Mutagenetix > Incidental Mutation

Incidental Mutation 'R1866:Rbl2'

208731

Institutional Source

Beutler Lab

Gene Symbol

Rbl2

Ensembl Gene

ENSMUSG00000031666

Gene Name

RB transcriptional corepressor like 2

Synonyms

p130, Rb2, retinoblastoma-like 2

MMRRC Submission

039889-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1866 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91796685-91850472 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91839157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 858 (E858D)

Ref Sequence

ENSEMBL: ENSMUSP00000147579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034091] [ENSMUST00000120426] [ENSMUST00000209518] [ENSMUST00000211136]

AlphaFold

Q64700

Predicted Effect

probably benign
Transcript: ENSMUST00000034091
AA Change: E901D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: E901D

Domain	Start	End	E-Value	Type
low complexity region	8	30	N/A	INTRINSIC
CYCLIN	44	131	5.81e-1	SMART
DUF3452	94	236	2.36e-77	SMART
low complexity region	301	313	N/A	INTRINSIC
RB_A	414	606	3.42e-106	SMART
low complexity region	722	733	N/A	INTRINSIC
low complexity region	758	771	N/A	INTRINSIC
low complexity region	776	789	N/A	INTRINSIC
low complexity region	804	818	N/A	INTRINSIC
CYCLIN	845	1008	2.86e-6	SMART
Rb_C	1019	1135	5.42e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120426

SMART Domains

Protein: ENSMUSP00000113379
Gene: ENSMUSG00000031667

Domain	Start	End	E-Value	Type
UBCc	77	222	3.97e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126689

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147361

Predicted Effect

probably benign
Transcript: ENSMUST00000209518
AA Change: E891D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000211136
AA Change: E858D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210728

