Mutagenetix > Incidental Mutation

Incidental Mutation 'R2152:Rb1'

234436

Institutional Source

Beutler Lab

Gene Symbol

Rb1

Ensembl Gene

ENSMUSG00000022105

Gene Name

RB transcriptional corepressor 1

Synonyms

Rb-1, Rb, pRb

MMRRC Submission

040155-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2152 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73183673-73325822 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73288725 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 169 (T169A)

Ref Sequence

ENSEMBL: ENSMUSP00000022701 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022701] [ENSMUST00000164624]

AlphaFold

P13405

Predicted Effect

probably benign
Transcript: ENSMUST00000022701
AA Change: T169A

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

SMART Domains

Protein: ENSMUSP00000022701
Gene: ENSMUSG00000022105
AA Change: T169A

Domain	Start	End	E-Value	Type
low complexity region	2	28	N/A	INTRINSIC
low complexity region	37	53	N/A	INTRINSIC
DUF3452	97	223	4.59e-25	SMART
RB_A	367	567	5.53e-92	SMART
CYCLIN	653	740	1.62e-5	SMART
Rb_C	761	920	1.28e-96	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163932

Predicted Effect

probably benign
Transcript: ENSMUST00000164624

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	A	T	1: 90,213,843 (GRCm38)	Y8F	probably benign	Het
Acy1	T	C	9: 106,435,617 (GRCm38)	E175G	probably damaging	Het
Add2	T	C	6: 86,098,598 (GRCm38)	L243P	probably damaging	Het
Adsl	A	G	15: 80,967,662 (GRCm38)	D407G	probably damaging	Het
Afg3l1	T	G	8: 123,494,836 (GRCm38)	I478S	probably damaging	Het
Aoc1l1	T	A	6: 48,976,539 (GRCm38)	I466N	probably damaging	Het
Arfrp1	T	C	2: 181,359,694 (GRCm38)	T108A	probably benign	Het
Art5	A	G	7: 102,098,200 (GRCm38)	L124P	possibly damaging	Het
Asap2	A	T	12: 21,112,083 (GRCm38)	T14S	probably damaging	Het
Atp2c2	A	G	8: 119,756,102 (GRCm38)	N901S	probably benign	Het
Bbs12	G	T	3: 37,321,160 (GRCm38)	E586*	probably null	Het
Bicd2	G	T	13: 49,379,576 (GRCm38)	C546F	probably damaging	Het
Bid	A	T	6: 120,900,254 (GRCm38)	L42Q	probably damaging	Het
Bpifb9a	A	G	2: 154,260,135 (GRCm38)	K51E	probably benign	Het
Calcr	G	T	6: 3,687,615 (GRCm38)	T424K	probably benign	Het
Cd46	A	G	1: 195,062,413 (GRCm38)	I339T	probably benign	Het
Chek1	C	A	9: 36,723,983 (GRCm38)	V35F	probably damaging	Het
Cntn3	A	G	6: 102,206,537 (GRCm38)	I719T	probably damaging	Het
Cyb5r1	T	C	1: 134,409,625 (GRCm38)	I163T	possibly damaging	Het
Cyp2d26	A	T	15: 82,792,706 (GRCm38)		probably null	Het
Dclk1	A	G	3: 55,247,212 (GRCm38)	Y21C	probably damaging	Het
Dgcr2	G	A	16: 17,891,487 (GRCm38)		probably null	Het
