Mutagenetix > Incidental Mutation

Incidental Mutation 'R9667:Nbr1'

727876

Institutional Source

Beutler Lab

Gene Symbol

Nbr1

Ensembl Gene

ENSMUSG00000017119

Gene Name

NBR1, autophagy cargo receptor

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9667 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101442975-101472777 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101451261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 56 (I56M)

Ref Sequence

ENSEMBL: ENSMUSP00000099388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071537] [ENSMUST00000103098] [ENSMUST00000103099] [ENSMUST00000107208] [ENSMUST00000107212] [ENSMUST00000107213] [ENSMUST00000107218] [ENSMUST00000123558] [ENSMUST00000127421] [ENSMUST00000136185] [ENSMUST00000147239]

AlphaFold

P97432

Predicted Effect

probably benign
Transcript: ENSMUST00000071537

SMART Domains

Protein: ENSMUSP00000071467
Gene: ENSMUSG00000017119

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

possibly damaging
Transcript: ENSMUST00000103098
AA Change: I56M

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099387
Gene: ENSMUSG00000017119
AA Change: I56M

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: ENSMUST00000103099
AA Change: I56M

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099388
Gene: ENSMUSG00000017119
AA Change: I56M

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: I56M

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102826
Gene: ENSMUSG00000017119
AA Change: I56M

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: I56M

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102830
Gene: ENSMUSG00000017119
AA Change: I56M

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

possibly damaging
Transcript: ENSMUST00000107213
AA Change: I56M

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102831
Gene: ENSMUSG00000017119
AA Change: I56M

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

possibly damaging
Transcript: ENSMUST00000107218
AA Change: I56M

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102836
Gene: ENSMUSG00000017119
AA Change: I56M

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: I56M

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133619
Gene: ENSMUSG00000017119
AA Change: I56M

