Mutagenetix > Incidental Mutation

Incidental Mutation 'R7347:Nbr1'

570301

Institutional Source

Beutler Lab

Gene Symbol

Nbr1

Ensembl Gene

ENSMUSG00000017119

Gene Name

NBR1, autophagy cargo receptor

Synonyms

MMRRC Submission

045374-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7347 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101442975-101472777 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 101460147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 381 (L381*)

Ref Sequence

ENSEMBL: ENSMUSP00000099388 (fasta)

Gene Model

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

AlphaFold

P97432

Predicted Effect

probably null
Transcript: ENSMUST00000071537
AA Change: L381*

SMART Domains

Protein: ENSMUSP00000071467
Gene: ENSMUSG00000017119
AA Change: L381*

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 null
Transcript: ENSMUST00000103098
AA Change: L381*

SMART Domains

Protein: ENSMUSP00000099387
Gene: ENSMUSG00000017119
AA Change: L381*

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 null
Transcript: ENSMUST00000103099
AA Change: L381*

SMART Domains

Protein: ENSMUSP00000099388
Gene: ENSMUSG00000017119
AA Change: L381*

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 null
Transcript: ENSMUST00000107208
AA Change: L381*

SMART Domains

Protein: ENSMUSP00000102826
Gene: ENSMUSG00000017119
AA Change: L381*

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 null
Transcript: ENSMUST00000107212
AA Change: L381*

SMART Domains

Protein: ENSMUSP00000102830
Gene: ENSMUSG00000017119
AA Change: L381*

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 null
Transcript: ENSMUST00000107213
AA Change: L381*

SMART Domains

Protein: ENSMUSP00000102831
Gene: ENSMUSG00000017119
AA Change: L381*

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 null
Transcript: ENSMUST00000107218
AA Change: L381*

SMART Domains

Protein: ENSMUSP00000102836
Gene: ENSMUSG00000017119
AA Change: L381*

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 null
Transcript: ENSMUST00000123558
AA Change: L381*

