Incidental Mutation 'R1914:Urb2'
ID 214689
Institutional Source Beutler Lab
Gene Symbol Urb2
Ensembl Gene ENSMUSG00000031976
Gene Name URB2 ribosome biogenesis 2 homolog (S. cerevisiae)
Synonyms
MMRRC Submission 039932-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R1914 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 124748247-124775244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 124756537 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 748 (T748K)
Ref Sequence ENSEMBL: ENSMUSP00000133547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034457] [ENSMUST00000127664] [ENSMUST00000173168]
AlphaFold E9Q7L1
Predicted Effect possibly damaging
Transcript: ENSMUST00000034457
AA Change: T748K

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: T748K

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 possibly damaging
Transcript: ENSMUST00000173168
AA Change: T748K

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: T748K

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 0.1083 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.1%
  • 20x: 91.6%
Validation Efficiency 99% (90/91)
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,622,386 (GRCm39) V618E possibly damaging Het
Abca6 T C 11: 110,103,036 (GRCm39) R852G probably benign Het
Akap12 G A 10: 4,306,685 (GRCm39) R1165H probably benign Het
Asxl1 T C 2: 153,243,826 (GRCm39) S1459P probably damaging Het
Bahcc1 C T 11: 120,176,225 (GRCm39) R1957C probably damaging Het
Bcar1 A G 8: 112,442,030 (GRCm39) V270A probably damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Capn15 C A 17: 26,183,837 (GRCm39) A215S probably benign Het
Casz1 T C 4: 149,017,415 (GRCm39) F235L probably damaging Het
Ccdc57 A T 11: 120,794,134 (GRCm39) probably benign Het
Cdh23 A G 10: 60,159,349 (GRCm39) V2142A probably damaging Het
Cdx1 A G 18: 61,152,970 (GRCm39) V212A probably benign Het
Cep104 T C 4: 154,074,296 (GRCm39) L516P possibly damaging Het
Cep95 C T 11: 106,705,464 (GRCm39) T483I probably damaging Het
Cfap100 T C 6: 90,389,329 (GRCm39) probably benign Het
Chia1 T A 3: 106,035,875 (GRCm39) N238K probably benign Het
Cntrl T C 2: 35,052,873 (GRCm39) M1126T probably benign Het
Col28a1 A G 6: 8,176,333 (GRCm39) F8S probably benign Het
Cpeb3 C T 19: 37,031,665 (GRCm39) R579Q probably damaging Het
Dbh A G 2: 27,058,234 (GRCm39) D134G probably damaging Het
Diaph3 A C 14: 86,893,921 (GRCm39) N29K probably damaging Het
Dnajc2 A G 5: 21,986,317 (GRCm39) probably null Het
Ephb1 C T 9: 101,806,577 (GRCm39) C819Y probably damaging Het
Eps8l2 G A 7: 140,941,765 (GRCm39) V650M probably damaging Het
Erlin1 T C 19: 44,047,504 (GRCm39) Y139C probably damaging Het
Fezf2 A T 14: 12,343,988 (GRCm38) V301E probably damaging Het
Fnbp4 T C 2: 90,609,537 (GRCm39) probably benign Het
Gal3st4 T A 5: 138,263,672 (GRCm39) K442N probably benign Het
Gas6 T C 8: 13,527,152 (GRCm39) T199A probably benign Het
Gm10644 G A 8: 84,660,479 (GRCm39) probably benign Het
Gpr88 G T 3: 116,046,073 (GRCm39) S79R possibly damaging Het
Grm4 A T 17: 27,653,686 (GRCm39) C755S probably damaging Het
Hdgfl2 A G 17: 56,403,978 (GRCm39) D278G probably damaging Het
Heatr5a G T 12: 51,952,250 (GRCm39) A1130E probably damaging Het
Heatr9 T G 11: 83,409,035 (GRCm39) I171L possibly damaging Het
Hectd4 A G 5: 121,460,357 (GRCm39) T2209A probably benign Het
