Mutagenetix > Incidental Mutation

Incidental Mutation 'R0165:Rbl2'

24109

Institutional Source

Beutler Lab

Gene Symbol

Rbl2

Ensembl Gene

ENSMUSG00000031666

Gene Name

RB transcriptional corepressor like 2

Synonyms

p130, Rb2

MMRRC Submission

038441-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0165 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

91070057-91123844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91074176 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 89 (Y89N)

Ref Sequence

ENSEMBL: ENSMUSP00000147579 (fasta)

Gene Model

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

AlphaFold

Q64700

Predicted Effect

probably damaging
Transcript: ENSMUST00000034091
AA Change: Y89N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: Y89N

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

noncoding transcript
Transcript: ENSMUST00000141351

Predicted Effect

probably damaging
Transcript: ENSMUST00000209518
AA Change: Y89N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210533

Predicted Effect

probably damaging
Transcript: ENSMUST00000211136
AA Change: Y89N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.9305

Coding Region Coverage

1x: 99.4%
3x: 98.5%
10x: 96.2%
20x: 91.4%

Validation Efficiency

96% (81/84)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,216,382	V1413M	probably damaging	Het
2700049A03Rik	T	C	12: 71,167,150	I717T	possibly damaging	Het
3632451O06Rik	A	G	14: 49,773,786	S155P	probably benign	Het
6430571L13Rik	A	G	9: 107,346,184		probably benign	Het
Abca15	T	A	7: 120,350,903		probably benign	Het
Abca6	A	G	11: 110,219,604	V573A	possibly damaging	Het
Adgrl2	A	G	3: 148,852,863		probably benign	Het
Agap3	A	G	5: 24,479,745	T544A	probably damaging	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Akr1c20	T	C	13: 4,523,296	T7A	probably benign	Het
Ankrd26	A	G	6: 118,540,484	S459P	probably benign	Het
Ascc3	T	A	10: 50,842,127		probably null	Het
Brd1	T	C	15: 88,729,777	N305S	probably damaging	Het
Catip	T	A	1: 74,368,469	L320Q	possibly damaging	Het
Cttnbp2	G	A	6: 18,435,410	Q150*	probably null	Het
Cyp2d22	T	G	15: 82,373,280	N228T	probably benign	Het
Dapk1	T	C	13: 60,761,593	V1340A	probably benign	Het
Dcaf4	G	A	12: 83,535,988		probably benign	Het
Ddhd1	G	A	14: 45,595,592	T849M	probably damaging	Het
Dnah6	A	G	6: 73,021,323	S3987P	probably benign	Het
Dst	C	A	1: 34,154,646		probably benign	Het
Epha2	T	C	4: 141,321,892		probably null	Het
Ern2	T	C	7: 122,179,779	T281A	probably benign	Het
Extl1	A	G	4: 134,357,703	F652S	probably damaging	Het
Gckr	A	G	5: 31,326,948	S541G	possibly damaging	Het
Gdap1l1	A	G	2: 163,451,499		probably null	Het
Gm7535	T	C	17: 17,911,175		probably benign	Het
Gmps	T	A	3: 63,993,954	I398N	probably damaging	Het
Igf2r	A	G	17: 12,698,527	V1556A	probably benign	Het
Il3ra	T	A	14: 14,350,967	N283K	probably benign	Het
Ist1	A	G	8: 109,675,366		probably benign	Het
Lama3	A	T	18: 12,524,810	I1934F	probably damaging	Het
Lars	A	T	18: 42,202,697	M1118K	possibly damaging	Het
Lpin2	C	T	17: 71,246,519	S846L	probably damaging	Het
Lrrc4b	C	A	7: 44,462,315	T537K	probably damaging	Het
Ltn1	G	A	16: 87,405,519		probably benign	Het
Meiob	A	G	17: 24,835,161	T401A	probably benign	Het
Mettl21e	G	A	1: 44,211,123	T41M	probably damaging	Het
Miga1	C	T	3: 152,290,843	E323K	probably damaging	Het
Ndufs1	A	T	1: 63,159,748		probably null	Het
Olfr486	T	C	7: 108,172,675	D23G	probably benign	Het
Otog	G	A	7: 46,304,231	V2638M	probably damaging	Het
Parp6	T	C	9: 59,632,925	Y274H	probably damaging	Het
Prom2	A	T	2: 127,539,514		probably benign	Het
Prune2	T	A	19: 17,122,610	M1826K	probably benign	Het
Qk	T	A	17: 10,238,963	D159V	probably damaging	Het
Rab12	A	T	17: 66,500,317	I139N	probably damaging	Het
Rab25	T	A	3: 88,548,055	E7D	probably benign	Het
Rala	A	T	13: 17,888,589	V139E	probably benign	Het
Ralgapa2	A	G	2: 146,388,487		probably benign	Het
Rho	A	T	6: 115,932,227	I75F	probably damaging	Het
Slc38a4	C	A	15: 97,008,949	A303S	probably benign	Het
Slc6a15	A	G	10: 103,409,809	D551G	probably null	Het
Smyd3	T	C	1: 179,043,872	N314S	probably benign	Het
Speer4f1	T	A	5: 17,479,514	L180*	probably null	Het
Stat6	T	C	10: 127,657,227	V576A	probably damaging	Het
Strn	T	C	17: 78,677,374	D127G	possibly damaging	Het
Syne1	T	C	10: 5,033,096	R8610G	probably benign	Het
Tbc1d7	A	C	13: 43,153,202		probably null	Het
Tcf3	C	T	10: 80,412,997	R548Q	probably damaging	Het
Tlr9	C	A	9: 106,226,087	A859D	probably benign	Het
Tmem106c	T	A	15: 97,968,139		probably benign	Het
Tmprss11c	A	T	5: 86,231,927		probably benign	Het
Tnfsf18	A	G	1: 161,494,731	R7G	probably benign	Het
Tnrc6b	T	A	15: 80,858,670		probably null	Het
Trpm7	A	T	2: 126,797,513	F1684I	probably damaging	Het
Ttbk1	C	A	17: 46,478,938	R133L	possibly damaging	Het
Ttn	A	G	2: 76,721,342	S22962P	probably damaging	Het
Ube2q1	T	A	3: 89,776,153	L135Q	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717	A182T	probably benign	Het
Vwce	T	C	19: 10,659,973		probably benign	Het
Wdhd1	A	G	14: 47,267,068	S350P	probably benign	Het
Zbtb21	A	G	16: 97,951,404	S560P	probably damaging	Het

