Mutagenetix > Incidental Mutation

Incidental Mutation 'R9625:Rrp15'

725075

Institutional Source

Beutler Lab

Gene Symbol

Rrp15

Ensembl Gene

ENSMUSG00000001305

Gene Name

ribosomal RNA processing 15 homolog

Synonyms

2810430M08Rik, 5430437H21Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R9625 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

186453283-186481555 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 186453718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 243 (P243Q)

Ref Sequence

ENSEMBL: ENSMUSP00000001339 (fasta)

Gene Model

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

AlphaFold

Q9CYX7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001339
AA Change: P243Q

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000001339
Gene: ENSMUSG00000001305
AA Change: P243Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	G	3: 121,465,033 (GRCm39)	E23G	unknown	Het
Abhd5	A	G	9: 122,208,606 (GRCm39)	Y332C	probably damaging	Het
Adcyap1r1	A	T	6: 55,457,055 (GRCm39)	E262V	probably damaging	Het
Adgre5	A	G	8: 84,450,658 (GRCm39)	Y793H	probably damaging	Het
Arhgef33	A	T	17: 80,654,707 (GRCm39)	Y78F	possibly damaging	Het
Asl	G	A	5: 130,047,693 (GRCm39)	A91V	probably damaging	Het
Cd40	A	T	2: 164,905,061 (GRCm39)	I126F	probably benign	Het
Ceacam10	A	G	7: 24,476,705 (GRCm39)	E2G	probably damaging	Het
Cfap46	C	T	7: 139,230,805 (GRCm39)	R941H		Het
Cntnap3	A	T	13: 65,006,579 (GRCm39)	S78T	probably damaging	Het
Cntnap4	T	C	8: 113,602,181 (GRCm39)	V1195A	possibly damaging	Het
Cthrc1	T	C	15: 38,947,874 (GRCm39)	S198P	probably damaging	Het
Dcaf7	T	G	11: 105,942,794 (GRCm39)		probably null	Het
Dhx16	A	G	17: 36,193,413 (GRCm39)	E252G	probably benign	Het
Efcab2	C	T	1: 178,302,505 (GRCm39)	T83I	possibly damaging	Het
Efhc1	A	G	1: 21,049,738 (GRCm39)	N533D	probably benign	Het
Emilin2	A	G	17: 71,581,112 (GRCm39)	V538A	probably benign	Het
Fam171b	A	T	2: 83,683,914 (GRCm39)	T144S	probably damaging	Het
Fam98a	A	G	17: 75,845,474 (GRCm39)	F424S	unknown	Het
Gm3573	T	C	14: 42,011,605 (GRCm39)	R42G	possibly damaging	Het
Gpr143	GTTTTTT	GTTTTTTT	X: 151,578,627 (GRCm39)		probably null	Het
H2-K2	G	A	17: 34,218,975 (GRCm39)	P23S	probably benign	Het
Hormad2	G	A	11: 4,377,372 (GRCm39)	P22L	probably damaging	Het
Hoxb1	C	T	11: 96,256,810 (GRCm39)	A53V	probably benign	Het
Kalrn	T	A	16: 33,849,197 (GRCm39)		probably null	Het
Kdm2a	C	T	19: 4,393,141 (GRCm39)	D405N		Het
Kif1a	C	T	1: 93,000,766 (GRCm39)	E287K	probably benign	Het
Lrrk1	A	T	7: 65,909,666 (GRCm39)	*2015K	probably null	Het
Ltbp1	G	T	17: 75,486,157 (GRCm39)	G61C	probably damaging	Het
Mthfd2l	A	G	5: 91,107,567 (GRCm39)	H143R	probably damaging	Het
Myo1d	C	A	11: 80,448,296 (GRCm39)	G943V	possibly damaging	Het
Ncoa1	T	A	12: 4,345,643 (GRCm39)	Q568L	probably damaging	Het
Ncoa3	G	A	2: 165,899,130 (GRCm39)	S824N	probably benign	Het
Nfe2l3	A	T	6: 51,434,925 (GRCm39)	D495V	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlrp14	A	G	7: 106,782,169 (GRCm39)	I455M	probably benign	Het
Npb	T	C	11: 120,499,375 (GRCm39)	L14P	probably damaging	Het
Or51f1	C	T	7: 102,505,636 (GRCm39)	M284I	probably benign	Het
P2ry12	G	A	3: 59,125,496 (GRCm39)	R60C	possibly damaging	Het
Pcdhb17	T	A	18: 37,619,419 (GRCm39)	L403*	probably null	Het
Phb2	G	A	6: 124,690,974 (GRCm39)	R44H	probably damaging	Het
Plekha5	A	T	6: 140,372,253 (GRCm39)	T68S	probably benign	Het
Ptprg	C	T	14: 12,152,027 (GRCm38)	R447W	probably damaging	Het
Ptprk	T	C	10: 28,462,006 (GRCm39)	Y1190H	probably damaging	Het
Ptpro	G	T	6: 137,371,873 (GRCm39)	C630F	probably damaging	Het
Smurf1	A	G	5: 144,830,920 (GRCm39)	F285S	possibly damaging	Het
Spata13	C	T	14: 60,944,349 (GRCm39)	P581S	probably benign	Het
Tex44	T	C	1: 86,354,253 (GRCm39)	I54T	unknown	Het
Tom1l2	A	G	11: 60,161,277 (GRCm39)	V78A	probably damaging	Het
Vps11	A	G	9: 44,265,738 (GRCm39)	W514R	probably damaging	Het
Wnk2	C	A	13: 49,254,445 (GRCm39)	V357L	probably benign	Het
Zfp970	C	T	2: 177,167,790 (GRCm39)	Q455*	probably null	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
R6396:Rrp15	UTSW	1	186,469,783 (GRCm39)	critical splice donor site	probably null
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

Predicted Primers

PCR Primer
(F):5'- AGGAAGTCCTAGCATTTGGC -3'
(R):5'- GTGATGCCAAATCTGTATTTTCCC -3'

Sequencing Primer
(F):5'- AGGAAGTCCTAGCATTTGGCAGATG -3'
(R):5'- GCCAAATCTGTATTTTCCCCAACTC -3'

Posted On

2022-09-12