Incidental Mutation 'R6362:Rnaset2b'
ID 512552
Institutional Source Beutler Lab
Gene Symbol Rnaset2b
Ensembl Gene ENSMUSG00000094724
Gene Name ribonuclease T2B
Synonyms
MMRRC Submission 044512-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6362 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 7246259-7265592 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 7259093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 24 (V24I)
Ref Sequence ENSEMBL: ENSMUSP00000156329 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089119] [ENSMUST00000179728] [ENSMUST00000231550] [ENSMUST00000232245] [ENSMUST00000232304]
AlphaFold C0HKG5
C0HKG6
Predicted Effect probably benign
Transcript: ENSMUST00000089119
AA Change: V120I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086519
Gene: ENSMUSG00000094724
AA Change: V120I

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Ribonuclease_T2 39 219 3.1e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179728
AA Change: V120I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137303
Gene: ENSMUSG00000094724
AA Change: V120I

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Ribonuclease_T2 41 217 9.3e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231550
AA Change: V120I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232106
Predicted Effect probably benign
Transcript: ENSMUST00000232245
AA Change: V30I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000232304
AA Change: V24I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 99% (78/79)
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh5a1 T G 13: 25,102,533 (GRCm39) D310A probably benign Het
Als2cl T A 9: 110,724,514 (GRCm39) probably null Het
Amacr C A 15: 10,984,891 (GRCm39) R170S probably damaging Het
Brwd1 C T 16: 95,803,507 (GRCm39) R2221Q probably damaging Het
Cacna1g A T 11: 94,330,533 (GRCm39) probably null Het
Cd3d G A 9: 44,897,589 (GRCm39) D157N probably damaging Het
Cep131 T C 11: 119,955,516 (GRCm39) D1043G probably damaging Het
Cimip1 T G 2: 173,369,967 (GRCm39) probably null Het
Cit A G 5: 116,024,735 (GRCm39) D326G probably benign Het
Col16a1 G C 4: 129,959,983 (GRCm39) G370R unknown Het
Col6a3 T A 1: 90,738,285 (GRCm39) Y1078F probably damaging Het
Colgalt2 A C 1: 152,347,549 (GRCm39) Y161S probably damaging Het
Cyp2j13 A G 4: 95,959,932 (GRCm39) Y75H probably damaging Het
Daxx G A 17: 34,130,338 (GRCm39) V118I probably damaging Het
Dennd5a G T 7: 109,533,472 (GRCm39) C75* probably null Het
Diaph3 A G 14: 87,009,566 (GRCm39) L1071P probably damaging Het
Disp3 A G 4: 148,338,765 (GRCm39) L802P possibly damaging Het
Dmc1 A G 15: 79,473,024 (GRCm39) V141A probably benign Het
Dsc2 A T 18: 20,168,520 (GRCm39) Y45* probably null Het
Dspp A G 5: 104,323,900 (GRCm39) I348V probably benign Het
Epb42 C A 2: 120,856,260 (GRCm39) C428F possibly damaging Het
Fam227a G T 15: 79,527,551 (GRCm39) P100Q possibly damaging Het
Fer1l4 C T 2: 155,890,170 (GRCm39) V252I probably benign Het
Fhod1 C A 8: 106,058,273 (GRCm39) probably null Het
Fhod3 G T 18: 24,887,312 (GRCm39) A68S probably benign Het
Gatm T C 2: 122,428,677 (GRCm39) D328G probably benign Het
Gm6401 G T 14: 41,789,727 (GRCm39) H44N probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Gpr84 G A 15: 103,216,937 (GRCm39) A380V probably damaging Het
Herc1 G T 9: 66,379,190 (GRCm39) W3492L probably damaging Het
Hjurp A T 1: 88,202,772 (GRCm39) Y71N possibly damaging Het
Jag2 T A 12: 112,883,742 (GRCm39) K246N probably damaging Het
Klhl32 T C 4: 24,629,195 (GRCm39) D524G probably null Het
Lax1 A G 1: 133,608,334 (GRCm39) S136P possibly damaging Het
Lefty1 A G 1: 180,764,725 (GRCm39) K217E probably benign Het
Lgr5 A G 10: 115,314,430 (GRCm39) L169P probably damaging Het
Lrrc37 G C 11: 103,511,478 (GRCm39) N163K unknown Het
Mad1l1 A T 5: 140,300,810 (GRCm39) S29T possibly damaging Het
