Mutagenetix > Incidental Mutation

Incidental Mutation 'R4412:Rpp30'

327993

Institutional Source

Beutler Lab

Gene Symbol

Rpp30

Ensembl Gene

ENSMUSG00000024800

Gene Name

ribonuclease P/MRP 30 subunit

Synonyms

Rnasep2, TSG15

MMRRC Submission

041135-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R4412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36061118-36082173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36077655 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 172 (N172K)

Ref Sequence

ENSEMBL: ENSMUSP00000025714 (fasta)

Gene Model

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

AlphaFold

O88796

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025714
AA Change: N172K

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025714
Gene: ENSMUSG00000024800
AA Change: N172K

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,449,302 (GRCm39)		probably benign	Het
Adprhl1	T	C	8: 13,296,114 (GRCm39)	K144E	probably benign	Het
Alpl	A	G	4: 137,485,939 (GRCm39)	I2T	possibly damaging	Het
Chdh	G	T	14: 29,753,672 (GRCm39)	G194C	probably damaging	Het
Cp	A	T	3: 20,020,517 (GRCm39)	D170V	probably damaging	Het
Cpne9	A	G	6: 113,266,962 (GRCm39)	K132E	possibly damaging	Het
Cyp2b9	T	G	7: 25,897,868 (GRCm39)	L224R	probably damaging	Het
Dmxl1	A	G	18: 49,981,828 (GRCm39)	N153S	probably benign	Het
Dnah17	T	C	11: 117,964,509 (GRCm39)	Y2423C	probably damaging	Het
Dnajc14	G	T	10: 128,642,074 (GRCm39)		probably benign	Het
Eipr1	A	T	12: 28,909,372 (GRCm39)	D213V	probably damaging	Het
Fat1	T	C	8: 45,476,636 (GRCm39)	V1894A	probably damaging	Het
Flrt2	G	A	12: 95,747,047 (GRCm39)	V462I	probably benign	Het
Gigyf2	A	G	1: 87,364,582 (GRCm39)	E954G	probably damaging	Het
Glis1	A	G	4: 107,491,915 (GRCm39)	H593R	probably damaging	Het
Gpr21	C	G	2: 37,407,444 (GRCm39)		probably benign	Het
Gsdmc3	A	G	15: 63,738,645 (GRCm39)	M139T	probably benign	Het
Hydin	C	T	8: 111,142,368 (GRCm39)	T749I	probably damaging	Het
Ilf3	C	T	9: 21,310,856 (GRCm39)	P620S	possibly damaging	Het
Khdc3	A	G	9: 73,010,156 (GRCm39)	T71A	possibly damaging	Het
Ms4a12	T	C	19: 11,207,807 (GRCm39)	N33S	probably benign	Het
Nisch	A	G	14: 30,908,615 (GRCm39)		probably benign	Het
Npr2	G	A	4: 43,644,150 (GRCm39)	C593Y	probably damaging	Het
Npr3	G	C	15: 11,905,235 (GRCm39)	T164R	probably benign	Het
Or4c1	A	G	2: 89,133,684 (GRCm39)	I84T	probably benign	Het
Palld	A	G	8: 62,140,406 (GRCm39)	Y534H	probably damaging	Het
Pcdhb10	TC	T	18: 37,547,194 (GRCm39)		probably null	Het
Plekhg3	A	C	12: 76,624,538 (GRCm39)	T1127P	probably damaging	Het
Podnl1	A	T	8: 84,857,294 (GRCm39)	H301L	probably benign	Het
Ripk2	A	G	4: 16,124,511 (GRCm39)	V399A	probably benign	Het
Sin3b	C	T	8: 73,466,407 (GRCm39)	A291V	probably benign	Het
Slc12a6	A	T	2: 112,166,233 (GRCm39)	Q204L	possibly damaging	Het
Snx9	C	T	17: 5,958,669 (GRCm39)	T249M	probably damaging	Het
Sohlh2	C	A	3: 55,104,423 (GRCm39)	T264K	probably damaging	Het
Srrm2	A	G	17: 24,029,442 (GRCm39)		probably benign	Het
Syne2	T	A	12: 76,152,834 (GRCm39)	H6674Q	probably benign	Het
Tyw1	T	A	5: 130,364,073 (GRCm39)		probably null	Het
Vmn1r115	C	T	7: 20,578,207 (GRCm39)	R235K	probably benign	Het
Vmn2r50	A	C	7: 9,784,235 (GRCm39)	F80V	probably damaging	Het
Yme1l1	G	A	2: 23,065,199 (GRCm39)	R236H	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
R1375:Rpp30	UTSW	19	36,078,673 (GRCm39)	critical splice donor site	probably null
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
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'- GGCCTGCCTTTGTTTAAGCC -3'
(R):5'- TACAAGATCTCGGAAAGCTCATTG -3'

Sequencing Primer
(F):5'- AGTCCCTTGCCATGTAGGAGAC -3'
(R):5'- CTCGGAAAGCTCATTGAAACTG -3'

Posted On

2015-07-07