Incidental Mutation 'R6119:Nbr1'
ID |
485673 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nbr1
|
Ensembl Gene |
ENSMUSG00000017119 |
Gene Name |
NBR1, autophagy cargo receptor |
Synonyms |
|
MMRRC Submission |
044429-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6119 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
101442975-101472777 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 101457938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071537]
[ENSMUST00000103098]
[ENSMUST00000103099]
[ENSMUST00000107208]
[ENSMUST00000107212]
[ENSMUST00000107213]
[ENSMUST00000107218]
[ENSMUST00000123558]
|
AlphaFold |
P97432 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071537
AA Change: N239S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000071467 Gene: ENSMUSG00000017119 AA Change: N239S
Domain | Start | End | E-Value | Type |
PB1
|
4 |
86 |
2.05e-8 |
SMART |
ZnF_ZZ
|
212 |
257 |
1.21e-13 |
SMART |
coiled coil region
|
291 |
330 |
N/A |
INTRINSIC |
Pfam:N_BRCA1_IG
|
378 |
479 |
7.1e-34 |
PFAM |
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
coiled coil region
|
714 |
744 |
N/A |
INTRINSIC |
PDB:2MJ5|B
|
935 |
981 |
2e-24 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103098
AA Change: N239S
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099387 Gene: ENSMUSG00000017119 AA Change: N239S
Domain | Start | End | E-Value | Type |
PB1
|
4 |
86 |
7.02e-16 |
SMART |
ZnF_ZZ
|
212 |
257 |
1.21e-13 |
SMART |
coiled coil region
|
291 |
330 |
N/A |
INTRINSIC |
PDB:4OLE|D
|
368 |
486 |
5e-77 |
PDB |
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
coiled coil region
|
714 |
744 |
N/A |
INTRINSIC |
PDB:2MJ5|B
|
935 |
981 |
2e-24 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103099
AA Change: N239S
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000099388 Gene: ENSMUSG00000017119 AA Change: N239S
Domain | Start | End | E-Value | Type |
PB1
|
4 |
86 |
7.02e-16 |
SMART |
ZnF_ZZ
|
212 |
257 |
1.21e-13 |
SMART |
coiled coil region
|
291 |
330 |
N/A |
INTRINSIC |
PDB:4OLE|D
|
368 |
486 |
5e-77 |
PDB |
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
coiled coil region
|
714 |
744 |
N/A |
INTRINSIC |
PDB:2MJ5|B
|
935 |
981 |
2e-24 |
PDB |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107208
AA Change: N239S
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102826 Gene: ENSMUSG00000017119 AA Change: N239S
Domain | Start | End | E-Value | Type |
PB1
|
4 |
86 |
7.02e-16 |
SMART |
ZnF_ZZ
|
212 |
257 |
1.21e-13 |
SMART |
coiled coil region
|
291 |
330 |
N/A |
INTRINSIC |
PDB:4OLE|D
|
368 |
486 |
1e-77 |
PDB |
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
coiled coil region
|
714 |
744 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107212
AA Change: N239S
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000102830 Gene: ENSMUSG00000017119 AA Change: N239S
Domain | Start | End | E-Value | Type |
PB1
|
4 |
86 |
7.02e-16 |
SMART |
ZnF_ZZ
|
212 |
257 |
1.21e-13 |
SMART |
coiled coil region
|
291 |
330 |
N/A |
INTRINSIC |
PDB:4OLE|D
|
368 |
486 |
3e-77 |
PDB |
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
