Mutagenetix > Incidental Mutation

Incidental Mutation 'R7315:Rbl2'

567885

Institutional Source

Beutler Lab

Gene Symbol

Rbl2

Ensembl Gene

ENSMUSG00000031666

Gene Name

RB transcriptional corepressor like 2

Synonyms

p130, Rb2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7315 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91070057-91123844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91076012 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 154 (T154S)

Ref Sequence

ENSEMBL: ENSMUSP00000034091 (fasta)

Gene Model

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

AlphaFold

Q64700

Predicted Effect

probably damaging
Transcript: ENSMUST00000034091
AA Change: T154S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: T154S

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 damaging
Transcript: ENSMUST00000209518
AA Change: T154S

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211136
AA Change: T154S

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	C	7: 120,294,118	I1264L	probably benign	Het
Abcg8	C	A	17: 84,696,714	D484E	probably damaging	Het
Abhd13	T	A	8: 9,987,970	L189H	probably damaging	Het
Acox2	T	C	14: 8,256,139	D60G	probably damaging	Het
Acpp	A	G	9: 104,316,224		probably null	Het
Agpat4	C	T	17: 12,210,298	R146C	probably damaging	Het
Antxrl	T	C	14: 34,071,547	S411P	unknown	Het
B4galt5	A	G	2: 167,301,376	V376A	probably damaging	Het
BB287469	A	G	12: 87,819,703	E128G	unknown	Het
Camk1d	T	C	2: 5,339,230	Y198C	probably damaging	Het
Cd1d1	C	T	3: 86,998,113	R191H	possibly damaging	Het
Cd93	A	G	2: 148,442,541	V295A	probably damaging	Het
Cdc27	G	A	11: 104,515,444	T615I	possibly damaging	Het
Cfap74	T	C	4: 155,463,019	Y1221H	unknown	Het
Col24a1	G	A	3: 145,431,870	S896N	possibly damaging	Het
Cst7	C	A	2: 150,570,583	P22Q	probably benign	Het
Dnah6	C	T	6: 73,084,760	A2781T	probably damaging	Het
Dscaml1	G	A	9: 45,745,125	A1588T	probably benign	Het
Dsg2	A	T	18: 20,579,160	I118F	probably damaging	Het
Eme2	G	A	17: 24,894,866	R62W	probably damaging	Het
Epha3	A	T	16: 63,552,609	D910E	probably benign	Het
Ext1	T	C	15: 53,073,387	D654G	probably damaging	Het
Fam46b	C	T	4: 133,487,084	T422I	probably damaging	Het
Fnip2	A	G	3: 79,506,205		probably null	Het
Gon4l	T	A	3: 88,895,179	H1032Q	probably benign	Het
Ispd	A	G	12: 36,390,374	T94A	probably benign	Het
Kitl	G	A	10: 100,016,112	R31H	unknown	Het
Lcp2	G	A	11: 34,069,906		probably null	Het
Lrp2	T	C	2: 69,491,822	H1921R	probably damaging	Het
Lvrn	A	G	18: 46,876,984	T400A	probably benign	Het
Mak16	G	A	8: 31,164,738	R143*	probably null	Het
Mettl23	A	G	11: 116,849,102	I159V	probably benign	Het
Mr1	T	C	1: 155,129,290	N335D	probably benign	Het
Muc2	T	C	7: 141,690,402	C12R	probably damaging	Het
Myom1	T	C	17: 71,080,897		probably null	Het
Nav2	A	G	7: 49,548,289	N33S	possibly damaging	Het
Ninl	A	G	2: 150,950,050	V851A	probably benign	Het
Nmt1	A	G	11: 103,060,183	N367D	probably benign	Het
Noc2l	T	G	4: 156,241,360	S354R	probably damaging	Het
Olfr104-ps	G	T	17: 37,362,660	C181F	probably damaging	Het
Olfr1302	T	C	2: 111,780,659	V113A	probably damaging	Het
Olfr151	T	C	9: 37,730,576	M136V	probably benign	Het
Olfr198	A	G	16: 59,202,133	F98L	probably benign	Het
Olfr293	T	C	7: 86,664,237	S192P	probably damaging	Het
Olfr70	T	A	4: 43,696,961	I71F	probably damaging	Het
Olfr860	G	T	9: 19,845,835	S261R	probably damaging	Het
Olfr877	A	T	9: 37,855,247	Y143F	probably benign	Het
Opn1sw	A	T	6: 29,379,363	I214N	probably damaging	Het
Papss2	T	C	19: 32,639,225	V217A	possibly damaging	Het
Pes1	A	G	11: 3,976,085	I291M	probably benign	Het
Pqlc2	G	A	4: 139,301,870	T101M	probably damaging	Het
Ptprb	T	A	10: 116,362,379	I1660N	possibly damaging	Het
Rapgef1	C	A	2: 29,734,492	T1030K	probably damaging	Het
Rassf8	A	G	6: 145,815,751	M268V	probably benign	Het
Rgs1	A	G	1: 144,248,899		probably null	Het
Rpgrip1	C	T	14: 52,121,001	T188I	not run	Het
Rrp1b	T	A	17: 32,058,571	F608L	probably benign	Het
Sbp	C	T	17: 23,945,306	A154V	probably benign	Het
Scara3	C	T	14: 65,931,440	E243K	probably damaging	Het
Serpinb6b	A	T	13: 32,972,257	D110V	probably benign	Het
Skiv2l	T	A	17: 34,841,169	D875V	probably benign	Het
Slc2a4	G	C	11: 69,946,433	T59R	probably damaging	Het
Slc4a1	A	G	11: 102,356,484	S462P	probably damaging	Het
Snx33	C	T	9: 56,925,867	R306H	probably damaging	Het
Srf	T	C	17: 46,551,794		probably null	Het
Steap3	A	G	1: 120,227,912	V439A	probably benign	Het
Syt10	C	T	15: 89,814,338	D268N	probably damaging	Het
Terf2	T	C	8: 107,081,217	N242S	probably benign	Het
Tex15	A	G	8: 33,581,516	T2364A	probably benign	Het
Tgfbr2	A	T	9: 116,109,738	H365Q	possibly damaging	Het
Tnrc6c	T	G	11: 117,723,528	N837K	probably benign	Het
Trim67	T	A	8: 124,794,330	S144T	probably benign	Het
Zc3hav1l	T	G	6: 38,295,147	D229A	possibly damaging	Het
Zmym4	A	T	4: 126,882,592	V1184E	probably benign	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
R0165:Rbl2	UTSW	8	91074176	missense	probably damaging	1.00
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
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'- TGGCATTCACTTGTTCTGGC -3'
(R):5'- ATTTCTAACATACGGCAGAGAGC -3'

Sequencing Primer
(F):5'- GCATTCACTTGTTCTGGCATAATATC -3'
(R):5'- GCTAGCCTGGTCTACATAGTGAATC -3'

Posted On

2019-06-26