Mutagenetix > Incidental Mutation

Incidental Mutation 'R6396:Rrp15'

515990

Institutional Source

Beutler Lab

Gene Symbol

Rrp15

Ensembl Gene

ENSMUSG00000001305

Gene Name

ribosomal RNA processing 15 homolog

Synonyms

2810430M08Rik, 5430437H21Rik

MMRRC Submission

044544-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R6396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

186453283-186481555 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 186469783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000001339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001339]

AlphaFold

Q9CYX7

Predicted Effect

probably null
Transcript: ENSMUST00000001339

SMART Domains

Protein: ENSMUSP00000001339
Gene: ENSMUSG00000001305

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
low complexity region	43	69	N/A	INTRINSIC
low complexity region	72	86	N/A	INTRINSIC
Pfam:Rrp15p	92	215	3e-32	PFAM
low complexity region	264	279	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162336

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 97.9%

Validation Efficiency

100% (36/36)

MGI Phenotype

FUNCTION: This gene encodes a protein similar to budding yeast Rrp15p. Rrp15p is a component of pre-60S ribosomal particles in budding yeast, and is required for the early maturation steps of the 60S subunit. The mouse genome contains at least one pseudogene on the X chromosome. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap35	A	T	7: 16,296,224 (GRCm39)	I947K	probably damaging	Het
B3galnt2	A	T	13: 14,170,333 (GRCm39)	I447F	probably damaging	Het
Cacna2d3	C	A	14: 29,118,522 (GRCm39)	V134L	probably benign	Het
Clcn4	C	T	7: 7,297,024 (GRCm39)	G145S	probably damaging	Het
Cndp1	A	T	18: 84,650,135 (GRCm39)	M186K	probably benign	Het
Cntn6	A	G	6: 104,627,461 (GRCm39)	Y98C	probably damaging	Het
Ctsb	T	C	14: 63,375,550 (GRCm39)	V172A	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dyrk1a	C	A	16: 94,472,299 (GRCm39)	Q230K	probably damaging	Het
Ech1	C	T	7: 28,529,763 (GRCm39)		probably null	Het
Fam81b	T	A	13: 76,399,968 (GRCm39)	R97W	probably damaging	Het
Heatr1	A	G	13: 12,420,978 (GRCm39)	E423G	possibly damaging	Het
Hydin	A	T	8: 111,233,521 (GRCm39)	K1786N	probably damaging	Het
Igf2r	T	C	17: 12,932,977 (GRCm39)	I848M	probably benign	Het
Igkv10-96	G	A	6: 68,608,969 (GRCm39)	Q109*	probably null	Het
Mup6	T	C	4: 60,004,837 (GRCm39)	I76T	possibly damaging	Het
Nmt2	A	G	2: 3,315,738 (GRCm39)	R243G	probably benign	Het
Nsd1	G	A	13: 55,386,602 (GRCm39)	G119D	probably damaging	Het
Or1ad8	A	G	11: 50,898,312 (GRCm39)	H171R	possibly damaging	Het
Or4c113	A	G	2: 88,885,641 (GRCm39)	I43T	probably benign	Het
Or4c120	T	G	2: 89,001,034 (GRCm39)	D174A	probably damaging	Het
Or51ab3	C	T	7: 103,201,888 (GRCm39)	Q299*	probably null	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pank3	T	C	11: 35,669,516 (GRCm39)	V250A	probably damaging	Het
Pcdh10	A	G	3: 45,334,495 (GRCm39)	I270V	possibly damaging	Het
Pnp2	T	A	14: 51,200,616 (GRCm39)	V94E	probably damaging	Het
Prdm10	T	C	9: 31,229,842 (GRCm39)	V86A	possibly damaging	Het
Resf1	A	G	6: 149,229,417 (GRCm39)	D821G	probably damaging	Het
Riox1	G	A	12: 83,998,087 (GRCm39)	D208N	possibly damaging	Het
Skor1	G	T	9: 63,052,232 (GRCm39)	P579Q	probably damaging	Het
Slc44a4	T	A	17: 35,147,860 (GRCm39)	Y481*	probably null	Het
Smg7	A	T	1: 152,724,351 (GRCm39)	V610E	probably benign	Het
Tlx1	A	G	19: 45,144,491 (GRCm39)	Q71R	probably damaging	Het
Vmn2r27	A	T	6: 124,201,125 (GRCm39)	Y277*	probably null	Het
Zswim2	T	A	2: 83,754,062 (GRCm39)	R199S	probably damaging	Het

Other mutations in Rrp15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00587:Rrp15	APN	1	186,453,745 (GRCm39)	critical splice acceptor site	probably null
IGL02285:Rrp15	APN	1	186,453,592 (GRCm39)	utr 3 prime	probably benign
R0413:Rrp15	UTSW	1	186,481,346 (GRCm39)	splice site	probably benign
R0548:Rrp15	UTSW	1	186,468,431 (GRCm39)	missense	probably benign	0.01
R1449:Rrp15	UTSW	1	186,468,465 (GRCm39)	missense	possibly damaging	0.61
R1966:Rrp15	UTSW	1	186,468,402 (GRCm39)	missense	possibly damaging	0.46
R5318:Rrp15	UTSW	1	186,453,743 (GRCm39)	missense	probably benign	0.00
R5982:Rrp15	UTSW	1	186,471,952 (GRCm39)	missense	possibly damaging	0.93
R6287:Rrp15	UTSW	1	186,481,373 (GRCm39)	missense	probably benign	0.12
R7176:Rrp15	UTSW	1	186,453,730 (GRCm39)	missense	probably benign	0.02
R7822:Rrp15	UTSW	1	186,481,373 (GRCm39)	missense	probably benign	0.40
R8911:Rrp15	UTSW	1	186,453,641 (GRCm39)	missense	unknown
R9210:Rrp15	UTSW	1	186,471,922 (GRCm39)	missense	probably damaging	1.00
R9429:Rrp15	UTSW	1	186,481,368 (GRCm39)	missense	probably benign	0.15
R9625:Rrp15	UTSW	1	186,453,718 (GRCm39)	missense	possibly damaging	0.72

Predicted Primers

PCR Primer
(F):5'- AGCGACCCAAGCAGATTCAG -3'
(R):5'- AGGGTGCTTTATTACCTCCGTC -3'

Sequencing Primer
(F):5'- GATTCAGATCAAATACACACTCGGTG -3'
(R):5'- ACAGATCCTATCAGAGTTTGCTGC -3'

Posted On

2018-05-04