coiled coil region
|
689 |
719 |
N/A |
INTRINSIC |
PDB:2MJ5|B
|
910 |
956 |
2e-24 |
PDB |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107213
AA Change: N239S
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000102831 Gene: ENSMUSG00000017119 AA Change: N239S
Domain | Start | End | E-Value | Type |
PB1
|
4 |
86 |
7.02e-16 |
SMART |
ZnF_ZZ
|
212 |
257 |
1.21e-13 |
SMART |
coiled coil region
|
291 |
330 |
N/A |
INTRINSIC |
PDB:4OLE|D
|
368 |
486 |
2e-77 |
PDB |
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
coiled coil region
|
677 |
707 |
N/A |
INTRINSIC |
PDB:2MJ5|B
|
898 |
944 |
2e-24 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107218
AA Change: N239S
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000102836 Gene: ENSMUSG00000017119 AA Change: N239S
Domain | Start | End | E-Value | Type |
PB1
|
4 |
86 |
7.02e-16 |
SMART |
ZnF_ZZ
|
212 |
257 |
1.21e-13 |
SMART |
coiled coil region
|
291 |
330 |
N/A |
INTRINSIC |
PDB:4OLE|D
|
368 |
486 |
5e-77 |
PDB |
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
coiled coil region
|
714 |
744 |
N/A |
INTRINSIC |
PDB:2MJ5|B
|
935 |
981 |
2e-24 |
PDB |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123558
AA Change: N239S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000133619 Gene: ENSMUSG00000017119 AA Change: N239S
Domain | Start | End | E-Value | Type |
PB1
|
4 |
86 |
7.02e-16 |
SMART |
ZnF_ZZ
|
212 |
257 |
1.21e-13 |
SMART |
coiled coil region
|
291 |
330 |
N/A |
INTRINSIC |
PDB:4OLE|D
|
368 |
486 |
2e-77 |
PDB |
low complexity region
|
507 |
518 |
N/A |
INTRINSIC |
coiled coil region
|
714 |
744 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000149019
|
SMART Domains |
Protein: ENSMUSP00000119900 Gene: ENSMUSG00000017119
Domain | Start | End | E-Value | Type |
coiled coil region
|
50 |
89 |
N/A |
INTRINSIC |
Pfam:N_BRCA1_IG
|
138 |
239 |
2.3e-34 |
PFAM |
low complexity region
|
267 |
278 |
N/A |
INTRINSIC |
coiled coil region
|
473 |
500 |
N/A |
INTRINSIC |
PDB:2MJ5|B
|
659 |
705 |
1e-24 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000149019
|
SMART Domains |
Protein: ENSMUSP00000119900 Gene: ENSMUSG00000017119
Domain | Start | End | E-Value | Type |
coiled coil region
|
50 |
89 |
N/A |
INTRINSIC |
Pfam:N_BRCA1_IG
|
138 |
239 |
2.3e-34 |
PFAM |
low complexity region
|
267 |
278 |
N/A |
INTRINSIC |
coiled coil region
|
473 |
500 |
N/A |
INTRINSIC |
PDB:2MJ5|B
|
659 |
705 |
1e-24 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000149019
|
SMART Domains |
Protein: ENSMUSP00000119900 Gene: ENSMUSG00000017119
Domain | Start | End | E-Value | Type |
coiled coil region
|
50 |
89 |
N/A |
INTRINSIC |
Pfam:N_BRCA1_IG
|
138 |
239 |
2.3e-34 |
PFAM |
low complexity region
|
267 |
278 |
N/A |
INTRINSIC |
coiled coil region
|
473 |
500 |
N/A |
INTRINSIC |
PDB:2MJ5|B
|
659 |
705 |
1e-24 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000149019
|
SMART Domains |
Protein: ENSMUSP00000119900 Gene: ENSMUSG00000017119
Domain | Start | End | E-Value | Type |
coiled coil region
|
50 |
89 |
N/A |
INTRINSIC |
Pfam:N_BRCA1_IG
|
138 |
239 |
2.3e-34 |
