Mutagenetix > Incidental Mutations

Incidental Mutation 'R5576:Rpp30'

437240

Institutional Source

Beutler Lab

Gene Symbol

Rpp30

Ensembl Gene

ENSMUSG00000024800

Gene Name

ribonuclease P/MRP 30 subunit

Synonyms

TSG15, Rnasep2

MMRRC Submission

043131-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R5576 (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 36101851 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 216 (D216E)

Ref Sequence

ENSEMBL: ENSMUSP00000025714 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000025714
AA Change: D216E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025714
Gene: ENSMUSG00000024800
AA Change: D216E

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,737,704	T96I	probably benign	Het
Add2	G	T	6: 86,107,475		probably null	Het
Agbl1	C	T	7: 76,335,237	T134M	probably benign	Het
Agfg1	T	A	1: 82,870,724	S32T	probably benign	Het
Ankrd17	A	C	5: 90,243,224	S2087A	probably benign	Het
Apob	A	T	12: 7,998,662	E1012V	probably damaging	Het
Baiap2	T	A	11: 119,996,911	V297E	probably benign	Het
BC034090	T	G	1: 155,241,468	K301N	probably benign	Het
Bhlha9	T	C	11: 76,672,769	I74T	probably damaging	Het
Btnl9	T	C	11: 49,178,885	H189R	probably benign	Het
Ccdc122	G	A	14: 77,091,877	M123I	probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dnah9	T	C	11: 65,834,096		probably null	Het
Dnaja2	A	T	8: 85,539,404	L351I	possibly damaging	Het
Efcab6	C	A	15: 83,950,000	S469I	probably benign	Het
Esp15	C	A	17: 39,642,673	T17K	probably damaging	Het
Fads1	A	G	19: 10,185,874	T172A	probably benign	Het
Fbp2	A	T	13: 62,837,191	D305E	probably benign	Het
Golga4	A	G	9: 118,553,534	T541A	probably benign	Het
Herc3	T	C	6: 58,888,725	Y768H	probably benign	Het
Kmt2a	A	G	9: 44,842,634	V514A	possibly damaging	Het
Melk	A	G	4: 44,312,255	E141G	probably null	Het
Nln	A	G	13: 104,058,830	Y245H	probably damaging	Het
Nrap	C	T	19: 56,321,982	R1563H	probably damaging	Het
Olfr854	T	A	9: 19,567,073	M101L	probably benign	Het
Olfr907	A	C	9: 38,498,908	K80Q	probably damaging	Het
Pde4b	T	A	4: 102,430,162	I34N	probably damaging	Het
Pex11g	A	G	8: 3,465,875	S53P	probably damaging	Het
Pole	A	T	5: 110,312,065	K1112*	probably null	Het
Ppfia4	T	G	1: 134,323,050	D184A	possibly damaging	Het
Sbno2	C	T	10: 80,067,337	A398T	probably damaging	Het
Sbp	T	A	17: 23,945,578	S94T	probably benign	Het
Skp1a	T	G	11: 52,242,588	D33E	possibly damaging	Het
Slc17a8	A	G	10: 89,597,502	W220R	probably damaging	Het
Slfn9	A	T	11: 82,981,432	M826K	probably benign	Het
Snx2	A	G	18: 53,210,750	K322E	probably benign	Het
Spata32	T	A	11: 103,209,827	N38I	possibly damaging	Het
Sycp1	T	C	3: 102,818,902	R969G	probably damaging	Het
Tcrg-C2	T	C	13: 19,305,131	I144V	probably benign	Het
Trpc1	A	G	9: 95,721,324	L385S	probably damaging	Het
Vmn2r105	C	T	17: 20,224,574		probably null	Het
Xrcc6	T	A	15: 82,022,492	D79E	probably damaging	Het
Zan	A	T	5: 137,428,482	C2467*	probably null	Het
Zfp26	A	G	9: 20,437,507	V587A	possibly damaging	Het
Zfp553	C	T	7: 127,236,703	R477C	possibly 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
R4412:Rpp30	UTSW	19	36100255	missense	possibly damaging	0.95
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'- CCTGGTGTTTGGATTAAGCAGC -3'
(R):5'- AGAACTGGTTGAGAAGACACCC -3'

Sequencing Primer
(F):5'- AACAGTTAATTGAGACTTCTTGGGTG -3'
(R):5'- CTGGTTGAGAAGACACCCTTATAAG -3'

Posted On

2016-10-26