Mutagenetix > Incidental Mutation

Incidental Mutation 'R7214:Rbl2'

561308

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

045286-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7214 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91796685-91850472 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 91810057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034091 (fasta)

Gene Model

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

AlphaFold

Q64700

Predicted Effect

probably null
Transcript: ENSMUST00000034091

SMART Domains

Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666

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 null
Transcript: ENSMUST00000209518

Predicted Effect

probably benign
Transcript: ENSMUST00000211136

Meta Mutation Damage Score

0.9503

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg5	C	T	8: 95,660,646 (GRCm39)	T95I		Het
Arap2	C	T	5: 62,906,681 (GRCm39)	V113I	probably benign	Het
Atraid	C	T	5: 31,209,590 (GRCm39)	Q85*	probably null	Het
Bcdin3d	T	C	15: 99,368,344 (GRCm39)	D285G	probably benign	Het
Bmal1	T	A	7: 112,898,610 (GRCm39)	I346K	probably benign	Het
Carmil3	T	C	14: 55,736,069 (GRCm39)	W604R	probably damaging	Het
Ccl6	C	T	11: 83,480,582 (GRCm39)		probably null	Het
Cct4	C	T	11: 22,940,616 (GRCm39)		probably benign	Het
Cd2ap	C	T	17: 43,156,285 (GRCm39)	R84Q	possibly damaging	Het
Cdt1	T	A	8: 123,295,012 (GRCm39)		probably null	Het
Cln3	C	T	7: 126,181,942 (GRCm39)	G40D	probably damaging	Het
Crlf3	T	C	11: 79,955,216 (GRCm39)	S47G	possibly damaging	Het
Csrp3	T	C	7: 48,480,385 (GRCm39)	K193R	probably benign	Het
Cxcl3	A	C	5: 90,934,219 (GRCm39)	E33A	probably damaging	Het
Cyp11b1	T	C	15: 74,708,708 (GRCm39)	D362G	probably benign	Het
Dnah2	T	C	11: 69,321,935 (GRCm39)	D3795G	probably damaging	Het
Dnah3	G	A	7: 119,521,965 (GRCm39)	A4076V	probably damaging	Het
Dnaja3	T	A	16: 4,519,046 (GRCm39)	I380N	possibly damaging	Het
Dock10	T	A	1: 80,546,246 (GRCm39)	H785L	probably benign	Het
Dop1b	T	G	16: 93,607,023 (GRCm39)	F2226V	possibly damaging	Het
Dscaml1	A	T	9: 45,581,437 (GRCm39)	I419F	probably benign	Het
Dyrk4	T	A	6: 126,862,200 (GRCm39)	I431F	probably benign	Het
Endog	C	T	2: 30,062,902 (GRCm39)	R181C	probably damaging	Het
Fam90a1a	A	T	8: 22,453,641 (GRCm39)	Y332F	probably benign	Het
Fastkd3	T	C	13: 68,737,499 (GRCm39)	I588T	probably benign	Het
Galnt9	G	A	5: 110,737,694 (GRCm39)	V217I	probably benign	Het
Gm973	A	T	1: 59,601,888 (GRCm39)	R501*	probably null	Het
Gnptab	C	T	10: 88,215,019 (GRCm39)		probably benign	Het
Gpn1	T	C	5: 31,660,761 (GRCm39)	F184S	probably damaging	Het
Imp3	G	T	9: 56,845,007 (GRCm39)	V73L	probably benign	Het
Ipo11	T	C	13: 107,032,365 (GRCm39)	D259G	probably null	Het
Jag1	T	C	2: 136,948,802 (GRCm39)	S142G	probably benign	Het
Klhl5	A	T	5: 65,289,098 (GRCm39)	E120V	probably benign	Het
Lct	C	A	1: 128,228,197 (GRCm39)	V1099L	probably benign	Het
Lrba	G	C	3: 86,235,633 (GRCm39)	W912C	probably damaging	Het
Lss	C	T	10: 76,383,305 (GRCm39)	T535I	probably damaging	Het
Mcts2	T	C	2: 152,529,297 (GRCm39)	I36T	probably benign	Het
Meikin	T	A	11: 54,302,738 (GRCm39)	N383K	probably benign	Het
Myo1g	T	C	11: 6,461,055 (GRCm39)	Y663C	probably damaging	Het
Nadk2	T	A	15: 9,108,342 (GRCm39)	M419K	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nfat5	T	C	8: 108,020,515 (GRCm39)	S20P	probably damaging	Het
Nlrp1a	C	T	11: 71,014,119 (GRCm39)	C377Y	probably damaging	Het
Nlrp9a	T	C	7: 26,250,463 (GRCm39)	V76A	probably damaging	Het