PFAM |
low complexity region
|
267 |
278 |
N/A |
INTRINSIC |
coiled coil region
|
473 |
500 |
N/A |
INTRINSIC |
PDB:2MJ5|B
|
659 |
705 |
1e-24 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174013
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146452
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127871
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144517
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149170
|
Meta Mutation Damage Score |
0.6611 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
Validation Efficiency |
100% (53/53) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was originally identified as an ovarian tumor antigen monitored in ovarian cancer. The encoded protein contains a B-box/coiled-coil motif, which is present in many genes with transformation potential. It functions as a specific autophagy receptor for the selective autophagic degradation of peroxisomes by forming intracellular inclusions with ubiquitylated autophagic substrates. This gene is located on a region of chromosome 17q21.1 that is in close proximity to the BRCA1 tumor suppressor gene. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014] PHENOTYPE: Homozygous mice of the genetic truncation allele had an age-dependent increase in bone mass and bone mineral density. Mice homozygous for a floxed allele activated in T cells exhibit decreased ovalbumin-induced inflammation and defective Th2 polarization. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
C |
T |
7: 27,265,138 (GRCm39) |
R97* |
probably null |
Het |
4930544D05Rik |
G |
A |
11: 70,507,317 (GRCm39) |
A121T |
probably damaging |
Het |
Abtb2 |
A |
T |
2: 103,532,655 (GRCm39) |
E484D |
probably benign |
Het |
Ankk1 |
A |
T |
9: 49,338,183 (GRCm39) |
W37R |
possibly damaging |
Het |
Arhgap11a |
C |
A |
2: 113,664,695 (GRCm39) |
M529I |
probably benign |
Het |
Btd |
G |
A |
14: 31,363,065 (GRCm39) |
|
probably benign |
Het |
Ddx47 |
T |
C |
6: 135,000,318 (GRCm39) |
I438T |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,358,647 (GRCm39) |
T3379A |
probably benign |
Het |
Dusp3 |
A |
G |
11: 101,871,495 (GRCm39) |
|
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,594,440 (GRCm39) |
K1289E |
possibly damaging |
Het |
Egf |
A |
T |
3: 129,530,421 (GRCm39) |
I247N |
probably benign |
Het |
Erich1 |
A |
G |
8: 14,083,692 (GRCm39) |
L126P |
probably benign |
Het |
Fat3 |
T |
A |
9: 16,287,864 (GRCm39) |
H553L |
possibly damaging |
Het |
Gdpgp1 |
T |
C |
7: 79,888,740 (GRCm39) |
L257P |
probably damaging |
Het |
Gimap8 |
T |
C |
6: 48,635,888 (GRCm39) |
I551T |
possibly damaging |
Het |
Gnptab |
C |
A |
10: 88,267,257 (GRCm39) |
D449E |
probably damaging |
Het |
Grb10 |
T |
C |
11: 11,883,551 (GRCm39) |
D513G |
probably damaging |
Het |
Grin1 |
T |
G |
2: 25,195,170 (GRCm39) |
D283A |
probably damaging |
Het |
Gtf2i |
A |
T |
5: 134,315,911 (GRCm39) |
|
probably null |
Het |
Ip6k3 |
A |
G |
17: 27,367,599 (GRCm39) |
V199A |
possibly damaging |
Het |
Kif17 |
T |
A |
4: 138,015,643 (GRCm39) |
Y405* |
probably null |
Het |
Lair1 |
T |
C |
7: 4,031,895 (GRCm39) |
M71V |