Man1a T C 10: 53,950,891 (GRCm39) H77R probably benign Het
Met C T 6: 17,558,732 (GRCm39) S1120F probably damaging Het
Mfsd4b2 A T 10: 39,797,605 (GRCm39) I250N probably damaging Het
Myod1 A G 7: 46,026,305 (GRCm39) H70R possibly damaging Het
Neb T C 2: 52,102,704 (GRCm39) N4280S probably benign Het
Nudt6 T C 3: 37,473,638 (GRCm39) T28A possibly damaging Het
Nup85 A G 11: 115,474,560 (GRCm39) E628G probably damaging Het
Oaz3 A T 3: 94,342,295 (GRCm39) D120E probably damaging Het
Or2y3 A T 17: 38,393,620 (GRCm39) M83K probably damaging Het
Or5b102 A T 19: 13,040,709 (GRCm39) probably benign Het
Or5be3 C T 2: 86,863,633 (GRCm39) A311T probably benign Het
Or5m8 C A 2: 85,822,285 (GRCm39) N41K probably damaging Het
Or6c1b A C 10: 129,272,812 (GRCm39) I44L probably damaging Het
Osbpl8 A T 10: 111,108,929 (GRCm39) K404* probably null Het
Pcdhga2 A G 18: 37,803,958 (GRCm39) N601D probably damaging Het
Pld2 T C 11: 70,445,501 (GRCm39) Y638H probably damaging Het
Pramel27 A G 4: 143,579,435 (GRCm39) Y340C probably damaging Het
Prickle2 C G 6: 92,435,596 (GRCm39) V2L possibly damaging Het
Psmd6 G A 14: 14,116,949 (GRCm38) R125C probably benign Het
Rusc2 A T 4: 43,416,416 (GRCm39) D574V probably benign Het
Scn8a T A 15: 100,837,996 (GRCm39) probably null Het
Sec11a T C 7: 80,572,879 (GRCm39) E134G probably benign Het
Senp5 A G 16: 31,808,702 (GRCm39) V157A probably damaging Het
Shkbp1 C T 7: 27,051,120 (GRCm39) probably null Het
Slc43a1 T C 2: 84,690,128 (GRCm39) L435P probably damaging Het
Spn G A 7: 126,735,895 (GRCm39) P204L possibly damaging Het
Srr T A 11: 74,801,028 (GRCm39) Q173L probably damaging Het
Star C G 8: 26,301,835 (GRCm39) T222S probably benign Het
Timm22 T A 11: 76,301,953 (GRCm39) Y93N probably damaging Het
Tmc4 G T 7: 3,678,458 (GRCm39) Q58K probably benign Het
Tmem86b C T 7: 4,632,835 (GRCm39) M1I probably null Het
Tmtc2 A T 10: 105,205,831 (GRCm39) I488N probably damaging Het
Tnxb A T 17: 34,913,362 (GRCm39) Y1792F probably damaging Het
Tph1 T A 7: 46,296,867 (GRCm39) R443W possibly damaging Het
Ttyh1 T A 7: 4,132,323 (GRCm39) V253E possibly damaging Het
Usf3 A G 16: 44,038,940 (GRCm39) D1140G probably benign Het
Usp10 T C 8: 120,668,055 (GRCm39) S118P probably benign Het
Vmn2r63 C T 7: 42,552,721 (GRCm39) C845Y probably benign Het
Vmn2r72 G T 7: 85,400,382 (GRCm39) F222L probably damaging Het
Zfp654 G A 16: 64,606,457 (GRCm39) Q582* probably null Het
Zfp791 C T 8: 85,846,279 (GRCm39) probably benign Het
Zfp879 T A 11: 50,729,302 (GRCm39) D32V probably damaging Het
Other mutations in Rnaset2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02428:Rnaset2b APN 17 7,248,568 (GRCm39) critical splice donor site probably null
R1209:Rnaset2b UTSW 17 7,246,475 (GRCm39) missense probably benign 0.00
R1238:Rnaset2b UTSW 17 7,256,169 (GRCm39) missense probably damaging 1.00
R1753:Rnaset2b UTSW 17 7,248,506 (GRCm39) critical splice acceptor site probably null
R1987:Rnaset2b UTSW 17 7,263,876 (GRCm39) missense probably benign 0.06
R4488:Rnaset2b UTSW 17 7,265,469 (GRCm39) missense probably damaging 1.00
R4810:Rnaset2b UTSW 17 7,259,167 (GRCm39) missense probably benign 0.00
R6081:Rnaset2b UTSW 17 7,256,193 (GRCm39) critical splice donor site probably null
R7312:Rnaset2b UTSW 17 7,265,427 (GRCm39) missense probably benign 0.14
R7319:Rnaset2b UTSW 17 7,259,166 (GRCm39) missense probably benign 0.43
R7535:Rnaset2b UTSW 17 7,259,138 (GRCm39) missense possibly damaging 0.92
R8482:Rnaset2b UTSW 17 7,263,908 (GRCm39) critical splice donor site probably null
R9655:Rnaset2b UTSW 17 7,259,134 (GRCm39) missense probably damaging 1.00
Z1176:Rnaset2b UTSW 17 7,259,185 (GRCm39) missense possibly damaging 0.61
Z1177:Rnaset2b UTSW 17 7,252,490 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCGGAAGTGATTTGTAGTAGAAAGC -3'
(R):5'- TCAGTCACAGTACGACAACTTG -3'

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