Incidental Mutation 'R2167:Rnase6'
ID 235568
Institutional Source Beutler Lab
Gene Symbol Rnase6
Ensembl Gene ENSMUSG00000021880
Gene Name ribonuclease, RNase A family, 6
Synonyms 9530043P15Rik
MMRRC Submission 040170-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R2167 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 51361365-51369644 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 51367974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 122 (D122A)
Ref Sequence ENSEMBL: ENSMUSP00000154125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095923] [ENSMUST00000226194] [ENSMUST00000226210]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000095923
AA Change: D122A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000093613
Gene: ENSMUSG00000021880
AA Change: D122A

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
RNAse_Pc 30 153 4.83e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000226194
AA Change: D122A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000226210
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228752
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the ribonuclease A superfamily and functions in the urinary tract. The protein has broad-spectrum antimicrobial activity against pathogenic bacteria. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,238,532 (GRCm39) T710M probably benign Het
Acan A G 7: 78,749,705 (GRCm39) E1492G probably benign Het
Acsl1 A G 8: 46,986,627 (GRCm39) D638G possibly damaging Het
Acsl6 C A 11: 54,217,983 (GRCm39) T207K probably benign Het
Ahnak A T 19: 8,988,858 (GRCm39) K3381* probably null Het
Art1 T C 7: 101,756,031 (GRCm39) V74A probably damaging Het
Bhmt2 A T 13: 93,799,012 (GRCm39) W270R probably benign Het
Calm2 T C 17: 87,742,573 (GRCm39) T118A probably benign Het
Ccdc88b G T 19: 6,831,452 (GRCm39) Q497K possibly damaging Het
Ccne2 A T 4: 11,197,249 (GRCm39) M183L probably benign Het
Cdc42bpg A G 19: 6,367,707 (GRCm39) I1026V probably damaging Het
Celsr2 T C 3: 108,320,509 (GRCm39) T768A probably damaging Het
Cog5 T C 12: 31,887,288 (GRCm39) F470L probably damaging Het
Cpne5 T C 17: 29,381,306 (GRCm39) D374G probably damaging Het
Disp2 A C 2: 118,622,166 (GRCm39) E966A probably damaging Het
Dmrtc2 C T 7: 24,573,344 (GRCm39) probably benign Het
Eif2b3 T A 4: 116,885,737 (GRCm39) I93N probably damaging Het
Elfn2 C A 15: 78,556,646 (GRCm39) V634L probably benign Het
Fasl T G 1: 161,614,707 (GRCm39) S119R probably benign Het
Foxp2 C G 6: 15,437,901 (GRCm39) P701A probably damaging Het
Helz T A 11: 107,563,790 (GRCm39) probably benign Het
Kctd6 T C 14: 8,222,683 (GRCm38) V175A probably benign Het
Leo1 A G 9: 75,352,991 (GRCm39) N178S probably benign Het
Lhx6 C A 2: 35,993,371 (GRCm39) R80L probably damaging Het
Man1a2 A G 3: 100,499,216 (GRCm39) L406P probably damaging Het
Mapkap1 T C 2: 34,487,494 (GRCm39) F231L probably damaging Het
Mknk2 A G 10: 80,504,535 (GRCm39) Y256H probably damaging Het
Msh6 A G 17: 88,296,911 (GRCm39) T1203A probably damaging Het
Nbeal2 T C 9: 110,467,376 (GRCm39) Y604C probably damaging Het
Ncam1 G T 9: 49,479,781 (GRCm39) Q66K probably benign Het
Nsd2 T A 5: 34,040,263 (GRCm39) H933Q probably damaging Het
Or10h5 T A 17: 33,434,542 (GRCm39) I262F probably damaging Het
Or13p3 T C 4: 118,567,252 (GRCm39) V216A probably benign Het
Or2d3c A G 7: 106,525,797 (GRCm39) Y290H probably damaging Het
Or5h23 T A 16: 58,905,949 (GRCm39) K299I probably benign Het
Pappa A C 4: 65,074,682 (GRCm39) D412A probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rassf6 C T 5: 90,751,797 (GRCm39) E308K probably damaging Het
Rb1 T C 14: 73,449,091 (GRCm39) T680A probably damaging Het
Rfpl4 T A 7: 5,113,852 (GRCm39) I104F probably damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Rsf1 GGCG GGCGACGGCAGCG 7: 97,229,113 (GRCm39) probably benign Het
Sec31b G A 19: 44,531,792 (GRCm39) T39I possibly damaging Het
Slc12a1 A G 2: 125,015,601 (GRCm39) I385V probably damaging Het
Slc6a17 A T 3: 107,398,817 (GRCm39) Y261* probably null Het
Supt6 G A 11: 78,098,993 (GRCm39) P1626L possibly damaging Het
Tbx15 A G 3: 99,233,771 (GRCm39) probably benign Het
Telo2 A G 17: 25,329,792 (GRCm39) V240A probably benign Het
Trhr C T 15: 44,092,638 (GRCm39) L292F probably damaging Het
Trps1 G A 15: 50,695,126 (GRCm39) L340F possibly damaging Het
Ube2e1 T C 14: 18,284,429 (GRCm38) probably benign Het
Yeats2 T C 16: 20,032,151 (GRCm39) probably benign Het
Zbtb39 G A 10: 127,578,844 (GRCm39) E473K probably benign Het
Zfp235 T A 7: 23,840,387 (GRCm39) S269T possibly damaging Het
Zfp580 C A 7: 5,056,063 (GRCm39) P141Q possibly damaging Het
Other mutations in Rnase6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01861:Rnase6 APN 14 51,367,748 (GRCm39) missense probably benign 0.08
IGL02592:Rnase6 APN 14 51,367,982 (GRCm39) missense probably benign 0.02
R1960:Rnase6 UTSW 14 51,367,889 (GRCm39) missense possibly damaging 0.95
R5197:Rnase6 UTSW 14 51,367,670 (GRCm39) missense unknown
R8364:Rnase6 UTSW 14 51,367,910 (GRCm39) missense probably benign 0.41
R8985:Rnase6 UTSW 14 51,367,632 (GRCm39) missense unknown
R9364:Rnase6 UTSW 14 51,367,862 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- CGCGGTGTCAACAATTATACCC -3'
(R):5'- TCCGTTTTGATAGCGTAGGC -3'

Sequencing Primer
(F):5'- GGTGTCAACAATTATACCCAACACTG -3'
(R):5'- GATAGCGTAGGCATCTTAATTCTTCC -3'
Posted On 2014-10-01