Mutagenetix > Incidental Mutation

Incidental Mutation 'U24488:Nepro'

509905

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 #

U24488 (G0')

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44544664-44557647 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44554949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 342 (T342A)

Ref Sequence

ENSEMBL: ENSMUSP00000038779 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023348] [ENSMUST00000048788] [ENSMUST00000123673] [ENSMUST00000147804] [ENSMUST00000161436] [ENSMUST00000162512]

AlphaFold

Q8R2U2

Predicted Effect

probably benign
Transcript: ENSMUST00000023348

SMART Domains

Protein: ENSMUSP00000023348
Gene: ENSMUSG00000022668

Domain	Start	End	E-Value	Type
Pfam:SRPRB	42	164	4.1e-7	PFAM
Pfam:GTP_EFTU	42	214	3.4e-9	PFAM
Pfam:FeoB_N	45	208	5.9e-6	PFAM
Pfam:MMR_HSR1	46	161	5e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000048788
AA Change: T342A

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000038779
Gene: ENSMUSG00000036208
AA Change: T342A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123673

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130805

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161436

SMART Domains

Protein: ENSMUSP00000123974
Gene: ENSMUSG00000022668

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	65	230	5.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162512

SMART Domains

Protein: ENSMUSP00000125352
Gene: ENSMUSG00000022668

Domain	Start	End	E-Value	Type
Pfam:SRPRB	109	250	1.8e-7	PFAM
Pfam:MMR_HSR1	113	228	1.1e-18	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	A	G	11: 5,580,772 (GRCm39)	Y922C	probably damaging	Het
Arhgef40	A	G	14: 52,235,673 (GRCm39)	T1185A	probably benign	Het
Atf7ip2	A	G	16: 10,022,537 (GRCm39)	N72S	probably damaging	Het
Carmil3	A	G	14: 55,734,636 (GRCm39)	D455G	probably benign	Het
Ccdc171	A	T	4: 83,579,954 (GRCm39)	E567V	probably damaging	Het
Chmp1b	T	A	18: 67,338,945 (GRCm39)	L125Q	probably damaging	Het
Cnr1	T	A	4: 33,944,927 (GRCm39)	N438K	probably benign	Het
Cplane1	G	T	15: 8,211,694 (GRCm39)	G345C	probably damaging	Het
Csmd3	G	A	15: 47,573,795 (GRCm39)	T2091M	probably damaging	Het
Cyp4a29	A	T	4: 115,108,204 (GRCm39)	H342L	possibly damaging	Het
Dnah10	G	A	5: 124,891,044 (GRCm39)	D3212N	probably damaging	Het
Dnah2	G	A	11: 69,374,648 (GRCm39)	T1447I	probably damaging	Het
F11	A	G	8: 45,695,349 (GRCm39)	S540P	probably benign	Het
Fcrl6	T	A	1: 172,426,437 (GRCm39)	H120L	probably damaging	Het
Frmd6	T	C	12: 70,940,653 (GRCm39)	S433P	probably damaging	Het
Fundc1	G	T	X: 17,434,342 (GRCm39)	A64E	probably damaging	Het
Garin2	A	T	12: 78,761,811 (GRCm39)	K158N	probably damaging	Het
Grid1	A	G	14: 35,302,534 (GRCm39)	E933G	probably benign	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hoxb3	C	A	11: 96,235,456 (GRCm39)	Q128K	probably benign	Het
Il6st	C	T	13: 112,631,168 (GRCm39)	T369M	possibly damaging	Het
