Mutagenetix > Incidental Mutation

Incidental Mutation 'R7290:Rbl2'

566321

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

045362-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7290 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91796685-91850472 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 91841669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 955 (A955D)

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: A955D

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: A955D

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: A945D

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000211136
AA Change: A912D

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	A	11: 109,921,714 (GRCm39)	M1447L	probably benign	Het
Adam30	G	A	3: 98,070,257 (GRCm39)	V697I	probably benign	Het
Adamts12	A	G	15: 11,277,452 (GRCm39)	N689D	probably benign	Het
Adamts15	T	C	9: 30,813,906 (GRCm39)	K753R	probably benign	Het
Adra2a	T	C	19: 54,034,835 (GRCm39)	F64L	probably damaging	Het
Ankub1	A	G	3: 57,580,345 (GRCm39)	L104P	probably damaging	Het
Arel1	A	G	12: 84,988,719 (GRCm39)	V10A	probably benign	Het
Atad2	A	T	15: 57,962,047 (GRCm39)	N1165K	probably benign	Het
Atp6v0d2	T	A	4: 19,880,060 (GRCm39)	D279V	probably benign	Het
Cadps	A	T	14: 12,616,099 (GRCm38)	D310E	probably damaging	Het
Caskin2	T	C	11: 115,695,615 (GRCm39)	I249V	possibly damaging	Het
Cdh23	T	C	10: 60,212,620 (GRCm39)	N1598S	probably benign	Het
Cep250	A	T	2: 155,834,682 (GRCm39)	Q2202H	probably benign	Het
Ces5a	T	A	8: 94,261,311 (GRCm39)	T35S	probably damaging	Het
Cnot11	G	A	1: 39,579,020 (GRCm39)	W295*	probably null	Het
Cntnap5a	G	T	1: 116,149,619 (GRCm39)	W565L	probably damaging	Het
Dgka	T	C	10: 128,569,468 (GRCm39)	E148G	probably damaging	Het
Dnah14	G	A	1: 181,455,739 (GRCm39)	D955N	probably benign	Het
Erbin	G	A	13: 103,998,834 (GRCm39)	T184I	probably damaging	Het
Fam20c	G	T	5: 138,793,309 (GRCm39)	G477W	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fgfr4	T	C	13: 55,309,262 (GRCm39)	V433A	probably benign	Het
Gal3st1	A	T	11: 3,948,093 (GRCm39)	Q100L	possibly damaging	Het
Gfra2	T	C	14: 71,163,380 (GRCm39)	F221S	probably damaging	Het
Gm19965	G	A	1: 116,748,921 (GRCm39)	V201M		Het
Gnb1l	A	T	16: 18,382,806 (GRCm39)	T282S	probably benign	Het
Gpr171	A	T	3: 59,005,147 (GRCm39)	N209K	probably benign	Het
Greb1	G	A	12: 16,761,739 (GRCm39)	T547I	probably damaging	Het
Ifi214	A	T	1: 173,357,097 (GRCm39)	V2E	probably benign	Het
Ighv1-71	T	C	12: 115,706,267 (GRCm39)	M1V	probably null	Het
Itm2b	C	T	14: 73,605,785 (GRCm39)	G67D	probably damaging	Het
Kif21a	A	T	15: 90,851,432 (GRCm39)	C995*	probably null	Het
Kifc2	A	T	15: 76,544,904 (GRCm39)	Y13F	probably damaging	Het
Lamb1	T	A	12: 31,315,595 (GRCm39)	V59D	probably benign	Het
Lhx1	A	T	11: 84,412,703 (GRCm39)	D163E	probably damaging	Het
