Incidental Mutation 'R5958:Urb2'
ID 471292
Institutional Source Beutler Lab
Gene Symbol Urb2
Ensembl Gene ENSMUSG00000031976
Gene Name URB2 ribosome biogenesis 2 homolog (S. cerevisiae)
Synonyms
MMRRC Submission 044145-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R5958 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 124748247-124775244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124756398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 702 (F702L)
Ref Sequence ENSEMBL: ENSMUSP00000133547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034457] [ENSMUST00000127664] [ENSMUST00000173168]
AlphaFold E9Q7L1
Predicted Effect probably benign
Transcript: ENSMUST00000034457
AA Change: F702L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000034457
Gene: ENSMUSG00000031976
AA Change: F702L

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
AA Change: F702L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000133547
Gene: ENSMUSG00000031976
AA Change: F702L

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.0%
Validation Efficiency 95% (75/79)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T C 19: 57,030,367 (GRCm39) D616G probably damaging Het
Adam30 A G 3: 98,069,280 (GRCm39) N243S probably damaging Het
Adck1 A G 12: 88,425,822 (GRCm39) I417V probably benign Het
Adcy4 T C 14: 56,016,556 (GRCm39) probably null Het
Ahctf1 A G 1: 179,574,107 (GRCm39) probably benign Het
Ap1s3 G T 1: 79,591,960 (GRCm39) T130K probably benign Het
Apold1 C T 6: 134,960,686 (GRCm39) R47C probably damaging Het
Atp13a5 T C 16: 29,157,860 (GRCm39) K197E probably damaging Het
Camk2d T G 3: 126,573,514 (GRCm39) probably benign Het
Ccin A G 4: 43,983,854 (GRCm39) D87G probably damaging Het
Cdan1 T C 2: 120,554,383 (GRCm39) T889A possibly damaging Het
Cel T A 2: 28,450,957 (GRCm39) Y102F probably damaging Het
Cma1 A C 14: 56,179,113 (GRCm39) *248E probably null Het
Cnbd1 T C 4: 18,862,056 (GRCm39) N378S probably benign Het
Col18a1 T A 10: 76,932,231 (GRCm39) Y533F probably benign Het
Cpb2 T C 14: 75,520,827 (GRCm39) I414T probably damaging Het
Dagla T C 19: 10,225,788 (GRCm39) Y792C probably damaging Het
Dlgap5 T A 14: 47,651,211 (GRCm39) E107D probably damaging Het
Dmtf1 T A 5: 9,172,415 (GRCm39) probably benign Het
Dst A G 1: 34,225,131 (GRCm39) K1682R probably damaging Het
Epyc A T 10: 97,485,704 (GRCm39) H48L probably benign Het
Fam135b A G 15: 71,334,744 (GRCm39) S817P Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Foxk1 T C 5: 142,442,429 (GRCm39) V693A probably benign Het
Fuom A T 7: 139,679,811 (GRCm39) F122I probably damaging Het
Glg1 G T 8: 111,985,736 (GRCm39) H31Q probably benign Het
Gm13199 C T 2: 5,867,065 (GRCm39) probably benign Het
Hdac9 G T 12: 34,423,882 (GRCm39) Q595K probably damaging Het
Homez C T 14: 55,094,298 (GRCm39) R119Q probably benign Het
Ifit3b A G 19: 34,589,142 (GRCm39) H106R probably benign Het
Ift57 C T 16: 49,531,471 (GRCm39) probably benign Het
Itk A T 11: 46,235,682 (GRCm39) probably benign Het
Katnip A G 7: 125,412,807 (GRCm39) K358E probably benign Het
Kif20a G A 18: 34,765,468 (GRCm39) A822T probably benign Het
Klhdc3 A T 17: 46,986,028 (GRCm39) V378D probably benign Het
Klhl14 A G 18: 21,698,592 (GRCm39) I407T probably damaging Het
Meioc A T 11: 102,565,979 (GRCm39) T476S probably benign Het
Olfm3 G A 3: 114,915,955 (GRCm39) V276I probably damaging Het
Or5b24 T C 19: 12,912,411 (GRCm39) F103S probably damaging Het
Pcm1 T C 8: 41,782,016 (GRCm39) L1972P probably damaging Het
Pcsk6 A G 7: 65,693,359 (GRCm39) E3G probably damaging Het
Pctp A G 11: 89,876,945 (GRCm39) S185P probably benign Het
Pik3c2a A G 7: 115,961,799 (GRCm39) L1010S probably damaging Het
Pitpnm3 G T 11: 72,003,193 (GRCm39) probably null Het
Prrc2b A G 2: 32,102,092 (GRCm39) M722V possibly damaging Het
Rad18 T C 6: 112,673,603 (GRCm39) probably benign Het
Senp6 T C 9: 80,049,576 (GRCm39) S1036P probably damaging Het
Slc22a22 C T 15: 57,126,932 (GRCm39) A46T possibly damaging Het
Sox15 C T 11: 69,546,556 (GRCm39) R120C probably damaging Het
Spag6l C A 16: 16,580,885 (GRCm39) probably null Het
Strc T C 2: 121,207,403 (GRCm39) H656R possibly damaging Het
Tanc2 A G 11: 105,731,451 (GRCm39) D409G probably benign Het
Thap11 A G 8: 106,582,696 (GRCm39) H235R probably damaging Het
Thsd7a T A 6: 12,337,261 (GRCm39) Y1252F probably benign Het
Tlr11 T G 14: 50,598,234 (GRCm39) N73K probably damaging Het
Ttll10 T C 4: 156,120,523 (GRCm39) probably null Het
Ubr4 A T 4: 139,182,949 (GRCm39) N445I probably damaging Het
Ugt1a6a C T 1: 88,143,510 (GRCm39) probably benign Het
Utp14b A T 1: 78,642,659 (GRCm39) K186* probably null Het
Utp14b A T 1: 78,642,660 (GRCm39) K186M probably damaging Het
Vmn2r16 T A 5: 109,510,153 (GRCm39) M512K possibly damaging Het
Vmn2r27 T A 6: 124,208,686 (GRCm39) M20L 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
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'- GAGCTGCTCTGGATAGTTCAAAC -3'
(R):5'- GTTCTTAACAAGACAGTGGCCAC -3'

Sequencing Primer
(F):5'- GGATAGTTCAAACCTCCCTTTGTTG -3'
(R):5'- AGTGGCCACATATCTCACATCATTC -3'
Posted On 2017-03-31