Other mutations in Rbl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:Rbl2	APN	8	91085445	missense	probably damaging	1.00
IGL01084:Rbl2	APN	8	91122313	missense	probably damaging	0.99
IGL01317:Rbl2	APN	8	91100057	missense	probably damaging	1.00
IGL01637:Rbl2	APN	8	91106438	missense	probably benign
IGL01843:Rbl2	APN	8	91090216	missense	probably benign	0.11
IGL01884:Rbl2	APN	8	91096836	missense	probably damaging	1.00
IGL02071:Rbl2	APN	8	91102198	missense	probably damaging	1.00
IGL02588:Rbl2	APN	8	91087084	missense	probably damaging	0.99
IGL03027:Rbl2	APN	8	91078906	missense	possibly damaging	0.92
IGL03162:Rbl2	APN	8	91085702	missense	probably benign	0.01
IGL03200:Rbl2	APN	8	91096767	missense	probably benign	0.00
R0238:Rbl2	UTSW	8	91106507	missense	probably damaging	0.99
R0238:Rbl2	UTSW	8	91106507	missense	probably damaging	0.99
R0317:Rbl2	UTSW	8	91087144	missense	probably benign	0.00
R0539:Rbl2	UTSW	8	91112505	splice site	probably benign
R1532:Rbl2	UTSW	8	91106417	missense	probably benign	0.01
R1696:Rbl2	UTSW	8	91085724	missense	probably benign	0.12
R1852:Rbl2	UTSW	8	91095563	missense	possibly damaging	0.84
R1866:Rbl2	UTSW	8	91112529	missense	probably benign	0.00
R1975:Rbl2	UTSW	8	91085462	missense	probably benign
R2062:Rbl2	UTSW	8	91106739	missense	probably damaging	1.00
R2180:Rbl2	UTSW	8	91090055	missense	possibly damaging	0.51
R2423:Rbl2	UTSW	8	91087146	missense	probably benign	0.34
R3109:Rbl2	UTSW	8	91102235	missense	probably benign
R4356:Rbl2	UTSW	8	91107107	missense	probably damaging	0.97
R4692:Rbl2	UTSW	8	91122419	missense	probably damaging	1.00
R4707:Rbl2	UTSW	8	91085568	missense	probably damaging	1.00
R4784:Rbl2	UTSW	8	91085568	missense	probably damaging	1.00
R5084:Rbl2	UTSW	8	91115131	missense	probably benign	0.43
R5432:Rbl2	UTSW	8	91102283	missense	probably benign	0.01
R5493:Rbl2	UTSW	8	91115819	missense	probably damaging	1.00
R5546:Rbl2	UTSW	8	91078932	missense	probably benign	0.00
R5918:Rbl2	UTSW	8	91090130	missense	probably benign	0.02
R6186:Rbl2	UTSW	8	91106730	missense	probably damaging	1.00
R6257:Rbl2	UTSW	8	91115678	missense	probably damaging	1.00
R6526:Rbl2	UTSW	8	91096839	missense	probably benign	0.04
R6546:Rbl2	UTSW	8	91070370	missense	probably benign
R6714:Rbl2	UTSW	8	91106787	missense	possibly damaging	0.91
R7214:Rbl2	UTSW	8	91083429	critical splice donor site	probably null
R7286:Rbl2	UTSW	8	91102294	nonsense	probably null
R7290:Rbl2	UTSW	8	91115041	missense	probably benign	0.33
R7315:Rbl2	UTSW	8	91076012	missense	probably damaging	0.96
R7524:Rbl2	UTSW	8	91115193	missense	probably benign
R8060:Rbl2	UTSW	8	91096869	critical splice donor site	probably null
R8071:Rbl2	UTSW	8	91113989	missense	probably damaging	1.00
R8154:Rbl2	UTSW	8	91107197	missense	probably damaging	1.00
R8302:Rbl2	UTSW	8	91085445	missense	probably damaging	1.00
R8344:Rbl2	UTSW	8	91115759	missense	possibly damaging	0.89
R8724:Rbl2	UTSW	8	91115209	missense	possibly damaging	0.54
R8822:Rbl2	UTSW	8	91106718	missense	possibly damaging	0.95
R9186:Rbl2	UTSW	8	91101378	missense	probably damaging	1.00
R9729:Rbl2	UTSW	8	91078899	missense	probably damaging	0.97
R9801:Rbl2	UTSW	8	91095601	missense	probably benign	0.00
X0023:Rbl2	UTSW	8	91090079	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GCGTAGCTCAGCATGGCAGG -3'
(R):5'- TGGTAAAGGAAAACCACGACTCAGATTC -3'

Sequencing Primer
(F):5'- cataaaactctgccctgcttc -3'
(R):5'- CATGTTAGATGCTCACAAAACGG -3'

Posted On

2013-04-16