Mutagenetix > Incidental Mutations

Incidental Mutation 'R0317:Rbl2'

25461

Institutional Source

Beutler Lab

Gene Symbol

Rbl2

Ensembl Gene

ENSMUSG00000031666

Gene Name

RB transcriptional corepressor like 2

Synonyms

p130, Rb2

MMRRC Submission

038527-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0317 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91070057-91123844 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91087144 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 339 (D339G)

Ref Sequence

ENSEMBL: ENSMUSP00000147579 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034091
AA Change: D382G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: D382G

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: ENSMUST00000209518
AA Change: D382G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000211136
AA Change: D339G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.8%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,293,459	V1774A	probably damaging	Het
Adam34	G	A	8: 43,652,251	P119L	probably benign	Het
Ap3b2	T	C	7: 81,463,681		probably null	Het
Arfip2	G	A	7: 105,637,223	T124M	probably damaging	Het
Arhgef26	T	C	3: 62,423,544	S560P	probably damaging	Het
Bcl11a	A	T	11: 24,172,697		probably null	Het
Cab39	A	G	1: 85,849,160	E322G	probably damaging	Het
Cad	C	A	5: 31,072,321	P1382Q	probably benign	Het
Cc2d2a	T	C	5: 43,706,901		probably null	Het
Cela2a	A	T	4: 141,821,700		probably null	Het
Ces1e	A	C	8: 93,224,039	I38S	probably benign	Het
Ces1f	A	T	8: 93,263,391	F364I	probably benign	Het
Chgb	A	G	2: 132,793,811	T558A	probably benign	Het
Cnpy4	C	T	5: 138,192,812	Q217*	probably null	Het
Col4a3bp	C	T	13: 96,634,121	R487*	probably null	Het
Crlf1	A	G	8: 70,498,599	T43A	probably benign	Het
Dnah7b	T	A	1: 46,134,656	M707K	probably damaging	Het
Ets2	G	A	16: 95,712,149	S123N	probably damaging	Het
Fam196b	C	A	11: 34,402,826	D289E	possibly damaging	Het
Fry	T	C	5: 150,471,468	F304S	probably damaging	Het
Gadd45gip1	G	A	8: 84,834,116	R120H	probably benign	Het
Gbf1	A	G	19: 46,254,020	T96A	probably benign	Het
Ggn	T	A	7: 29,171,090	M1K	probably null	Het
Gm5239	A	G	18: 35,536,916	T112A	probably benign	Het
Kif1bp	A	T	10: 62,578,082		probably null	Het
Lrrc15	A	T	16: 30,273,743	H259Q	probably benign	Het
Lysmd4	A	G	7: 67,226,297	Y236C	probably damaging	Het
Med29	T	C	7: 28,386,859	T175A	possibly damaging	Het
Mfsd12	G	T	10: 81,357,799	D68Y	probably damaging	Het
Myh1	T	C	11: 67,217,512	L1308P	probably damaging	Het
Nphp4	T	A	4: 152,551,931		probably null	Het
Olfr948	A	G	9: 39,319,461	I51T	probably benign	Het
Pdhx	A	G	2: 103,028,280	V393A	probably benign	Het
Pgm5	A	G	19: 24,824,399	I155T	possibly damaging	Het
Pgr	A	T	9: 8,965,022	I889F	probably benign	Het
Phactr4	T	A	4: 132,386,930	K51I	probably damaging	Het
Pum2	T	A	12: 8,728,754	I468K	possibly damaging	Het
Rab11a	A	G	9: 64,725,553	S24P	probably damaging	Het
Rasef	T	C	4: 73,748,562	Q160R	probably damaging	Het
Recql5	A	G	11: 115,894,673	S666P	probably benign	Het
Rfc1	A	T	5: 65,296,052		probably null	Het
Scarb1	A	G	5: 125,289,692	V59A	probably damaging	Het
Slc2a4	C	T	11: 69,946,356	V85M	probably damaging	Het
Slc6a12	A	G	6: 121,358,625	I291V	possibly damaging	Het
Slco3a1	A	C	7: 74,504,426	Y104D	probably damaging	Het
Suz12	T	A	11: 79,999,078	D13E	probably damaging	Het
Tlr1	G	T	5: 64,925,967	C422*	probably null	Het
Tmco1	T	C	1: 167,325,893	V114A	probably damaging	Het
Trpa1	T	C	1: 14,881,632	T948A	probably benign	Het
Tub	A	T	7: 109,020,927	N93Y	probably damaging	Het
Ufsp2	G	A	8: 45,992,233		probably null	Het
Veph1	T	C	3: 66,171,975	D373G	probably benign	Het
Vmn1r206	A	G	13: 22,620,960	S26P	possibly damaging	Het
Vmn2r1	T	C	3: 64,081,819	S60P	possibly damaging	Het
Wdcp	A	G	12: 4,851,583	S480G	probably benign	Het
Wnk4	T	C	11: 101,268,804	S612P	probably benign	Het
Zfp503	T	C	14: 21,986,459	K130E	probably benign	Het
Zkscan16	G	A	4: 58,957,602	C628Y	possibly 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
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
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
X0023:Rbl2	UTSW	8	91090079	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GCGGTCCTGTTTCCCCATAGTAAG -3'
(R):5'- CAAGTGTCTCTGTGACCACTGTGC -3'

Sequencing Primer
(F):5'- TCCCCATAGTAAGGCCGTTAATAAG -3'
(R):5'- AAacacacacacacacacacac -3'

Posted On

2013-04-16