Incidental Mutation 'R6344:Urb2'
ID 514056
Institutional Source Beutler Lab
Gene Symbol Urb2
Ensembl Gene ENSMUSG00000031976
Gene Name URB2 ribosome biogenesis 2 homolog (S. cerevisiae)
Synonyms
MMRRC Submission 044498-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R6344 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 124748247-124775244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 124757864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 1190 (E1190D)
Ref Sequence ENSEMBL: ENSMUSP00000133547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034457] [ENSMUST00000127664] [ENSMUST00000173168]
AlphaFold E9Q7L1
Predicted Effect probably damaging
Transcript: ENSMUST00000034457
AA Change: E1190D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: E1190D

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 damaging
Transcript: ENSMUST00000173168
AA Change: E1190D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: E1190D

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 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 98.3%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 C T 2: 25,327,706 (GRCm39) P707L probably damaging Het
Bbip1 A G 19: 53,919,912 (GRCm39) V23A probably benign Het
Bdnf A T 2: 109,554,022 (GRCm39) Y132F probably benign Het
C4bp T C 1: 130,583,752 (GRCm39) D72G probably benign Het
Cdcp1 T A 9: 123,011,447 (GRCm39) K343N possibly damaging Het
Cep112 A T 11: 108,410,000 (GRCm39) Y472F probably damaging Het
Cops2 A T 2: 125,700,899 (GRCm39) probably benign Het
Cyp27a1 T C 1: 74,776,008 (GRCm39) probably null Het
Dnah7a T C 1: 53,436,349 (GRCm39) I3998V probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Dnhd1 A G 7: 105,343,817 (GRCm39) I1720M probably benign Het
Fkbpl A G 17: 34,864,544 (GRCm39) K104R probably damaging Het
Helq G T 5: 100,914,594 (GRCm39) A966E probably benign Het
Iba57 G A 11: 59,049,119 (GRCm39) P350L probably damaging Het
Iqgap3 T C 3: 87,989,401 (GRCm39) probably null Het
Kcnj9 A G 1: 172,153,713 (GRCm39) V137A probably benign Het
Kif19a G A 11: 114,672,777 (GRCm39) probably null Het
Kmt2a A T 9: 44,733,156 (GRCm39) probably benign Het
Lilra5 T A 7: 4,241,785 (GRCm39) F195I probably damaging Het
Mcm9 A G 10: 53,414,033 (GRCm39) I349T probably benign Het
Mlst8 A G 17: 24,696,300 (GRCm39) L143P probably damaging Het
Mrc1 T C 2: 14,248,985 (GRCm39) F174L probably damaging Het
Muc5b T A 7: 141,416,708 (GRCm39) L3218Q possibly damaging Het
Myo1h A G 5: 114,466,776 (GRCm39) S275G probably damaging Het
Myo5a T A 9: 75,067,791 (GRCm39) V615D probably benign Het
Myo9b T C 8: 71,780,558 (GRCm39) L485P probably damaging Het
Nav1 A G 1: 135,378,534 (GRCm39) Y1646H probably damaging Het
Nsf A T 11: 103,752,730 (GRCm39) V539D probably damaging Het
Nutm1 A T 2: 112,079,247 (GRCm39) N889K possibly damaging Het
Or2n1b C T 17: 38,459,611 (GRCm39) A44V probably benign Het
Or55b3 A G 7: 102,126,738 (GRCm39) L113P probably damaging Het
Pcdhga2 T A 18: 37,803,815 (GRCm39) V553E probably benign Het
Pkmyt1 T C 17: 23,951,730 (GRCm39) S95P possibly damaging Het
Ranbp2 T A 10: 58,319,708 (GRCm39) probably null Het
Saxo2 T A 7: 82,284,073 (GRCm39) I262F probably damaging Het
Sco1 C T 11: 66,946,571 (GRCm39) R115W probably damaging Het
Slc27a3 G T 3: 90,294,961 (GRCm39) Y330* probably null Het
Slc6a4 C T 11: 76,909,080 (GRCm39) T364I probably damaging Het
Slit2 A G 5: 48,377,023 (GRCm39) I388V probably benign Het
Smc6 C A 12: 11,347,107 (GRCm39) probably benign Het
Snx25 C T 8: 46,488,675 (GRCm39) W747* probably null Het
Stard9 T A 2: 120,534,801 (GRCm39) M3686K probably benign Het
Syne1 T C 10: 4,972,212 (GRCm39) D8732G probably benign Het
Tcaf3 A G 6: 42,574,105 (GRCm39) S36P possibly damaging Het
Trpv6 T C 6: 41,602,356 (GRCm39) probably null Het
Tspear T C 10: 77,710,847 (GRCm39) F490L possibly damaging Het
Ttn A G 2: 76,552,196 (GRCm39) I31147T probably damaging Het
Ugt3a1 A C 15: 9,306,317 (GRCm39) E155D probably damaging Het
Washc2 G T 6: 116,235,719 (GRCm39) Q977H probably benign Het
Yars2 T A 16: 16,120,899 (GRCm39) W18R probably benign 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
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'- CAGCCCAAAATTGCTCAAGTGG -3'
(R):5'- GCAGCACAGAATCAGCTCAG -3'

Sequencing Primer
(F):5'- CCCAAAATTGCTCAAGTGGTGGATAC -3'
(R):5'- CATCAGTTACTTCAGTGCCAGGAG -3'
Posted On 2018-04-27