Hsh2d A G 8: 72,947,365 (GRCm39) T21A probably damaging Het
Ing1 T A 8: 11,611,577 (GRCm39) V63E probably damaging Het
Irf4 A T 13: 30,945,445 (GRCm39) Q397L probably benign Het
Itgae T A 11: 73,009,469 (GRCm39) probably benign Het
Jrkl A T 9: 13,245,609 (GRCm39) D17E possibly damaging Het
Kcnh6 T A 11: 105,908,270 (GRCm39) Y295* probably null Het
Klf5 T C 14: 99,539,357 (GRCm39) S177P probably benign Het
Lats1 T A 10: 7,586,221 (GRCm39) probably benign Het
Lilrb4a A G 10: 51,368,045 (GRCm39) I53M probably benign Het
Lrrc2 T A 9: 110,810,007 (GRCm39) Y348N probably damaging Het
Man1c1 G C 4: 134,430,749 (GRCm39) P11R probably damaging Het
Med25 A G 7: 44,534,046 (GRCm39) S245P probably benign Het
Mlh3 T C 12: 85,308,442 (GRCm39) Y1115C probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myh10 T C 11: 68,681,034 (GRCm39) L1025P probably damaging Het
Myof T A 19: 37,966,141 (GRCm39) N393I probably damaging Het
Naip6 T A 13: 100,435,936 (GRCm39) E862D probably benign Het
Ncald C T 15: 37,397,324 (GRCm39) A119T probably benign Het
Nipbl T C 15: 8,373,114 (GRCm39) E1044G possibly damaging Het
Nyap2 T C 1: 81,169,602 (GRCm39) S120P probably damaging Het
Oas1a A T 5: 121,043,876 (GRCm39) N85K possibly damaging Het
Or8b12i T C 9: 20,082,324 (GRCm39) Y181C probably benign Het
Pappa2 A T 1: 158,578,133 (GRCm39) D1721E probably damaging Het
Pcid2 A T 8: 13,144,141 (GRCm39) probably null Het
Pou2f2 C T 7: 24,799,581 (GRCm39) A92T possibly damaging Het
Ppp1r16a T C 15: 76,577,268 (GRCm39) L212P probably damaging Het
Ptbp3 A T 4: 59,517,635 (GRCm39) L84Q probably damaging Het
Ptgr2 A T 12: 84,349,096 (GRCm39) Q145L probably benign Het
Pudp T C 18: 50,701,278 (GRCm39) N152D probably benign Het
Rabggta A T 14: 55,958,646 (GRCm39) F62L possibly damaging Het
Rasal3 G A 17: 32,615,324 (GRCm39) Q505* probably null Het
Rbm20 T A 19: 53,852,518 (GRCm39) L1166Q probably damaging Het
Rictor T G 15: 6,789,053 (GRCm39) I223R probably damaging Het
Ripor1 A T 8: 106,343,518 (GRCm39) E270D probably damaging Het
Rorc T C 3: 94,298,480 (GRCm39) C322R probably damaging Het
Rpgrip1l T C 8: 91,959,552 (GRCm39) D1116G probably benign Het
Rsph4a A T 10: 33,789,068 (GRCm39) N638Y probably damaging Het
Scn9a A G 2: 66,396,594 (GRCm39) F100L probably damaging Het
Siglece A G 7: 43,307,219 (GRCm39) V256A probably benign Het
Slc23a2 A T 2: 131,898,686 (GRCm39) L617Q probably damaging Het
Snx9 T C 17: 5,978,531 (GRCm39) I567T possibly damaging Het
Sptan1 C G 2: 29,901,048 (GRCm39) Q1425E probably benign Het
Srd5a3 G A 5: 76,295,552 (GRCm39) V81I probably benign Het
Sugp2 T A 8: 70,706,310 (GRCm39) I790K probably damaging Het
Syde2 T G 3: 145,720,071 (GRCm39) Y764* probably null Het
Tbl1xr1 T C 3: 22,245,074 (GRCm39) probably benign Het
Tmem130 A G 5: 144,674,666 (GRCm39) F353S probably damaging Het
Tmem131 T A 1: 36,835,347 (GRCm39) K1591N probably damaging Het
Trim43c T A 9: 88,722,670 (GRCm39) D105E probably benign Het
Vmn2r18 T C 5: 151,499,286 (GRCm39) N393D probably benign Het
Zfp292 G A 4: 34,805,100 (GRCm39) S2648F possibly 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
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
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'- AGGTACTGCTTAGAACAGCTG -3'
(R):5'- TCTCTGGAAAGAGAGGGCTG -3'

Sequencing Primer
(F):5'- ACAGCTGTATCTTCAGAAGGTG -3'
(R):5'- GCTGTGAAGGAGGGCTG -3'
Posted On 2014-07-14