Mutagenetix > Incidental Mutation

Incidental Mutation 'R8879:Urb2'

676771

Institutional Source

Beutler Lab

Gene Symbol

Urb2

Ensembl Gene

ENSMUSG00000031976

Gene Name

URB2 ribosome biogenesis 2 homolog (S. cerevisiae)

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R8879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124021508-124048505 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 124028403 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 283 (A283E)

Ref Sequence

ENSEMBL: ENSMUSP00000034457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034457] [ENSMUST00000127664] [ENSMUST00000173168]

AlphaFold

E9Q7L1

Predicted Effect

probably benign
Transcript: ENSMUST00000034457
AA Change: A283E

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: A283E

Domain	Start	End	E-Value	Type
low complexity region	489	503	N/A	INTRINSIC
low complexity region	541	546	N/A	INTRINSIC
low complexity region	576	590	N/A	INTRINSIC
low complexity region	887	900	N/A	INTRINSIC
low complexity region	1073	1092	N/A	INTRINSIC
low complexity region	1172	1188	N/A	INTRINSIC
low complexity region	1273	1279	N/A	INTRINSIC
Pfam:Urb2	1319	1515	2.7e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173168
AA Change: A283E

PolyPhen 2 Score 0.563 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: A283E

Domain	Start	End	E-Value	Type
low complexity region	489	503	N/A	INTRINSIC
low complexity region	541	546	N/A	INTRINSIC
low complexity region	576	590	N/A	INTRINSIC
low complexity region	887	900	N/A	INTRINSIC
low complexity region	1073	1092	N/A	INTRINSIC
low complexity region	1172	1188	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	T	15: 58,022,509	V326M	probably damaging	Het
Adap2	T	A	11: 80,156,959	H80Q	probably benign	Het
Ang4	T	C	14: 51,764,486	T2A	probably benign	Het
Arf2	T	C	11: 103,979,759		probably null	Het
B3gnt4	A	G	5: 123,511,148	D192G	probably damaging	Het
BC034090	T	C	1: 155,226,357	I54V	probably benign	Het
Catsper3	A	G	13: 55,804,895	T202A	probably benign	Het
Cenpe	T	A	3: 135,260,101	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,773,705	V191A	probably benign	Het
Col5a1	G	T	2: 28,014,158	A1356S	unknown	Het
Cuzd1	A	G	7: 131,308,848	S573P	probably damaging	Het
Cyp1a2	C	A	9: 57,681,885	M215I	possibly damaging	Het
Dcaf17	T	A	2: 71,063,402	I122K	possibly damaging	Het
Dhcr24	A	G	4: 106,573,809	I232V	probably benign	Het
Dnah10	A	G	5: 124,818,117	E3570G	probably damaging	Het
Dnaja4	A	T	9: 54,714,704		probably benign	Het
Ehd1	A	G	19: 6,298,324	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,836,476	M766L	possibly damaging	Het
