Mutagenetix > Incidental Mutation

Incidental Mutation 'R9216:Ubr2'

699222

Institutional Source

Beutler Lab

Gene Symbol

Ubr2

Ensembl Gene

ENSMUSG00000023977

Gene Name

ubiquitin protein ligase E3 component n-recognin 2

Synonyms

ENSMUSG00000043296, E130209G04Rik, 9930021A08Rik

MMRRC Submission

068958-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.891) question?

Stock #

R9216 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47239221-47321482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 47292285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 393 (A393T)

Ref Sequence

ENSEMBL: ENSMUSP00000108961 (fasta)

Gene Model

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

AlphaFold

Q6WKZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000113335
AA Change: A393T

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108961
Gene: ENSMUSG00000023977
AA Change: A393T

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: A393T

PolyPhen 2 Score 0.369 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108963
Gene: ENSMUSG00000023977
AA Change: A393T

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

probably benign
Transcript: ENSMUST00000225599

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (50/50)

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
Akap6	A	T	12: 52,927,668 (GRCm39)	T193S	probably benign	Het
Anpep	T	C	7: 79,486,049 (GRCm39)	T558A	possibly damaging	Het
Asap2	A	G	12: 21,263,191 (GRCm39)	I269V	probably benign	Het
B3galnt2	T	C	13: 14,165,423 (GRCm39)	V273A	probably benign	Het
Bag3	C	A	7: 128,143,923 (GRCm39)	D306E	possibly damaging	Het
Bahcc1	C	T	11: 120,177,514 (GRCm39)	P2076S	probably damaging	Het
Btbd7	A	C	12: 102,761,563 (GRCm39)	L541V	probably damaging	Het
C6	A	T	15: 4,820,465 (GRCm39)	D492V	probably damaging	Het
Cdhr5	C	T	7: 140,851,615 (GRCm39)	S563N	possibly damaging	Het
Cnn1	C	G	9: 22,019,474 (GRCm39)	L281V	probably benign	Het
Egflam	G	A	15: 7,281,942 (GRCm39)	T398I	probably benign	Het
Eif4g2	T	G	7: 110,673,415 (GRCm39)	D788A	probably benign	Het
Elavl4	T	C	4: 110,108,546 (GRCm39)	E66G	probably damaging	Het
Fbxw16	T	A	9: 109,276,887 (GRCm39)	D87V	probably damaging	Het
Fsip2	A	T	2: 82,820,425 (GRCm39)	D5386V	probably damaging	Het
Ftl1	A	C	7: 45,108,959 (GRCm39)	S33A	probably benign	Het
Gm21560	T	C	14: 6,218,338 (GRCm38)	R47G	probably damaging	Het
Itpkc	A	T	7: 26,927,429 (GRCm39)	C162S	probably benign	Het
Katnip	T	A	7: 125,471,926 (GRCm39)	I1531N	probably damaging	Het
Kremen2	C	T	17: 23,962,781 (GRCm39)	A102T	probably damaging	Het
L3mbtl1	A	T	2: 162,806,972 (GRCm39)	Q480L	probably benign	Het
Lyst	T	C	13: 13,823,188 (GRCm39)	C1387R	probably benign	Het
Nmi	A	G	2: 51,846,003 (GRCm39)	V93A	probably damaging	Het
Ntn1	T	C	11: 68,117,397 (GRCm39)	K484R	possibly damaging	Het
Olig1	T	C	16: 91,066,915 (GRCm39)	S51P	probably benign	Het
Or6c76	A	T	10: 129,611,796 (GRCm39)	R4S	probably benign	Het
Pah	G	T	10: 87,357,888 (GRCm39)	V4F	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pramel39-ps	A	T	5: 94,450,952 (GRCm39)	N391K	possibly damaging	Het
Prox1	C	A	1: 189,892,905 (GRCm39)	E513D	possibly damaging	Het
Psd3	T	C	8: 68,573,539 (GRCm39)	N214S	probably benign	Het
Rhobtb1	A	G	10: 69,108,628 (GRCm39)	S505G	probably benign	Het
Ryr1	A	T	7: 28,801,277 (GRCm39)	L829H	probably damaging	Het
Sec16a	A	T	2: 26,304,401 (GRCm39)	D852E		Het
Senp2	T	C	16: 21,847,344 (GRCm39)		probably null	Het
Sf3b1	A	G	1: 55,051,376 (GRCm39)	V184A	probably benign	Het
Skint5	T	C	4: 113,392,955 (GRCm39)	T1226A	unknown	Het
Slc1a6	G	A	10: 78,637,692 (GRCm39)	R406H	probably damaging	Het
Slc26a4	C	A	12: 31,578,659 (GRCm39)	V665L	possibly damaging	Het
Spef2	T	C	15: 9,647,611 (GRCm39)	Y932C	probably damaging	Het
Spidr	T	A	16: 15,936,814 (GRCm39)	N97I	probably benign	Het
Ttn	A	G	2: 76,748,504 (GRCm39)	S4182P	probably damaging	Het
Tubb6	T	C	18: 67,534,514 (GRCm39)	S138P	probably damaging	Het
Utrn	G	T	10: 12,689,229 (GRCm39)	P19T	probably benign	Het
Vcl	T	G	14: 21,033,515 (GRCm39)	L157W	probably damaging	Het
Vmn1r184	A	T	7: 25,966,703 (GRCm39)	I150F	probably benign	Het
Vmn1r22	A	T	6: 57,877,257 (GRCm39)	M240K	possibly damaging	Het
Vmn2r14	A	T	5: 109,369,112 (GRCm39)	S154T	probably benign	Het
Wbp2	T	C	11: 115,974,724 (GRCm39)	N37D	probably benign	Het
Zfc3h1	C	G	10: 115,221,528 (GRCm39)	D142E	unknown	Het
Zmym6	T	C	4: 127,002,500 (GRCm39)	V577A	probably benign	Het
Zxdc	C	A	6: 90,359,189 (GRCm39)	T607K	probably benign	Het

