Mutagenetix > Incidental Mutation

Incidental Mutation 'R6892:Ubr2'

538132

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

044986-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R6892 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47239221-47321482 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 47245034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 1664 (Y1664S)

Ref Sequence

ENSEMBL: ENSMUSP00000108963 (fasta)

Gene Model

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

AlphaFold

Q6WKZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000113335
AA Change: Y1664S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108961
Gene: ENSMUSG00000023977
AA Change: Y1664S

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: Y1664S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108963
Gene: ENSMUSG00000023977
AA Change: Y1664S

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

Meta Mutation Damage Score

0.0658

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

96% (54/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930442H23Rik	C	A	10: 81,018,978 (GRCm39)		probably benign	Het
4933421I07Rik	T	C	7: 42,095,831 (GRCm39)	Q139R	probably benign	Het
A930002H24Rik	C	T	17: 64,170,759 (GRCm39)	V10M	unknown	Het
Acvr2a	T	A	2: 48,787,087 (GRCm39)	L394Q	probably damaging	Het
Ano6	T	C	15: 95,865,505 (GRCm39)	Y830H	probably damaging	Het
Atp8b4	T	A	2: 126,184,922 (GRCm39)	I914F	possibly damaging	Het
Bltp3b	G	A	10: 89,640,985 (GRCm39)	V719I	probably benign	Het
Cab39	A	G	1: 85,776,098 (GRCm39)	D265G	probably damaging	Het
Capn5	A	T	7: 97,785,148 (GRCm39)	W109R	probably damaging	Het
Cdk18	G	T	1: 132,049,848 (GRCm39)	T44K	probably benign	Het
Cdt1	T	A	8: 123,296,951 (GRCm39)	N248K	probably damaging	Het
Cpa4	G	T	6: 30,583,628 (GRCm39)	R248L	probably benign	Het
Cpt1a	G	A	19: 3,421,660 (GRCm39)	V481M	probably benign	Het
Cyp3a11	G	A	5: 145,797,258 (GRCm39)	L374F	probably damaging	Het
Dcdc2a	A	G	13: 25,240,443 (GRCm39)	N64D	probably damaging	Het
Dmxl1	G	A	18: 50,053,969 (GRCm39)	R2525Q	probably damaging	Het
Dscaml1	G	A	9: 45,595,128 (GRCm39)	V744M	probably damaging	Het
Dync1h1	G	A	12: 110,605,335 (GRCm39)	E2391K	probably benign	Het
Ezh1	A	T	11: 101,090,187 (GRCm39)	Y522*	probably null	Het
Fzd3	G	C	14: 65,447,330 (GRCm39)	A533G	possibly damaging	Het
Gm14403	T	G	2: 177,201,040 (GRCm39)	C329G	probably damaging	Het
Gm17067	A	C	7: 42,360,099 (GRCm39)		probably null	Het
Gm38119	A	G	3: 92,645,529 (GRCm39)	C22R	unknown	Het
Grep1	A	G	17: 23,931,328 (GRCm39)	L193P	probably damaging	Het
Gtf3c3	A	G	1: 54,455,100 (GRCm39)	S588P	probably benign	Het
Ift140	A	G	17: 25,239,520 (GRCm39)	E59G	possibly damaging	Het
Ints1	A	T	5: 139,753,583 (GRCm39)	M683K	probably damaging	Het
Iws1	A	G	18: 32,219,327 (GRCm39)	M470V	probably damaging	Het
Mptx1	A	G	1: 174,159,831 (GRCm39)	R46G	probably benign	Het
Nhsl1	C	T	10: 18,400,091 (GRCm39)	T439I	probably damaging	Het
Or10a49	A	G	7: 108,467,722 (GRCm39)	L213P	probably damaging	Het
Peg3	C	T	7: 6,711,898 (GRCm39)	S1108N	possibly damaging	Het
Pgm1	A	G	4: 99,786,905 (GRCm39)	E48G	probably benign	Het
Pkhd1	G	A	1: 20,593,739 (GRCm39)	T1458I	probably damaging	Het
Polr1a	A	T	6: 71,941,696 (GRCm39)	D1068V	possibly damaging	Het
Ptprq	T	C	10: 107,411,865 (GRCm39)	T1834A	probably benign	Het
Rapgef1	T	C	2: 29,589,852 (GRCm39)		probably null	Het
Rgl1	A	T	1: 152,415,691 (GRCm39)	D409E	probably benign	Het
Rgsl1	G	T	1: 153,697,245 (GRCm39)	Y558*	probably null	Het
Rock1	C	T	18: 10,122,612 (GRCm39)	R403H	probably benign	Het
Scn11a	T	A	9: 119,636,035 (GRCm39)	D304V	possibly damaging	Het
Sdk1	A	T	5: 142,032,053 (GRCm39)	I1043F	probably benign	Het
Sgms2	A	G	3: 131,135,803 (GRCm39)	Y24H	probably benign	Het
Sppl2a	A	G	2: 126,755,495 (GRCm39)	I372T	probably damaging	Het
Sptbn1	A	G	11: 30,092,187 (GRCm39)	M526T	probably benign	Het
Stxbp5l	A	T	16: 37,008,991 (GRCm39)	S683T	possibly damaging	Het
Syk	A	T	13: 52,786,934 (GRCm39)	R332S	probably benign	Het
Syne2	T	A	12: 76,009,302 (GRCm39)	V2401E	probably damaging	Het
Tarm1	T	C	7: 3,546,006 (GRCm39)	Y87C	probably damaging	Het
Tbc1d22b	A	G	17: 29,814,864 (GRCm39)	K378E	possibly damaging	Het
Tcte1	A	G	17: 45,844,083 (GRCm39)	T20A	probably benign	Het
Tor1aip2	A	T	1: 155,940,927 (GRCm39)	Y411F	possibly damaging	Het
Trim43c	T	A	9: 88,726,977 (GRCm39)	M267K	probably benign	Het
Vmn1r41	C	A	6: 89,724,163 (GRCm39)	Q235K	possibly damaging	Het
Wdr17	T	C	8: 55,126,631 (GRCm39)	T401A	probably damaging	Het
Zfp454	A	G	11: 50,764,025 (GRCm39)	L469P	probably damaging	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
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
R9216:Ubr2	UTSW	17	47,292,285 (GRCm39)	missense	probably benign	0.36
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'- GCTAAGCTGTCAGTTGGGAG -3'
(R):5'- TGTCCTGTCACAGAATGGTG -3'

Sequencing Primer
(F):5'- TCAGTTGGGAGCTGTCACCAG -3'
(R):5'- ACTGACAGATTATTTTCCAGGGTGC -3'

Posted On

2018-11-06