Mutagenetix > Incidental Mutation

Incidental Mutation 'P0005:Rrp9'

7597

Institutional Source

Beutler Lab

Gene Symbol

Rrp9

Ensembl Gene

ENSMUSG00000041506

Gene Name

ribosomal RNA processing 9, U3 small nucleolar RNA binding protein

Synonyms

Rnu3ip2, D9Wsu10e, 55kDa, U3-55k

MMRRC Submission

038262-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

P0005 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

106354508-106362614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106358376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 101 (R101H)

Ref Sequence

ENSEMBL: ENSMUSP00000038580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047721] [ENSMUST00000067218] [ENSMUST00000112479] [ENSMUST00000123555] [ENSMUST00000125850] [ENSMUST00000185336] [ENSMUST00000214682]

AlphaFold

Q91WM3

Predicted Effect

probably benign
Transcript: ENSMUST00000047721
AA Change: R101H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038580
Gene: ENSMUSG00000041506
AA Change: R101H

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
low complexity region	47	57	N/A	INTRINSIC
coiled coil region	61	102	N/A	INTRINSIC
WD40	135	174	1.15e-4	SMART
WD40	177	227	3.09e-5	SMART
WD40	230	269	2.42e-7	SMART
WD40	272	311	9.24e-4	SMART
WD40	313	351	2.4e-2	SMART
WD40	354	404	4.6e0	SMART
Blast:WD40	412	451	1e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000067218

SMART Domains

Protein: ENSMUSP00000064513
Gene: ENSMUSG00000023249

Domain	Start	End	E-Value	Type
WGR	64	141	1.83e-37	SMART
Pfam:PARP_reg	176	315	8.7e-39	PFAM
Pfam:PARP	317	528	7.1e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000112479

SMART Domains

Protein: ENSMUSP00000108098
Gene: ENSMUSG00000023249

Domain	Start	End	E-Value	Type
WGR	64	141	1.83e-37	SMART
Pfam:PARP_reg	182	319	1.3e-42	PFAM
Pfam:PARP	322	533	7.3e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123464

Predicted Effect

probably benign
Transcript: ENSMUST00000123555

SMART Domains

Protein: ENSMUSP00000123054
Gene: ENSMUSG00000023249

Domain	Start	End	E-Value	Type
WGR	64	141	1.83e-37	SMART
Pfam:PARP_reg	176	315	8.7e-39	PFAM
Pfam:PARP	317	528	7.1e-62	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125630

Predicted Effect

probably benign
Transcript: ENSMUST00000125850

SMART Domains

Protein: ENSMUSP00000119244
Gene: ENSMUSG00000023249

Domain	Start	End	E-Value	Type
WGR	64	141	1.83e-37	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156796

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217303

Predicted Effect

probably benign
Transcript: ENSMUST00000185336

Predicted Effect

probably benign
Transcript: ENSMUST00000214682

Meta Mutation Damage Score

0.1866

Coding Region Coverage

1x: 85.5%
3x: 80.5%
10x: 66.1%
20x: 49.6%

Validation Efficiency

95% (104/109)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]

Allele List at MGI

All alleles(3) : Targeted(1) Gene trapped(2)

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a1	T	C	8: 70,256,397 (GRCm39)	V845A	possibly damaging	Het
Casp6	T	C	3: 129,705,792 (GRCm39)	V153A	probably benign	Het
Col6a1	A	G	10: 76,553,163 (GRCm39)		probably benign	Het
Dars2	A	G	1: 160,881,509 (GRCm39)		probably null	Het
Hmgcll1	T	A	9: 75,982,041 (GRCm39)	M162K	possibly damaging	Het
Hydin	A	T	8: 111,220,921 (GRCm39)		probably null	Het
Ift74	A	G	4: 94,550,813 (GRCm39)		probably benign	Het
Itpr1	A	T	6: 108,358,218 (GRCm39)	I595F	probably damaging	Het
Mgat4f	T	A	1: 134,315,646 (GRCm39)	M15K	probably benign	Het
Mmp17	T	C	5: 129,673,695 (GRCm39)	V258A	probably benign	Het
Nek6	T	C	2: 38,459,749 (GRCm39)		probably null	Het
Nomo1	A	T	7: 45,686,981 (GRCm39)		probably null	Het
Nudt3	A	G	17: 27,815,689 (GRCm39)		probably benign	Het
Pramel32	A	G	4: 88,546,187 (GRCm39)	L385P	probably damaging	Het
Prkg2	A	C	5: 99,117,806 (GRCm39)	F512V	probably damaging	Het
Ptp4a3	T	A	15: 73,627,160 (GRCm39)	D72E	possibly damaging	Het
Rpgrip1l	A	T	8: 92,025,853 (GRCm39)		probably benign	Het
Slc7a6os	T	C	8: 106,931,154 (GRCm39)	I161V	probably benign	Het
Tex15	T	C	8: 34,060,896 (GRCm39)	F109L	probably benign	Het
Tns2	A	G	15: 102,022,491 (GRCm39)	Q1188R	probably damaging	Het

Other mutations in Rrp9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02383:Rrp9	APN	9	106,362,471 (GRCm39)	missense	probably damaging	0.99
IGL02540:Rrp9	APN	9	106,360,746 (GRCm39)	unclassified	probably benign
IGL02581:Rrp9	APN	9	106,360,827 (GRCm39)	missense	probably damaging	1.00
R1757:Rrp9	UTSW	9	106,360,203 (GRCm39)	missense	probably damaging	0.99
R5585:Rrp9	UTSW	9	106,362,525 (GRCm39)	missense	probably benign	0.35
R6135:Rrp9	UTSW	9	106,360,221 (GRCm39)	missense	probably damaging	1.00
R6437:Rrp9	UTSW	9	106,360,150 (GRCm39)	missense	probably benign	0.34
R6575:Rrp9	UTSW	9	106,360,778 (GRCm39)	missense	probably damaging	0.99
R7878:Rrp9	UTSW	9	106,358,516 (GRCm39)	missense	probably damaging	1.00
R8732:Rrp9	UTSW	9	106,360,388 (GRCm39)	missense	probably benign	0.15
R8745:Rrp9	UTSW	9	106,361,657 (GRCm39)	missense	possibly damaging	0.82
R9454:Rrp9	UTSW	9	106,360,840 (GRCm39)	missense	possibly damaging	0.69
Z1177:Rrp9	UTSW	9	106,360,999 (GRCm39)	missense	probably damaging	1.00

Protein Function and Prediction

Rrp9 has been identified in yeast (Rrp9p) as a U3 protein involved in early pre-rRNA processing cleavage (1). Depletion of Rrp9p in yeast specifically inhibits the production of the 18S rRNA.

References

1. Venema, J., Vos, H. R., Faber, A. W., van Venrooij, W. J., and Raue, H. A. (2000) Yeast Rrp9p is an Evolutionarily Conserved U3 snoRNP Protein Essential for Early Pre-rRNA Processing Cleavages and Requires Box C for its Association. RNA. 6, 1660-1671.

Posted On

2012-10-05

Science Writer

Anne Murray