Mutagenetix > Incidental Mutation

Incidental Mutation 'R8376:Ubr2'

646710

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

067744-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.866) question?

Stock #

R8376 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46928295-47010556 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46942795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1468 (D1468V)

Ref Sequence

ENSEMBL: ENSMUSP00000108961 (fasta)

Gene Model

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

AlphaFold

Q6WKZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000113335
AA Change: D1468V

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000108961
Gene: ENSMUSG00000023977
AA Change: D1468V

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: D1468V

PolyPhen 2 Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108963
Gene: ENSMUSG00000023977
AA Change: D1468V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	C	A	17: 33,067,064 (GRCm38)	A255S	probably benign	Het
Adam32	A	C	8: 24,919,920 (GRCm38)	I173S	possibly damaging	Het
Ahctf1	T	C	1: 179,782,955 (GRCm38)	D599G	probably damaging	Het
Alkal2	G	T	12: 30,884,851 (GRCm38)	G23V	probably damaging	Het
Ankrd40	G	T	11: 94,334,836 (GRCm38)	G231V	probably damaging	Het
Apba2	T	A	7: 64,695,593 (GRCm38)	V177D	probably benign	Het
Atp12a	G	T	14: 56,374,626 (GRCm38)		probably null	Het
Birc6	C	T	17: 74,589,640 (GRCm38)	T1027M	probably benign	Het
Bmpr2	G	A	1: 59,867,356 (GRCm38)	R536H	probably damaging	Het
Brms1l	C	A	12: 55,841,629 (GRCm38)	N67K	probably benign	Het
Cachd1	G	A	4: 100,974,876 (GRCm38)	R745H	probably damaging	Het
Cacnb4	G	A	2: 52,464,653 (GRCm38)	Q238*	probably null	Het
Cdc42	G	A	4: 137,328,894 (GRCm38)	T102I	probably benign	Het
Cfhr1	A	C	1: 139,547,811 (GRCm38)	C307W	unknown	Het
Ddb1	G	A	19: 10,619,305 (GRCm38)	V463M	probably damaging	Het
Dhx30	G	A	9: 110,088,639 (GRCm38)	R365C	probably benign	Het
Dnah1	A	G	14: 31,301,346 (GRCm38)	F1005L	probably damaging	Het
Elp4	A	G	2: 105,842,308 (GRCm38)	V144A	probably benign	Het
Enpp2	T	A	15: 54,910,095 (GRCm38)	N77Y	probably damaging	Het
Fsip1	C	T	2: 118,233,038 (GRCm38)	V317I	possibly damaging	Het
Gc	G	A	5: 89,438,259 (GRCm38)	Q341*	probably null	Het
Gpt2	A	T	8: 85,493,065 (GRCm38)	I47F	probably benign	Het
Ino80	A	T	2: 119,442,487 (GRCm38)	S503T	probably benign	Het
Kcnn4	C	A	7: 24,377,626 (GRCm38)	T200K	possibly damaging	Het
Krtap4-7	A	G	11: 99,643,927 (GRCm38)	S37P	unknown	Het
Lrrc4b	T	C	7: 44,462,594 (GRCm38)	V630A	probably benign	Het
Man2a2	C	T	7: 80,360,923 (GRCm38)	W773*	probably null	Het
Mgrn1	T	A	16: 4,915,766 (GRCm38)	L192Q	probably damaging	Het
Mtx1	A	G	3: 89,214,171 (GRCm38)	V52A	probably benign	Het
Myc	A	T	15: 61,987,546 (GRCm38)	N24Y	possibly damaging	Het
Nbea	G	A	3: 55,643,655 (GRCm38)	S2696L	possibly damaging	Het
Nox4	A	G	7: 87,374,384 (GRCm38)	N493D	probably damaging	Het
Olfr692	C	A	7: 105,368,640 (GRCm38)	P105T	probably benign	Het
Osbpl10	G	A	9: 115,223,593 (GRCm38)	G403D	probably damaging	Het
Pdcd6ip	A	T	9: 113,689,616 (GRCm38)	L192Q	probably damaging	Het
Pde3a	A	G	6: 141,481,221 (GRCm38)	I703V	possibly damaging	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 109,623,788 (GRCm38)		probably benign	Het
Plcb3	A	G	19: 6,966,703 (GRCm38)	S36P	probably damaging	Het
Plk5	T	C	10: 80,360,345 (GRCm38)	F279L	probably damaging	Het
Prl7a1	T	G	13: 27,637,655 (GRCm38)	E99D	probably benign	Het
Rnf4	C	T	5: 34,351,357 (GRCm38)	R188W	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGAGGCGGCGG	7: 97,579,917 (GRCm38)		probably benign	Het
Scel	A	G	14: 103,572,015 (GRCm38)	S264G	probably benign	Het
Sdk1	A	G	5: 142,158,621 (GRCm38)	Q1712R	possibly damaging	Het
Slc15a1	A	G	14: 121,480,703 (GRCm38)	Y255H	probably benign	Het
Syne1	C	T	10: 5,043,615 (GRCm38)	G525D	probably benign	Het
Taldo1	T	C	7: 141,401,875 (GRCm38)	V214A	probably damaging	Het
Tbc1d12	A	G	19: 38,901,409 (GRCm38)	T428A	probably damaging	Het
Tlr6	T	C	5: 64,955,112 (GRCm38)	K151E	probably benign	Het
Ubtf	A	C	11: 102,308,911 (GRCm38)	Y463D	probably damaging	Het
Uroc1	A	T	6: 90,337,715 (GRCm38)	M106L	probably damaging	Het
Vmn1r55	T	A	7: 5,146,870 (GRCm38)	I185L	probably benign	Het
Vmn2r93	T	A	17: 18,304,968 (GRCm38)	V296D	probably damaging	Het
Zfp65	A	C	13: 67,708,918 (GRCm38)	Y81D	probably damaging	Het
Zw10	A	T	9: 49,077,483 (GRCm38)	Y683F	possibly damaging	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
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
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'- TTCTTACACATCCATGCACAGC -3'
(R):5'- TATAATGGCTGGTTCACCGG -3'

Sequencing Primer
(F):5'- TTACACATCCATGCACAGCAACTTC -3'
(R):5'- GGGGATCCATACTATGTGCAC -3'

Posted On

2020-09-02