Eno4	A	G	19: 58,970,722	I613M	probably benign	Het
Exoc3l	A	T	8: 105,290,549	M602K		Het
Fam107a	C	T	14: 8,301,352		probably null	Het
Frem3	A	T	8: 80,613,148	D690V	probably damaging	Het
Gm11639	T	C	11: 104,690,955	I41T	probably benign	Het
Gm19410	A	T	8: 35,771,868	D97V	probably damaging	Het
Grik5	T	A	7: 25,023,064	D540V	possibly damaging	Het
Hint1	T	A	11: 54,869,943	D69E	probably benign	Het
Krt13	T	C	11: 100,119,385	T257A	probably benign	Het
Lpin2	T	C	17: 71,242,754	L676P	probably damaging	Het
Lrguk	A	G	6: 34,029,683	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,256,298	M375V	probably benign	Het
Lrrtm3	T	C	10: 64,089,238	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,976,529	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,001,784	I135T	probably damaging	Het
Neb	T	C	2: 52,235,580	D475G		Het
Notch2	A	G	3: 98,135,599	S1427G	possibly damaging	Het
Olfr118	C	A	17: 37,672,411	Y129*	probably null	Het
Olfr682-ps1	A	G	7: 105,126,686	V195A	probably benign	Het
Olfr694	A	T	7: 106,689,089	I214N	probably damaging	Het
Olfr816	A	G	10: 129,911,862	C139R	probably damaging	Het
Olfr952	A	C	9: 39,426,219	V284G	possibly damaging	Het
Opcml	T	C	9: 28,902,151	F246S	probably damaging	Het
Pdzd2	C	A	15: 12,402,319	V729F	probably damaging	Het
Pias2	C	T	18: 77,146,768	Q565*	probably null	Het
Pnp	T	A	14: 50,950,720		probably null	Het
Ptpn18	T	C	1: 34,463,130	S76P	probably benign	Het
Qtrt2	A	T	16: 43,863,197	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,457,400	E441V	possibly damaging	Het
Ranbp2	T	A	10: 58,477,889	V1477E	probably benign	Het
Repin1	C	T	6: 48,597,433	T432I	possibly damaging	Het
Rest	G	A	5: 77,282,511	G926R	probably benign	Het
Rnft1	T	A	11: 86,486,690	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,232,094	I415L	probably benign	Het
Slc10a1	T	A	12: 80,967,595	N117I	probably damaging	Het
Slc25a23	G	A	17: 57,059,709		probably benign	Het
Slc2a2	T	C	3: 28,713,802	S160P	possibly damaging	Het
Srrd	A	G	5: 112,338,456	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,921,961	G198C	probably benign	Het
Trbv29	G	A	6: 41,271,405	M1I	probably null	Het
Tril	A	G	6: 53,819,584	S218P	probably damaging	Het
Trip11	T	C	12: 101,862,598	K1749R	probably benign	Het
Ttc25	G	T	11: 100,566,926	E452*	probably null	Het
Ttn	A	G	2: 76,830,651	V12011A		Het
Ubr4	T	G	4: 139,410,518	F1093V	probably benign	Het
Usp43	T	A	11: 67,898,881		probably benign	Het
Vmn1r28	A	T	6: 58,265,684	I171F	probably benign	Het
Vps33a	G	A	5: 123,533,899	R469W	probably damaging	Het
Zfp202	G	A	9: 40,211,757	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,554,620	H158L	probably benign	Het