Dhx38	T	C	8: 109,560,674 (GRCm38)	S221G	probably benign	Het
Dis3l	T	A	9: 64,307,263 (GRCm38)	N981I	probably benign	Het
Dnah3	C	T	7: 119,952,013 (GRCm38)	V3028I	probably benign	Het
Dnah6	T	C	6: 73,049,166 (GRCm38)	Y3448C	probably benign	Het
Dok5	G	A	2: 170,800,896 (GRCm38)	G38D	probably damaging	Het
Epb41l1	A	G	2: 156,514,128 (GRCm38)	D528G	probably damaging	Het
Fat4	A	T	3: 38,983,395 (GRCm38)	Y3732F	probably damaging	Het
Fcsk	T	A	8: 110,889,072 (GRCm38)	T542S	probably benign	Het
Fgfr4	A	T	13: 55,166,964 (GRCm38)	Y640F	probably damaging	Het
Foxo6	T	A	4: 120,268,614 (GRCm38)	D328V	probably benign	Het
Foxp1	A	G	6: 99,016,541 (GRCm38)	L134P	probably damaging	Het
Frem2	G	A	3: 53,517,029 (GRCm38)	R2996*	probably null	Het
Garem2	T	C	5: 30,108,299 (GRCm38)	S54P	probably damaging	Het
Gcn1	T	A	5: 115,609,829 (GRCm38)	I1765N	probably benign	Het
Gm4787	T	A	12: 81,377,219 (GRCm38)	I722F	probably benign	Het
Gpc6	G	T	14: 116,926,092 (GRCm38)	A53S	probably benign	Het
Gtpbp8	A	G	16: 44,740,027 (GRCm38)		probably null	Het
H2-Q2	T	C	17: 35,345,276 (GRCm38)		probably null	Het
Hapln2	C	A	3: 88,023,613 (GRCm38)	R157L	probably benign	Het
Hemgn	C	A	4: 46,396,607 (GRCm38)	E210*	probably null	Het
Hpse	T	A	5: 100,691,403 (GRCm38)	K360*	probably null	Het
Iqcj	A	T	3: 68,055,310 (GRCm38)	E68V	probably damaging	Het
Kat2a	T	C	11: 100,712,346 (GRCm38)		probably benign	Het
Kat6b	A	T	14: 21,668,667 (GRCm38)	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,371,440 (GRCm38)	I371F	probably damaging	Het
Klhl30	C	A	1: 91,357,824 (GRCm38)	A356D	probably benign	Het
Klra3	G	C	6: 130,333,144 (GRCm38)	R138G	probably benign	Het
Micu1	G	T	10: 59,863,288 (GRCm38)	M468I	probably benign	Het
Mrc1	A	G	2: 14,327,864 (GRCm38)	T1292A	probably damaging	Het
Myh8	G	A	11: 67,294,469 (GRCm38)	E849K	probably damaging	Het
Myom3	G	T	4: 135,803,233 (GRCm38)	R1152L	probably benign	Het
Nedd4l	T	A	18: 65,210,330 (GRCm38)	H820Q	probably damaging	Het
Nlrp4g	T	A	9: 124,353,339 (GRCm38)		noncoding transcript	Het
Oga	A	T	19: 45,758,022 (GRCm38)	Y779*	probably null	Het
Or13p5	C	T	4: 118,735,249 (GRCm38)	A240V	possibly damaging	Het
Or1m1	T	C	9: 18,755,095 (GRCm38)	D180G	probably damaging	Het
Or2a51	A	G	6: 43,202,069 (GRCm38)	I142V	probably benign	Het
Or51a39	G	T	7: 102,713,581 (GRCm38)	H277Q	probably benign	Het
Or52j3	A	T	7: 103,186,640 (GRCm38)	D13V	probably benign	Het
Or8b49	G	T	9: 38,594,411 (GRCm38)	L63F	probably damaging	Het
Or8g54	A	T	9: 39,795,647 (GRCm38)	I91F	probably benign	Het
Or9s23	T	C	1: 92,573,908 (GRCm38)	S246P	probably damaging	Het
Otop1	T	A	5: 38,302,851 (GRCm38)	M587K	probably damaging	Het
