Mutagenetix > Incidental Mutation

Incidental Mutation 'R8404:Rpp30'

652334

Institutional Source

Beutler Lab

Gene Symbol

Rpp30

Ensembl Gene

ENSMUSG00000024800

Gene Name

ribonuclease P/MRP 30 subunit

Synonyms

Rnasep2, TSG15

MMRRC Submission

067764-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R8404 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36061118-36082173 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36066603 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 112 (L112P)

Ref Sequence

ENSEMBL: ENSMUSP00000025714 (fasta)

Gene Model

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

AlphaFold

O88796

Predicted Effect

probably damaging
Transcript: ENSMUST00000025714
AA Change: L112P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025714
Gene: ENSMUSG00000024800
AA Change: L112P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,110,145 (GRCm39)	L599F	probably damaging	Het
Accs	T	C	2: 93,668,460 (GRCm39)	Y337C	probably damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Apcdd1	A	T	18: 63,066,986 (GRCm39)	R33S	possibly damaging	Het
Brsk1	T	C	7: 4,709,695 (GRCm39)	S441P	probably damaging	Het
Crlf2	T	C	5: 109,704,917 (GRCm39)	D98G	probably benign	Het
Dnah10	A	G	5: 124,850,606 (GRCm39)	D1693G	probably damaging	Het
Gfm2	T	C	13: 97,299,485 (GRCm39)	I402T	probably benign	Het
Gm6899	C	G	11: 26,543,630 (GRCm39)	R66G	unknown	Het
Hira	T	G	16: 18,770,912 (GRCm39)	S850A	possibly damaging	Het
Krt10	C	T	11: 99,278,359 (GRCm39)	E267K	probably damaging	Het
Lama5	T	C	2: 179,837,015 (GRCm39)	N1074S	probably damaging	Het
Lrp2	C	T	2: 69,344,585 (GRCm39)	W844*	probably null	Het
Maml3	T	C	3: 51,598,077 (GRCm39)	Y869C	probably damaging	Het
Nap1l1	T	A	10: 111,317,162 (GRCm39)	M1K	probably null	Het
Nbeal2	C	T	9: 110,463,457 (GRCm39)	S1258N	possibly damaging	Het
Or51f5	T	A	7: 102,424,134 (GRCm39)	Y134*	probably null	Het
Pam	T	C	1: 97,823,358 (GRCm39)	Q271R	probably damaging	Het
Pced1a	T	C	2: 130,265,577 (GRCm39)		probably benign	Het
Pdcd11	T	C	19: 47,093,231 (GRCm39)	V503A	probably damaging	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pinx1	T	A	14: 64,157,063 (GRCm39)	V330D	unknown	Het
Prdm2	T	C	4: 142,861,584 (GRCm39)	I569V	probably damaging	Het
Prickle2	T	C	6: 92,397,302 (GRCm39)	D197G	probably damaging	Het
Prmt8	C	T	6: 127,666,825 (GRCm39)	C383Y	possibly damaging	Het
Prss42	T	C	9: 110,629,984 (GRCm39)	L246P	probably damaging	Het
Ptpra	C	A	2: 130,391,679 (GRCm39)	D732E	probably damaging	Het
Saraf	C	T	8: 34,632,602 (GRCm39)	P227L	probably benign	Het
Slc22a28	A	T	19: 8,108,793 (GRCm39)	C116*	probably null	Het
Slc45a2	T	C	15: 11,027,958 (GRCm39)	I509T	possibly damaging	Het
Spag7	T	C	11: 70,560,059 (GRCm39)	S17G	probably benign	Het
Trim62	A	G	4: 128,803,233 (GRCm39)	I428V	probably benign	Het
Urb2	A	G	8: 124,751,942 (GRCm39)	T92A	probably damaging	Het
Zan	A	T	5: 137,396,594 (GRCm39)	C4321S	unknown	Het
Zbtb32	G	A	7: 30,291,035 (GRCm39)	P87S	possibly damaging	Het
Zer1	C	T	2: 29,995,035 (GRCm39)		probably null	Het
Zfat	T	C	15: 67,976,916 (GRCm39)	T1078A	probably benign	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
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
R8427:Rpp30	UTSW	19	36,071,812 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGTGTTAGCTCTCGAGTGAG -3'
(R):5'- ACTGGCTTTCCCACATCAACG -3'

Sequencing Primer
(F):5'- ACTTGCAGCCAGGTGTG -3'
(R):5'- TCAACGGGCAATAACTCATCTTTC -3'

Posted On

2020-10-20