probably benign |
Het |
Mamdc2 |
G |
A |
19: 23,330,679 (GRCm39) |
T376M |
probably damaging |
Het |
Msra |
G |
A |
14: 64,678,183 (GRCm39) |
R38C |
probably damaging |
Het |
Mthfd1 |
A |
T |
12: 76,350,447 (GRCm39) |
I462F |
probably damaging |
Het |
Neb |
A |
G |
2: 52,110,943 (GRCm39) |
M181T |
probably benign |
Het |
Noxo1 |
A |
G |
17: 24,915,545 (GRCm39) |
|
probably benign |
Het |
Optn |
C |
A |
2: 5,026,134 (GRCm39) |
|
probably null |
Het |
Or10ag58 |
A |
T |
2: 87,265,733 (GRCm39) |
K301* |
probably null |
Het |
Or4c103 |
A |
G |
2: 88,513,935 (GRCm39) |
I47T |
probably damaging |
Het |
Or5k17 |
A |
T |
16: 58,746,895 (GRCm39) |
I13N |
possibly damaging |
Het |
Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,727,033 (GRCm39) |
|
probably benign |
Het |
Ppp1r16b |
A |
G |
2: 158,593,047 (GRCm39) |
I209V |
probably benign |
Het |
Prss12 |
A |
G |
3: 123,283,258 (GRCm39) |
I517V |
possibly damaging |
Het |
Pwwp3a |
A |
G |
10: 80,064,865 (GRCm39) |
K32E |
probably benign |
Het |
Ripor2 |
C |
T |
13: 24,798,627 (GRCm39) |
|
probably benign |
Het |
Rmnd5b |
A |
G |
11: 51,516,536 (GRCm39) |
S274P |
probably benign |
Het |
Sftpa1 |
T |
A |
14: 40,854,509 (GRCm39) |
I32N |
probably damaging |
Het |
Slc2a12 |
T |
A |
10: 22,541,246 (GRCm39) |
I367N |
probably damaging |
Het |
Sorcs1 |
T |
C |
19: 50,276,532 (GRCm39) |
D340G |
probably damaging |
Het |
Synj1 |
T |
C |
16: 90,735,877 (GRCm39) |
K1359E |
probably benign |
Het |
Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
Tcf12 |
T |
A |
9: 71,775,547 (GRCm39) |
E421V |
probably damaging |
Het |
Tecta |
A |
T |
9: 42,284,371 (GRCm39) |
F905I |
probably benign |
Het |
Tmem106a |
T |
A |
11: 101,474,576 (GRCm39) |
C58* |
probably null |
Het |
Tmem131l |
A |
T |
3: 83,805,689 (GRCm39) |
F1585I |
probably damaging |
Het |
Tnks2 |
T |
C |
19: 36,856,752 (GRCm39) |
S208P |
possibly damaging |
Het |
Trim50 |
A |
G |
5: 135,382,274 (GRCm39) |
N42S |
probably benign |
Het |
Tsc22d2 |
T |
A |
3: 58,367,674 (GRCm39) |
|
probably benign |
Het |
Ttll3 |
T |
A |
6: 113,371,702 (GRCm39) |
L23H |
probably damaging |
Het |
Vmn1r10 |
A |
G |
6: 57,091,218 (GRCm39) |
Y270C |
probably benign |
Het |
Ypel3 |
T |
C |
7: 126,377,537 (GRCm39) |
V74A |
possibly damaging |
Het |
Zfp677 |
A |
G |
17: 21,618,070 (GRCm39) |
T376A |
possibly damaging |
Het |
|
Other mutations in Nbr1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02187:Nbr1
|
APN |
11 |
101,460,185 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02192:Nbr1
|
APN |
11 |
101,460,417 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02259:Nbr1
|
APN |
11 |
101,468,816 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02951:Nbr1
|
APN |
11 |
101,462,805 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02994:Nbr1
|
APN |
11 |
101,447,053 (GRCm39) |
missense |
probably damaging |
1.00 |
R0087:Nbr1
|
UTSW |
11 |
101,455,519 (GRCm39) |
missense |
probably benign |
0.16 |
R0630:Nbr1
|
UTSW |
11 |
101,457,913 (GRCm39) |
unclassified |
probably benign |
|
R0723:Nbr1
|
UTSW |
11 |
101,467,145 (GRCm39) |
nonsense |
probably null |
|
R0733:Nbr1
|
UTSW |
11 |
