Incidental Mutation 'R4487:Nepro'
| ID |
331671 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nepro
|
| Ensembl Gene |
ENSMUSG00000036208 |
| Gene Name |
nucleolus and neural progenitor protein |
| Synonyms |
BC027231 |
| MMRRC Submission |
041743-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4487 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
44544664-44557647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44556089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 416
(K416E)
|
| 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 damaging
Transcript: ENSMUST00000048788
AA Change: K416E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038779
Gene: ENSMUSG00000036208
AA Change: K416E
| 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 |
|
| Meta Mutation Damage Score |
0.1575 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310030G06Rik |
A |
G |
9: 50,651,931 (GRCm39) |
L99P |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,588,185 (GRCm39) |
I4467T |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,892,622 (GRCm39) |
D1500E |
possibly damaging |
Het |
| C1ql2 |
A |
T |
1: 120,269,409 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,801,512 (GRCm39) |
S891P |
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
| Htr1b |
A |
T |
9: 81,513,592 (GRCm39) |
D338E |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kif9 |
A |
G |
9: 110,323,552 (GRCm39) |
E225G |
probably null |
Het |
| Krt76 |
T |
C |
15: 101,798,917 (GRCm39) |
K256R |
possibly damaging |
Het |
| Mapk4 |
T |
C |
18: 74,064,046 (GRCm39) |
D392G |
probably damaging |
Het |
| Mthfr |
A |
G |
4: 148,135,884 (GRCm39) |
K278R |
probably benign |
Het |
| Mup4 |
T |
A |
4: 59,960,547 (GRCm39) |
E18V |
probably damaging |
Het |
| Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
| Nmu |
A |
G |
5: 76,491,909 (GRCm39) |
|
probably null |
Het |
| Nt5m |
A |
G |
11: 59,739,173 (GRCm39) |
Y73C |
probably damaging |
Het |
| Oaz3 |
A |
T |
3: 94,342,437 (GRCm39) |
|
probably null |
Het |
| Pgap1 |
A |
G |
1: 54,567,751 (GRCm39) |
S365P |
probably benign |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pus7l |
A |
G |
15: 94,429,498 (GRCm39) |
I440T |
possibly damaging |
Het |
| Raph1 |
C |
T |
1: 60,542,028 (GRCm39) |
S362N |
possibly damaging |
Het |
| Rftn2 |
A |
G |
1: 55,241,311 (GRCm39) |
Y330H |
possibly damaging |
Het |
| Rhot2 |
G |
A |
17: 26,058,467 (GRCm39) |
H580Y |
probably benign |
Het |
| Rnase2a |
A |
T |
14: 51,493,302 (GRCm39) |
M21K |
unknown |
Het |
| Rusf1 |
T |
C |
7: 127,887,530 (GRCm39) |
D24G |
probably damaging |
Het |
| Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
| Snx1 |
A |
T |
9: 65,996,877 (GRCm39) |
V459E |
possibly damaging |
Het |
| Suz12 |
A |
G |
11: 79,922,939 (GRCm39) |
T694A |
probably benign |
Het |
| Tg |
G |
A |
15: 66,543,245 (GRCm39) |
C53Y |
probably damaging |
Het |
| Tor1aip1 |
G |
T |
1: 155,882,870 (GRCm39) |
T326K |
probably damaging |
Het |
| Vmn1r61 |
C |
A |
7: 5,613,924 (GRCm39) |
C130F |
possibly damaging |
Het |
| Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- ACCAAAGAGAGGTTGAAACTCTC -3'
(R):5'- TTAGCACTGCTGTCCCTAGTG -3'
Sequencing Primer
(F):5'- GAGAGGTTGAAACTCTCATTTCC -3'
(R):5'- AGTGTTCTTCAGAGTCCCTTCAGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation