Incidental Mutation 'R6210:Rnase2a'
ID 503421
Institutional Source Beutler Lab
Gene Symbol Rnase2a
Ensembl Gene ENSMUSG00000047222
Gene Name ribonuclease, RNase A family, 2A (liver, eosinophil-derived neurotoxin)
Synonyms Ear11
MMRRC Submission 044344-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6210 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 51492719-51493569 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51493131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 78 (V78A)
Ref Sequence ENSEMBL: ENSMUSP00000056418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061936]
AlphaFold Q8K196
Predicted Effect possibly damaging
Transcript: ENSMUST00000061936
AA Change: V78A

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000056418
Gene: ENSMUSG00000047222
AA Change: V78A

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
RNAse_Pc 27 155 1.79e-53 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 95% (52/55)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 T A 18: 10,706,032 (GRCm39) I94F probably damaging Het
Bbox1 A T 2: 110,100,422 (GRCm39) D258E probably benign Het
Catsperb A G 12: 101,378,827 (GRCm39) probably null Het
Ccdc127 T C 13: 74,505,040 (GRCm39) V196A probably benign Het
Cd101 A T 3: 100,925,959 (GRCm39) D253E probably damaging Het
Ceacam15 T C 7: 16,407,214 (GRCm39) Y101C probably damaging Het
Cep135 C T 5: 76,772,570 (GRCm39) L652F probably benign Het
Col5a1 G T 2: 27,922,633 (GRCm39) V234L probably benign Het
Cxcr6 T C 9: 123,639,073 (GRCm39) S25P possibly damaging Het
Dctn4 C T 18: 60,679,865 (GRCm39) Q258* probably null Het
Fmnl2 A T 2: 53,020,457 (GRCm39) N1067I possibly damaging Het
Frrs1 A T 3: 116,672,080 (GRCm39) K59N probably benign Het
Gpr157 T C 4: 150,186,055 (GRCm39) Y206H probably damaging Het
Hephl1 A G 9: 15,001,860 (GRCm39) Y161H possibly damaging Het
Hinfp C T 9: 44,210,169 (GRCm39) probably null Het
Igf2r A T 17: 12,933,838 (GRCm39) N805K probably damaging Het
Ilrun A T 17: 27,986,960 (GRCm39) D255E probably benign Het
Itga3 T C 11: 94,959,717 (GRCm39) probably benign Het
Itga6 A G 2: 71,664,351 (GRCm39) probably null Het
Kcnip1 G A 11: 33,595,600 (GRCm39) T30I possibly damaging Het
Lig4 T C 8: 10,021,585 (GRCm39) T732A probably benign Het
Lmod3 T A 6: 97,224,262 (GRCm39) T520S probably damaging Het
Megf8 G A 7: 25,043,145 (GRCm39) V1356I possibly damaging Het
Mical3 C T 6: 121,017,478 (GRCm39) probably null Het
Msi1 T C 5: 115,573,535 (GRCm39) I8T probably damaging Het
Mug4-ps A T 6: 121,927,276 (GRCm39) noncoding transcript Het
Myo1f T A 17: 33,820,044 (GRCm39) I783N probably damaging Het
Nr6a1 A C 2: 38,619,509 (GRCm39) I462S probably damaging Het
Or2t48 C T 11: 58,420,090 (GRCm39) A241T probably damaging Het
Or8k23 A G 2: 86,186,702 (GRCm39) V8A probably benign Het
Pah C A 10: 87,419,423 (GRCm39) Q449K probably benign Het
Pced1a A G 2: 130,263,839 (GRCm39) V271A probably damaging Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Psg21 A G 7: 18,386,270 (GRCm39) Y239H probably damaging Het
Ptprt T C 2: 162,109,949 (GRCm39) Y180C probably damaging Het
Raet1d T A 10: 22,246,849 (GRCm39) I59N probably damaging Het
Rfx1 T C 8: 84,819,647 (GRCm39) L653P probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Homo
Serbp1 T C 6: 67,249,851 (GRCm39) probably benign Het
Tlr1 A T 5: 65,082,629 (GRCm39) H649Q probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpc6 T A 9: 8,656,731 (GRCm39) D719E probably benign Het
Ttc21b A T 2: 66,066,698 (GRCm39) S318R probably benign Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Uhmk1 T C 1: 170,039,806 (GRCm39) Q187R probably damaging Het
Ung C T 5: 114,269,438 (GRCm39) A50V probably benign Het
Upk3bl C T 5: 136,088,674 (GRCm39) Q103* probably null Het
Usp17le C A 7: 104,418,350 (GRCm39) C264F probably damaging Het
Vmn2r105 T A 17: 20,448,758 (GRCm39) N140Y probably damaging Het
Vmn2r84 C T 10: 130,222,114 (GRCm39) C702Y probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp748 G A 13: 67,688,923 (GRCm39) P779L possibly damaging Het
Other mutations in Rnase2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03390:Rnase2a APN 14 51,492,945 (GRCm39) missense probably damaging 0.97
R2024:Rnase2a UTSW 14 51,493,245 (GRCm39) missense probably damaging 0.99
R4487:Rnase2a UTSW 14 51,493,302 (GRCm39) missense unknown
R4774:Rnase2a UTSW 14 51,493,201 (GRCm39) missense probably damaging 1.00
R5431:Rnase2a UTSW 14 51,493,020 (GRCm39) missense possibly damaging 0.64
R7104:Rnase2a UTSW 14 51,492,988 (GRCm39) missense probably benign
R7699:Rnase2a UTSW 14 51,493,248 (GRCm39) missense probably damaging 1.00
R7700:Rnase2a UTSW 14 51,493,248 (GRCm39) missense probably damaging 1.00
R8295:Rnase2a UTSW 14 51,493,096 (GRCm39) missense probably benign 0.36
R8869:Rnase2a UTSW 14 51,493,101 (GRCm39) missense possibly damaging 0.93
R9640:Rnase2a UTSW 14 51,493,117 (GRCm39) missense probably damaging 0.99
X0023:Rnase2a UTSW 14 51,493,161 (GRCm39) missense probably damaging 1.00
Z1176:Rnase2a UTSW 14 51,493,286 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTGAACTGGAACCACTGGATAC -3'
(R):5'- GGACATGTCCTAATGCTTGCC -3'

Sequencing Primer
(F):5'- ATACATGGGACTGTCCTGAGG -3'
(R):5'- AATGCTTGCCTCATGCCAG -3'
Posted On 2018-02-27