Mutagenetix > Incidental Mutation

Incidental Mutation 'R5250:Ubr2'

398993

Institutional Source

Beutler Lab

Gene Symbol

Ubr2

Ensembl Gene

ENSMUSG00000023977

Gene Name

ubiquitin protein ligase E3 component n-recognin 2

Synonyms

9930021A08Rik, E130209G04Rik, ENSMUSG00000043296

MMRRC Submission

042821-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.866) question?

Stock #

R5250 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46928295-47010556 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 46930442 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1729 (Q1729K)

Ref Sequence

ENSEMBL: ENSMUSP00000108963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113335] [ENSMUST00000113337]

AlphaFold

Q6WKZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000113335
AA Change: Q1729K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000108961
Gene: ENSMUSG00000023977
AA Change: Q1729K

Domain	Start	End	E-Value	Type
ZnF_UBR1	97	167	3.14e-32	SMART
Pfam:ClpS	221	302	2.4e-23	PFAM
low complexity region	635	646	N/A	INTRINSIC
low complexity region	749	760	N/A	INTRINSIC
low complexity region	872	886	N/A	INTRINSIC
coiled coil region	1019	1046	N/A	INTRINSIC
RING	1108	1213	7.66e-1	SMART
low complexity region	1221	1235	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113337
AA Change: Q1729K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000108963
Gene: ENSMUSG00000023977
AA Change: Q1729K

Domain	Start	End	E-Value	Type
ZnF_UBR1	97	167	3.14e-32	SMART
Pfam:ClpS	222	301	6.2e-26	PFAM
low complexity region	635	646	N/A	INTRINSIC
low complexity region	749	760	N/A	INTRINSIC
low complexity region	872	886	N/A	INTRINSIC
coiled coil region	1019	1046	N/A	INTRINSIC
RING	1108	1213	7.66e-1	SMART
low complexity region	1221	1235	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224442