Nrap	C	A	19: 56,366,567 (GRCm39)	A341S	probably benign	Het
Ntng2	T	C	2: 29,117,732 (GRCm39)	S239G	probably damaging	Het
Nup188	T	A	2: 30,197,566 (GRCm39)	C207S	possibly damaging	Het
Or10a4	T	C	7: 106,697,619 (GRCm39)	*316R	probably null	Het
Or10ak7	T	A	4: 118,791,146 (GRCm39)	I300F	possibly damaging	Het
Or1j17	T	C	2: 36,578,107 (GRCm39)	I31T	probably benign	Het
Or2ag1	T	C	7: 106,473,474 (GRCm39)		probably benign	Het
Or5b118	T	A	19: 13,448,337 (GRCm39)	M1K	probably null	Het
Or8c13	A	C	9: 38,091,318 (GRCm39)	V267G	probably damaging	Het
Or8k31-ps1	C	T	2: 86,356,150 (GRCm39)	V124I	probably damaging	Het
Pcdhgb2	C	A	18: 37,823,159 (GRCm39)	A50E	probably damaging	Het
Pgap1	A	T	1: 54,582,220 (GRCm39)	M209K	possibly damaging	Het
Plbd1	T	A	6: 136,589,829 (GRCm39)	D463V	probably damaging	Het
Plcg2	T	A	8: 118,310,288 (GRCm39)	I380N	probably damaging	Het
Pnpt1	T	C	11: 29,087,285 (GRCm39)	W184R	probably damaging	Het
Pptc7	G	A	5: 122,451,840 (GRCm39)	V202I	probably benign	Het
Prpf6	C	T	2: 181,282,389 (GRCm39)	A510V	probably damaging	Het
Prr5l	T	C	2: 101,559,777 (GRCm39)	Y235C	probably benign	Het
Ptprk	T	C	10: 28,450,905 (GRCm39)	V1022A	probably benign	Het
Rmnd1	T	C	10: 4,360,753 (GRCm39)	K348E	probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,229,136 (GRCm39)		probably benign	Het
Sacs	T	A	14: 61,429,241 (GRCm39)	N433K	probably benign	Het
Scyl1	T	C	19: 5,810,057 (GRCm39)	T590A	probably benign	Het
Sdhd	A	G	9: 50,508,533 (GRCm39)	V111A	possibly damaging	Het
Sec24b	G	T	3: 129,827,509 (GRCm39)	P330Q	probably benign	Het
Serpinb6d	C	T	13: 33,848,128 (GRCm39)	P31S	probably damaging	Het
Slc26a9	A	T	1: 131,687,211 (GRCm39)	R457W	probably damaging	Het
Slc5a8	G	A	10: 88,755,364 (GRCm39)	M490I	probably benign	Het
Slx4	A	G	16: 3,806,844 (GRCm39)	I533T	probably benign	Het
Slx4ip	T	A	2: 136,888,650 (GRCm39)	F110L	probably benign	Het
Smchd1	T	C	17: 71,652,359 (GRCm39)	R2000G	probably benign	Het
Snx8	T	C	5: 140,346,008 (GRCm39)	E75G	possibly damaging	Het
Stab2	C	A	10: 86,735,705 (GRCm39)	C1292F	probably damaging	Het
Swt1	A	T	1: 151,270,364 (GRCm39)	M617K	possibly damaging	Het
Thoc2l	A	G	5: 104,670,229 (GRCm39)	T1584A	probably benign	Het
Tiam2	T	A	17: 3,568,687 (GRCm39)	I1611N	possibly damaging	Het
Tmem63b	T	G	17: 45,972,748 (GRCm39)	N682T	probably benign	Het
Trio	C	T	15: 27,871,273 (GRCm39)	V674M	probably damaging	Het
Trpc3	G	A	3: 36,704,286 (GRCm39)	T557M	possibly damaging	Het
Vac14	T	G	8: 111,397,674 (GRCm39)	L463R	probably damaging	Het
Vmn2r43	C	T	7: 8,256,379 (GRCm39)		probably null	Het
Wdr49	A	T	3: 75,265,751 (GRCm39)	Y232N	possibly damaging	Het
Wdr90	T	C	17: 26,064,367 (GRCm39)	M1835V	probably benign	Het
Xpc	T	C	6: 91,469,320 (GRCm39)	E809G	probably damaging	Het
Zfhx3	A	T	8: 109,675,493 (GRCm39)	Q2181L	probably damaging	Het
Zfp442	T	C	2: 150,251,201 (GRCm39)	T234A	probably benign	Het
Zfp764	A	T	7: 127,004,450 (GRCm39)	M227K	probably benign	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	probably benign	Het
Zfp957	A	G	14: 79,450,750 (GRCm39)	S350P	unknown	Het
Zscan29	T	A	2: 120,999,761 (GRCm39)	K147*	probably null	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
R1866:Rbl2	UTSW	8	91,839,157 (GRCm39)	missense	probably benign	0.00
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
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'- TGGATGCTGATTGAACTGTGAC -3'
(R):5'- ACTCTTTGCTGCTACTTGGG -3'

Sequencing Primer
(F):5'- GAACTGTGACTTTTCTAACCCTGTAG -3'
(R):5'- GAGCACAGCTTACTCTTTCAGAGG -3'

Posted On

2019-06-26