Mutagenetix > Incidental Mutation

Incidental Mutation 'R1375:Rpp30'

157490

Institutional Source

Beutler Lab

Gene Symbol

Rpp30

Ensembl Gene

ENSMUSG00000024800

Gene Name

ribonuclease P/MRP 30 subunit

Synonyms

Rnasep2, TSG15

MMRRC Submission

039439-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R1375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36061118-36082173 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 36078673 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025714]

AlphaFold

O88796

Predicted Effect

probably null
Transcript: ENSMUST00000025714

SMART Domains

Protein: ENSMUSP00000025714
Gene: ENSMUSG00000024800

Domain	Start	End	E-Value	Type
Pfam:RNase_P_p30	5	224	4.2e-66	PFAM

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.8%
20x: 89.3%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,243,042 (GRCm39)	V1268A	possibly damaging	Het
Ccng1	G	A	11: 40,642,941 (GRCm39)	P169S	probably benign	Het
Cep85l	A	T	10: 53,225,354 (GRCm39)	D78E	probably damaging	Het
Csmd1	C	A	8: 16,513,095 (GRCm39)		probably null	Het
Dapk2	C	G	9: 66,127,925 (GRCm39)	R68G	probably damaging	Het
Defb15	T	C	8: 22,420,071 (GRCm39)	N19D	possibly damaging	Het
Dnah8	G	A	17: 30,956,269 (GRCm39)	G2083D	probably damaging	Het
Ggn	T	C	7: 28,871,366 (GRCm39)	S249P	probably damaging	Het
Gm17541	A	T	12: 4,739,825 (GRCm39)		probably benign	Het
Gnptab	T	A	10: 88,268,435 (GRCm39)	L514Q	probably damaging	Het
Heg1	C	A	16: 33,547,246 (GRCm39)	H678N	possibly damaging	Het
Heg1	T	C	16: 33,547,679 (GRCm39)	I846T	possibly damaging	Het
Hydin	G	A	8: 111,232,854 (GRCm39)		probably null	Het
Il17b	T	C	18: 61,823,325 (GRCm39)	V53A	probably benign	Het
Inpp5f	T	A	7: 128,265,753 (GRCm39)	L166*	probably null	Het
Mdfic2	C	T	6: 98,215,260 (GRCm39)	C121Y	possibly damaging	Het
Myh9	A	T	15: 77,653,568 (GRCm39)		probably null	Het
Nsrp1	A	G	11: 76,941,543 (GRCm39)		probably benign	Het
Nup205	T	C	6: 35,177,006 (GRCm39)		probably benign	Het
Olr1	T	C	6: 129,484,039 (GRCm39)	N11S	possibly damaging	Het
Or5w1b	T	A	2: 87,476,081 (GRCm39)	N129Y	probably damaging	Het
Or6b6	A	G	7: 106,571,305 (GRCm39)	L82P	probably damaging	Het
Or6c211	A	T	10: 129,506,241 (GRCm39)	L12Q	probably null	Het
Or8b46	T	A	9: 38,450,830 (GRCm39)	V213D	possibly damaging	Het
Pipox	C	A	11: 77,772,036 (GRCm39)	E363*	probably null	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Septin1	T	C	7: 126,817,333 (GRCm39)	D25G	probably damaging	Het
Stk17b	T	C	1: 53,805,106 (GRCm39)	N152D	possibly damaging	Het
Tasor2	A	G	13: 3,626,029 (GRCm39)	V1307A	probably benign	Het
Thsd7b	A	T	1: 130,087,423 (GRCm39)	N1180I	probably damaging	Het

Other mutations in Rpp30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0271:Rpp30	UTSW	19	36,081,803 (GRCm39)	missense	probably benign
R1068:Rpp30	UTSW	19	36,061,138 (GRCm39)	start codon destroyed	probably null	1.00
R1521:Rpp30	UTSW	19	36,071,785 (GRCm39)	missense	possibly damaging	0.95
R1720:Rpp30	UTSW	19	36,071,827 (GRCm39)	missense	probably damaging	1.00
R1872:Rpp30	UTSW	19	36,064,793 (GRCm39)	missense	probably benign	0.03
R1965:Rpp30	UTSW	19	36,066,549 (GRCm39)	missense	probably damaging	1.00
R1966:Rpp30	UTSW	19	36,066,549 (GRCm39)	missense	probably damaging	1.00
R4412:Rpp30	UTSW	19	36,077,655 (GRCm39)	missense	possibly damaging	0.95
R5576:Rpp30	UTSW	19	36,079,251 (GRCm39)	missense	probably benign	0.00
R5633:Rpp30	UTSW	19	36,064,390 (GRCm39)	missense	probably damaging	1.00
R6293:Rpp30	UTSW	19	36,081,845 (GRCm39)	makesense	probably null
R7437:Rpp30	UTSW	19	36,081,838 (GRCm39)	missense	possibly damaging	0.92
R7699:Rpp30	UTSW	19	36,066,558 (GRCm39)	missense	probably benign	0.00
R7700:Rpp30	UTSW	19	36,066,558 (GRCm39)	missense	probably benign	0.00
R8404:Rpp30	UTSW	19	36,066,603 (GRCm39)	missense	probably damaging	1.00
R8427:Rpp30	UTSW	19	36,071,812 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGACAAGACAGTGAGATGAACTGCC -3'
(R):5'- TGCTGCTTAATCCAAACACCAGGAG -3'

Sequencing Primer
(F):5'- CAGTGAGATGAACTGCCTCTTAG -3'
(R):5'- CTAGTTCAACGTGATGGCTCAG -3'

Posted On

2014-02-18