Pgm5	T	A	19: 24,834,815 (GRCm38)	I118F	probably damaging	Het
Phc2	A	G	4: 128,745,066 (GRCm38)	*41W	probably null	Het
Phf8-ps	T	A	17: 33,066,934 (GRCm38)	D298V	probably damaging	Het
Piezo2	A	T	18: 63,114,041 (GRCm38)	M532K	probably damaging	Het
Pjvk	A	T	2: 76,658,369 (GRCm38)	I295F	probably benign	Het
Popdc2	A	G	16: 38,363,120 (GRCm38)	N155S	possibly damaging	Het
Ppp4r3a	G	T	12: 101,042,567 (GRCm38)	N684K	probably damaging	Het
Prpf4b	T	A	13: 34,900,419 (GRCm38)	M930K	probably benign	Het
Ptpn12	C	A	5: 21,002,468 (GRCm38)	Q297H	probably damaging	Het
Ptprz1	C	A	6: 23,030,671 (GRCm38)	L1010I	probably damaging	Het
Rabepk	A	T	2: 34,784,550 (GRCm38)	D232E	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,985 (GRCm38)	H636R	probably benign	Het
Rcc2	T	C	4: 140,717,117 (GRCm38)	L373P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Rrbp1	A	G	2: 143,954,198 (GRCm38)	L1200P	possibly damaging	Het
Sdk1	A	G	5: 141,792,944 (GRCm38)	N226D	probably damaging	Het
Selenbp1	G	A	3: 94,944,130 (GRCm38)	R398H	probably damaging	Het
Selenoo	A	G	15: 89,099,282 (GRCm38)	M509V	probably benign	Het
Sidt2	T	C	9: 45,945,340 (GRCm38)	D477G	probably damaging	Het
Slc2a5	T	G	4: 150,125,638 (GRCm38)	S27A	probably damaging	Het
Slc30a5	A	T	13: 100,803,949 (GRCm38)	H619Q	probably damaging	Het
Slc5a9	A	G	4: 111,893,223 (GRCm38)	I146T	possibly damaging	Het
Slc6a1	G	T	6: 114,307,770 (GRCm38)	G263V	probably damaging	Het
Slmap	A	G	14: 26,418,247 (GRCm38)	Y771H	probably damaging	Het
Snx29	A	G	16: 11,400,843 (GRCm38)	D181G	possibly damaging	Het
Spata31d1c	G	A	13: 65,033,965 (GRCm38)		probably null	Het
Stat5a	C	A	11: 100,874,090 (GRCm38)	T213N	probably benign	Het
Stt3a	A	T	9: 36,747,996 (GRCm38)	V349D	probably damaging	Het
Tcf20	A	T	15: 82,855,602 (GRCm38)	D549E	probably damaging	Het
Thbs2	T	A	17: 14,673,209 (GRCm38)	D903V	probably damaging	Het
Tln2	T	C	9: 67,302,560 (GRCm38)	T432A	probably damaging	Het
Tmc1	A	T	19: 20,856,675 (GRCm38)	N241K	probably benign	Het
Tmem260	G	T	14: 48,477,609 (GRCm38)	R240L	possibly damaging	Het
Tnfaip6	A	T	2: 52,043,730 (GRCm38)	E32D	probably damaging	Het
Trpa1	A	T	1: 14,899,401 (GRCm38)	H381Q	probably damaging	Het
Tsen2	T	C	6: 115,547,975 (GRCm38)	I45T	possibly damaging	Het
Ttc6	G	A	12: 57,705,552 (GRCm38)	V1415I	probably damaging	Het
Ttll7	G	T	3: 146,930,189 (GRCm38)	R426L	probably damaging	Het
Ttn	A	C	2: 76,740,138 (GRCm38)	S26804A	probably damaging	Het
Ubqlnl	A	T	7: 104,148,683 (GRCm38)	C536S	probably benign	Het
Vmn2r73	A	G	7: 85,857,728 (GRCm38)	V792A	probably benign	Het
Zfp345	T	C	2: 150,472,658 (GRCm38)	T320A	probably benign	Het
Zfp407	T	C	18: 84,209,649 (GRCm38)	D1945G	possibly damaging	Het

