Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03200:Rbl2'

412950

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbl2

Ensembl Gene

ENSMUSG00000031666

Gene Name

RB transcriptional corepressor like 2

Synonyms

p130, Rb2, retinoblastoma-like 2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03200

Quality Score

Status

Chromosome

Chromosomal Location

91796685-91850472 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91823395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 441 (I441T)

Ref Sequence

ENSEMBL: ENSMUSP00000147579 (fasta)

Gene Model

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

AlphaFold

Q64700

Predicted Effect

probably benign
Transcript: ENSMUST00000034091
AA Change: I484T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: I484T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000211136
AA Change: I441T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,928,989 (GRCm39)		probably benign	Het
Degs1	A	T	1: 182,107,256 (GRCm39)	M1K	probably null	Het
Eif3e	A	T	15: 43,115,657 (GRCm39)	W370R	probably damaging	Het
H2-M10.6	G	A	17: 37,124,908 (GRCm39)	G275E	probably damaging	Het
Itga8	C	T	2: 12,196,010 (GRCm39)	V647I	probably benign	Het
Kcnip2	T	G	19: 45,782,502 (GRCm39)	K190Q	probably damaging	Het
Mbd1	T	G	18: 74,409,502 (GRCm39)	S251A	probably benign	Het
Mcpt9	T	A	14: 56,264,390 (GRCm39)	H235L	probably benign	Het
Ndst1	A	T	18: 60,832,611 (GRCm39)	I573N	possibly damaging	Het
Ntan1	C	T	16: 13,652,591 (GRCm39)	P229L	probably damaging	Het
Spmap2l	T	A	5: 77,208,711 (GRCm39)	V413D	possibly damaging	Het
Sulf1	C	T	1: 12,856,841 (GRCm39)	R31*	probably null	Het
Taok1	G	A	11: 77,466,478 (GRCm39)	Q124*	probably null	Het
Tmem140	A	G	6: 34,849,814 (GRCm39)	E110G	possibly damaging	Het
U2surp	G	A	9: 95,373,444 (GRCm39)	R242*	probably null	Het
Ywhag	G	A	5: 135,939,914 (GRCm39)	R227*	probably null	Het
Zfp456	C	T	13: 67,514,596 (GRCm39)	R370H	probably benign	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
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
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

Posted On

2016-08-02