101,467,197 (GRCm39) |
missense |
probably benign |
0.00 |
R1482:Nbr1
|
UTSW |
11 |
101,463,667 (GRCm39) |
missense |
probably benign |
0.34 |
R1567:Nbr1
|
UTSW |
11 |
101,466,037 (GRCm39) |
missense |
probably damaging |
0.98 |
R1570:Nbr1
|
UTSW |
11 |
101,455,656 (GRCm39) |
unclassified |
probably benign |
|
R1668:Nbr1
|
UTSW |
11 |
101,460,592 (GRCm39) |
missense |
probably benign |
0.00 |
R1759:Nbr1
|
UTSW |
11 |
101,450,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R1903:Nbr1
|
UTSW |
11 |
101,465,978 (GRCm39) |
missense |
probably damaging |
0.98 |
R1927:Nbr1
|
UTSW |
11 |
101,458,040 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2131:Nbr1
|
UTSW |
11 |
101,457,017 (GRCm39) |
splice site |
probably null |
|
R2211:Nbr1
|
UTSW |
11 |
101,458,090 (GRCm39) |
critical splice donor site |
probably null |
|
R2255:Nbr1
|
UTSW |
11 |
101,463,643 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4270:Nbr1
|
UTSW |
11 |
101,458,048 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4271:Nbr1
|
UTSW |
11 |
101,458,048 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4710:Nbr1
|
UTSW |
11 |
101,466,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R4947:Nbr1
|
UTSW |
11 |
101,465,903 (GRCm39) |
missense |
probably benign |
0.06 |
R5468:Nbr1
|
UTSW |
11 |
101,463,290 (GRCm39) |
missense |
probably benign |
0.10 |
R5554:Nbr1
|
UTSW |
11 |
101,455,633 (GRCm39) |
missense |
probably benign |
0.34 |
R5771:Nbr1
|
UTSW |
11 |
101,450,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R6400:Nbr1
|
UTSW |
11 |
101,456,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R6603:Nbr1
|
UTSW |
11 |
101,446,931 (GRCm39) |
unclassified |
probably benign |
|
R6943:Nbr1
|
UTSW |
11 |
101,468,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R7347:Nbr1
|
UTSW |
11 |
101,460,147 (GRCm39) |
nonsense |
probably null |
|
R7472:Nbr1
|
UTSW |
11 |
101,462,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R7501:Nbr1
|
UTSW |
11 |
101,457,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R7709:Nbr1
|
UTSW |
11 |
101,447,067 (GRCm39) |
missense |
probably damaging |
1.00 |
R7744:Nbr1
|
UTSW |
11 |
101,460,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R7795:Nbr1
|
UTSW |
11 |
101,460,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R8865:Nbr1
|
UTSW |
11 |
101,455,520 (GRCm39) |
missense |
probably benign |
0.00 |
R9377:Nbr1
|
UTSW |
11 |
101,456,590 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9615:Nbr1
|
UTSW |
11 |
101,465,978 (GRCm39) |
missense |
probably benign |
0.02 |
R9667:Nbr1
|
UTSW |
11 |
101,451,261 (GRCm39) |
missense |
possibly damaging |
0.68 |
R9801:Nbr1
|
UTSW |
11 |
101,447,025 (GRCm39) |
missense |
probably damaging |
0.99 |
X0019:Nbr1
|
UTSW |
11 |
101,457,950 (GRCm39) |
missense |
possibly damaging |
0.50 |
Z1176:Nbr1
|
UTSW |
11 |
101,463,380 (GRCm39) |
missense |
probably benign |
0.04 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTGGCAATTGAAAGTTACCATCC -3'
(R):5'- TCAGCAGAGTCAAGAAGCC -3'
Sequencing Primer
(F):5'- TTGAAAGTTACCATCCAGGGCTG -3'
(R):5'- TCAAGAAGCCAAATAAATGAGCAGC -3'
|
Posted On |
2017-08-16 |