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Nullizygous mice generally show no overt phenotype. Homozygotes for a null allele show strain-dependent embryonic lethality and growth arrest associated with altered apoptosis and cell proliferation, impaired neurogenesis and myogenesis, failed embryo turning and heart looping, and thin myocardium. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	A	T	19: 23,870,195 (GRCm39)	E9V	probably benign	Het
Armc8	T	A	9: 99,418,333 (GRCm39)	T32S	probably benign	Het
Atr	T	A	9: 95,752,658 (GRCm39)		probably null	Het
Blm	A	G	7: 80,143,862 (GRCm39)	L859P	probably benign	Het
Cacna2d3	A	T	14: 28,691,171 (GRCm39)	F51L	probably damaging	Het
Cdcp2	A	G	4: 106,964,197 (GRCm39)	N349S	probably damaging	Het
Cfap57	G	A	4: 118,457,124 (GRCm39)	H442Y	possibly damaging	Het
Chrm3	A	G	13: 9,928,517 (GRCm39)	L173P	probably damaging	Het
Cpb1	C	G	3: 20,317,920 (GRCm39)	M201I	probably benign	Het
Dgcr8	A	T	16: 18,076,178 (GRCm39)	N2K	probably damaging	Het
Dnah3	A	T	7: 119,528,079 (GRCm39)		probably null	Het
Dnah6	T	A	6: 73,077,071 (GRCm39)	Q2398L	probably benign	Het
Dpep2	A	T	8: 106,716,080 (GRCm39)		probably null	Het
Eif2ak4	C	A	2: 118,303,142 (GRCm39)	T1504K	probably damaging	Het
Exoc6b	A	G	6: 84,828,896 (GRCm39)	V496A	probably damaging	Het
Fam174a	A	C	1: 95,241,620 (GRCm39)	S27R	probably benign	Het
Fat2	T	A	11: 55,182,840 (GRCm39)	Q1339L	probably benign	Het
Fkbpl	T	A	17: 34,864,797 (GRCm39)	D188E	possibly damaging	Het
Focad	A	G	4: 88,325,402 (GRCm39)	D89G	possibly damaging	Het
Fstl4	C	A	11: 53,077,225 (GRCm39)	Q661K	probably benign	Het
Gck	T	C	11: 5,853,253 (GRCm39)	Y289C	probably benign	Het
Gm16181	T	A	17: 35,442,913 (GRCm39)		probably benign	Het
Herc1	G	A	9: 66,358,073 (GRCm39)	G2385S	probably damaging	Het
Igfn1	T	C	1: 135,902,606 (GRCm39)		probably null	Het
Il12b	T	C	11: 44,299,353 (GRCm39)	W141R	probably damaging	Het
Itga6	T	A	2: 71,664,414 (GRCm39)	S517T	probably benign	Het
Kank1	A	G	19: 25,388,813 (GRCm39)	S801G	probably benign	Het
Klrh1	A	G	6: 129,752,343 (GRCm39)		probably null	Het
Lctl	A	G	9: 64,039,003 (GRCm39)	D205G	probably damaging	Het
Lhx3	A	C	2: 26,093,986 (GRCm39)	V79G	probably damaging	Het
Lrrc9	T	C	12: 72,543,912 (GRCm39)	I1127T	probably damaging	Het
Ltbp3	A	T	19: 5,797,877 (GRCm39)	E505D	probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Map6	A	G	7: 98,965,083 (GRCm39)	S291G	probably damaging	Het
Mapk7	A	G	11: 61,380,239 (GRCm39)	F671L	probably benign	Het
Mau2	A	G	8: 70,484,142 (GRCm39)	W149R	probably damaging	Het
Mb21d2	C	T	16: 28,647,267 (GRCm39)	V236I	possibly damaging	Het
Mc5r	C	G	18: 68,471,741 (GRCm39)		probably null	Het
Mical1	C	A	10: 41,361,466 (GRCm39)	P797Q	probably benign	Het
Mnx1	G	A	5: 29,679,043 (GRCm39)	R347C	unknown	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nlrp2	G	T	7: 5,330,715 (GRCm39)	C560*	probably null	Het
Npat	T	A	9: 53,474,416 (GRCm39)	L736H	probably damaging	Het
