Incidental Mutation 'R0654:Nphs2'
| ID |
62418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nphs2
|
| Ensembl Gene |
ENSMUSG00000026602 |
| Gene Name |
nephrosis 2, podocin |
| Synonyms |
podocin |
| MMRRC Submission |
038839-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R0654 (G1)
|
| Quality Score |
97 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156138297-156155605 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 156146317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 98
(T98P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027896]
[ENSMUST00000177824]
[ENSMUST00000178036]
[ENSMUST00000193020]
|
| AlphaFold |
Q91X05 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027896
AA Change: T173P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027896
Gene: ENSMUSG00000026602
AA Change: T173P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
73 |
N/A |
INTRINSIC |
|
PHB
|
125 |
284 |
7.31e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177824
|
| SMART Domains |
Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ax_dynein_light
|
131 |
314 |
2.4e-12 |
PFAM |
|
low complexity region
|
405 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
452 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
677 |
N/A |
INTRINSIC |
|
coiled coil region
|
787 |
837 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178036
|
| SMART Domains |
Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ax_dynein_light
|
196 |
380 |
3.3e-14 |
PFAM |
|
low complexity region
|
470 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
742 |
N/A |
INTRINSIC |
|
coiled coil region
|
889 |
939 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193020
AA Change: T98P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141328
Gene: ENSMUSG00000026602
AA Change: T98P
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
50 |
201 |
7.6e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display kidney glomerular defects leading to blood and urine chemistry abnormalities. Death usually occurs before 5 weeks of age. [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 |
|---|
| Asb13 |
A |
C |
13: 3,692,092 (GRCm39) |
H24P |
probably damaging |
Het |
| Avpr1b |
T |
A |
1: 131,527,480 (GRCm39) |
M1K |
probably null |
Het |
| Baz1a |
T |
C |
12: 54,958,182 (GRCm39) |
E1023G |
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
| Cfap157 |
C |
T |
2: 32,669,954 (GRCm39) |
V210M |
probably damaging |
Het |
| Clock |
A |
G |
5: 76,374,976 (GRCm39) |
V731A |
possibly damaging |
Het |
| Cntn6 |
C |
T |
6: 104,753,389 (GRCm39) |
T447I |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,421,556 (GRCm39) |
I288T |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,076,639 (GRCm39) |
F494S |
possibly damaging |
Het |
| Fibin |
T |
A |
2: 110,192,962 (GRCm39) |
D60V |
probably damaging |
Het |
| Fnd3c2 |
G |
A |
X: 105,290,760 (GRCm39) |
T302I |
possibly damaging |
Het |
| Foxp3 |
A |
G |
X: 7,457,639 (GRCm39) |
I281V |
probably benign |
Het |
| Fryl |
A |
G |
5: 73,240,715 (GRCm39) |
I1295T |
probably benign |
Het |
| Gpr82 |
T |
C |
X: 13,531,829 (GRCm39) |
S126P |
probably benign |
Het |
| Gria4 |
T |
A |
9: 4,464,372 (GRCm39) |
Q530L |
probably benign |
Het |
| Hivep1 |
A |
C |
13: 42,313,232 (GRCm39) |
D1824A |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,966,218 (GRCm39) |
V400A |
possibly damaging |
Het |
| Map3k21 |
C |
A |
8: 126,668,759 (GRCm39) |
L782I |
probably benign |
Het |
| Pdss2 |
CGGAG |
CG |
10: 43,097,927 (GRCm39) |
|
probably benign |
Het |
| Pkd2l1 |
A |
G |
19: 44,146,070 (GRCm39) |
|
probably null |
Het |
| Rbm28 |
A |
T |
6: 29,128,577 (GRCm39) |
S48R |
probably damaging |
Het |
| Rimkla |
C |
T |
4: 119,335,177 (GRCm39) |
V69M |
probably damaging |
Het |
| Scg3 |
T |
A |
9: 75,573,017 (GRCm39) |
I305F |
probably damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,881,679 (GRCm39) |
N310I |
probably damaging |
Het |
| Slc26a9 |
T |
C |
1: 131,692,768 (GRCm39) |
V700A |
probably benign |
Het |
| Snx15 |
T |
C |
19: 6,171,915 (GRCm39) |
I140V |
probably benign |
Het |
| Spryd3 |
C |
T |
15: 102,036,969 (GRCm39) |
|
probably null |
Het |
| Srebf1 |
T |
C |
11: 60,094,942 (GRCm39) |
T486A |
probably benign |
Het |
| Syne2 |
AGAGTGAG |
AGAGTGAGTGAG |
12: 76,144,734 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
T |
A |
3: 22,258,158 (GRCm39) |
|
probably null |
Het |
| Tmcc1 |
A |
T |
6: 116,019,951 (GRCm39) |
H281Q |
probably benign |
Het |
| Ttc39b |
T |
A |
4: 83,159,938 (GRCm39) |
M413L |
probably benign |
Het |
| Vmn2r101 |
C |
A |
17: 19,810,373 (GRCm39) |
H386Q |
probably benign |
Het |
| Zbtb47 |
T |
C |
9: 121,592,327 (GRCm39) |
F251L |
probably benign |
Het |
|
| Other mutations in Nphs2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01366:Nphs2
|
APN |
1 |
156,138,605 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL03206:Nphs2
|
APN |
1 |
156,153,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1265:Nphs2
|
UTSW |
1 |
156,146,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Nphs2
|
UTSW |
1 |
156,148,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2033:Nphs2
|
UTSW |
1 |
156,151,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3767:Nphs2
|
UTSW |
1 |
156,140,608 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4610:Nphs2
|
UTSW |
1 |
156,153,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4930:Nphs2
|
UTSW |
1 |
156,148,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5694:Nphs2
|
UTSW |
1 |
156,153,607 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6131:Nphs2
|
UTSW |
1 |
156,153,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6147:Nphs2
|
UTSW |
1 |
156,146,296 (GRCm39) |
nonsense |
probably null |
|
|
R6454:Nphs2
|
UTSW |
1 |
156,146,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6716:Nphs2
|
UTSW |
1 |
156,148,637 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8037:Nphs2
|
UTSW |
1 |
156,138,400 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9029:Nphs2
|
UTSW |
1 |
156,140,592 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9192:Nphs2
|
UTSW |
1 |
156,138,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9249:Nphs2
|
UTSW |
1 |
156,144,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9274:Nphs2
|
UTSW |
1 |
156,144,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF048:Nphs2
|
UTSW |
1 |
156,138,541 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2013-07-30 |
Incidental Mutation