Mutagenetix > Incidental Mutation

Incidental Mutation 'R7524:Rbl2'

582859

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

045596-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7524 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91796685-91850472 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91841821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1006 (I1006V)

Ref Sequence

ENSEMBL: ENSMUSP00000034091 (fasta)

Gene Model

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

AlphaFold

Q64700

Predicted Effect

probably benign
Transcript: ENSMUST00000034091
AA Change: I1006V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: I1006V

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

probably benign
Transcript: ENSMUST00000209518
AA Change: I996V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000211136
AA Change: I963V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0600

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	C	T	8: 56,325,395 (GRCm39)	C353Y	probably damaging	Het
Afap1l2	T	A	19: 56,906,543 (GRCm39)	E452V	probably damaging	Het
Ak6	A	G	13: 100,800,415 (GRCm39)	D45G	probably benign	Het
Arhgap17	G	A	7: 122,905,643 (GRCm39)	P334L	probably damaging	Het
Asns	G	T	6: 7,677,259 (GRCm39)		probably null	Het
Bend7	A	G	2: 4,804,791 (GRCm39)	T424A	probably benign	Het
Btbd2	C	T	10: 80,482,278 (GRCm39)	E241K	probably damaging	Het
Commd2	A	C	3: 57,557,569 (GRCm39)	L99W	probably damaging	Het
Cpne9	A	T	6: 113,279,025 (GRCm39)	D473V	probably damaging	Het
Cuzd1	A	T	7: 130,913,347 (GRCm39)	F423L	probably damaging	Het
Cyp2d9	T	C	15: 82,340,146 (GRCm39)	F390L	probably damaging	Het
Dcaf5	T	A	12: 80,423,470 (GRCm39)	Q234L	probably benign	Het
Dennd3	T	G	15: 73,396,095 (GRCm39)	Y201*	probably null	Het
Dnah17	T	C	11: 118,012,307 (GRCm39)	D485G	probably benign	Het
Dnah5	A	T	15: 28,297,212 (GRCm39)	T1469S	possibly damaging	Het
Dnah6	T	C	6: 73,095,082 (GRCm39)	D2167G	probably damaging	Het
Dst	T	C	1: 34,330,974 (GRCm39)	V4921A	possibly damaging	Het
Ephb2	A	G	4: 136,387,020 (GRCm39)	Y736H	probably damaging	Het
Eri2	C	G	7: 119,384,972 (GRCm39)	V510L	probably benign	Het
Eya2	G	A	2: 165,611,246 (GRCm39)		probably null	Het
Fastkd5	G	T	2: 130,458,048 (GRCm39)	Q181K	probably benign	Het
Fcgbp	T	C	7: 27,802,391 (GRCm39)	S1440P	probably damaging	Het
Fkbp9	G	A	6: 56,845,725 (GRCm39)	V354M	probably damaging	Het
Frmpd1	T	A	4: 45,271,181 (GRCm39)	S304T	probably benign	Het
Gtf2a2	T	A	9: 69,922,629 (GRCm39)	Y3*	probably null	Het
Hagh	G	A	17: 25,080,314 (GRCm39)	V226I	probably benign	Het
Hemk1	T	A	9: 107,205,484 (GRCm39)	I293F	probably benign	Het
Kcna3	A	G	3: 106,944,523 (GRCm39)	E262G	probably damaging	Het
Kcnt2	A	T	1: 140,511,793 (GRCm39)	T983S	probably damaging	Het
Klhdc3	A	T	17: 46,989,340 (GRCm39)	H7Q	probably damaging	Het
Knl1	A	T	2: 118,896,460 (GRCm39)	Q94L	probably damaging	Het
Krt12	T	C	11: 99,310,485 (GRCm39)	D224G	probably damaging	Het
Lats1	T	A	10: 7,577,742 (GRCm39)	S289T	possibly damaging	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Map1a	G	A	2: 121,120,293 (GRCm39)	V60M	probably damaging	Het
