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

TSG15, Rnasep2

MMRRC Submission

041135-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.943) question?

Stock #

R4412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36083716-36104772 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36100255 bp (GRCm38)

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: 74,577,453		probably benign	Het
Adprhl1	T	C	8: 13,246,114	K144E	probably benign	Het
Alpl	A	G	4: 137,758,628	I2T	possibly damaging	Het
Chdh	G	T	14: 30,031,715	G194C	probably damaging	Het
Cp	A	T	3: 19,966,353	D170V	probably damaging	Het
Cpne9	A	G	6: 113,290,001	K132E	possibly damaging	Het
Cyp2b9	T	G	7: 26,198,443	L224R	probably damaging	Het
Dmxl1	A	G	18: 49,848,761	N153S	probably benign	Het
Dnah17	T	C	11: 118,073,683	Y2423C	probably damaging	Het
Dnajc14	G	T	10: 128,806,205		probably benign	Het
Eipr1	A	T	12: 28,859,373	D213V	probably damaging	Het
Fat1	T	C	8: 45,023,599	V1894A	probably damaging	Het
Flrt2	G	A	12: 95,780,273	V462I	probably benign	Het
Gigyf2	A	G	1: 87,436,860	E954G	probably damaging	Het
Glis1	A	G	4: 107,634,718	H593R	probably damaging	Het
Gpr21	C	G	2: 37,517,432		probably benign	Het
Gsdmc3	A	G	15: 63,866,796	M139T	probably benign	Het
Hydin	C	T	8: 110,415,736	T749I	probably damaging	Het
Ilf3	C	T	9: 21,399,560	P620S	possibly damaging	Het
Khdc3	A	G	9: 73,102,874	T71A	possibly damaging	Het
Ms4a12	T	C	19: 11,230,443	N33S	probably benign	Het
Nisch	A	G	14: 31,186,658		probably benign	Het
Npr2	G	A	4: 43,644,150	C593Y	probably damaging	Het
Npr3	G	C	15: 11,905,149	T164R	probably benign	Het
Olfr1231	A	G	2: 89,303,340	I84T	probably benign	Het
Palld	A	G	8: 61,687,372	Y534H	probably damaging	Het
Pcdhb10	TC	T	18: 37,414,141		probably null	Het
Plekhg3	A	C	12: 76,577,764	T1127P	probably damaging	Het
Podnl1	A	T	8: 84,130,665	H301L	probably benign	Het
Ripk2	A	G	4: 16,124,511	V399A	probably benign	Het
Sin3b	C	T	8: 72,739,779	A291V	probably benign	Het
Slc12a6	A	T	2: 112,335,888	Q204L	possibly damaging	Het
Snx9	C	T	17: 5,908,394	T249M	probably damaging	Het
Sohlh2	C	A	3: 55,197,002	T264K	probably damaging	Het
Srrm2	A	G	17: 23,810,468		probably benign	Het
Syne2	T	A	12: 76,106,060	H6674Q	probably benign	Het
Tyw1	T	A	5: 130,335,232		probably null	Het
Vmn1r115	C	T	7: 20,844,282	R235K	probably benign	Het
Vmn2r50	A	C	7: 10,050,308	F80V	probably damaging	Het
Yme1l1	G	A	2: 23,175,187	R236H	probably damaging	Het

Other mutations in Rpp30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0271:Rpp30	UTSW	19	36104403	missense	probably benign
R1068:Rpp30	UTSW	19	36083738	start codon destroyed	probably null	1.00
R1375:Rpp30	UTSW	19	36101273	critical splice donor site	probably null
R1521:Rpp30	UTSW	19	36094385	missense	possibly damaging	0.95
R1720:Rpp30	UTSW	19	36094427	missense	probably damaging	1.00
R1872:Rpp30	UTSW	19	36087393	missense	probably benign	0.03
R1965:Rpp30	UTSW	19	36089149	missense	probably damaging	1.00
R1966:Rpp30	UTSW	19	36089149	missense	probably damaging	1.00
R5576:Rpp30	UTSW	19	36101851	missense	probably benign	0.00
R5633:Rpp30	UTSW	19	36086990	missense	probably damaging	1.00
R6293:Rpp30	UTSW	19	36104445	makesense	probably null
R7437:Rpp30	UTSW	19	36104438	missense	possibly damaging	0.92
R7699:Rpp30	UTSW	19	36089158	missense	probably benign	0.00
R7700:Rpp30	UTSW	19	36089158	missense	probably benign	0.00
R8404:Rpp30	UTSW	19	36089203	missense	probably damaging	1.00
R8427:Rpp30	UTSW	19	36094412	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