39)	R515Q	probably damaging	Het
Zfp553	A	G	7: 126,835,605 (GRCm39)	S387G	possibly damaging	Het

Other mutations in Nepro

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Nepro	APN	16	44,549,668 (GRCm39)	nonsense	probably null
IGL01688:Nepro	APN	16	44,556,369 (GRCm39)	missense	probably damaging	0.97
IGL03149:Nepro	APN	16	44,547,462 (GRCm39)	missense	probably damaging	1.00
IGL03046:Nepro	UTSW	16	44,552,509 (GRCm39)	unclassified	probably benign
R0839:Nepro	UTSW	16	44,556,382 (GRCm39)	missense	probably benign	0.27
R1619:Nepro	UTSW	16	44,547,391 (GRCm39)	missense	probably benign	0.01
R1777:Nepro	UTSW	16	44,556,216 (GRCm39)	missense	probably damaging	0.99
R4273:Nepro	UTSW	16	44,556,192 (GRCm39)	missense	possibly damaging	0.47
R4487:Nepro	UTSW	16	44,556,089 (GRCm39)	missense	probably damaging	1.00
R4750:Nepro	UTSW	16	44,550,545 (GRCm39)	missense	probably damaging	1.00
R4841:Nepro	UTSW	16	44,555,160 (GRCm39)	missense	probably null	1.00
R4842:Nepro	UTSW	16	44,555,160 (GRCm39)	missense	probably null	1.00
R4869:Nepro	UTSW	16	44,550,536 (GRCm39)	missense	probably damaging	1.00
R4973:Nepro	UTSW	16	44,555,156 (GRCm39)	missense	probably benign	0.16
R4988:Nepro	UTSW	16	44,554,905 (GRCm39)	missense	possibly damaging	0.95
R6480:Nepro	UTSW	16	44,547,438 (GRCm39)	missense	probably damaging	1.00
R6830:Nepro	UTSW	16	44,551,720 (GRCm39)	missense	probably damaging	1.00
R8024:Nepro	UTSW	16	44,551,778 (GRCm39)	missense	probably benign	0.05
R9256:Nepro	UTSW	16	44,544,790 (GRCm39)	missense	probably benign	0.01
R9430:Nepro	UTSW	16	44,552,460 (GRCm39)	missense	possibly damaging	0.50
R9607:Nepro	UTSW	16	44,551,832 (GRCm39)	missense	probably damaging	1.00
U24488:Nepro	UTSW	16	44,554,949 (GRCm39)	missense	probably benign	0.02
X0067:Nepro	UTSW	16	44,555,066 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- GGGACTCATAGGTTGCAGTG -3'
(R):5'- GTACTTGCTAGGTAGAGACACAGAG -3'

Sequencing Primer
(F):5'- TGCATACTGCTGCAGAGATGC -3'
(R):5'- AGAGTCCCTGGCCCCAG -3'

Posted On

2019-05-15