Other mutations in Ubr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Ubr2	APN	17	47,296,986 (GRCm39)	splice site	probably benign
IGL00332:Ubr2	APN	17	47,301,916 (GRCm39)	critical splice donor site	probably null
IGL00518:Ubr2	APN	17	47,303,922 (GRCm39)	missense	probably damaging	1.00
IGL00693:Ubr2	APN	17	47,283,907 (GRCm39)	missense	probably benign	0.01
IGL00785:Ubr2	APN	17	47,255,791 (GRCm39)	missense	possibly damaging	0.69
IGL01144:Ubr2	APN	17	47,268,247 (GRCm39)	missense	probably damaging	1.00
IGL01459:Ubr2	APN	17	47,241,435 (GRCm39)	splice site	probably benign
IGL01637:Ubr2	APN	17	47,267,580 (GRCm39)	missense	probably damaging	1.00
IGL01710:Ubr2	APN	17	47,254,335 (GRCm39)	missense	probably benign	0.00
IGL01726:Ubr2	APN	17	47,303,907 (GRCm39)	splice site	probably benign
IGL01925:Ubr2	APN	17	47,265,875 (GRCm39)	missense	possibly damaging	0.92
IGL01960:Ubr2	APN	17	47,284,893 (GRCm39)	missense	probably benign	0.45
IGL02170:Ubr2	APN	17	47,278,123 (GRCm39)	missense	probably benign	0.05
IGL02308:Ubr2	APN	17	47,245,119 (GRCm39)	missense	probably damaging	1.00
IGL02387:Ubr2	APN	17	47,274,076 (GRCm39)	missense	probably benign
IGL02696:Ubr2	APN	17	47,274,691 (GRCm39)	missense	probably benign
IGL02726:Ubr2	APN	17	47,283,847 (GRCm39)	missense	probably damaging	1.00
IGL02750:Ubr2	APN	17	47,280,208 (GRCm39)	missense	probably benign	0.00
IGL02934:Ubr2	APN	17	47,268,266 (GRCm39)	missense	possibly damaging	0.50
IGL02959:Ubr2	APN	17	47,286,877 (GRCm39)	missense	probably damaging	0.96
IGL03018:Ubr2	APN	17	47,264,972 (GRCm39)	missense	possibly damaging	0.64
IGL03343:Ubr2	APN	17	47,262,844 (GRCm39)	missense	probably benign	0.00
PIT4280001:Ubr2	UTSW	17	47,255,789 (GRCm39)	missense	probably damaging	1.00
R0044:Ubr2	UTSW	17	47,303,911 (GRCm39)	splice site	probably benign
R0044:Ubr2	UTSW	17	47,303,911 (GRCm39)	splice site	probably benign
R0446:Ubr2	UTSW	17	47,294,224 (GRCm39)	missense	probably damaging	1.00
R0513:Ubr2	UTSW	17	47,297,705 (GRCm39)	nonsense	probably null
R0565:Ubr2	UTSW	17	47,266,812 (GRCm39)	missense	probably damaging	1.00
R0600:Ubr2	UTSW	17	47,278,174 (GRCm39)	missense	probably damaging	0.99
R0690:Ubr2	UTSW	17	47,249,579 (GRCm39)	missense	probably damaging	0.97
R0710:Ubr2	UTSW	17	47,249,607 (GRCm39)	missense	probably damaging	0.96
R0761:Ubr2	UTSW	17	47,294,242 (GRCm39)	missense	probably damaging	1.00
R0798:Ubr2	UTSW	17	47,280,102 (GRCm39)	splice site	probably benign
