Mutagenetix > Incidental Mutation

Incidental Mutation 'R1361:Rnase2b'

156379

Institutional Source

Beutler Lab

Gene Symbol

Rnase2b

Ensembl Gene

ENSMUSG00000059606

Gene Name

ribonuclease, RNase A family, 2B (liver, eosinophil-derived neurotoxin)

Synonyms

Ear5, mR5, murine ribonuclease 5

MMRRC Submission

039426-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R1361 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51399717-51400475 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 51400146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 76 (V76I)

Ref Sequence

ENSEMBL: ENSMUSP00000075074 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075648]

AlphaFold

O35292

Predicted Effect

probably damaging
Transcript: ENSMUST00000075648
AA Change: V76I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000075074
Gene: ENSMUSG00000059606
AA Change: V76I

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
RNAse_Pc	27	155	1.26e-48	SMART

Coding Region Coverage

1x: 98.8%
3x: 97.6%
10x: 94.3%
20x: 87.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 1 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	GCCGACC	GCGACC	13: 59,839,412 (GRCm39)		probably null	Het

Other mutations in Rnase2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02089:Rnase2b	APN	14	51,400,240 (GRCm39)	missense	probably benign	0.04
IGL02947:Rnase2b	APN	14	51,400,264 (GRCm39)	missense	probably damaging	1.00
R1358:Rnase2b	UTSW	14	51,400,146 (GRCm39)	missense	probably damaging	1.00
R1359:Rnase2b	UTSW	14	51,400,146 (GRCm39)	missense	probably damaging	1.00
R1466:Rnase2b	UTSW	14	51,400,296 (GRCm39)	nonsense	probably null
R1466:Rnase2b	UTSW	14	51,400,296 (GRCm39)	nonsense	probably null
R1912:Rnase2b	UTSW	14	51,400,357 (GRCm39)	missense	probably damaging	1.00
R2009:Rnase2b	UTSW	14	51,400,347 (GRCm39)	missense	possibly damaging	0.69
R2307:Rnase2b	UTSW	14	51,400,188 (GRCm39)	missense	probably benign	0.00
R3849:Rnase2b	UTSW	14	51,400,205 (GRCm39)	missense	probably damaging	1.00
R4717:Rnase2b	UTSW	14	51,400,174 (GRCm39)	missense	possibly damaging	0.65
R4994:Rnase2b	UTSW	14	51,400,208 (GRCm39)	missense	possibly damaging	0.53
R7167:Rnase2b	UTSW	14	51,400,222 (GRCm39)	missense	probably damaging	1.00
R8919:Rnase2b	UTSW	14	51,400,347 (GRCm39)	missense	possibly damaging	0.69
R9490:Rnase2b	UTSW	14	51,400,284 (GRCm39)	missense	probably benign	0.26
R9756:Rnase2b	UTSW	14	51,400,302 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGTCTCATGCCAGCGACCAAC -3'
(R):5'- GCACTGGAGCTAAAATAGCCGATCC -3'

Sequencing Primer
(F):5'- AACCCCTTCCCAGAAGTTTG -3'
(R):5'- CTGGGGTTACAGGCAACTG -3'

Posted On

2014-02-11