Incidental Mutation 'R1265:Nphs2'
| ID |
151137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nphs2
|
| Ensembl Gene |
ENSMUSG00000026602 |
| Gene Name |
nephrosis 2, podocin |
| Synonyms |
podocin |
| MMRRC Submission |
039332-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.297)
|
| Stock # |
R1265 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156138297-156155605 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 156146317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 173
(T173A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027896
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027896]
[ENSMUST00000177824]
[ENSMUST00000178036]
[ENSMUST00000193020]
|
| AlphaFold |
Q91X05 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027896
AA Change: T173A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027896
Gene: ENSMUSG00000026602
AA Change: T173A
| 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: T98A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141328
Gene: ENSMUSG00000026602
AA Change: T98A
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
50 |
201 |
7.6e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.3%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,836,734 (GRCm39) |
D316G |
possibly damaging |
Het |
| Aebp1 |
T |
C |
11: 5,821,740 (GRCm39) |
V713A |
probably damaging |
Het |
| Alg2 |
T |
C |
4: 47,474,289 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,607,053 (GRCm39) |
V1273E |
possibly damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,356,248 (GRCm39) |
T760A |
possibly damaging |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,913,011 (GRCm39) |
V1779E |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,366,666 (GRCm39) |
V537M |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Ly6h |
T |
A |
15: 75,438,032 (GRCm39) |
M27L |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,172,578 (GRCm39) |
V779A |
probably benign |
Het |
| Or3a1d |
T |
C |
11: 74,237,766 (GRCm39) |
I95V |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,029,124 (GRCm39) |
D82G |
possibly damaging |
Het |
| Pkp2 |
A |
G |
16: 16,043,168 (GRCm39) |
N76S |
probably benign |
Het |
| Ppip5k2 |
A |
G |
1: 97,647,625 (GRCm39) |
S976P |
probably benign |
Het |
| Slc38a3 |
A |
G |
9: 107,529,185 (GRCm39) |
F489S |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,391,735 (GRCm39) |
T225A |
probably benign |
Het |
| Tbx10 |
T |
C |
19: 4,046,625 (GRCm39) |
F35S |
probably damaging |
Het |
| Tcf4 |
T |
C |
18: 69,776,003 (GRCm39) |
M40T |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Thsd7a |
T |
C |
6: 12,317,418 (GRCm39) |
N1630S |
probably damaging |
Het |
| Urb2 |
A |
G |
8: 124,751,892 (GRCm39) |
D75G |
probably damaging |
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 |
|
R0654: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 |
2014-01-29 |
Incidental Mutation