Incidental Mutation 'R3958:Nepn'
| ID |
310812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nepn
|
| Ensembl Gene |
ENSMUSG00000038624 |
| Gene Name |
nephrocan |
| Synonyms |
periolin, Npn, 5730521E12Rik |
| MMRRC Submission |
040834-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3958 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
52265068-52280721 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 52276804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 119
(V119A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067085]
[ENSMUST00000219730]
|
| AlphaFold |
Q9CQ76 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067085
AA Change: V180A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000070130
Gene: ENSMUSG00000038624
AA Change: V180A
| 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 benign
Transcript: ENSMUST00000160539
AA Change: V119A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124257
Gene: ENSMUSG00000038624
AA Change: V119A
| 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 benign
Transcript: ENSMUST00000219730
AA Change: V119A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
G |
17: 33,652,738 (GRCm39) |
K266R |
probably benign |
Het |
| Cebpd |
T |
C |
16: 15,705,327 (GRCm39) |
S47P |
possibly damaging |
Het |
| Celf4 |
A |
G |
18: 25,670,811 (GRCm39) |
M124T |
probably benign |
Het |
| Ckap4 |
C |
T |
10: 84,364,028 (GRCm39) |
R345H |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,395,611 (GRCm39) |
V183A |
probably damaging |
Het |
| Cyp2s1 |
C |
T |
7: 25,503,379 (GRCm39) |
R424Q |
probably null |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,344,854 (GRCm39) |
T53A |
probably benign |
Het |
| Glyat |
A |
T |
19: 12,617,197 (GRCm39) |
K16N |
probably benign |
Het |
| Gm6522 |
T |
C |
3: 106,206,120 (GRCm39) |
|
noncoding transcript |
Het |
| Grin1 |
G |
A |
2: 25,203,465 (GRCm39) |
T182M |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,751,331 (GRCm39) |
V319A |
unknown |
Het |
| Hmgcs2 |
T |
C |
3: 98,204,793 (GRCm39) |
F317S |
possibly damaging |
Het |
| Hoxd8 |
C |
T |
2: 74,536,884 (GRCm39) |
Q18* |
probably null |
Het |
| Itpr2 |
C |
T |
6: 146,327,008 (GRCm39) |
V120I |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,753,430 (GRCm39) |
T141M |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,407,827 (GRCm39) |
S1821P |
probably benign |
Het |
| Neb |
T |
C |
2: 52,153,641 (GRCm39) |
E2428G |
probably damaging |
Het |
| Or4k41 |
G |
T |
2: 111,280,230 (GRCm39) |
L248F |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,657,786 (GRCm39) |
D1048G |
probably damaging |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Ppp6r3 |
A |
T |
19: 3,546,583 (GRCm39) |
V305D |
probably damaging |
Het |
| Prkg2 |
G |
T |
5: 99,145,354 (GRCm39) |
T160K |
possibly damaging |
Het |
| Prmt8 |
G |
A |
6: 127,709,707 (GRCm39) |
T51I |
probably benign |
Het |
| Rgl3 |
T |
C |
9: 21,886,885 (GRCm39) |
|
probably benign |
Het |
| Sec23ip |
C |
G |
7: 128,378,574 (GRCm39) |
T796S |
probably benign |
Het |
| Selp |
T |
C |
1: 163,953,855 (GRCm39) |
S52P |
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,259,837 (GRCm39) |
I615T |
probably damaging |
Het |
| Snap91 |
T |
C |
9: 86,720,183 (GRCm39) |
Y118C |
probably damaging |
Het |
| Tmem106b |
A |
T |
6: 13,081,587 (GRCm39) |
N165Y |
probably damaging |
Het |
| Ucp3 |
A |
G |
7: 100,131,946 (GRCm39) |
T266A |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Utrn |
T |
C |
10: 12,625,852 (GRCm39) |
I110V |
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 |
|
R2969:Nepn
|
UTSW |
10 |
52,276,983 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- ATTGAGACAAGTCCCCAGTGC -3'
(R):5'- AGCTGGTTTCTCTCCATCTTTAAAG -3'
Sequencing Primer
(F):5'- TCTCCCAGCCAACCTTGAGG -3'
(R):5'- CTCTCCATCTTTAAAGATAGCAAGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation