Mutagenetix > Incidental Mutation

Incidental Mutation 'R8732:Rrp9'

662817

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

068580-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R8732 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106354508-106362614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106360388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 238 (T238K)

Ref Sequence

ENSEMBL: ENSMUSP00000038580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047721] [ENSMUST00000185336]

AlphaFold

Q91WM3

Predicted Effect

probably benign
Transcript: ENSMUST00000047721
AA Change: T238K

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000038580
Gene: ENSMUSG00000041506
AA Change: T238K

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: ENSMUST00000185336

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.0%

Validation Efficiency

98% (63/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adtrp	A	T	13: 41,981,622 (GRCm39)	N82K	probably damaging	Het
Ankrd36	T	A	11: 5,578,906 (GRCm39)	S57T	possibly damaging	Het
Aoc3	A	G	11: 101,222,643 (GRCm39)	N293S	probably benign	Het
Aup1	A	T	6: 83,033,602 (GRCm39)	H302L	probably damaging	Het
Bptf	G	A	11: 106,931,206 (GRCm39)	R277W	probably damaging	Het
Cald1	A	G	6: 34,734,946 (GRCm39)	I346V	unknown	Het
Cd44	T	C	2: 102,664,645 (GRCm39)	T519A	possibly damaging	Het
Cela1	A	G	15: 100,580,766 (GRCm39)		probably null	Het
Ces2g	T	C	8: 105,689,195 (GRCm39)	V57A	possibly damaging	Het
Cpt1b	G	C	15: 89,308,628 (GRCm39)	T100S	probably benign	Het
D6Wsu163e	A	T	6: 126,932,859 (GRCm39)	I361F	possibly damaging	Het
Dock5	A	T	14: 68,083,449 (GRCm39)	D153E	possibly damaging	Het
Dync2h1	G	T	9: 7,168,326 (GRCm39)	R430S	probably damaging	Het
Dync2i2	T	A	2: 29,922,220 (GRCm39)	T414S	possibly damaging	Het
Efcab3	T	A	11: 104,695,100 (GRCm39)	F1730L	probably benign	Het
Eml5	C	T	12: 98,782,218 (GRCm39)	G1405R	probably damaging	Het
Ergic2	G	A	6: 148,102,975 (GRCm39)	A91V	probably damaging	Het
Fancl	A	T	11: 26,419,754 (GRCm39)	I336L	probably benign	Het
Fpr3	A	G	17: 18,191,223 (GRCm39)	T165A	possibly damaging	Het
Gon4l	A	G	3: 88,807,291 (GRCm39)	I1662V	possibly damaging	Het
Gpr153	C	T	4: 152,363,558 (GRCm39)		probably benign	Het
Hdac4	C	A	1: 91,875,239 (GRCm39)	A911S	probably damaging	Het
Ighd	T	C	12: 113,378,183 (GRCm39)	N139D		Het
Klhl22	T	A	16: 17,589,690 (GRCm39)	L117Q	probably damaging	Het
Kntc1	A	G	5: 123,928,180 (GRCm39)	S1226G	probably benign	Het
Lama5	A	T	2: 179,828,481 (GRCm39)	C2126S	probably damaging	Het
Ldlr	A	G	9: 21,650,985 (GRCm39)	I468V	probably benign	Het
Lmtk3	G	A	7: 45,447,712 (GRCm39)	A1253T	unknown	Het
Lta	T	A	17: 35,423,045 (GRCm39)	N93Y	probably damaging	Het
Macf1	A	T	4: 123,403,563 (GRCm39)		probably null	Het
Mink1	A	G	11: 70,500,902 (GRCm39)		probably null	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Ntpcr	A	G	8: 126,472,074 (GRCm39)	M132V	probably benign	Het
Or14a257	A	G	7: 86,138,061 (GRCm39)	S233P	probably damaging	Het
Or52n1	A	G	7: 104,383,115 (GRCm39)	M152T	probably benign	Het
Or7g32	T	C	9: 19,408,098 (GRCm39)	I18T	probably benign	Het
Padi2	A	G	4: 140,660,590 (GRCm39)	I357V	probably benign	Het
Pax7	G	T	4: 139,506,920 (GRCm39)	H372Q	probably benign	Het
Paxip1	A	G	5: 27,949,541 (GRCm39)	Y966H	probably damaging	Het
Pde4b	A	C	4: 102,412,822 (GRCm39)	D199A	probably null	Het
Pkd1l2	T	C	8: 117,792,311 (GRCm39)	N494D	probably benign	Het
Prdm2	G	T	4: 142,862,580 (GRCm39)	Q237K	probably benign	Het
Prune2	T	C	19: 17,097,769 (GRCm39)	L1091P	probably damaging	Het
Rab9	C	T	X: 165,240,754 (GRCm39)	D186N	probably benign	Het
Rassf5	A	G	1: 131,106,264 (GRCm39)	*414Q	probably null	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Slc44a2	A	G	9: 21,259,882 (GRCm39)	D630G	probably benign	Het
Slc7a9	A	G	7: 35,156,443 (GRCm39)	D295G	probably benign	Het
Slco3a1	A	T	7: 73,934,054 (GRCm39)	M706K	possibly damaging	Het
Spag9	T	C	11: 93,962,514 (GRCm39)		probably null	Het
Stam2	A	T	2: 52,590,180 (GRCm39)	Y394N	probably damaging	Het
Stard9	T	C	2: 120,510,442 (GRCm39)	L341P	probably damaging	Het
Steap3	A	T	1: 120,171,624 (GRCm39)	H160Q	probably damaging	Het
Stxbp5l	A	T	16: 37,061,809 (GRCm39)	C334S	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tmem74	A	T	15: 43,731,456 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,537,480 (GRCm39)	K34816R	possibly damaging	Het
Ttn	T	A	2: 76,627,735 (GRCm39)	N14736I	probably damaging	Het
Vmn1r183	A	G	7: 23,754,890 (GRCm39)	Q231R	possibly damaging	Het
Vmn1r235	A	G	17: 21,482,439 (GRCm39)	T255A	probably damaging	Het
Wasl	A	T	6: 24,619,209 (GRCm39)	I437K	unknown	Het
Ywhae	A	G	11: 75,642,769 (GRCm39)	N43D	probably damaging	Het
Zfp583	A	T	7: 6,320,210 (GRCm39)	Y267*	probably null	Het
Zfp608	C	T	18: 55,121,072 (GRCm39)	G172R	probably benign	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
P0005:Rrp9	UTSW	9	106,358,376 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGATGGCAAGTACCTCGTAAG -3'
(R):5'- TTGCCTGTCCTCAAACAGC -3'

Sequencing Primer
(F):5'- CAAGTACCTCGTAAGACTGGGTTG -3'
(R):5'- AGCTGAACCTGGTCTCCC -3'

Posted On

2021-03-08