Mutagenetix > Incidental Mutation

Incidental Mutation 'R9273:Rbbp5'

703062

Institutional Source

Beutler Lab

Gene Symbol

Rbbp5

Ensembl Gene

ENSMUSG00000026439

Gene Name

retinoblastoma binding protein 5, histone lysine methyltransferase complex subunit

Synonyms

4933411J24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R9273 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132405103-132433397 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132420304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 179 (K179R)

Ref Sequence

ENSEMBL: ENSMUSP00000141003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027700] [ENSMUST00000187505] [ENSMUST00000188575] [ENSMUST00000189786] [ENSMUST00000190825] [ENSMUST00000190997]

AlphaFold

Q8BX09

Predicted Effect

probably benign
Transcript: ENSMUST00000027700
AA Change: K52R

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

SMART Domains

Protein: ENSMUSP00000027700
Gene: ENSMUSG00000026439
AA Change: K52R

Domain	Start	End	E-Value	Type
WD40	14	52	2.31e-1	SMART
WD40	55	94	7.33e-7	SMART
Blast:WD40	97	177	2e-31	BLAST
WD40	182	226	8.29e-1	SMART
WD40	241	280	1.28e1	SMART
WD40	283	322	2.97e0	SMART
low complexity region	344	358	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187505
AA Change: K52R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000141176
Gene: ENSMUSG00000026439
AA Change: K52R

Domain	Start	End	E-Value	Type
Blast:WD40	1	52	9e-13	BLAST
WD40	55	99	5.1e-3	SMART
WD40	114	153	7.9e-2	SMART
WD40	156	195	1.9e-2	SMART
low complexity region	217	231	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000188575

SMART Domains

Protein: ENSMUSP00000140344
Gene: ENSMUSG00000026439

Domain	Start	End	E-Value	Type
Blast:WD40	14	55	9e-9	BLAST
SCOP:d1gxra_	34	87	8e-8	SMART
Blast:WD40	58	107	8e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000189786

SMART Domains

Protein: ENSMUSP00000140790
Gene: ENSMUSG00000026439

Domain	Start	End	E-Value	Type
WD40	1	27	1.2e0	SMART
WD40	30	69	4.6e-9	SMART
Blast:WD40	72	149	2e-32	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000190825
AA Change: K179R

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

SMART Domains

Protein: ENSMUSP00000139519
Gene: ENSMUSG00000026439
AA Change: K179R

Domain	Start	End	E-Value	Type
WD40	14	52	1.4e-3	SMART
WD40	55	94	4.6e-9	SMART
Blast:WD40	97	177	2e-31	BLAST
WD40	182	226	5.1e-3	SMART
WD40	241	280	7.9e-2	SMART
WD40	283	322	1.9e-2	SMART
low complexity region	344	358	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190997
AA Change: K179R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141003
Gene: ENSMUSG00000026439
AA Change: K179R

Domain	Start	End	E-Value	Type
WD40	14	52	2.31e-1	SMART
WD40	55	94	7.33e-7	SMART
Blast:WD40	97	177	2e-31	BLAST
WD40	182	226	8.29e-1	SMART
WD40	241	280	1.28e1	SMART
WD40	283	322	2.97e0	SMART
low complexity region	344	358	N/A	INTRINSIC

Meta Mutation Damage Score

0.1040

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,033,232 (GRCm39)	D728G	probably benign	Het
Adig	A	T	2: 158,347,727 (GRCm39)	D48V	probably damaging	Het
Adig	A	C	2: 158,349,890 (GRCm39)	*57S	probably null	Het
Amigo3	A	G	9: 107,932,020 (GRCm39)	D481G	probably damaging	Het
Atf6b	T	A	17: 34,872,968 (GRCm39)	M628K	probably damaging	Het
Atoh8	A	G	6: 72,212,129 (GRCm39)	L7P	probably damaging	Het
Bcl9	A	G	3: 97,115,959 (GRCm39)	S912P	probably damaging	Het
Card9	T	A	2: 26,247,310 (GRCm39)	I280F	probably damaging	Het
Ccr9	A	G	9: 123,609,085 (GRCm39)	T256A	probably benign	Het
Cd300lg	T	C	11: 101,939,590 (GRCm39)	I306T	probably damaging	Het
Cfap65	T	A	1: 74,960,769 (GRCm39)	M734L	probably benign	Het
Cobll1	A	G	2: 64,929,356 (GRCm39)	S657P	probably damaging	Het
Comp	A	G	8: 70,831,285 (GRCm39)	N384S	probably damaging	Het
Cps1	T	A	1: 67,191,445 (GRCm39)	V209D	possibly damaging	Het
Cwc22	A	T	2: 77,759,803 (GRCm39)	D81E	possibly damaging	Het
D630045J12Rik	G	A	6: 38,167,512 (GRCm39)	P1030L	possibly damaging	Het
Dcn	A	G	10: 97,343,637 (GRCm39)	Y199C	probably damaging	Het
Exosc3	A	T	4: 45,316,969 (GRCm39)	I228N	probably damaging	Het
Fbxo10	T	C	4: 45,062,178 (GRCm39)	H116R	probably benign	Het
Fbxo21	T	A	5: 118,146,108 (GRCm39)	I577N	probably damaging	Het
Flnc	A	T	6: 29,447,815 (GRCm39)	Q1206L	probably benign	Het
Fubp3	T	C	2: 31,503,056 (GRCm39)	F480L	probably benign	Het
Fzd5	T	C	1: 64,775,110 (GRCm39)	N217S	possibly damaging	Het
Garem1	G	A	18: 21,281,274 (GRCm39)	R361C	probably damaging	Het
Gcg	T	C	2: 62,306,133 (GRCm39)	M155V	probably null	Het
Gm7298	G	A	6: 121,756,604 (GRCm39)		probably benign	Het
Gpr160	T	A	3: 30,950,038 (GRCm39)	L37I	probably benign	Het
Grik1	G	A	16: 87,848,379 (GRCm39)	H130Y		Het
Hydin	T	A	8: 111,233,580 (GRCm39)	I1806N	probably damaging	Het
Isl1	A	T	13: 116,444,902 (GRCm39)	C42*	probably null	Het
Itpr2	T	C	6: 146,226,529 (GRCm39)	D1405G	probably damaging	Het
Kat6b	A	G	14: 21,711,551 (GRCm39)	N682D	probably benign	Het
Kcnh6	C	G	11: 105,924,860 (GRCm39)	H941Q	possibly damaging	Het
Kprp	A	C	3: 92,733,000 (GRCm39)	C17G	probably damaging	Het
Lsm14a	T	C	7: 34,088,225 (GRCm39)		probably benign	Het
Mrgpra2a	G	T	7: 47,076,307 (GRCm39)	T317K	probably benign	Het
Myh11	A	G	16: 14,054,283 (GRCm39)	V360A		Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Oaf	G	A	9: 43,133,966 (GRCm39)	P252S	probably benign	Het
Obox2	T	G	7: 15,131,290 (GRCm39)	V132G	unknown	Het
Or51v8	T	A	7: 103,319,633 (GRCm39)	T202S	probably benign	Het
Or52b1	A	G	7: 104,978,646 (GRCm39)	L251P	probably damaging	Het
Or5b109	C	T	19: 13,212,268 (GRCm39)	S218L	probably damaging	Het
Or5b12	T	C	19: 12,897,446 (GRCm39)	T76A	possibly damaging	Het
Pld2	T	A	11: 70,448,234 (GRCm39)	S894T	probably benign	Het
Plxna1	G	T	6: 89,296,364 (GRCm39)	S1893R	possibly damaging	Het
Prkd1	T	C	12: 50,472,232 (GRCm39)	E227G	possibly damaging	Het
Prox1	T	C	1: 189,893,242 (GRCm39)	N401S	possibly damaging	Het
Prune2	T	C	19: 17,095,690 (GRCm39)	V398A	possibly damaging	Het
Rasgef1a	A	G	6: 118,063,223 (GRCm39)	N285D	probably benign	Het
Rp9	G	A	9: 22,379,573 (GRCm39)		probably benign	Het
Slc15a2	A	G	16: 36,574,090 (GRCm39)	F588L	probably benign	Het
Sptan1	T	A	2: 29,880,977 (GRCm39)	D415E	possibly damaging	Het
Syne1	T	C	10: 4,990,901 (GRCm39)	K593E	probably benign	Het
Tab1	A	G	15: 80,041,904 (GRCm39)	T341A	probably benign	Het
Tmc4	T	C	7: 3,670,552 (GRCm39)	E513G	probably damaging	Het
Tmem131l	A	C	3: 83,848,244 (GRCm39)	V302G	probably damaging	Het
Tnip1	G	A	11: 54,807,783 (GRCm39)	H553Y	possibly damaging	Het
Tns2	C	T	15: 102,021,478 (GRCm39)	P1048S	probably damaging	Het
Twsg1	C	T	17: 66,233,306 (GRCm39)	V215I	probably damaging	Het
Txnl1	G	A	18: 63,825,325 (GRCm39)		probably benign	Het
Unc13c	A	G	9: 73,839,862 (GRCm39)	Y330H	possibly damaging	Het
Utrn	A	T	10: 12,509,707 (GRCm39)	W2422R	probably damaging	Het
Vmn2r112	T	A	17: 22,837,721 (GRCm39)	D727E	probably damaging	Het
Vmn2r59	G	T	7: 41,695,286 (GRCm39)	C375*	probably null	Het
Vopp1	G	T	6: 57,731,575 (GRCm39)	Q139K	possibly damaging	Het
Vwa5b1	T	C	4: 138,316,005 (GRCm39)	D579G	probably damaging	Het
Wdr6	A	G	9: 108,450,691 (GRCm39)	Y971H	probably benign	Het
Zfp354c	A	G	11: 50,706,059 (GRCm39)	F339L	probably damaging	Het
Zfyve26	A	G	12: 79,317,610 (GRCm39)		probably null	Het

Other mutations in Rbbp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Rbbp5	APN	1	132,417,444 (GRCm39)	missense	probably damaging	1.00
IGL01373:Rbbp5	APN	1	132,420,339 (GRCm39)	missense	probably benign	0.07
IGL01577:Rbbp5	APN	1	132,420,393 (GRCm39)	missense	possibly damaging	0.68
IGL01728:Rbbp5	APN	1	132,425,818 (GRCm39)	missense	probably benign
R0097:Rbbp5	UTSW	1	132,418,227 (GRCm39)	missense	possibly damaging	0.81
R0420:Rbbp5	UTSW	1	132,421,582 (GRCm39)	missense	possibly damaging	0.88
R1540:Rbbp5	UTSW	1	132,422,020 (GRCm39)	nonsense	probably null
R1965:Rbbp5	UTSW	1	132,422,035 (GRCm39)	missense	probably damaging	1.00
R2419:Rbbp5	UTSW	1	132,421,564 (GRCm39)	missense	possibly damaging	0.95
R2924:Rbbp5	UTSW	1	132,420,401 (GRCm39)	critical splice donor site	probably null
R3810:Rbbp5	UTSW	1	132,420,325 (GRCm39)	missense	probably damaging	0.98
R3811:Rbbp5	UTSW	1	132,420,325 (GRCm39)	missense	probably damaging	0.98
R4234:Rbbp5	UTSW	1	132,412,496 (GRCm39)	missense	probably benign	0.08
R5024:Rbbp5	UTSW	1	132,418,226 (GRCm39)	missense	possibly damaging	0.65
R5166:Rbbp5	UTSW	1	132,418,303 (GRCm39)	missense	possibly damaging	0.60
R5435:Rbbp5	UTSW	1	132,422,013 (GRCm39)	missense	probably damaging	1.00
R6018:Rbbp5	UTSW	1	132,422,078 (GRCm39)	missense	probably damaging	1.00
R6172:Rbbp5	UTSW	1	132,424,554 (GRCm39)	missense	possibly damaging	0.89
R7500:Rbbp5	UTSW	1	132,421,879 (GRCm39)	missense	probably benign	0.35
R9155:Rbbp5	UTSW	1	132,422,023 (GRCm39)	missense	probably damaging	1.00
R9168:Rbbp5	UTSW	1	132,417,464 (GRCm39)	missense	probably benign	0.28
X0019:Rbbp5	UTSW	1	132,417,436 (GRCm39)	missense	probably damaging	1.00
X0025:Rbbp5	UTSW	1	132,417,396 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTCCTATGTGTCGTCACTAGT -3'
(R):5'- TAAGGCCGCACTGACACCT -3'

Sequencing Primer
(F):5'- ATGTGTCGTCACTAGTTTGTTTCCAC -3'
(R):5'- AGTGCCATTATCTCTGCACTCAGG -3'

Posted On

2022-03-25