R0862:Ubr2	UTSW	17	47,278,009 (GRCm39)	nonsense	probably null
R0947:Ubr2	UTSW	17	47,252,038 (GRCm39)	missense	probably damaging	0.99
R0972:Ubr2	UTSW	17	47,245,187 (GRCm39)	splice site	probably null
R1500:Ubr2	UTSW	17	47,297,615 (GRCm39)	missense	possibly damaging	0.79
R1514:Ubr2	UTSW	17	47,311,749 (GRCm39)	missense	probably damaging	1.00
R1533:Ubr2	UTSW	17	47,278,173 (GRCm39)	nonsense	probably null
R1554:Ubr2	UTSW	17	47,283,877 (GRCm39)	missense	probably benign
R1575:Ubr2	UTSW	17	47,243,418 (GRCm39)	missense	probably damaging	1.00
R1602:Ubr2	UTSW	17	47,251,987 (GRCm39)	missense	probably benign	0.30
R1941:Ubr2	UTSW	17	47,284,952 (GRCm39)	missense	probably damaging	1.00
R1966:Ubr2	UTSW	17	47,265,845 (GRCm39)	missense	probably benign	0.05
R2041:Ubr2	UTSW	17	47,296,973 (GRCm39)	missense	probably damaging	1.00
R2067:Ubr2	UTSW	17	47,274,071 (GRCm39)	critical splice donor site	probably null
R2111:Ubr2	UTSW	17	47,274,071 (GRCm39)	critical splice donor site	probably null
R2189:Ubr2	UTSW	17	47,254,290 (GRCm39)	missense	probably benign	0.01
R2219:Ubr2	UTSW	17	47,296,968 (GRCm39)	missense	possibly damaging	0.94
R2307:Ubr2	UTSW	17	47,277,141 (GRCm39)	nonsense	probably null
R3426:Ubr2	UTSW	17	47,279,365 (GRCm39)	missense	probably damaging	1.00
R3428:Ubr2	UTSW	17	47,279,365 (GRCm39)	missense	probably damaging	1.00
R3608:Ubr2	UTSW	17	47,255,449 (GRCm39)	missense	probably damaging	1.00
R4080:Ubr2	UTSW	17	47,299,648 (GRCm39)	missense	probably benign	0.05
R4330:Ubr2	UTSW	17	47,278,204 (GRCm39)	missense	probably null	1.00
R4383:Ubr2	UTSW	17	47,250,313 (GRCm39)	missense	probably benign	0.01
R4460:Ubr2	UTSW	17	47,255,971 (GRCm39)	critical splice donor site	probably null
R4794:Ubr2	UTSW	17	47,241,371 (GRCm39)	missense	probably damaging	1.00
R4902:Ubr2	UTSW	17	47,296,922 (GRCm39)	missense	possibly damaging	0.91
R4913:Ubr2	UTSW	17	47,270,385 (GRCm39)	splice site	probably null
R5092:Ubr2	UTSW	17	47,280,173 (GRCm39)	missense	probably damaging	1.00
R5209:Ubr2	UTSW	17	47,279,350 (GRCm39)	missense	probably damaging	1.00
R5226:Ubr2	UTSW	17	47,294,196 (GRCm39)	missense	probably benign	0.04
R5250:Ubr2	UTSW	17	47,241,368 (GRCm39)	missense	probably benign	0.01
R5437:Ubr2	UTSW	17	47,274,623 (GRCm39)	missense	probably benign	0.00
R5607:Ubr2	UTSW	17	47,245,126 (GRCm39)	nonsense	probably null
R5848:Ubr2	UTSW	17	47,267,581 (GRCm39)	missense	possibly damaging	0.84
R6089:Ubr2	UTSW	17	47,293,218 (GRCm39)	missense	possibly damaging	0.95
