Incidental Mutation 'R2969:Nepn'
| ID |
256064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nepn
|
| Ensembl Gene |
ENSMUSG00000038624 |
| Gene Name |
nephrocan |
| Synonyms |
periolin, Npn, 5730521E12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2969 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
52265068-52280721 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 52276983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 179
(R179*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067085]
[ENSMUST00000219730]
|
| AlphaFold |
Q9CQ76 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000067085
AA Change: R240*
|
| SMART Domains |
Protein: ENSMUSP00000070130
Gene: ENSMUSG00000038624
AA Change: R240*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
LRRNT
|
20 |
51 |
1.11e1 |
SMART |
|
LRR
|
94 |
117 |
7.79e0 |
SMART |
|
LRR
|
139 |
162 |
2.67e-1 |
SMART |
|
LRR
|
163 |
183 |
3.27e2 |
SMART |
|
LRR
|
185 |
208 |
5.72e-1 |
SMART |
|
LRR
|
209 |
232 |
5.88e0 |
SMART |
|
LRR
|
254 |
275 |
2.47e1 |
SMART |
|
LRR_TYP
|
276 |
299 |
4.4e-2 |
SMART |
|
LRR
|
321 |
344 |
2.84e1 |
SMART |
|
low complexity region
|
346 |
360 |
N/A |
INTRINSIC |
|
LRR_TYP
|
390 |
413 |
6.23e-2 |
SMART |
|
Blast:LRRCT
|
425 |
474 |
3e-28 |
BLAST |
|
low complexity region
|
480 |
497 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000160539
AA Change: R179*
|
| SMART Domains |
Protein: ENSMUSP00000124257
Gene: ENSMUSG00000038624
AA Change: R179*
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
33 |
56 |
7.79e0 |
SMART |
|
LRR
|
78 |
101 |
2.67e-1 |
SMART |
|
LRR
|
102 |
122 |
3.27e2 |
SMART |
|
LRR
|
124 |
147 |
5.72e-1 |
SMART |
|
LRR
|
148 |
171 |
5.88e0 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000219730
AA Change: R179*
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
A |
G |
10: 69,830,225 (GRCm39) |
T137A |
probably damaging |
Het |
| Antxr2 |
A |
T |
5: 98,178,275 (GRCm39) |
L45* |
probably null |
Het |
| Armc1 |
T |
C |
3: 19,189,024 (GRCm39) |
S214G |
probably benign |
Het |
| Arsj |
T |
C |
3: 126,233,021 (GRCm39) |
I589T |
probably benign |
Het |
| C8a |
A |
G |
4: 104,710,974 (GRCm39) |
S230P |
probably damaging |
Het |
| Cnga3 |
A |
G |
1: 37,300,159 (GRCm39) |
Y331C |
probably damaging |
Het |
| Gm21976 |
A |
G |
13: 98,423,790 (GRCm39) |
Y33C |
unknown |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gtf2i |
A |
G |
5: 134,280,746 (GRCm39) |
V556A |
probably damaging |
Het |
| Ighv8-12 |
C |
T |
12: 115,611,570 (GRCm39) |
R118Q |
probably benign |
Het |
| Ing4 |
A |
G |
6: 125,024,288 (GRCm39) |
K131E |
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,818,317 (GRCm39) |
R139S |
probably damaging |
Het |
| Nap1l2 |
A |
T |
X: 102,229,254 (GRCm39) |
D221E |
probably benign |
Het |
| Nrxn3 |
G |
A |
12: 89,321,241 (GRCm39) |
C383Y |
probably damaging |
Het |
| Pfpl |
G |
T |
19: 12,406,907 (GRCm39) |
R386L |
probably benign |
Het |
| Rere |
A |
G |
4: 150,654,673 (GRCm39) |
K402E |
unknown |
Het |
| Serpina3n |
C |
T |
12: 104,375,333 (GRCm39) |
T135M |
probably benign |
Het |
| Slc43a1 |
C |
T |
2: 84,687,679 (GRCm39) |
T395I |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Vipas39 |
T |
C |
12: 87,289,345 (GRCm39) |
N373S |
probably benign |
Het |
| Vmn1r128 |
T |
A |
7: 21,084,046 (GRCm39) |
V250D |
probably damaging |
Het |
|
| Other mutations in Nepn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01122:Nepn
|
APN |
10 |
52,267,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01731:Nepn
|
APN |
10 |
52,276,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0099:Nepn
|
UTSW |
10 |
52,277,181 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0123:Nepn
|
UTSW |
10 |
52,276,533 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0134:Nepn
|
UTSW |
10 |
52,276,533 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0225:Nepn
|
UTSW |
10 |
52,276,533 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0613:Nepn
|
UTSW |
10 |
52,277,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1482:Nepn
|
UTSW |
10 |
52,276,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3731:Nepn
|
UTSW |
10 |
52,280,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3790:Nepn
|
UTSW |
10 |
52,276,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3958:Nepn
|
UTSW |
10 |
52,276,804 (GRCm39) |
missense |
probably benign |
|
|
R4423:Nepn
|
UTSW |
10 |
52,267,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5002:Nepn
|
UTSW |
10 |
52,267,850 (GRCm39) |
missense |
probably benign |
|
|
R5294:Nepn
|
UTSW |
10 |
52,276,896 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5580:Nepn
|
UTSW |
10 |
52,280,398 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5607:Nepn
|
UTSW |
10 |
52,277,233 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5986:Nepn
|
UTSW |
10 |
52,280,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7135:Nepn
|
UTSW |
10 |
52,267,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7256:Nepn
|
UTSW |
10 |
52,277,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7713:Nepn
|
UTSW |
10 |
52,277,274 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8213:Nepn
|
UTSW |
10 |
52,267,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8432:Nepn
|
UTSW |
10 |
52,267,880 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8463:Nepn
|
UTSW |
10 |
52,276,896 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9315:Nepn
|
UTSW |
10 |
52,267,869 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9684:Nepn
|
UTSW |
10 |
52,276,801 (GRCm39) |
missense |
probably benign |
0.34 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTTCCGCATCTCAAGTAC -3'
(R):5'- TGGAATTCTGGTGCTGTCAC -3'
Sequencing Primer
(F):5'- CGCATCTCAAGTACATGAGCATGG -3'
(R):5'- AAGCTTCTGTAACCTCGATGG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation