Incidental Mutation 'R0087:Nbr1'
ID |
19971 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nbr1
|
Ensembl Gene |
ENSMUSG00000017119 |
Gene Name |
NBR1, autophagy cargo receptor |
Synonyms |
|
MMRRC Submission |
038374-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0087 (G1)
|
Quality Score |
196 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
101442975-101472777 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 101455519 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 91
(D91A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102836
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071537]
[ENSMUST00000103098]
[ENSMUST00000103099]
[ENSMUST00000107208]
[ENSMUST00000107212]
[ENSMUST00000107213]
[ENSMUST00000123558]
[ENSMUST00000107218]
|
AlphaFold |
P97432 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000071537
AA Change: D91A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000071467 Gene: ENSMUSG00000017119 AA Change: D91A
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 benign
Transcript: ENSMUST00000103098
AA Change: D91A
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000099387 Gene: ENSMUSG00000017119 AA Change: D91A
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 benign
Transcript: ENSMUST00000103099
AA Change: D91A
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000099388 Gene: ENSMUSG00000017119 AA Change: D91A
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 benign
Transcript: ENSMUST00000107208
AA Change: D91A
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000102826 Gene: ENSMUSG00000017119 AA Change: D91A
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 |
probably benign
Transcript: ENSMUST00000107212
AA Change: D91A
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000102830 Gene: ENSMUSG00000017119 AA Change: D91A
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: D91A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000102831 Gene: ENSMUSG00000017119 AA Change: D91A
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 benign
Transcript: ENSMUST00000123558
AA Change: D91A
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000133619 Gene: ENSMUSG00000017119 AA Change: D91A
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 benign
Transcript: ENSMUST00000107218
AA Change: D91A
PolyPhen 2
Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000102836 Gene: ENSMUSG00000017119 AA Change: D91A
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 |
noncoding transcript
Transcript: ENSMUST00000146452
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149170
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174013
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127871
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144517
|
Predicted Effect |
probably benign
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 |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 93.5%
- 20x: 82.3%
|
Validation Efficiency |
86% (59/69) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add3 |
T |
A |
19: 53,215,038 (GRCm39) |
L71Q |
probably damaging |
Het |
Adgrv1 |
T |
A |
13: 81,535,070 (GRCm39) |
I5732F |
probably damaging |
Het |
Adss2 |
A |
T |
1: 177,598,788 (GRCm39) |
V330E |
probably benign |
Het |
Agps |
T |
A |
2: 75,739,979 (GRCm39) |
Y488N |
probably damaging |
Het |
Ap3s1 |
A |
T |
18: 46,891,106 (GRCm39) |
R66S |
probably damaging |
Het |
Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
Atp2a2 |
C |
T |
5: 122,599,024 (GRCm39) |
V593I |
probably benign |
Het |
Chrna6 |
C |
T |
8: 27,897,014 (GRCm39) |
V288M |
probably damaging |
Het |
Col4a2 |
C |
T |
8: 11,491,296 (GRCm39) |
L1232F |
probably benign |
Het |
Dcaf1 |
A |
G |
9: 106,740,288 (GRCm39) |
N1225D |
probably damaging |
Het |
Degs1 |
A |
G |
1: 182,106,875 (GRCm39) |
I128T |
probably benign |
Het |
Dnaaf11 |
T |
C |
15: 66,341,824 (GRCm39) |
T91A |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,350,759 (GRCm39) |
T2594S |
probably damaging |
Het |
Dnah8 |
G |
T |
17: 30,974,093 (GRCm39) |
R2826L |
probably damaging |
Het |
