Mutagenetix > Incidental Mutation

Incidental Mutation 'R1514:Ubr2'

168651

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

039561-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R1514 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46928295-47010556 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47000823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 34 (L34H)

Ref Sequence

ENSEMBL: ENSMUSP00000152895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113335] [ENSMUST00000113337] [ENSMUST00000225599]

AlphaFold

Q6WKZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000113335
AA Change: L34H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108961
Gene: ENSMUSG00000023977
AA Change: L34H

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 damaging
Transcript: ENSMUST00000113337
AA Change: L34H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108963
Gene: ENSMUSG00000023977
AA Change: L34H

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: ENSMUST00000224759

Predicted Effect

probably damaging
Transcript: ENSMUST00000225599
AA Change: L34H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6939

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,612,867 (GRCm38)	L147Q	probably damaging	Het
Aadacl4fm5	T	C	4: 144,777,759 (GRCm38)	N274S	probably damaging	Het
Abcb1a	A	G	5: 8,674,791 (GRCm38)	T75A	possibly damaging	Het
Acvr1	A	T	2: 58,447,585 (GRCm38)	L495*	probably null	Het
Add1	T	C	5: 34,610,617 (GRCm38)	I240T	probably benign	Het
Adgra2	C	A	8: 27,121,278 (GRCm38)	S870*	probably null	Het
Amer3	G	A	1: 34,579,327 (GRCm38)		probably benign	Het
Baz2b	A	T	2: 59,962,326 (GRCm38)	V486D	probably benign	Het
Bcorl1	T	A	X: 48,405,944 (GRCm38)	D1697E	probably damaging	Het
Cenpf	T	C	1: 189,679,141 (GRCm38)	D282G	possibly damaging	Het
Cep112	A	G	11: 108,472,054 (GRCm38)	D200G	probably damaging	Het
Clec4a4	C	T	6: 122,990,442 (GRCm38)	P26S	probably benign	Het
Crygf	A	C	1: 65,928,038 (GRCm38)	R102S	possibly damaging	Het
Cyp2b19	A	T	7: 26,767,160 (GRCm38)	E404D	probably benign	Het
Dcdc2a	A	G	13: 25,061,254 (GRCm38)	I105V	probably benign	Het
Dus4l	T	C	12: 31,640,939 (GRCm38)	M238V	probably damaging	Het
Eprs1	G	A	1: 185,381,834 (GRCm38)	M326I	probably damaging	Het
Evpl	T	C	11: 116,223,835 (GRCm38)	T1010A	probably benign	Het
Fam124b	T	C	1: 80,200,431 (GRCm38)	T284A	possibly damaging	Het
Glb1l2	A	G	9: 26,769,124 (GRCm38)		probably benign	Het
Gm16223	T	A	5: 42,067,955 (GRCm38)		probably null	Het
Gm4952	T	A	19: 12,626,914 (GRCm38)	M230K	probably damaging	Het
Gm5828	C	A	1: 16,769,359 (GRCm38)		noncoding transcript	Het
Hsh2d	G	A	8: 72,200,460 (GRCm38)	D229N	probably benign	Het
Ifna16	T	A	4: 88,676,742 (GRCm38)	T39S	possibly damaging	Het
Kcnc3	G	A	7: 44,595,603 (GRCm38)	G439D	probably damaging	Het