Nup155	T	A	15: 8,145,010 (GRCm39)	V147E	probably damaging	Het
Nxpe2	A	G	9: 48,238,121 (GRCm39)	F45L	probably benign	Het
Obscn	T	C	11: 58,951,741 (GRCm39)	D4370G	probably benign	Het
Or2d3b	A	G	7: 106,514,273 (GRCm39)	I289M	probably damaging	Het
Or4a79	T	C	2: 89,551,550 (GRCm39)	K302E	probably benign	Het
Or4c35	T	C	2: 89,808,671 (GRCm39)	L183S	probably damaging	Het
Or4d10	A	G	19: 12,051,183 (GRCm39)	V271A	probably benign	Het
Or52n4	A	G	7: 104,294,004 (GRCm39)	S190P	probably benign	Het
Or5g23	T	A	2: 85,439,188 (GRCm39)	H22L	probably benign	Het
Or8k3	A	C	2: 86,059,072 (GRCm39)	M81R	probably damaging	Het
Pcx	T	C	19: 4,671,249 (GRCm39)	I1157T	possibly damaging	Het
Pias2	T	A	18: 77,240,412 (GRCm39)	S589R	probably benign	Het
Plcb1	T	C	2: 135,186,093 (GRCm39)	F687L	probably benign	Het
Plk5	G	T	10: 80,196,403 (GRCm39)		probably null	Het
Pnpla2	T	A	7: 141,035,329 (GRCm39)	Y44N	probably damaging	Het
Ppp1r12a	T	A	10: 108,098,292 (GRCm39)	D337E	possibly damaging	Het
Prl2c5	G	T	13: 13,365,358 (GRCm39)		probably null	Het
Prom2	T	C	2: 127,378,514 (GRCm39)	D460G	probably damaging	Het
Pros1	A	G	16: 62,748,498 (GRCm39)	H657R	possibly damaging	Het
Prune2	A	G	19: 17,100,856 (GRCm39)	E2120G	probably damaging	Het
Rap2a	T	A	14: 120,716,347 (GRCm39)	L70Q	probably damaging	Het
Rbm48	T	C	5: 3,645,997 (GRCm39)	Y69C	probably damaging	Het
Rgs12	T	A	5: 35,123,018 (GRCm39)	I267N	probably damaging	Het
Rpusd2	G	T	2: 118,865,728 (GRCm39)	A142S	probably benign	Het
Rspo2	A	T	15: 42,939,332 (GRCm39)	W153R	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Serinc5	T	A	13: 92,842,771 (GRCm39)	M407K	probably damaging	Het
Slain2	T	C	5: 73,114,665 (GRCm39)	S299P	probably damaging	Het
Slc17a4	A	G	13: 24,084,528 (GRCm39)	Y419H	possibly damaging	Het
Slc1a6	T	A	10: 78,627,183 (GRCm39)	D173E	probably damaging	Het
Slc22a19	A	T	19: 7,688,506 (GRCm39)	I18N	probably damaging	Het
Slc37a3	A	T	6: 39,336,902 (GRCm39)	F91L	probably damaging	Het
Spag5	C	A	11: 78,195,281 (GRCm39)	T196K	possibly damaging	Het
Susd2	G	T	10: 75,475,566 (GRCm39)	A326D	probably damaging	Het
Syna	G	T	5: 134,588,769 (GRCm39)	A60D	probably damaging	Het
Tchh	A	T	3: 93,355,067 (GRCm39)	E1502D	unknown	Het
Tecta	T	C	9: 42,303,320 (GRCm39)	H104R	probably damaging	Het
Tmed1	T	C	9: 21,420,387 (GRCm39)	D102G	probably damaging	Het
Trip12	T	C	1: 84,722,781 (GRCm39)	D128G	probably damaging	Het
Uroc1	A	G	6: 90,338,506 (GRCm39)	M656V	probably benign	Het
Usp47	T	A	7: 111,701,077 (GRCm39)	V1096D	possibly damaging	Het
Utp20	T	A	10: 88,598,632 (GRCm39)	K115*	probably null	Het
Vmn2r19	G	T	6: 123,308,597 (GRCm39)		probably null	Het
Vmn2r86	A	T	10: 130,282,255 (GRCm39)	V787D	probably damaging	Het
Vmn2r87	A	T	10: 130,308,441 (GRCm39)	I599N	possibly damaging	Het
Vwf	A	G	6: 125,644,492 (GRCm39)	D2449G	possibly damaging	Het
Zbtb7c	T	A	18: 76,269,977 (GRCm39)	C22S	probably benign	Het
Zc3h7a	A	G	16: 10,965,168 (GRCm39)	I655T	possibly damaging	Het
Zfp764l1	A	G	7: 126,992,503 (GRCm39)	W36R	probably damaging	Het

