Mutagenetix > Incidental Mutation

Incidental Mutation 'R6480:Nepro'

517060

Institutional Source

Beutler Lab

Gene Symbol

Nepro

Ensembl Gene

ENSMUSG00000036208

Gene Name

nucleolus and neural progenitor protein

Synonyms

BC027231

MMRRC Submission

044612-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44544664-44557647 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44547438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 52 (S52P)

Ref Sequence

ENSEMBL: ENSMUSP00000038779 (fasta)

Gene Model

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

AlphaFold

Q8R2U2

Predicted Effect

probably damaging
Transcript: ENSMUST00000048788
AA Change: S52P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038779
Gene: ENSMUSG00000036208
AA Change: S52P

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

Meta Mutation Damage Score

0.2695

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.4%

Validation Efficiency

98% (57/58)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl8b	T	A	6: 108,792,010 (GRCm39)	N90K	possibly damaging	Het
Art3	T	C	5: 92,540,676 (GRCm39)	F140L	probably damaging	Het
Ascc3	T	A	10: 50,587,049 (GRCm39)	M967K	probably damaging	Het
Ccne1	G	A	7: 37,806,279 (GRCm39)		probably benign	Het
Cdc14b	T	C	13: 64,373,464 (GRCm39)		probably null	Het
Ceacam2	T	A	7: 25,219,414 (GRCm39)	E282V	probably damaging	Het
Clk4	T	A	11: 51,161,373 (GRCm39)	C86*	probably null	Het
Cul2	A	C	18: 3,417,561 (GRCm39)	K115T	possibly damaging	Het
Dhx29	A	T	13: 113,090,322 (GRCm39)	K800*	probably null	Het
Dlec1	T	C	9: 118,976,758 (GRCm39)	F1741S	probably benign	Het
Dnah12	A	G	14: 26,594,412 (GRCm39)	T3455A	probably damaging	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Drd4	A	T	7: 140,874,706 (GRCm39)	I366F	possibly damaging	Het
Fam169b	T	A	7: 68,003,466 (GRCm39)	Y273*	probably null	Het
Fbn1	T	A	2: 125,177,338 (GRCm39)	Y1833F	probably benign	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gjb6	T	C	14: 57,361,899 (GRCm39)	I121V	probably benign	Het
Glg1	T	C	8: 111,924,338 (GRCm39)	T217A	possibly damaging	Het
Igkv5-48	A	G	6: 69,703,810 (GRCm39)	S32P	probably benign	Het
Itgax	C	A	7: 127,747,771 (GRCm39)	F1062L	probably benign	Het
Lct	G	A	1: 128,222,057 (GRCm39)	T1494I	probably damaging	Het
Lilra6	G	A	7: 3,915,932 (GRCm39)	T309I	probably damaging	Het
Mical3	T	C	6: 121,011,236 (GRCm39)	T321A	possibly damaging	Het
Mmp23	T	A	4: 155,736,798 (GRCm39)	N104I	probably damaging	Het
Muc17	T	C	5: 137,171,238 (GRCm39)	Y131C		Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Ndufs2	A	G	1: 171,064,267 (GRCm39)	S348P	probably damaging	Het
Nlrp6	A	G	7: 140,507,356 (GRCm39)	E874G	possibly damaging	Het
Nsmce1	A	G	7: 125,090,590 (GRCm39)	V9A	probably benign	Het
Or1q1	T	C	2: 36,887,007 (GRCm39)	F62L	probably benign	Het
Or2a7	T	C	6: 43,151,000 (GRCm39)	F27L	probably benign	Het
Or5b105	T	A	19: 13,079,838 (GRCm39)	T277S	probably benign	Het
Or6c3	A	T	10: 129,308,590 (GRCm39)	I10F	possibly damaging	Het
Per2	A	T	1: 91,357,104 (GRCm39)		probably null	Het
Pgbd1	T	C	13: 21,607,646 (GRCm39)	I183V	probably benign	Het
Pik3c2g	T	C	6: 139,676,195 (GRCm39)	V113A	probably benign	Het
Pipox	A	G	11: 77,773,474 (GRCm39)	L259P	probably damaging	Het
Pkd1l3	C	T	8: 110,365,019 (GRCm39)	Q1124*	probably null	Het
Plcd3	A	G	11: 102,965,757 (GRCm39)	S492P	possibly damaging	Het
Rcor2	T	G	19: 7,248,411 (GRCm39)	M142R	probably benign	Het
Rwdd3	T	C	3: 120,950,101 (GRCm39)	E115G	probably damaging	Het
Slc13a3	T	C	2: 165,250,818 (GRCm39)	Y475C	probably damaging	Het
Slc14a2	A	T	18: 78,202,297 (GRCm39)	I611N	possibly damaging	Het
Slc25a24	G	T	3: 109,043,617 (GRCm39)	M91I	probably damaging	Het
Spg11	T	C	2: 121,922,786 (GRCm39)	S888G	probably benign	Het
Spta1	A	T	1: 174,014,714 (GRCm39)		probably null	Het
Stk35	C	A	2: 129,652,607 (GRCm39)	D369E	possibly damaging	Het
Tanc1	T	C	2: 59,637,986 (GRCm39)	S889P	probably damaging	Het
Tbc1d10b	T	C	7: 126,798,050 (GRCm39)	N697S	probably damaging	Het
Tcof1	A	T	18: 60,947,852 (GRCm39)		probably null	Het
Tg	T	A	15: 66,543,160 (GRCm39)	Y25N	probably damaging	Het
Thbs1	T	C	2: 117,949,598 (GRCm39)	C563R	probably damaging	Het
Tlr11	A	G	14: 50,600,512 (GRCm39)	S833G	possibly damaging	Het
Uggt2	T	A	14: 119,294,976 (GRCm39)	H550L	probably benign	Het
Utp20	A	G	10: 88,591,048 (GRCm39)		probably null	Het
Wbp1l	T	A	19: 46,642,758 (GRCm39)	L253Q	probably damaging	Het
Zfp433	T	A	10: 81,556,078 (GRCm39)	S161R	possibly damaging	Het
Zfp865	A	G	7: 5,032,782 (GRCm39)	T256A	probably damaging	Het
Zpr1	A	G	9: 46,186,009 (GRCm39)	D160G	probably benign	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
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
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'- AACACATGTTCCCTTATTGATCACC -3'
(R):5'- ACTAGTAAGTGGCAGTGTGAGC -3'

Sequencing Primer
(F):5'- TCCTTAATTTTTATAGTTGAGGCCAG -3'
(R):5'- AGTGTGAGCCTCATGTCCC -3'

Posted On

2018-05-21