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224759

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: On a mixed genetic background, female homozygotes for a targeted null mutation exhibit embryonic lethality, while males are viable, but sterile due to postnatal testicular degeneration. On an inbred background, both genders die in utero. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	G	2: 111,228,077 (GRCm38)	T124P	possibly damaging	Het
Adamtsl1	A	T	4: 86,216,945 (GRCm38)	K236*	probably null	Het
Adgre5	A	G	8: 83,733,440 (GRCm38)	V109A	probably benign	Het
Adora2a	T	C	10: 75,326,048 (GRCm38)	I7T	probably damaging	Het
Ankrd6	A	G	4: 32,860,335 (GRCm38)	V36A	probably damaging	Het
Arhgef2	T	C	3: 88,633,648 (GRCm38)		probably null	Het
Atg14	G	A	14: 47,568,199 (GRCm38)	R70C	probably damaging	Het
Atg2b	G	A	12: 105,635,765 (GRCm38)	R1651W	probably damaging	Het
Atp6v0a1	T	A	11: 101,043,044 (GRCm38)	V553D	possibly damaging	Het
Bard1	G	A	1: 71,074,563 (GRCm38)	L420F	probably damaging	Het
Bcat1	C	G	6: 145,047,439 (GRCm38)		probably null	Het
Bpifb5	A	T	2: 154,224,961 (GRCm38)	N45Y	probably benign	Het
Btbd17	G	T	11: 114,791,408 (GRCm38)		probably benign	Het
Ccdc24	T	C	4: 117,869,629 (GRCm38)	T296A	possibly damaging	Het
Col11a1	A	G	3: 114,217,170 (GRCm38)		probably benign	Het
Cspg4b	A	G	13: 113,319,771 (GRCm38)	N784D	possibly damaging	Het
Dhx38	A	T	8: 109,556,520 (GRCm38)	V555D	probably damaging	Het
Dixdc1	T	G	9: 50,683,735 (GRCm38)	E230A	possibly damaging	Het
Dnah7b	T	G	1: 46,373,354 (GRCm38)	V4041G	probably damaging	Het
Dnhd1	A	T	7: 105,685,761 (GRCm38)	I1021L	probably damaging	Het
Fgl2	A	G	5: 21,375,523 (GRCm38)	S288G	possibly damaging	Het
Flt4	T	A	11: 49,630,400 (GRCm38)	I412N	possibly damaging	Het
Gabrb1	A	G	5: 71,869,579 (GRCm38)	I141V	possibly damaging	Het
Gpc2	A	G	5: 138,278,968 (GRCm38)	Y66H	probably damaging	Het
Hoxd3	C	T	2: 74,744,306 (GRCm38)	Q99*	probably null	Het
Inpp5d	T	C	1: 87,709,675 (GRCm38)	V781A	probably damaging	Het
Larp4b	T	C	13: 9,170,977 (GRCm38)		probably benign	Het
Lrrfip1	T	A	1: 91,115,896 (GRCm38)	S674R	possibly damaging	Het
Megf6	A	G	4: 154,256,010 (GRCm38)	T561A	possibly damaging	Het
Mpo	A	T	11: 87,803,433 (GRCm38)	Q83L	probably benign	Het
Mucl2	T	C	15: 103,897,467 (GRCm38)	N75D	possibly damaging	Het
Myh13	C	T	11: 67,327,259 (GRCm38)	Q53*	probably null	Het
Myot	T	A	18: 44,346,070 (GRCm38)	D291E	probably damaging	Het
Nae1	A	G	8: 104,530,391 (GRCm38)		probably null	Het
Ncoa2	A	T	1: 13,224,689 (GRCm38)	S2R	probably damaging	Het
Nktr	T	A	9: 121,749,792 (GRCm38)		probably benign	Het
Nrxn1	A	G	17: 90,535,441 (GRCm38)		probably benign	Het
Or10aa3	T	G	1: 174,051,272 (GRCm38)	F300V	probably benign	Het
Or14j4	A	G	17: 37,609,960 (GRCm38)	S264P	probably damaging	Het
Or5an1b	T	C	19: 12,322,066 (GRCm38)	T254A	probably benign	Het
P2rx2	T	C	5: 110,341,588 (GRCm38)	E160G	probably damaging	Het
Pcdhga11	A	T	18: 37,757,937 (GRCm38)	D666V	probably damaging	Het
Pcm1	A	T	8: 41,312,205 (GRCm38)	E1484D	probably damaging	Het
Pdia4	C	T	6: 47,796,685 (GRCm38)	A577T	possibly damaging	Het
Ppm1e	T	C	11: 87,230,918 (GRCm38)	I738V	probably benign	Het
Ppp1r13b	G	T	12: 111,844,960 (GRCm38)	R165S	probably benign	Het
Rasgrp2	T	C	19: 6,404,313 (GRCm38)	W129R	probably damaging	Het
Smurf2	A	G	11: 106,856,179 (GRCm38)		probably null	Het
Spmap1	C	A	11: 97,772,727 (GRCm38)	W99L	possibly damaging	Het
Zfp260	T	A	7: 30,104,967 (GRCm38)	H97Q	probably damaging	Het
Zfp429	G	T	13: 67,390,519 (GRCm38)	R269S	probably benign	Het
Zfp568	T	C	7: 30,017,230 (GRCm38)	V185A	probably benign	Het

