Mutagenetix > Incidental Mutation

Incidental Mutation 'R5005:Urb2'

390142

Institutional Source

Beutler Lab

Gene Symbol

Urb2

Ensembl Gene

ENSMUSG00000031976

Gene Name

URB2 ribosome biogenesis 2 homolog (S. cerevisiae)

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R5005 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124748247-124775244 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124757920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1209 (V1209A)

Ref Sequence

ENSEMBL: ENSMUSP00000034457 (fasta)

Gene Model

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

AlphaFold

E9Q7L1

Predicted Effect

probably damaging
Transcript: ENSMUST00000034457
AA Change: V1209A

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: V1209A

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: V1209A

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: V1209A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212460

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2b1	T	C	11: 83,230,218 (GRCm39)	V412A	probably damaging	Het
Asic2	T	C	11: 80,774,252 (GRCm39)	Y455C	probably damaging	Het
Bbx	T	C	16: 50,086,714 (GRCm39)	K61E	probably damaging	Het
Cd207	T	C	6: 83,651,367 (GRCm39)	E196G	possibly damaging	Het
Chn1	T	A	2: 73,490,130 (GRCm39)	Q49L	possibly damaging	Het
Cpd	A	G	11: 76,704,396 (GRCm39)	I406T	probably damaging	Het
D630003M21Rik	C	T	2: 158,053,563 (GRCm39)	V642I	possibly damaging	Het
Dnah7b	C	T	1: 46,281,188 (GRCm39)	L2750F	probably damaging	Het
Epyc	A	G	10: 97,510,562 (GRCm39)	T122A	probably benign	Het
Kcnt1	A	G	2: 25,791,358 (GRCm39)	H567R	probably damaging	Het
Magi2	A	G	5: 20,739,444 (GRCm39)	D729G	probably damaging	Het
Myh4	G	T	11: 67,144,241 (GRCm39)	V1204L	probably benign	Het
Noa1	T	C	5: 77,456,873 (GRCm39)	Y344C	probably damaging	Het
Or1j19	A	G	2: 36,677,370 (GRCm39)	M278V	probably benign	Het
Or4c102	A	G	2: 88,422,348 (GRCm39)	M67V	probably benign	Het
Pex1	T	C	5: 3,672,310 (GRCm39)	S718P	probably damaging	Het
Plxnb1	T	A	9: 108,935,647 (GRCm39)	V1061E	probably benign	Het
Rdh16f1	A	G	10: 127,624,546 (GRCm39)	Q128R	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Slc26a9	A	T	1: 131,693,625 (GRCm39)	Q705L	probably damaging	Het
Tas2r143	T	A	6: 42,377,658 (GRCm39)	C163S	probably benign	Het
Tigd2	A	G	6: 59,188,131 (GRCm39)	T333A	probably benign	Het
Vmn2r71	T	A	7: 85,273,352 (GRCm39)	V722D	probably damaging	Het