Lrrc1	A	T	9: 77,365,121 (GRCm39)	Y187N	probably benign	Het
Map3k1	C	A	13: 111,904,645 (GRCm39)	V380F	probably damaging	Het
Mapk11	T	C	15: 89,028,511 (GRCm39)	D283G	probably damaging	Het
Mccc2	G	T	13: 100,091,207 (GRCm39)	A430D	probably damaging	Het
Mest	A	G	6: 30,747,158 (GRCm39)	N340S	unknown	Het
Mms22l	T	C	4: 24,517,139 (GRCm39)	L340P	probably benign	Het
Mrnip	A	G	11: 50,087,808 (GRCm39)	Y110C	possibly damaging	Het
Mtmr4	A	G	11: 87,502,063 (GRCm39)	T706A	probably benign	Het
Muc21	G	A	17: 35,929,761 (GRCm39)	A1475V	unknown	Het
Ncstn	A	G	1: 171,900,373 (GRCm39)	F234S	probably benign	Het
Nrp1	T	C	8: 129,202,777 (GRCm39)		probably null	Het
Nup37	T	G	10: 88,010,356 (GRCm39)	C217G	probably damaging	Het
Or8g22	A	G	9: 38,958,694 (GRCm39)	L7P	unknown	Het
Pdzrn3	T	C	6: 101,128,206 (GRCm39)	N820S	probably benign	Het
Pgap1	A	T	1: 54,587,225 (GRCm39)	F117Y	possibly damaging	Het
Phip	A	T	9: 82,753,346 (GRCm39)	F1799L	possibly damaging	Het
Ppm1f	T	A	16: 16,728,819 (GRCm39)	F74I	probably benign	Het
Prpf8	C	A	11: 75,384,783 (GRCm39)	N775K	possibly damaging	Het
Ptdss2	T	C	7: 140,731,693 (GRCm39)	I167T	possibly damaging	Het
Ptpn18	G	A	1: 34,501,892 (GRCm39)		probably null	Het
Rgl1	A	G	1: 152,420,146 (GRCm39)	S366P	possibly damaging	Het
Rit2	A	T	18: 31,376,221 (GRCm39)	M38K	possibly damaging	Het
Robo1	A	G	16: 72,801,408 (GRCm39)	M1011V	probably benign	Het
Senp6	A	T	9: 80,043,797 (GRCm39)	E809D	probably benign	Het
Stard3	G	A	11: 98,269,045 (GRCm39)		probably null	Het
Taar3	T	G	10: 23,826,298 (GRCm39)	Y281*	probably null	Het
Tacc2	G	T	7: 130,331,103 (GRCm39)	K352N	probably benign	Het
Tamalin	G	A	15: 101,129,419 (GRCm39)	S234N	probably damaging	Het
Tasor	T	A	14: 27,160,610 (GRCm39)	I124N	probably damaging	Het
Tdpoz4	G	A	3: 93,704,155 (GRCm39)	V151I	not run	Het
Tenm2	A	G	11: 35,914,298 (GRCm39)	L2413P	probably damaging	Het
Tgm6	T	C	2: 129,983,110 (GRCm39)	V233A	probably damaging	Het
Tlx3	G	A	11: 33,153,514 (GRCm39)		probably benign	Het
Tmem94	G	T	11: 115,677,082 (GRCm39)	R118L	possibly damaging	Het
Trim23	C	A	13: 104,323,941 (GRCm39)	H133Q	probably damaging	Het
Unc80	A	T	1: 66,640,356 (GRCm39)	D1421V	probably damaging	Het
Vmn1r172	A	G	7: 23,360,048 (GRCm39)	N311S	unknown	Het
Vps25	T	A	11: 101,149,775 (GRCm39)	L153Q	probably damaging	Het
Wbp1l	G	T	19: 46,611,876 (GRCm39)		probably benign	Het
Ythdc2	A	G	18: 44,970,558 (GRCm39)	I291V	possibly damaging	Het
Zfp2	A	G	11: 50,791,570 (GRCm39)	C158R	probably damaging	Het
Zfp786	G	A	6: 47,796,929 (GRCm39)	P670S	probably damaging	Het
Zfp827	G	A	8: 79,916,442 (GRCm39)	R339H	possibly damaging	Het
Zmym6	C	T	4: 127,017,294 (GRCm39)	A1025V	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TTGGATAATAATCACCACCGCC -3'
(R):5'- CAAACGCTTGGATTTGCTTCC -3'

Sequencing Primer
(F):5'- AATGGTACCCAGGATTGGCC -3'
(R):5'- CAAACGCTTGGATTTGCTTCCTATAG -3'

Posted On

2019-06-26