Other mutations in Ubr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Ubr2	APN	17	46,986,060 (GRCm38)	splice site	probably benign
IGL00332:Ubr2	APN	17	46,990,990 (GRCm38)	critical splice donor site	probably null
IGL00518:Ubr2	APN	17	46,992,996 (GRCm38)	missense	probably damaging	1.00
IGL00693:Ubr2	APN	17	46,972,981 (GRCm38)	missense	probably benign	0.01
IGL00785:Ubr2	APN	17	46,944,865 (GRCm38)	missense	possibly damaging	0.69
IGL01144:Ubr2	APN	17	46,957,321 (GRCm38)	missense	probably damaging	1.00
IGL01459:Ubr2	APN	17	46,930,509 (GRCm38)	splice site	probably benign
IGL01637:Ubr2	APN	17	46,956,654 (GRCm38)	missense	probably damaging	1.00
IGL01710:Ubr2	APN	17	46,943,409 (GRCm38)	missense	probably benign	0.00
IGL01726:Ubr2	APN	17	46,992,981 (GRCm38)	splice site	probably benign
IGL01925:Ubr2	APN	17	46,954,949 (GRCm38)	missense	possibly damaging	0.92
IGL01960:Ubr2	APN	17	46,973,967 (GRCm38)	missense	probably benign	0.45
IGL02170:Ubr2	APN	17	46,967,197 (GRCm38)	missense	probably benign	0.05
IGL02308:Ubr2	APN	17	46,934,193 (GRCm38)	missense	probably damaging	1.00
IGL02387:Ubr2	APN	17	46,963,150 (GRCm38)	missense	probably benign
IGL02696:Ubr2	APN	17	46,963,765 (GRCm38)	missense	probably benign
IGL02726:Ubr2	APN	17	46,972,921 (GRCm38)	missense	probably damaging	1.00
IGL02750:Ubr2	APN	17	46,969,282 (GRCm38)	missense	probably benign	0.00
IGL02934:Ubr2	APN	17	46,957,340 (GRCm38)	missense	possibly damaging	0.50
IGL02959:Ubr2	APN	17	46,975,951 (GRCm38)	missense	probably damaging	0.96
IGL03018:Ubr2	APN	17	46,954,046 (GRCm38)	missense	possibly damaging	0.64
IGL03343:Ubr2	APN	17	46,951,918 (GRCm38)	missense	probably benign	0.00
PIT4280001:Ubr2	UTSW	17	46,944,863 (GRCm38)	missense	probably damaging	1.00
R0044:Ubr2	UTSW	17	46,992,985 (GRCm38)	splice site	probably benign
R0044:Ubr2	UTSW	17	46,992,985 (GRCm38)	splice site	probably benign
R0446:Ubr2	UTSW	17	46,983,298 (GRCm38)	missense	probably damaging	1.00
R0513:Ubr2	UTSW	17	46,986,779 (GRCm38)	nonsense	probably null
R0565:Ubr2	UTSW	17	46,955,886 (GRCm38)	missense	probably damaging	1.00
R0600:Ubr2	UTSW	17	46,967,248 (GRCm38)	missense	probably damaging	0.99
R0690:Ubr2	UTSW	17	46,938,653 (GRCm38)	missense	probably damaging	0.97
R0710:Ubr2	UTSW	17	46,938,681 (GRCm38)	missense	probably damaging	0.96
R0761:Ubr2	UTSW	17	46,983,316 (GRCm38)	missense	probably damaging	1.00
R0798:Ubr2	UTSW	17	46,969,176 (GRCm38)	splice site	probably benign
R0862:Ubr2	UTSW	17	46,967,083 (GRCm38)	nonsense	probably null
R0947:Ubr2	UTSW	17	46,941,112 (GRCm38)	missense	probably damaging	0.99
R0972:Ubr2	UTSW	17	46,934,261 (GRCm38)	splice site	probably null
R1500:Ubr2	UTSW	17	46,986,689 (GRCm38)	missense	possibly damaging	0.79
R1514:Ubr2	UTSW	17	47,000,823 (GRCm38)	missense	probably damaging	1.00
R1533:Ubr2	UTSW	17	46,967,247 (GRCm38)	nonsense	probably null
R1554:Ubr2	UTSW	17	46,972,951 (GRCm38)	missense	probably benign
R1575:Ubr2	UTSW	17	46,932,492 (GRCm38)	missense	probably damaging	1.00
R1602:Ubr2	UTSW	17	46,941,061 (GRCm38)	missense	probably benign	0.30
R1941:Ubr2	UTSW	17	46,974,026 (GRCm38)	missense	probably damaging	1.00
R1966:Ubr2	UTSW	17	46,954,919 (GRCm38)	missense	probably benign	0.05
R2041:Ubr2	UTSW	17	46,986,047 (GRCm38)	missense	probably damaging	1.00
R2067:Ubr2	UTSW	17	46,963,145 (GRCm38)	critical splice donor site	probably null
R2111:Ubr2	UTSW	17	46,963,145 (GRCm38)	critical splice donor site	probably null
R2189:Ubr2	UTSW	17	46,943,364 (GRCm38)	missense	probably benign	0.01
R2219:Ubr2	UTSW	17	46,986,042 (GRCm38)	missense	possibly damaging	0.94
R2307:Ubr2	UTSW	17	46,966,215 (GRCm38)	nonsense	probably null