Other mutations in Urb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Urb2	APN	8	124,755,433 (GRCm39)	missense	probably damaging	1.00
IGL00705:Urb2	APN	8	124,763,376 (GRCm39)	missense	probably benign	0.00
IGL02090:Urb2	APN	8	124,754,976 (GRCm39)	missense	probably benign	0.28
IGL02707:Urb2	APN	8	124,757,425 (GRCm39)	missense	probably benign	0.04
IGL03103:Urb2	APN	8	124,756,491 (GRCm39)	missense	probably benign	0.17
IGL03402:Urb2	APN	8	124,756,588 (GRCm39)	missense	possibly damaging	0.92
R0037:Urb2	UTSW	8	124,773,934 (GRCm39)	missense	probably damaging	1.00
R0113:Urb2	UTSW	8	124,757,665 (GRCm39)	missense	probably benign	0.00
R0883:Urb2	UTSW	8	124,757,709 (GRCm39)	nonsense	probably null
R1015:Urb2	UTSW	8	124,756,173 (GRCm39)	missense	probably damaging	1.00
R1265:Urb2	UTSW	8	124,751,892 (GRCm39)	missense	probably damaging	1.00
R1463:Urb2	UTSW	8	124,757,647 (GRCm39)	missense	probably benign	0.04
R1497:Urb2	UTSW	8	124,754,816 (GRCm39)	missense	probably damaging	1.00
R1556:Urb2	UTSW	8	124,757,356 (GRCm39)	missense	probably damaging	1.00
R1622:Urb2	UTSW	8	124,756,363 (GRCm39)	missense	probably benign
R1914:Urb2	UTSW	8	124,756,537 (GRCm39)	missense	possibly damaging	0.81
R1915:Urb2	UTSW	8	124,756,537 (GRCm39)	missense	possibly damaging	0.81
R2172:Urb2	UTSW	8	124,757,841 (GRCm39)	missense	probably damaging	1.00
R2240:Urb2	UTSW	8	124,756,878 (GRCm39)	missense	probably benign	0.02
R2424:Urb2	UTSW	8	124,757,165 (GRCm39)	missense	probably benign	0.02
R4085:Urb2	UTSW	8	124,757,680 (GRCm39)	missense	probably benign	0.02
R4119:Urb2	UTSW	8	124,773,979 (GRCm39)	missense	probably benign	0.00
R4732:Urb2	UTSW	8	124,755,636 (GRCm39)	missense	probably damaging	1.00
R4733:Urb2	UTSW	8	124,755,636 (GRCm39)	missense	probably damaging	1.00
R4865:Urb2	UTSW	8	124,756,374 (GRCm39)	nonsense	probably null
R5381:Urb2	UTSW	8	124,756,651 (GRCm39)	missense	probably benign	0.02
R5704:Urb2	UTSW	8	124,764,921 (GRCm39)	missense	probably damaging	0.97
R5891:Urb2	UTSW	8	124,757,595 (GRCm39)	missense	possibly damaging	0.64
R5958:Urb2	UTSW	8	124,756,398 (GRCm39)	missense	probably benign	0.01
R5966:Urb2	UTSW	8	124,754,827 (GRCm39)	missense	probably benign	0.00
R6133:Urb2	UTSW	8	124,755,300 (GRCm39)	nonsense	probably null
R6136:Urb2	UTSW	8	124,756,831 (GRCm39)	missense	probably benign
R6341:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6343:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6344:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6417:Urb2	UTSW	8	124,773,938 (GRCm39)	missense	probably damaging	1.00
R6420:Urb2	UTSW	8	124,773,938 (GRCm39)	missense	probably damaging	1.00
R6585:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6586:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6587:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R6588:Urb2	UTSW	8	124,757,864 (GRCm39)	missense	probably damaging	0.99
R7061:Urb2	UTSW	8	124,755,036 (GRCm39)	missense	probably benign
R7090:Urb2	UTSW	8	124,757,338 (GRCm39)	missense	probably benign
R7371:Urb2	UTSW	8	124,755,008 (GRCm39)	missense	probably benign	0.00
R7467:Urb2	UTSW	8	124,755,250 (GRCm39)	missense	probably benign
R7542:Urb2	UTSW	8	124,755,327 (GRCm39)	missense	probably benign
R7545:Urb2	UTSW	8	124,756,491 (GRCm39)	missense	probably benign	0.00
R7686:Urb2	UTSW	8	124,771,911 (GRCm39)	missense	probably benign	0.01
R8046:Urb2	UTSW	8	124,754,771 (GRCm39)	missense	possibly damaging	0.92
R8101:Urb2	UTSW	8	124,754,779 (GRCm39)	missense	probably benign	0.01
R8404:Urb2	UTSW	8	124,751,942 (GRCm39)	missense	probably damaging	1.00
R8879:Urb2	UTSW	8	124,755,142 (GRCm39)	missense	probably benign	0.27
R9141:Urb2	UTSW	8	124,755,285 (GRCm39)	missense	probably damaging	1.00
R9174:Urb2	UTSW	8	124,767,987 (GRCm39)	missense	possibly damaging	0.75
R9184:Urb2	UTSW	8	124,771,890 (GRCm39)	missense	probably benign	0.10
R9270:Urb2	UTSW	8	124,750,192 (GRCm39)	unclassified	probably benign
R9304:Urb2	UTSW	8	124,757,247 (GRCm39)	missense	probably benign
R9309:Urb2	UTSW	8	124,754,809 (GRCm39)	missense	probably damaging	1.00
R9328:Urb2	UTSW	8	124,774,034 (GRCm39)	missense	probably damaging	1.00
R9415:Urb2	UTSW	8	124,756,613 (GRCm39)	missense	possibly damaging	0.72
R9426:Urb2	UTSW	8	124,755,285 (GRCm39)	missense	probably damaging	1.00
R9429:Urb2	UTSW	8	124,750,226 (GRCm39)	nonsense	probably null
R9741:Urb2	UTSW	8	124,755,751 (GRCm39)	missense	probably damaging	0.99
X0020:Urb2	UTSW	8	124,757,722 (GRCm39)	missense	possibly damaging	0.91
X0027:Urb2	UTSW	8	124,755,553 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTACCAGGATGTCTACACGC -3'
(R):5'- GCAGCACAGAATCAGCTCAG -3'

Sequencing Primer
(F):5'- TACCAGGATGTCTACACGCAGTTG -3'
(R):5'- ATCAGGACTAATGAGATGCCTC -3'

Posted On

2016-06-06