Incidental Mutation 'R6556:Rnaset2a'
ID 522207
Institutional Source Beutler Lab
Gene Symbol Rnaset2a
Ensembl Gene ENSMUSG00000095687
Gene Name ribonuclease T2A
Synonyms Rnaset2, 4930532K22Rik, 0610007O07Rik, 4833423A10Rik, RNASE6PL
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.310) question?
Stock # R6556 (G1)
Quality Score 145.008
Status Not validated
Chromosome 17
Chromosomal Location 8115445-8148097 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8141648 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 74 (D74G)
Ref Sequence ENSEMBL: ENSMUSP00000156372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000097420] [ENSMUST00000231927] [ENSMUST00000232307]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000097420
AA Change: D74G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000095031
Gene: ENSMUSG00000095687
AA Change: D74G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:Ribonuclease_T2 41 217 9.3e-63 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000231927
AA Change: D74G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000232307
AA Change: D74G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029P11Rik A G 15: 81,980,738 D60G probably damaging Het
2310035C23Rik T A 1: 105,726,440 F845I probably damaging Het
4930539E08Rik T A 17: 28,904,611 D114V probably damaging Het
AF366264 G A 8: 13,837,690 Q134* probably null Het
Atp2a1 G T 7: 126,450,262 P536Q probably benign Het
Cabyr T A 18: 12,751,016 S187T probably benign Het
Camkk1 A T 11: 73,033,870 N303I probably benign Het
Cdh13 C T 8: 118,968,187 P259S probably damaging Het
Csnk1g3 A G 18: 53,930,282 D255G possibly damaging Het
Dennd5b A C 6: 149,014,251 probably null Het
Dnajc14 A G 10: 128,814,631 D528G probably benign Het
Edem1 T C 6: 108,854,357 F593S probably benign Het
Erbb2 G A 11: 98,436,082 D1106N possibly damaging Het
Ermp1 T C 19: 29,612,921 M794V possibly damaging Het
Fam208a T G 14: 27,429,258 Y64D probably benign Het
Fam214b C T 4: 43,033,896 R460H probably damaging Het
Fip1l1 T A 5: 74,547,177 probably null Het
Gm11639 A G 11: 105,008,251 N4343S probably null Het
Gm20730 C T 6: 43,081,542 C112Y probably damaging Het
Gtf2h1 T A 7: 46,808,665 C245S probably damaging Het
Hdhd5 T C 6: 120,523,554 H61R probably benign Het
Ighv1-71 A T 12: 115,742,472 V31E probably damaging Het
Igsf9b T C 9: 27,329,555 F688S probably damaging Het
Iqcd T C 5: 120,602,378 V258A probably damaging Het
Kcnc2 G C 10: 112,271,856 G51R probably benign Het
Lpo G T 11: 87,817,763 Y136* probably null Het
Med30 A G 15: 52,730,383 probably benign Het
Mertk T A 2: 128,776,421 V524D probably benign Het
Olfr1156 T C 2: 87,949,976 I86V probably benign Het
Olfr1261 T A 2: 89,994,173 F260Y probably benign Het
Olfr1263 T C 2: 90,015,094 Y55H probably damaging Het
Pde6b T A 5: 108,421,501 M358K possibly damaging Het
Prep GA G 10: 45,158,314 probably null Het
Prpf4b G A 13: 34,896,032 R793Q probably damaging Het
Rela T A 19: 5,647,338 N524K probably damaging Het
Serinc2 T A 4: 130,258,271 I267F probably damaging Het
Sesn3 T C 9: 14,321,253 F274S possibly damaging Het
Spag1 T C 15: 36,195,407 Y249H probably damaging Het
Sstr1 A T 12: 58,213,692 D367V possibly damaging Het
Tnnt1 T C 7: 4,509,577 E110G probably damaging Het
Tpm1 T A 9: 67,028,169 probably null Het
Unc93b1 T C 19: 3,944,105 V412A probably benign Het
Uox G C 3: 146,624,648 probably null Het
Usp44 T C 10: 93,846,008 Y107H probably benign Het
Other mutations in Rnaset2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1792:Rnaset2a UTSW 17 8145576 missense probably damaging 1.00
R5719:Rnaset2a UTSW 17 8132047 missense probably damaging 1.00
R6919:Rnaset2a UTSW 17 8130282 missense probably benign 0.03
R9011:Rnaset2a UTSW 17 8137928 missense probably damaging 1.00
R9121:Rnaset2a UTSW 17 8128717 missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- CAGGGGCTCAGTACTAGTGAATTC -3'
(R):5'- AACCCAGCTTGTCTGTTCTG -3'

Sequencing Primer
(F):5'- AGTACTAGTGAATTCCTCCCTGATC -3'
(R):5'- CCAGTTCCTTTTTCAGAACAAAGTC -3'
Posted On 2018-06-06