SMART Domains

Protein: ENSMUSP00000133619
Gene: ENSMUSG00000017119
AA Change: L381*

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
AA Change: L140*

SMART Domains

Protein: ENSMUSP00000119900
Gene: ENSMUSG00000017119
AA Change: L140*

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (80/80)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930564D02Rik	G	T	3: 104,985,728 (GRCm39)	R47S	unknown	Het
Abtb2	T	G	2: 103,397,757 (GRCm39)	I229S	probably damaging	Het
Adgre1	T	C	17: 57,727,441 (GRCm39)	L457P	probably damaging	Het
Amer3	C	A	1: 34,626,983 (GRCm39)	D407E	probably damaging	Het
Arhgap20	T	C	9: 51,760,335 (GRCm39)	S729P	probably benign	Het
Asap2	T	G	12: 21,279,458 (GRCm39)	I418S	probably benign	Het
Atp5mf	T	C	5: 145,125,295 (GRCm39)		probably null	Het
Brinp3	T	A	1: 146,777,824 (GRCm39)	V757E	probably benign	Het
Brip1	C	T	11: 86,029,929 (GRCm39)	G572R	probably benign	Het
C3	C	A	17: 57,530,215 (GRCm39)	R462L	probably benign	Het
Cat	T	A	2: 103,293,643 (GRCm39)	H395L	probably benign	Het
Ccdc168	G	T	1: 44,098,656 (GRCm39)	P814Q	probably damaging	Het
Cela3a	T	C	4: 137,129,917 (GRCm39)	N235D	possibly damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cntnap1	G	T	11: 101,076,094 (GRCm39)	G993W	probably damaging	Het
Col9a1	A	G	1: 24,218,484 (GRCm39)		probably null	Het
Coro2b	G	T	9: 62,396,654 (GRCm39)	H29N	probably benign	Het
Dll3	C	T	7: 27,998,536 (GRCm39)	R143H	probably damaging	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dync1i1	T	A	6: 5,784,530 (GRCm39)	*114R	probably null	Het
Ecm2	T	C	13: 49,668,554 (GRCm39)	S86P	probably damaging	Het
Eif5	T	C	12: 111,506,724 (GRCm39)		probably benign	Het
Ets1	T	A	9: 32,644,328 (GRCm39)		probably null	Het
Exph5	A	G	9: 53,287,196 (GRCm39)	N1426D	possibly damaging	Het
Eya2	T	C	2: 165,529,586 (GRCm39)	F110L	probably benign	Het
Flt1	T	A	5: 147,517,191 (GRCm39)	E1032V	probably damaging	Het
Galnt5	A	T	2: 57,907,205 (GRCm39)	H556L	probably benign	Het
Glb1l3	A	T	9: 26,740,299 (GRCm39)	Y344N	probably benign	Het
Glrx3	C	A	7: 137,061,015 (GRCm39)	D216E	possibly damaging	Het
Gm45871	T	A	18: 90,609,499 (GRCm39)	C246S	probably damaging	Het
Gstm4	A	G	3: 107,949,689 (GRCm39)	L137P	probably benign	Het
Hsd17b13	T	C	5: 104,116,616 (GRCm39)	T169A	probably damaging	Het
Hydin	A	C	8: 111,326,994 (GRCm39)	T4778P	probably benign	Het
Ifna15	A	G	4: 88,476,220 (GRCm39)	L88P	probably damaging	Het
Inhca	T	A	9: 103,159,845 (GRCm39)	E22V	possibly damaging	Het
Kcnab1	G	A	3: 65,283,952 (GRCm39)	R390H	probably benign	Het
Kng1	C	A	16: 22,886,537 (GRCm39)	H161N	possibly damaging	Het
Lamp5	T	C	2: 135,902,878 (GRCm39)	V199A	probably benign	Het
Lrig3	G	A	10: 125,845,835 (GRCm39)	V755M	probably damaging	Het
Mad1l1	C	T	5: 140,129,799 (GRCm39)	R412H	probably damaging	Het
Marchf6	C	A	15: 31,486,505 (GRCm39)	C350F	probably benign	Het
Mastl	A	G	2: 23,023,401 (GRCm39)	S441P	probably damaging	Het
Mfsd13b	A	T	7: 120,590,951 (GRCm39)	M231L	probably benign	Het
Mical2	T	C	7: 111,981,358 (GRCm39)	V444A	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo15a	A	G	11: 60,368,787 (GRCm39)	M516V	probably benign	Het
Myo1b	A	T	1: 51,790,413 (GRCm39)	F1110L	probably damaging	Het
Nln	T	C	13: 104,187,355 (GRCm39)	K325E	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Nrp2	C	T	1: 62,784,663 (GRCm39)	P271S	probably benign	Het
Obox6	A	C	7: 15,568,571 (GRCm39)	L102V	possibly damaging	Het
Or4a69	T	C	2: 89,312,799 (GRCm39)	S227G	probably benign	Het
Or4p8	T	C	2: 88,727,615 (GRCm39)	I109V	possibly damaging	Het
Or7g33	A	G	9: 19,448,395 (GRCm39)	M277T	probably damaging	Het
Or8k16	T	C	2: 85,520,181 (GRCm39)	M136T	probably damaging	Het
Pde10a	A	G	17: 9,186,294 (GRCm39)	H567R	probably damaging	Het
Pdgfra	C	T	5: 75,343,759 (GRCm39)	S760L	possibly damaging	Het
Pid1	T	A	1: 84,136,850 (GRCm39)	I94L	unknown	Het
Plekhn1	T	C	4: 156,307,128 (GRCm39)	H474R	probably benign	Het
Prcc	A	T	3: 87,776,988 (GRCm39)	S329T	possibly damaging	Het
Pros1	G	T	16: 62,739,886 (GRCm39)	R445L	probably damaging	Het
Pxdn	C	A	12: 30,062,260 (GRCm39)	H1370Q	probably benign	Het
Sgce	T	A	6: 4,694,106 (GRCm39)	R283S	probably damaging	Het
Slc25a20	T	G	9: 108,559,657 (GRCm39)		probably null	Het
Slc6a1	T	C	6: 114,288,779 (GRCm39)	V446A	probably damaging	Het
Slc6a4	C	G	11: 76,907,911 (GRCm39)	Y358*	probably null	Het
Sned1	A	C	1: 93,209,458 (GRCm39)	E857A	probably damaging	Het
Spata31e2	A	T	1: 26,723,548 (GRCm39)	L544Q	probably benign	Het
Spata31e3	T	C	13: 50,399,780 (GRCm39)	I849V	probably benign	Het
Spdye4b	C	T	5: 143,188,145 (GRCm39)	R213C	possibly damaging	Het
Spry2	T	G	14: 106,130,946 (GRCm39)	E80A	probably damaging	Het
Stard9	G	A	2: 120,497,015 (GRCm39)	C142Y	probably benign	Het
Sync	A	T	4: 129,188,099 (GRCm39)	Q377L	probably benign	Het
Tdrd12	A	G	7: 35,185,117 (GRCm39)	C718R		Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tmbim1	T	C	1: 74,330,438 (GRCm39)	E185G	probably benign	Het
Tyk2	T	C	9: 21,019,330 (GRCm39)	M1031V	probably damaging	Het
Vmn1r71	C	T	7: 10,482,428 (GRCm39)	V87I	not run	Het
Vmn2r49	A	G	7: 9,720,741 (GRCm39)	V250A	probably benign	Het
Yipf3	A	C	17: 46,561,753 (GRCm39)	T187P	probably damaging	Het
Zfp148	G	T	16: 33,255,160 (GRCm39)	R50L	possibly damaging	Het
Zfp628	G	A	7: 4,924,817 (GRCm39)	G1013E	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
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
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'- GGCAGCGTATCTTTGTTTTATGACC -3'
(R):5'- ACAGGAGGATGCTTGTCAGG -3'

Sequencing Primer
(F):5'- ACATGCTGGTGAGATCCATTC -3'
(R):5'- ATGCTTGTCAGGTGCGCC -3'

Posted On

2019-09-13