Itk	A	C	11: 46,228,971 (GRCm39)	M403R	probably damaging	Het
Katnip	A	T	7: 125,369,853 (GRCm39)	D147V	probably damaging	Het
Kif2c	T	C	4: 117,039,639 (GRCm39)	Q17R	probably benign	Het
Kifap3	T	C	1: 163,610,604 (GRCm39)	I28T	possibly damaging	Het
Kit	A	T	5: 75,783,674 (GRCm39)	R384*	probably null	Het
Ksr1	T	A	11: 78,938,267 (GRCm39)	I42F	probably damaging	Het
Lhcgr	T	A	17: 89,079,513 (GRCm39)		probably null	Het
Lrrc36	C	T	8: 106,176,384 (GRCm39)	H253Y	probably benign	Het
Mad1l1	T	A	5: 140,300,840 (GRCm39)	N19Y	probably damaging	Het
Marf1	A	T	16: 13,950,230 (GRCm39)	L1022*	probably null	Het
Mical3	T	G	6: 120,978,457 (GRCm39)	Q225P	possibly damaging	Het
Minar1	C	A	9: 89,485,100 (GRCm39)	G99V	probably damaging	Het
Myt1l	T	A	12: 29,876,895 (GRCm39)	M182K	unknown	Het
Nlrp5	A	T	7: 23,117,653 (GRCm39)	D459V	possibly damaging	Het
Nrcam	C	T	12: 44,584,042 (GRCm39)	P39S	probably damaging	Het
Or2ag1b	A	T	7: 106,288,296 (GRCm39)	I214N	probably damaging	Het
Ostm1	A	G	10: 42,555,227 (GRCm39)	D83G	possibly damaging	Het
Otoa	A	T	7: 120,717,763 (GRCm39)		probably null	Het
Pi4ka	A	G	16: 17,143,040 (GRCm39)	I824T	probably damaging	Het
Plec	C	T	15: 76,061,930 (GRCm39)	R2534H	probably benign	Het
Plin2	A	G	4: 86,580,314 (GRCm39)	V60A	probably damaging	Het
Rps6ka4	A	G	19: 6,809,724 (GRCm39)	L367P	probably damaging	Het
Senp7	A	G	16: 56,005,182 (GRCm39)	N912D	probably damaging	Het
Slc25a21	G	T	12: 56,785,282 (GRCm39)	N198K	possibly damaging	Het
Slc4a10	A	G	2: 61,877,002 (GRCm39)	D5G	probably benign	Het
Tex16	T	C	X: 111,028,815 (GRCm39)	V438A	probably benign	Het
Tmem37	T	C	1: 119,995,684 (GRCm39)	Y131C	probably benign	Het
Top2a	A	C	11: 98,913,252 (GRCm39)	M60R	probably damaging	Het
Ush2a	C	T	1: 188,162,963 (GRCm39)	T1015I	probably damaging	Het
Vmn1r172	A	T	7: 23,359,171 (GRCm39)	I19F	probably benign	Het
Vmn1r230	A	C	17: 21,067,014 (GRCm39)	I68L	probably benign	Het
Vmn2r45	A	C	7: 8,475,361 (GRCm39)	C556G	probably damaging	Het
Vmn2r54	A	G	7: 12,349,356 (GRCm39)	I742T	possibly damaging	Het
Vps13c	A	G	9: 67,813,198 (GRCm39)	K960E	probably benign	Het
Wdcp	T	A	12: 4,900,405 (GRCm39)	V87E	probably damaging	Het
Wiz	C	T	17: 32,606,649 (GRCm39)	E29K	probably damaging	Het
Wnk3	C	T	X: 149,992,456 (GRCm39)	T298I	probably damaging	Het
Yif1b	A	C	7: 28,943,594 (GRCm39)	Q56P	probably benign	Het
Zbtb25	A	G	12: 76,396,014 (GRCm39)	W403R	probably benign	Het
Zcrb1	A	T	15: 93,285,515 (GRCm39)	S155R	probably damaging	Het
Zmym4	A	T	4: 126,819,453 (GRCm39)	I150K	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
R7149:Nepro	UTSW	16	44,550,078 (GRCm39)	critical splice donor site	probably null
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
X0067:Nepro	UTSW	16	44,555,066 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- TAGGACTTGCCTCTGTAGAAGG -3'
(R):5'- AGAAGTTTGTTGCCCAGAAAGG -3'

Sequencing Primer
(F):5'- ACTTGCCTCTGTAGAAGGATAAAG -3'
(R):5'- TTGTTGCCCAGAAAGGTAGCC -3'

Posted On

2018-04-02