Mms22l	T	A	4: 24,536,138 (GRCm39)	F536I	possibly damaging	Het
Ms4a14	T	C	19: 11,281,200 (GRCm39)	T453A	unknown	Het
Muc3a	A	C	5: 137,245,020 (GRCm39)	I151S	probably benign	Het
Myorg	C	A	4: 41,498,779 (GRCm39)	V284L	probably benign	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or4c112	T	A	2: 88,854,315 (GRCm39)	I11L	probably benign	Het
Or4c125	A	G	2: 89,170,221 (GRCm39)	C142R	probably benign	Het
Or4e5	T	C	14: 52,727,750 (GRCm39)	I224V	probably damaging	Het
Or5ar1	T	A	2: 85,671,701 (GRCm39)	M145L	probably benign	Het
Or6z7	T	C	7: 6,483,586 (GRCm39)	N190D	probably benign	Het
Or7a42	T	A	10: 78,791,325 (GRCm39)	Y95*	probably null	Het
Pcdhgb4	A	T	18: 37,854,661 (GRCm39)	D352V	probably benign	Het
Pced1a	A	G	2: 130,263,948 (GRCm39)	F235L	probably benign	Het
Pclo	A	G	5: 14,728,317 (GRCm39)	I2392V	unknown	Het
Pld1	A	T	3: 28,078,470 (GRCm39)	D43V	possibly damaging	Het
Ppp1r1b	C	A	11: 98,241,720 (GRCm39)	A51D	possibly damaging	Het
Prr23a1	T	A	9: 98,724,917 (GRCm39)	L93H	probably damaging	Het
Psg20	T	C	7: 18,418,584 (GRCm39)	D61G	probably benign	Het
Rab40b	T	A	11: 121,278,878 (GRCm39)	I31F	probably damaging	Het
Rasd2	T	C	8: 75,948,709 (GRCm39)	F212L	probably benign	Het
Sema6c	A	G	3: 95,074,371 (GRCm39)	E59G	probably benign	Het
Slc22a2	G	T	17: 12,824,944 (GRCm39)	V269L	possibly damaging	Het
Slc2a1	C	T	4: 118,989,809 (GRCm39)	P149S	probably damaging	Het
Smad4	T	G	18: 73,808,942 (GRCm39)	E108D	probably damaging	Het
Sorbs2	T	A	8: 46,248,693 (GRCm39)	I648K	probably benign	Het
Suclg1	A	T	6: 73,240,824 (GRCm39)	I118F	probably damaging	Het
Tasor	T	A	14: 27,188,160 (GRCm39)	C869S	probably damaging	Het
Tet2	A	G	3: 133,185,990 (GRCm39)	I1149T	probably benign	Het
Tfr2	T	A	5: 137,569,751 (GRCm39)	Y82*	probably null	Het
Tfr2	G	T	5: 137,581,751 (GRCm39)	V613L	probably benign	Het
Tg	A	T	15: 66,568,010 (GRCm39)	M1305L	probably benign	Het
Tmem176a	A	T	6: 48,821,039 (GRCm39)	M170L	probably benign	Het
Trim71	T	C	9: 114,342,230 (GRCm39)	N684S	probably benign	Het
Tspan9	A	G	6: 127,942,214 (GRCm39)	I212T	probably benign	Het
Ttn	A	G	2: 76,773,319 (GRCm39)	V2361A	possibly damaging	Het
Uqcrc1	C	T	9: 108,765,827 (GRCm39)	T14M	possibly damaging	Het
Vmn2r11	T	C	5: 109,201,848 (GRCm39)	I219V	probably benign	Het
Vmn2r76	T	C	7: 85,874,577 (GRCm39)	H800R	probably benign	Het
Vmn2r76	C	T	7: 85,879,374 (GRCm39)	G309R	probably benign	Het
Xpc	A	T	6: 91,476,513 (GRCm39)	C529S	probably benign	Het
Zfp455	T	A	13: 67,355,688 (GRCm39)	S254T	possibly damaging	Het
Zfp746	T	C	6: 48,041,823 (GRCm39)	H301R	possibly damaging	Het
Zyg11a	A	T	4: 108,049,271 (GRCm39)	I490N	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
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
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
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'- ACGAGTGCTTTATAGAGCTGTTC -3'
(R):5'- CCTTGATACTCGTGTTGGAGAC -3'

Sequencing Primer
(F):5'- TGTTTTCAAACAATCCAGACCGG -3'
(R):5'- ATACTCGTGTTGGAGACTGTTTAAAG -3'

Posted On

2019-10-17