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: ENSMUST00000127421

Predicted Effect

probably benign
Transcript: ENSMUST00000136185

Predicted Effect

probably benign
Transcript: ENSMUST00000147239

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	G	A	9: 55,890,645 (GRCm39)	Q355*	probably null	Het
Aacs	A	T	5: 125,580,691 (GRCm39)	N255I	possibly damaging	Het
Abcf2	A	G	5: 24,779,185 (GRCm39)	L121P	probably damaging	Het
Amigo1	A	G	3: 108,095,034 (GRCm39)	I178V	probably benign	Het
Ankrd13a	T	A	5: 114,933,793 (GRCm39)	N262K	probably damaging	Het
Apba2	A	G	7: 64,345,062 (GRCm39)	E84G	possibly damaging	Het
Arhgap35	A	T	7: 16,296,914 (GRCm39)	L717*	probably null	Het
Aspa	A	T	11: 73,199,625 (GRCm39)	C217*	probably null	Het
Atp5mc3	A	G	2: 73,739,567 (GRCm39)	I91T	probably damaging	Het
Birc6	T	C	17: 75,004,420 (GRCm39)	M4763T	possibly damaging	Het
Cc2d2b	A	G	19: 40,753,927 (GRCm39)	Y150C	unknown	Het
Ccdc180	C	T	4: 45,920,861 (GRCm39)	Q936*	probably null	Het
Cdc42bpg	A	G	19: 6,370,115 (GRCm39)	E1103G	probably benign	Het
Cdca2	T	C	14: 67,915,003 (GRCm39)	Q752R	probably benign	Het
Ces1b	A	T	8: 93,791,637 (GRCm39)	S321T	probably benign	Het
Cfap70	A	T	14: 20,490,690 (GRCm39)		probably null	Het
Cpox	C	T	16: 58,490,984 (GRCm39)	T65I	possibly damaging	Het
Crocc	C	T	4: 140,748,988 (GRCm39)	E1606K	probably damaging	Het
Cryzl2	T	G	1: 157,316,038 (GRCm39)	M337R	probably benign	Het
Cyp4a29	C	A	4: 115,111,630 (GRCm39)	A469D	probably damaging	Het
Dnaaf1	T	A	8: 120,306,043 (GRCm39)	Y107N	possibly damaging	Het
Dpp6	T	A	5: 27,930,604 (GRCm39)	I812N	probably damaging	Het
Elovl5	A	G	9: 77,889,947 (GRCm39)	T253A	possibly damaging	Het
Fancd2	T	A	6: 113,530,717 (GRCm39)	L450*	probably null	Het
Fbxo31	C	T	8: 122,305,208 (GRCm39)	R96H	probably damaging	Het
Gls	A	T	1: 52,230,036 (GRCm39)		probably null	Het
Gm3045	G	A	13: 56,577,253 (GRCm39)	E134K	possibly damaging	Het
Gpr158	A	G	2: 21,830,054 (GRCm39)	I700V	probably damaging	Het
H2-Aa	T	C	17: 34,502,295 (GRCm39)	I209V	probably benign	Het
Ifnar2	A	G	16: 91,184,984 (GRCm39)	D125G	probably benign	Het
Igsf8	C	A	1: 172,145,319 (GRCm39)	D278E	possibly damaging	Het
Inpp5d	T	C	1: 87,623,128 (GRCm39)	I407T	probably damaging	Het
Iqcd	A	G	5: 120,744,737 (GRCm39)	E355G	probably damaging	Het
Klra2	T	A	6: 131,219,836 (GRCm39)	D115V	probably benign	Het
Kmt2b	T	C	7: 30,287,784 (GRCm39)	E120G	unknown	Het
Lhx6	A	G	2: 35,980,979 (GRCm39)	I321T	possibly damaging	Het
Lmna	CAGCACGGTGCGTGAGC	CAGC	3: 88,389,857 (GRCm39)		probably null	Het
Lztr1	T	C	16: 17,327,000 (GRCm39)	Y37H	probably damaging	Het
Malrd1	A	T	2: 15,570,026 (GRCm39)		probably null	Het
Mtmr3	C	T	11: 4,470,890 (GRCm39)	V79I	probably damaging	Het
Ncor2	C	T	5: 125,125,545 (GRCm39)	A580T	unknown	Het
Ndst3	A	G	3: 123,353,866 (GRCm39)	I601T	possibly damaging	Het
Nectin4	C	A	1: 171,210,165 (GRCm39)	P219Q	probably damaging	Het
Nfatc4	T	C	14: 56,066,964 (GRCm39)	V501A	probably benign	Het
Nisch	T	C	14: 30,895,646 (GRCm39)	T1015A	probably damaging	Het
Nr2c1	T	C	10: 94,017,479 (GRCm39)		probably null	Het
Nrg2	T	C	18: 36,165,430 (GRCm39)	E394G	probably benign	Het
Oas1e	A	G	5: 120,932,347 (GRCm39)	F99L	probably benign	Het
Oaz3	A	T	3: 94,341,835 (GRCm39)	Y178*	probably null	Het
Or1e35	A	G	11: 73,798,097 (GRCm39)	S74P	possibly damaging	Het
Or6c69b	A	C	10: 129,627,022 (GRCm39)	S145R	probably damaging	Het
Pcdhb20	C	T	18: 37,637,839 (GRCm39)	H122Y	probably benign	Het
Pdcd2	T	A	17: 15,747,535 (GRCm39)	M1L	probably damaging	Het
Phf11	T	C	14: 59,482,240 (GRCm39)	N171S	probably benign	Het
Plcd1	C	A	9: 118,901,698 (GRCm39)	G609W	probably damaging	Het
Plscr3	T	C	11: 69,738,631 (GRCm39)	F98L	probably benign	Het
Ppp1r8	T	C	4: 132,570,407 (GRCm39)	N6S	probably benign	Het
Prpf38b	G	A	3: 108,818,859 (GRCm39)		probably benign	Het
Rin2	T	A	2: 145,702,202 (GRCm39)	N299K	possibly damaging	Het
Serpina1d	T	G	12: 103,734,299 (GRCm39)	T2P	probably benign	Het
Slc22a16	A	G	10: 40,461,125 (GRCm39)	D330G	probably benign	Het
Slit1	G	A	19: 41,731,832 (GRCm39)	Q6*	probably null	Het
Spaca7b	T	A	8: 11,705,681 (GRCm39)	E142V	probably benign	Het
Spag9	T	C	11: 93,887,119 (GRCm39)	V8A	possibly damaging	Het
Spsb3	C	T	17: 25,105,784 (GRCm39)	T44I	unknown	Het
Srrt	T	C	5: 137,295,732 (GRCm39)	Y563C	probably damaging	Het
Syne2	A	G	12: 75,926,951 (GRCm39)	D69G	probably damaging	Het
Tcf12	A	G	9: 71,792,443 (GRCm39)	V80A	probably benign	Het
Tdpoz3	G	A	3: 93,733,336 (GRCm39)	D4N	possibly damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tmem132d	G	A	5: 128,061,375 (GRCm39)	T409I	possibly damaging	Het
Tmem245	G	T	4: 56,947,119 (GRCm39)	T98K	probably damaging	Het
Tmem70	A	C	1: 16,735,659 (GRCm39)	E43A	probably benign	Het
Trim25	A	T	11: 88,907,188 (GRCm39)	I516F	probably damaging	Het
Trim3	G	A	7: 105,267,455 (GRCm39)	S308L	possibly damaging	Het
Ttll9	C	T	2: 152,831,989 (GRCm39)	R189*	probably null	Het
Ttpal	T	C	2: 163,449,596 (GRCm39)		probably null	Het
Ubl4b	A	T	3: 107,461,911 (GRCm39)	H116Q	probably benign	Het
Unc80	C	A	1: 66,651,287 (GRCm39)	T1544K	possibly damaging	Het
Usp2	T	C	9: 44,003,487 (GRCm39)		probably null	Het
Usp25	T	C	16: 76,874,123 (GRCm39)		probably null	Het
Vmn1r167	C	T	7: 23,204,990 (GRCm39)	V9I	probably benign	Het
Vmn2r87	A	G	10: 130,314,776 (GRCm39)	I270T	probably damaging	Het
Vps35l	G	A	7: 118,348,915 (GRCm39)		probably null	Het
Wdr24	A	G	17: 26,046,301 (GRCm39)	D515G	possibly damaging	Het
Wdr81	T	C	11: 75,341,650 (GRCm39)	T87A		Het
Zcchc14	A	T	8: 122,331,863 (GRCm39)	L500Q	unknown	Het
Zzef1	A	G	11: 72,758,786 (GRCm39)	T1242A	probably benign	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
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
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'- CCTAGCCCTACACTATGCTACG -3'
(R):5'- CGTATGTTAGAGCAAAGCATGG -3'

Sequencing Primer
(F):5'- CACTATGCTACGTGTTAATACCAC -3'
(R):5'- GGTTTAAACGGAAACATCTCATCGG -3'

Posted On

2022-10-06