Other mutations in Urb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Urb2	APN	8	124028694	missense	probably damaging	1.00
IGL00705:Urb2	APN	8	124036637	missense	probably benign	0.00
IGL02090:Urb2	APN	8	124028237	missense	probably benign	0.28
IGL02707:Urb2	APN	8	124030686	missense	probably benign	0.04
IGL03103:Urb2	APN	8	124029752	missense	probably benign	0.17
IGL03402:Urb2	APN	8	124029849	missense	possibly damaging	0.92
R0037:Urb2	UTSW	8	124047195	missense	probably damaging	1.00
R0113:Urb2	UTSW	8	124030926	missense	probably benign	0.00
R0883:Urb2	UTSW	8	124030970	nonsense	probably null
R1015:Urb2	UTSW	8	124029434	missense	probably damaging	1.00
R1265:Urb2	UTSW	8	124025153	missense	probably damaging	1.00
R1463:Urb2	UTSW	8	124030908	missense	probably benign	0.04
R1497:Urb2	UTSW	8	124028077	missense	probably damaging	1.00
R1556:Urb2	UTSW	8	124030617	missense	probably damaging	1.00
R1622:Urb2	UTSW	8	124029624	missense	probably benign
R1914:Urb2	UTSW	8	124029798	missense	possibly damaging	0.81
R1915:Urb2	UTSW	8	124029798	missense	possibly damaging	0.81
R2172:Urb2	UTSW	8	124031102	missense	probably damaging	1.00
R2240:Urb2	UTSW	8	124030139	missense	probably benign	0.02
R2424:Urb2	UTSW	8	124030426	missense	probably benign	0.02
R4085:Urb2	UTSW	8	124030941	missense	probably benign	0.02
R4119:Urb2	UTSW	8	124047240	missense	probably benign	0.00
R4732:Urb2	UTSW	8	124028897	missense	probably damaging	1.00
R4733:Urb2	UTSW	8	124028897	missense	probably damaging	1.00
R4865:Urb2	UTSW	8	124029635	nonsense	probably null
R5005:Urb2	UTSW	8	124031181	missense	probably damaging	0.97
R5381:Urb2	UTSW	8	124029912	missense	probably benign	0.02
R5704:Urb2	UTSW	8	124038182	missense	probably damaging	0.97
R5891:Urb2	UTSW	8	124030856	missense	possibly damaging	0.64
R5958:Urb2	UTSW	8	124029659	missense	probably benign	0.01
R5966:Urb2	UTSW	8	124028088	missense	probably benign	0.00
R6133:Urb2	UTSW	8	124028561	nonsense	probably null
R6136:Urb2	UTSW	8	124030092	missense	probably benign
R6341:Urb2	UTSW	8	124031125	missense	probably damaging	0.99
R6343:Urb2	UTSW	8	124031125	missense	probably damaging	0.99
R6344:Urb2	UTSW	8	124031125	missense	probably damaging	0.99
R6417:Urb2	UTSW	8	124047199	missense	probably damaging	1.00
R6420:Urb2	UTSW	8	124047199	missense	probably damaging	1.00
R6585:Urb2	UTSW	8	124031125	missense	probably damaging	0.99
R6586:Urb2	UTSW	8	124031125	missense	probably damaging	0.99
R6587:Urb2	UTSW	8	124031125	missense	probably damaging	0.99
R6588:Urb2	UTSW	8	124031125	missense	probably damaging	0.99
R7061:Urb2	UTSW	8	124028297	missense	probably benign
R7090:Urb2	UTSW	8	124030599	missense	probably benign
R7371:Urb2	UTSW	8	124028269	missense	probably benign	0.00
R7467:Urb2	UTSW	8	124028511	missense	probably benign
R7542:Urb2	UTSW	8	124028588	missense	probably benign
R7545:Urb2	UTSW	8	124029752	missense	probably benign	0.00
R7686:Urb2	UTSW	8	124045172	missense	probably benign	0.01
R8046:Urb2	UTSW	8	124028032	missense	possibly damaging	0.92
R8101:Urb2	UTSW	8	124028040	missense	probably benign	0.01
R8404:Urb2	UTSW	8	124025203	missense	probably damaging	1.00
R9141:Urb2	UTSW	8	124028546	missense	probably damaging	1.00
R9174:Urb2	UTSW	8	124041248	missense	possibly damaging	0.75
R9184:Urb2	UTSW	8	124045151	missense	probably benign	0.10
R9270:Urb2	UTSW	8	124023453	unclassified	probably benign
R9304:Urb2	UTSW	8	124030508	missense	probably benign
R9309:Urb2	UTSW	8	124028070	missense	probably damaging	1.00
R9328:Urb2	UTSW	8	124047295	missense	probably damaging	1.00
R9415:Urb2	UTSW	8	124029874	missense	possibly damaging	0.72
R9426:Urb2	UTSW	8	124028546	missense	probably damaging	1.00
R9429:Urb2	UTSW	8	124023487	nonsense	probably null
R9741:Urb2	UTSW	8	124029012	missense	probably damaging	0.99
X0020:Urb2	UTSW	8	124030983	missense	possibly damaging	0.91
X0027:Urb2	UTSW	8	124028814	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTAGTCAGGGTCAGCTATGG -3'
(R):5'- ATCTGATAGGGACAGGGCTTC -3'

Sequencing Primer
(F):5'- GGTCAGCTATGGCAGGTAC -3'
(R):5'- ATAGGGACAGGGCTTCTATCTGC -3'

Posted On

2021-07-15