Other mutations in Rbl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Rbl2	APN	8	91,812,073 (GRCm39)	missense	probably damaging	1.00
IGL01084:Rbl2	APN	8	91,848,941 (GRCm39)	missense	probably damaging	0.99
IGL01317:Rbl2	APN	8	91,826,685 (GRCm39)	missense	probably damaging	1.00
IGL01637:Rbl2	APN	8	91,833,066 (GRCm39)	missense	probably benign
IGL01843:Rbl2	APN	8	91,816,844 (GRCm39)	missense	probably benign	0.11
IGL01884:Rbl2	APN	8	91,823,464 (GRCm39)	missense	probably damaging	1.00
IGL02071:Rbl2	APN	8	91,828,826 (GRCm39)	missense	probably damaging	1.00
IGL02588:Rbl2	APN	8	91,813,712 (GRCm39)	missense	probably damaging	0.99
IGL03027:Rbl2	APN	8	91,805,534 (GRCm39)	missense	possibly damaging	0.92
IGL03162:Rbl2	APN	8	91,812,330 (GRCm39)	missense	probably benign	0.01
IGL03200:Rbl2	APN	8	91,823,395 (GRCm39)	missense	probably benign	0.00
R0165:Rbl2	UTSW	8	91,800,804 (GRCm39)	missense	probably damaging	1.00
R0238:Rbl2	UTSW	8	91,833,135 (GRCm39)	missense	probably damaging	0.99
R0238:Rbl2	UTSW	8	91,833,135 (GRCm39)	missense	probably damaging	0.99
R0317:Rbl2	UTSW	8	91,813,772 (GRCm39)	missense	probably benign	0.00
R0539:Rbl2	UTSW	8	91,839,133 (GRCm39)	splice site	probably benign
R1532:Rbl2	UTSW	8	91,833,045 (GRCm39)	missense	probably benign	0.01
R1696:Rbl2	UTSW	8	91,812,352 (GRCm39)	missense	probably benign	0.12
R1852:Rbl2	UTSW	8	91,822,191 (GRCm39)	missense	possibly damaging	0.84
R1975:Rbl2	UTSW	8	91,812,090 (GRCm39)	missense	probably benign
R2062:Rbl2	UTSW	8	91,833,367 (GRCm39)	missense	probably damaging	1.00
R2180:Rbl2	UTSW	8	91,816,683 (GRCm39)	missense	possibly damaging	0.51
R2423:Rbl2	UTSW	8	91,813,774 (GRCm39)	missense	probably benign	0.34
R3109:Rbl2	UTSW	8	91,828,863 (GRCm39)	missense	probably benign
R4356:Rbl2	UTSW	8	91,833,735 (GRCm39)	missense	probably damaging	0.97
R4692:Rbl2	UTSW	8	91,849,047 (GRCm39)	missense	probably damaging	1.00
R4707:Rbl2	UTSW	8	91,812,196 (GRCm39)	missense	probably damaging	1.00
R4784:Rbl2	UTSW	8	91,812,196 (GRCm39)	missense	probably damaging	1.00
R5084:Rbl2	UTSW	8	91,841,759 (GRCm39)	missense	probably benign	0.43
R5432:Rbl2	UTSW	8	91,828,911 (GRCm39)	missense	probably benign	0.01
R5493:Rbl2	UTSW	8	91,842,447 (GRCm39)	missense	probably damaging	1.00
R5546:Rbl2	UTSW	8	91,805,560 (GRCm39)	missense	probably benign	0.00
R5918:Rbl2	UTSW	8	91,816,758 (GRCm39)	missense	probably benign	0.02
R6186:Rbl2	UTSW	8	91,833,358 (GRCm39)	missense	probably damaging	1.00
R6257:Rbl2	UTSW	8	91,842,306 (GRCm39)	missense	probably damaging	1.00
R6526:Rbl2	UTSW	8	91,823,467 (GRCm39)	missense	probably benign	0.04
R6546:Rbl2	UTSW	8	91,796,998 (GRCm39)	missense	probably benign
R6714:Rbl2	UTSW	8	91,833,415 (GRCm39)	missense	possibly damaging	0.91
R7214:Rbl2	UTSW	8	91,810,057 (GRCm39)	critical splice donor site	probably null
R7286:Rbl2	UTSW	8	91,828,922 (GRCm39)	nonsense	probably null
R7290:Rbl2	UTSW	8	91,841,669 (GRCm39)	missense	probably benign	0.33
R7315:Rbl2	UTSW	8	91,802,640 (GRCm39)	missense	probably damaging	0.96
R7524:Rbl2	UTSW	8	91,841,821 (GRCm39)	missense	probably benign
R8060:Rbl2	UTSW	8	91,823,497 (GRCm39)	critical splice donor site	probably null
R8071:Rbl2	UTSW	8	91,840,617 (GRCm39)	missense	probably damaging	1.00
R8154:Rbl2	UTSW	8	91,833,825 (GRCm39)	missense	probably damaging	1.00
R8302:Rbl2	UTSW	8	91,812,073 (GRCm39)	missense	probably damaging	1.00
R8344:Rbl2	UTSW	8	91,842,387 (GRCm39)	missense	possibly damaging	0.89
R8724:Rbl2	UTSW	8	91,841,837 (GRCm39)	missense	possibly damaging	0.54
R8822:Rbl2	UTSW	8	91,833,346 (GRCm39)	missense	possibly damaging	0.95
R9186:Rbl2	UTSW	8	91,828,006 (GRCm39)	missense	probably damaging	1.00
R9729:Rbl2	UTSW	8	91,805,527 (GRCm39)	missense	probably damaging	0.97
R9801:Rbl2	UTSW	8	91,822,229 (GRCm39)	missense	probably benign	0.00
X0023:Rbl2	UTSW	8	91,816,707 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AACAACTTCCACTTGTAGTCAGC -3'
(R):5'- ACTTGTGACTCCTGTGGGGAAG -3'

Sequencing Primer
(F):5'- GTAGTCAGCATTTCAAGTTCCTGAGC -3'
(R):5'- TCCTGTGGGGAAGAGGCAC -3'

Posted On

2014-06-30