Other mutations in Rb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Rb1	APN	14	73,264,598 (GRCm38)	missense	probably damaging	1.00
IGL00951:Rb1	APN	14	73,322,072 (GRCm38)	missense	probably damaging	1.00
IGL01152:Rb1	APN	14	73,205,870 (GRCm38)	missense	probably damaging	1.00
IGL01339:Rb1	APN	14	73,264,371 (GRCm38)	critical splice acceptor site	probably null
IGL01349:Rb1	APN	14	73,269,118 (GRCm38)	missense	probably damaging	1.00
IGL01390:Rb1	APN	14	73,294,999 (GRCm38)	missense	probably benign	0.02
IGL02066:Rb1	APN	14	73,198,534 (GRCm38)	missense	probably benign	0.06
IGL02207:Rb1	APN	14	73,206,085 (GRCm38)	missense	probably damaging	1.00
IGL02860:Rb1	APN	14	73,206,012 (GRCm38)	missense	probably damaging	1.00
IGL03370:Rb1	APN	14	73,282,866 (GRCm38)	critical splice donor site	probably null
rubidium	UTSW	14	73,199,311 (GRCm38)	missense	probably damaging	1.00
P0028:Rb1	UTSW	14	73,264,628 (GRCm38)	missense	probably damaging	1.00
R0553:Rb1	UTSW	14	73,211,712 (GRCm38)	nonsense	probably null
R0563:Rb1	UTSW	14	73,216,767 (GRCm38)	missense	probably damaging	1.00
R0586:Rb1	UTSW	14	73,287,684 (GRCm38)	intron	probably benign
R0595:Rb1	UTSW	14	73,273,680 (GRCm38)	missense	probably damaging	1.00
R0755:Rb1	UTSW	14	73,197,213 (GRCm38)	makesense	probably null
R1480:Rb1	UTSW	14	73,262,602 (GRCm38)	missense	probably benign
R1513:Rb1	UTSW	14	73,322,084 (GRCm38)	missense	probably benign	0.00
R1752:Rb1	UTSW	14	73,287,624 (GRCm38)	missense	probably damaging	0.99
R1919:Rb1	UTSW	14	73,212,990 (GRCm38)	nonsense	probably null
R2010:Rb1	UTSW	14	73,294,993 (GRCm38)	missense	probably benign	0.16
R2087:Rb1	UTSW	14	73,280,252 (GRCm38)	missense	probably benign	0.09
R2167:Rb1	UTSW	14	73,211,651 (GRCm38)	missense	probably damaging	1.00
R3950:Rb1	UTSW	14	73,262,662 (GRCm38)	missense	probably damaging	1.00
R4183:Rb1	UTSW	14	73,198,526 (GRCm38)	splice site	probably null
R4225:Rb1	UTSW	14	73,269,191 (GRCm38)	missense	possibly damaging	0.58
R4306:Rb1	UTSW	14	73,262,695 (GRCm38)	missense	probably damaging	1.00
R4464:Rb1	UTSW	14	73,199,198 (GRCm38)	splice site	probably null
R4609:Rb1	UTSW	14	73,262,514 (GRCm38)	splice site	probably benign
R4671:Rb1	UTSW	14	73,273,676 (GRCm38)	missense	probably damaging	1.00
R4916:Rb1	UTSW	14	73,216,691 (GRCm38)	missense	probably damaging	1.00
R5160:Rb1	UTSW	14	73,264,455 (GRCm38)	synonymous	silent
R5210:Rb1	UTSW	14	73,199,311 (GRCm38)	missense	probably damaging	1.00
R5320:Rb1	UTSW	14	73,213,126 (GRCm38)	nonsense	probably null
R5436:Rb1	UTSW	14	73,213,140 (GRCm38)	splice site	probably null
R5467:Rb1	UTSW	14	73,211,620 (GRCm38)	missense	possibly damaging	0.92
R5592:Rb1	UTSW	14	73,211,747 (GRCm38)	missense	probably damaging	1.00
R6326:Rb1	UTSW	14	73,198,534 (GRCm38)	missense	probably benign	0.06
R6363:Rb1	UTSW	14	73,287,641 (GRCm38)	missense	probably benign	0.01
R6395:Rb1	UTSW	14	73,199,196 (GRCm38)	missense	probably damaging	1.00
R6414:Rb1	UTSW	14	73,282,974 (GRCm38)	missense	unknown
R6460:Rb1	UTSW	14	73,278,454 (GRCm38)	missense	probably benign	0.06
R6503:Rb1	UTSW	14	73,205,880 (GRCm38)	missense	probably benign	0.08
R6519:Rb1	UTSW	14	73,298,063 (GRCm38)	missense	probably benign	0.00
R6671:Rb1	UTSW	14	73,197,266 (GRCm38)	missense	probably damaging	1.00
R7026:Rb1	UTSW	14	73,298,099 (GRCm38)	missense	probably benign	0.00
R7103:Rb1	UTSW	14	73,262,644 (GRCm38)	missense	probably damaging	1.00
R7263:Rb1	UTSW	14	73,282,923 (GRCm38)	nonsense	probably null
R7478:Rb1	UTSW	14	73,269,137 (GRCm38)	missense	probably damaging	1.00
R7519:Rb1	UTSW	14	73,264,608 (GRCm38)	missense	probably damaging	1.00
R7817:Rb1	UTSW	14	73,198,543 (GRCm38)	missense	probably damaging	1.00
R8323:Rb1	UTSW	14	73,265,583 (GRCm38)	missense	probably benign	0.09
R8809:Rb1	UTSW	14	73,265,560 (GRCm38)	missense	probably damaging	1.00
R8813:Rb1	UTSW	14	73,262,587 (GRCm38)	missense	probably damaging	0.96
R8849:Rb1	UTSW	14	73,197,269 (GRCm38)	missense	probably damaging	1.00
R9272:Rb1	UTSW	14	73,280,162 (GRCm38)	missense	possibly damaging	0.85
R9482:Rb1	UTSW	14	73,206,053 (GRCm38)	missense	probably damaging	1.00
R9606:Rb1	UTSW	14	73,280,133 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTGAATTCCAGCCAATTGGTTCTC -3'
(R):5'- TGAGTGACAGAAGCCGGTTC -3'

Sequencing Primer
(F):5'- CTCTCTGCTATATAAGTAAGGCACAC -3'
(R):5'- GACAGAAGCCGGTTCTTTTATC -3'

Posted On

2014-10-01