Kif1c	T	C	11: 70,705,729 (GRCm38)	S257P	probably damaging	Het
Kng1	A	G	16: 23,079,760 (GRCm38)	K456E	probably damaging	Het
Lpxn	T	C	19: 12,824,050 (GRCm38)	L142P	probably damaging	Het
Lratd1	C	T	12: 14,149,863 (GRCm38)	V288M	probably damaging	Het
Med23	A	G	10: 24,892,667 (GRCm38)		probably benign	Het
Mks1	A	T	11: 87,861,111 (GRCm38)	D369V	probably benign	Het
Myo1d	A	T	11: 80,685,908 (GRCm38)	Y114N	probably damaging	Het
Npas2	A	G	1: 39,311,854 (GRCm38)	D126G	possibly damaging	Het
Oga	A	G	19: 45,776,931 (GRCm38)	S146P	probably damaging	Het
Onecut2	T	C	18: 64,341,580 (GRCm38)	F401L	possibly damaging	Het
Or10n1	T	C	9: 39,613,696 (GRCm38)	I43T	probably damaging	Het
Or10v1	A	G	19: 11,896,614 (GRCm38)	T198A	probably benign	Het
Or4f61	T	C	2: 112,092,036 (GRCm38)	I222V	probably benign	Het
Parp11	T	A	6: 127,474,293 (GRCm38)	F102Y	possibly damaging	Het
Pcnx1	C	T	12: 81,918,798 (GRCm38)	H580Y	probably damaging	Het
Pde3b	A	G	7: 114,530,766 (GRCm38)	H852R	probably damaging	Het
Pira1	G	A	7: 3,739,640 (GRCm38)	T23I	possibly damaging	Het
Pou2af1	A	G	9: 51,233,208 (GRCm38)	T141A	probably benign	Het
Rgs22	A	C	15: 36,013,100 (GRCm38)	V1190G	probably benign	Het
Rnf112	T	C	11: 61,450,410 (GRCm38)	S450G	probably benign	Het
Rpgrip1l	A	T	8: 91,260,750 (GRCm38)	I893N	probably damaging	Het
Rps3a1	A	G	3: 86,138,527 (GRCm38)	V210A	probably benign	Het
Runx2	C	T	17: 44,735,337 (GRCm38)	A114T	possibly damaging	Het
Sardh	A	G	2: 27,197,690 (GRCm38)	V723A	possibly damaging	Het
Sdk2	C	T	11: 113,838,646 (GRCm38)		silent	Het
Secisbp2	A	G	13: 51,682,095 (GRCm38)	S742G	possibly damaging	Het
Selenow	G	T	7: 15,920,298 (GRCm38)		probably benign	Het
Slc30a4	A	G	2: 122,689,414 (GRCm38)	V226A	probably damaging	Het
Sntb2	A	G	8: 106,991,532 (GRCm38)	N291D	probably damaging	Het
Sorbs2	A	G	8: 45,769,829 (GRCm38)	T190A	probably damaging	Het
Spata31e5	T	A	1: 28,778,748 (GRCm38)	T68S	possibly damaging	Het
Specc1	T	A	11: 62,156,532 (GRCm38)	L909H	probably damaging	Het
Sprr1b	T	C	3: 92,437,107 (GRCm38)	*154W	probably null	Het
Taar4	T	A	10: 23,960,612 (GRCm38)	M40K	possibly damaging	Het
Ubxn6	T	C	17: 56,069,003 (GRCm38)	K386R	probably benign	Het
Vmn2r112	A	T	17: 22,602,844 (GRCm38)	T168S	probably benign	Het
Xirp2	A	T	2: 67,514,323 (GRCm38)	R2303*	probably null	Het
Zbtb14	C	A	17: 69,388,502 (GRCm38)	F398L	probably damaging	Het
Zfp13	G	T	17: 23,576,412 (GRCm38)	T395K	probably damaging	Het
Zfp281	A	G	1: 136,626,697 (GRCm38)	N471S	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
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
R5250:Ubr2	UTSW	17	46,930,442 (GRCm38)	missense	probably benign	0.01
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'- AGCTTTGGAAATCCCAGCGCAG -3'
(R):5'- TCAAATGAACATAGCAGCGGGGTC -3'

Sequencing Primer
(F):5'- AGGGTCTTCAGCGCAGATG -3'
(R):5'- CTGAAGTCAACAGTTAGTTGACTTT -3'

Posted On

2014-04-13