R6382:Ubr2	UTSW	17	47,268,241 (GRCm39)	missense	possibly damaging	0.56
R6552:Ubr2	UTSW	17	47,277,194 (GRCm39)	splice site	probably null
R6630:Ubr2	UTSW	17	47,262,910 (GRCm39)	missense	possibly damaging	0.51
R6892:Ubr2	UTSW	17	47,245,034 (GRCm39)	missense	probably damaging	0.99
R6936:Ubr2	UTSW	17	47,283,957 (GRCm39)	missense	possibly damaging	0.94
R7039:Ubr2	UTSW	17	47,321,139 (GRCm39)	missense	probably benign	0.01
R7050:Ubr2	UTSW	17	47,272,528 (GRCm39)	missense	probably benign	0.30
R7078:Ubr2	UTSW	17	47,266,779 (GRCm39)	missense	possibly damaging	0.59
R7126:Ubr2	UTSW	17	47,284,982 (GRCm39)	splice site	probably null
R7219:Ubr2	UTSW	17	47,246,360 (GRCm39)	nonsense	probably null
R7262:Ubr2	UTSW	17	47,311,665 (GRCm39)	missense	probably damaging	0.97
R7352:Ubr2	UTSW	17	47,241,352 (GRCm39)	missense	probably benign	0.19
R7366:Ubr2	UTSW	17	47,266,771 (GRCm39)	missense	probably damaging	0.99
R7449:Ubr2	UTSW	17	47,275,714 (GRCm39)	missense	probably damaging	1.00
R7496:Ubr2	UTSW	17	47,301,917 (GRCm39)	critical splice donor site	probably null
R7759:Ubr2	UTSW	17	47,296,974 (GRCm39)	missense	probably damaging	1.00
R7869:Ubr2	UTSW	17	47,301,934 (GRCm39)	missense	probably benign	0.00
R7916:Ubr2	UTSW	17	47,279,308 (GRCm39)	critical splice donor site	probably null
R8236:Ubr2	UTSW	17	47,262,835 (GRCm39)	missense	probably benign
R8376:Ubr2	UTSW	17	47,253,721 (GRCm39)	missense	probably benign	0.07
R9026:Ubr2	UTSW	17	47,245,041 (GRCm39)	missense	probably damaging	1.00
R9339:Ubr2	UTSW	17	47,284,865 (GRCm39)	missense	probably benign	0.30
R9558:Ubr2	UTSW	17	47,262,843 (GRCm39)	missense	probably benign
R9606:Ubr2	UTSW	17	47,245,020 (GRCm39)	missense	probably damaging	1.00
R9644:Ubr2	UTSW	17	47,266,706 (GRCm39)	critical splice donor site	probably null
R9731:Ubr2	UTSW	17	47,274,071 (GRCm39)	critical splice donor site	probably null
X0027:Ubr2	UTSW	17	47,311,555 (GRCm39)	missense	probably damaging	0.99
X0061:Ubr2	UTSW	17	47,281,037 (GRCm39)	missense	possibly damaging	0.88
Z1177:Ubr2	UTSW	17	47,311,692 (GRCm39)	missense	possibly damaging	0.76
Z1177:Ubr2	UTSW	17	47,270,435 (GRCm39)	missense	probably benign
Z1177:Ubr2	UTSW	17	47,321,069 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- ATGAGACTGACACATCACGGC -3'
(R):5'- ACAAAGTGGAGAGAGTTTGCTC -3'

Sequencing Primer
(F):5'- ACGGAGCTGTGTCTCCATCAC -3'
(R):5'- GCTCTGTGATCTGAGACACACAATG -3'

Posted On

2022-02-07