Elf3 |
A |
G |
1: 135,184,875 (GRCm39) |
Y104H |
probably damaging |
Het |
Fam222b |
C |
A |
11: 78,044,718 (GRCm39) |
T93N |
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,554,006 (GRCm39) |
I211T |
probably benign |
Het |
Fcho2 |
T |
C |
13: 98,871,594 (GRCm39) |
T541A |
probably benign |
Het |
Flg2 |
T |
C |
3: 93,109,738 (GRCm39) |
S589P |
unknown |
Het |
Foxj3 |
T |
A |
4: 119,483,597 (GRCm39) |
V589E |
unknown |
Het |
Gria1 |
A |
G |
11: 57,208,538 (GRCm39) |
Y742C |
probably damaging |
Het |
Inpp5d |
T |
C |
1: 87,642,860 (GRCm39) |
S672P |
probably damaging |
Het |
Lrrc19 |
A |
C |
4: 94,529,009 (GRCm39) |
F91C |
probably damaging |
Het |
Mppe1 |
A |
G |
18: 67,358,775 (GRCm39) |
*398R |
probably null |
Het |
Mroh3 |
T |
C |
1: 136,118,541 (GRCm39) |
I561V |
probably benign |
Het |
Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
Nbea |
G |
T |
3: 55,998,444 (GRCm39) |
T121K |
possibly damaging |
Het |
Ncam2 |
C |
A |
16: 81,231,789 (GRCm39) |
N84K |
probably benign |
Het |
Or4c35 |
T |
C |
2: 89,808,475 (GRCm39) |
Y118H |
probably damaging |
Het |
Or51ac3 |
A |
T |
7: 103,213,569 (GRCm39) |
C306S |
probably benign |
Het |
Or52h9 |
A |
G |
7: 104,202,869 (GRCm39) |
I248V |
possibly damaging |
Het |
Or52z13 |
A |
G |
7: 103,246,928 (GRCm39) |
Y135C |
probably benign |
Het |
Or6b6 |
A |
G |
7: 106,571,323 (GRCm39) |
V76A |
probably benign |
Het |
Pdgfrb |
A |
T |
18: 61,194,585 (GRCm39) |
I121F |
probably damaging |
Het |
Peak1 |
A |
T |
9: 56,165,609 (GRCm39) |
I773N |
probably damaging |
Het |
Pfkfb4 |
G |
T |
9: 108,836,769 (GRCm39) |
V155F |
probably damaging |
Het |
Pkm |
C |
T |
9: 59,585,382 (GRCm39) |
R455* |
probably null |
Het |
Plbd2 |
C |
A |
5: 120,632,550 (GRCm39) |
E151* |
probably null |
Het |
Pld5 |
G |
A |
1: 175,812,025 (GRCm39) |
T353M |
probably damaging |
Het |
Psme2b |
A |
T |
11: 48,836,544 (GRCm39) |
D134E |
possibly damaging |
Het |
Rida |
T |
A |
15: 34,488,772 (GRCm39) |
D40V |
possibly damaging |
Het |
Rnf126 |
A |
T |
10: 79,595,068 (GRCm39) |
H265Q |
probably damaging |
Het |
Rock2 |
C |
A |
12: 16,978,967 (GRCm39) |
Q86K |
probably benign |
Het |
Serpinb1b |
A |
T |
13: 33,269,302 (GRCm39) |
T12S |
probably benign |
Het |
Slco6c1 |
T |
A |
1: 97,046,303 (GRCm39) |
Q277L |
probably benign |
Het |
Spmap2 |
A |
T |
10: 79,421,785 (GRCm39) |
Y144* |
probably null |
Het |
Sptlc2 |
T |
A |
12: 87,415,892 (GRCm39) |
H45L |
probably benign |
Het |
Srsf4 |
A |
G |
4: 131,627,641 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
G |
6: 48,454,719 (GRCm39) |
S2969G |
probably damaging |
Het |
Steap1 |
C |
T |
5: 5,786,664 (GRCm39) |
G258R |
probably damaging |
Het |
Stk19 |
A |
T |
17: 35,055,851 (GRCm39) |
M1K |
probably null |
Het |
Stk-ps2 |
C |
A |
1: 46,069,049 (GRCm39) |
|
noncoding transcript |
Het |
Taf1c |
C |
T |
8: 120,327,726 (GRCm39) |
R332H |
probably damaging |
Het |
Thbs4 |
T |
A |
13: 92,891,743 (GRCm39) |
T791S |
probably damaging |
Het |
Tjap1 |
A |
G |
17: 46,574,652 (GRCm39) |
L21P |
probably damaging |
Het |
Tmem145 |
A |
G |
7: 25,007,268 (GRCm39) |
Y148C |
probably damaging |
Het |
Tmem267 |
T |
A |
13: 120,070,810 (GRCm39) |
V155E |
probably benign |
Het |
Tns1 |
T |
A |
1: 73,956,076 (GRCm39) |
H549L |
possibly damaging |
Het |
Tyro3 |
T |
G |
2: 119,632,182 (GRCm39) |
I83S |
probably benign |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Vmn1r53 |
A |
T |
6: 90,200,413 (GRCm39) |
C304S |
probably benign |
Het |
Vwf |
G |
A |
6: 125,622,917 (GRCm39) |
M1761I |
probably benign |
Het |
Zfp276 |
T |
C |
8: 123,991,786 (GRCm39) |
Y445H |
probably damaging |
Het |
Zfp407 |
A |
T |
18: 84,578,536 (GRCm39) |
I859N |
probably 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 |
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 |
R6119:Nbr1
|
UTSW |
11 |
101,457,938 (GRCm39) |
splice site |
probably null |
|
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'- GTGGCATCACGTCAGTACCTCAAA -3'
(R):5'- CAGATAGGCCCATCCTCTTCATACCTC -3'
Sequencing Primer
(F):5'- gcatccgaagaccgctac -3'
(R):5'- ATACCTCTGGTGCAGGCTC -3'
|
Posted On |
2013-04-11 |