R3426:Ubr2	UTSW	17	46,968,439 (GRCm38)	missense	probably damaging	1.00
R3428:Ubr2	UTSW	17	46,968,439 (GRCm38)	missense	probably damaging	1.00
R3608:Ubr2	UTSW	17	46,944,523 (GRCm38)	missense	probably damaging	1.00
R4080:Ubr2	UTSW	17	46,988,722 (GRCm38)	missense	probably benign	0.05
R4330:Ubr2	UTSW	17	46,967,278 (GRCm38)	missense	probably null	1.00
R4383:Ubr2	UTSW	17	46,939,387 (GRCm38)	missense	probably benign	0.01
R4460:Ubr2	UTSW	17	46,945,045 (GRCm38)	critical splice donor site	probably null
R4794:Ubr2	UTSW	17	46,930,445 (GRCm38)	missense	probably damaging	1.00
R4902:Ubr2	UTSW	17	46,985,996 (GRCm38)	missense	possibly damaging	0.91
R4913:Ubr2	UTSW	17	46,959,459 (GRCm38)	splice site	probably null
R5092:Ubr2	UTSW	17	46,969,247 (GRCm38)	missense	probably damaging	1.00
R5209:Ubr2	UTSW	17	46,968,424 (GRCm38)	missense	probably damaging	1.00
R5226:Ubr2	UTSW	17	46,983,270 (GRCm38)	missense	probably benign	0.04
R5437:Ubr2	UTSW	17	46,963,697 (GRCm38)	missense	probably benign	0.00
R5607:Ubr2	UTSW	17	46,934,200 (GRCm38)	nonsense	probably null
R5848:Ubr2	UTSW	17	46,956,655 (GRCm38)	missense	possibly damaging	0.84
R6089:Ubr2	UTSW	17	46,982,292 (GRCm38)	missense	possibly damaging	0.95
R6382:Ubr2	UTSW	17	46,957,315 (GRCm38)	missense	possibly damaging	0.56
R6552:Ubr2	UTSW	17	46,966,268 (GRCm38)	splice site	probably null
R6630:Ubr2	UTSW	17	46,951,984 (GRCm38)	missense	possibly damaging	0.51
R6892:Ubr2	UTSW	17	46,934,108 (GRCm38)	missense	probably damaging	0.99
R6936:Ubr2	UTSW	17	46,973,031 (GRCm38)	missense	possibly damaging	0.94
R7039:Ubr2	UTSW	17	47,010,213 (GRCm38)	missense	probably benign	0.01
R7050:Ubr2	UTSW	17	46,961,602 (GRCm38)	missense	probably benign	0.30
R7078:Ubr2	UTSW	17	46,955,853 (GRCm38)	missense	possibly damaging	0.59
R7126:Ubr2	UTSW	17	46,974,056 (GRCm38)	splice site	probably null
R7219:Ubr2	UTSW	17	46,935,434 (GRCm38)	nonsense	probably null
R7262:Ubr2	UTSW	17	47,000,739 (GRCm38)	missense	probably damaging	0.97
R7352:Ubr2	UTSW	17	46,930,426 (GRCm38)	missense	probably benign	0.19
R7366:Ubr2	UTSW	17	46,955,845 (GRCm38)	missense	probably damaging	0.99
R7449:Ubr2	UTSW	17	46,964,788 (GRCm38)	missense	probably damaging	1.00
R7496:Ubr2	UTSW	17	46,990,991 (GRCm38)	critical splice donor site	probably null
R7759:Ubr2	UTSW	17	46,986,048 (GRCm38)	missense	probably damaging	1.00
R7869:Ubr2	UTSW	17	46,991,008 (GRCm38)	missense	probably benign	0.00
R7916:Ubr2	UTSW	17	46,968,382 (GRCm38)	critical splice donor site	probably null
R8236:Ubr2	UTSW	17	46,951,909 (GRCm38)	missense	probably benign
R8376:Ubr2	UTSW	17	46,942,795 (GRCm38)	missense	probably benign	0.07
R9026:Ubr2	UTSW	17	46,934,115 (GRCm38)	missense	probably damaging	1.00
R9216:Ubr2	UTSW	17	46,981,359 (GRCm38)	missense	probably benign	0.36
R9339:Ubr2	UTSW	17	46,973,939 (GRCm38)	missense	probably benign	0.30
R9558:Ubr2	UTSW	17	46,951,917 (GRCm38)	missense	probably benign
R9606:Ubr2	UTSW	17	46,934,094 (GRCm38)	missense	probably damaging	1.00
R9644:Ubr2	UTSW	17	46,955,780 (GRCm38)	critical splice donor site	probably null
R9731:Ubr2	UTSW	17	46,963,145 (GRCm38)	critical splice donor site	probably null
X0027:Ubr2	UTSW	17	47,000,629 (GRCm38)	missense	probably damaging	0.99
X0061:Ubr2	UTSW	17	46,970,111 (GRCm38)	missense	possibly damaging	0.88
Z1177:Ubr2	UTSW	17	47,000,766 (GRCm38)	missense	possibly damaging	0.76
Z1177:Ubr2	UTSW	17	46,959,509 (GRCm38)	missense	probably benign
Z1177:Ubr2	UTSW	17	47,010,143 (GRCm38)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- AGATTCAGCCGAACTTATTTCCTG -3'
(R):5'- TCTAACTGTGTGGCACTGGAG -3'

Sequencing Primer
(F):5'- CTGTTGTCTTTCTGGAAAAGCC -3'
(R):5'- TGTGGCACTGGAGTACCTAC -3'

Posted On

2016-07-06