Incidental Mutation 'R6420:Urb2'
ID 518152
Institutional Source Beutler Lab
Gene Symbol Urb2
Ensembl Gene ENSMUSG00000031976
Gene Name URB2 ribosome biogenesis 2 homolog (S. cerevisiae)
Synonyms
MMRRC Submission 044562-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R6420 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 124748247-124775244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 124773938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 1490 (R1490W)
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: R1490W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: R1490W

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000173168
SMART Domains Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.3115 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,473,566 (GRCm39) I117N probably damaging Het
Abca15 A G 7: 119,996,351 (GRCm39) K1426E possibly damaging Het
Arhgef17 A G 7: 100,579,269 (GRCm39) S560P probably damaging Het
Asb13 G A 13: 3,693,574 (GRCm39) V111I probably damaging Het
Dhx16 A G 17: 36,193,906 (GRCm39) E367G possibly damaging Het
Epc2 T C 2: 49,341,912 (GRCm39) V32A probably damaging Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Hdlbp T C 1: 93,358,726 (GRCm39) E275G probably damaging Het
Kdm7a T C 6: 39,142,102 (GRCm39) D392G probably damaging Het
Lgmn T A 12: 102,389,978 (GRCm39) R4* probably null Het
Lrrk2 C T 15: 91,696,549 (GRCm39) R2446C probably benign Het
Map3k10 A G 7: 27,362,709 (GRCm39) F459S probably damaging Het
Mup1 C G 4: 60,457,758 (GRCm39) E31Q possibly damaging Het
Nckap1l G C 15: 103,399,893 (GRCm39) G1025A possibly damaging Het
Or4d10 T G 19: 12,051,324 (GRCm39) K224T probably benign Het
Or5b24 A C 19: 12,912,584 (GRCm39) T161P probably damaging Het
Or8b39 T A 9: 37,996,890 (GRCm39) S253T probably benign Het
Or8b41 T G 9: 38,054,611 (GRCm39) L55R probably damaging Het
Or8k38 A T 2: 86,488,510 (GRCm39) C97* probably null Het
Pik3r5 G A 11: 68,366,250 (GRCm39) W42* probably null Het
Pkd1l2 C T 8: 117,740,638 (GRCm39) C2153Y probably damaging Het
Rad1 T C 15: 10,488,098 (GRCm39) V74A probably benign Het
Scara3 C T 14: 66,175,701 (GRCm39) G22D possibly damaging Het
Scn1a A G 2: 66,103,542 (GRCm39) I1906T probably damaging Het
Sema5b T A 16: 35,483,516 (GRCm39) D1051E probably benign Het
Slc16a12 T C 19: 34,650,097 (GRCm39) probably null Het
Slc25a23 T C 17: 57,359,780 (GRCm39) I324V probably damaging Het
Sord A T 2: 122,094,602 (GRCm39) K330M possibly damaging Het
Spag9 T C 11: 93,977,128 (GRCm39) V78A probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tnrc6a A G 7: 122,770,297 (GRCm39) T696A probably benign Het
Ttn A G 2: 76,542,619 (GRCm39) Y33456H possibly damaging Het
Unc45a C G 7: 79,989,400 (GRCm39) E23Q probably benign Het
Zfp62 A T 11: 49,107,340 (GRCm39) N477I probably damaging Het
Zfp846 T C 9: 20,505,007 (GRCm39) L289P probably damaging Het
Zfp959 G A 17: 56,205,094 (GRCm39) G377D probably damaging Het
Zswim3 G A 2: 164,662,653 (GRCm39) V378M probably damaging Het
Other mutations in Urb2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R5005:Urb2 UTSW 8 124,757,920 (GRCm39) missense probably damaging 0.97
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
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'- CCTTTGTCTTAGCGAGTCTCAAG -3'
(R):5'- CGTCAGAAGCCTTACATCCTC -3'

Sequencing Primer
(F):5'- TCTTAGCGAGTCTCAAGGCCAG -3'
(R):5'- TCCTCCAGGACTCTGAACTATGAATG -3'
Posted On 2018-05-24