Mutagenetix > Incidental Mutation

Incidental Mutation 'R2062:Rbl2'

228770

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

040067-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2062 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91796685-91850472 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 91833367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 714 (P714Q)

Ref Sequence

ENSEMBL: ENSMUSP00000147579 (fasta)

Gene Model

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

AlphaFold

Q64700

Predicted Effect

probably damaging
Transcript: ENSMUST00000034091
AA Change: P757Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: P757Q

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

noncoding transcript
Transcript: ENSMUST00000144190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145246

Predicted Effect

probably damaging
Transcript: ENSMUST00000209518
AA Change: P747Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211136
AA Change: P714Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

99% (84/85)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	A	X: 66,964,308 (GRCm39)	I184L	probably benign	Het
A2ml1	A	T	6: 128,529,271 (GRCm39)	M957K	probably benign	Het
Adam7	C	A	14: 68,742,610 (GRCm39)	V668F	probably benign	Het
Adcy7	T	G	8: 89,038,902 (GRCm39)	L306R	probably damaging	Het
Akt3	A	G	1: 176,930,551 (GRCm39)	S136P	possibly damaging	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Ano7	T	C	1: 93,318,035 (GRCm39)	V249A	probably benign	Het
Aox1	T	C	1: 58,098,351 (GRCm39)		probably null	Het
Asah2	A	T	19: 32,002,274 (GRCm39)	V290E	probably damaging	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Atxn2l	T	A	7: 126,095,038 (GRCm39)	K421N	probably damaging	Het
Cars2	T	C	8: 11,597,747 (GRCm39)	I110V	probably damaging	Het
Ccdc74a	A	G	16: 17,467,890 (GRCm39)	N249S	probably benign	Het
Cenpe	T	C	3: 134,928,082 (GRCm39)		probably benign	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Cnep1r1	G	T	8: 88,845,445 (GRCm39)		probably benign	Het
Cyp2d37-ps	C	T	15: 82,574,289 (GRCm39)		noncoding transcript	Het
Cyp3a25	A	G	5: 145,923,779 (GRCm39)		probably benign	Het
Dis3l	G	T	9: 64,246,855 (GRCm39)	Q67K	probably benign	Het
Dnah1	A	G	14: 30,993,086 (GRCm39)	V2936A	probably damaging	Het
Dnah5	C	T	15: 28,366,416 (GRCm39)	R2710C	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
Dvl3	G	A	16: 20,345,101 (GRCm39)	S361N	probably benign	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Eif2ak3	T	C	6: 70,881,181 (GRCm39)	V1085A	probably benign	Het
Eif3b	T	C	5: 140,412,208 (GRCm39)	Y226H	probably damaging	Het
Endov	T	C	11: 119,390,408 (GRCm39)	F12S	probably damaging	Het
Ercc1	A	G	7: 19,088,295 (GRCm39)	*37W	probably null	Het
Evi2a	G	A	11: 79,418,593 (GRCm39)	Q6*	probably null	Het
Faah	C	T	4: 115,855,770 (GRCm39)	V552M	probably damaging	Het
Fat1	T	A	8: 45,477,369 (GRCm39)	N2138K	probably damaging	Het
Fat1	T	A	8: 45,479,741 (GRCm39)	V2929E	probably damaging	Het
Gm2959	A	G	14: 42,235,658 (GRCm39)		noncoding transcript	Het
Gm6327	A	T	16: 12,578,979 (GRCm39)		noncoding transcript	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Gtf2f2	A	G	14: 76,155,136 (GRCm39)	S142P	possibly damaging	Het
Hspg2	A	T	4: 137,286,678 (GRCm39)	T3666S	possibly damaging	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Il2rg	A	G	X: 100,311,416 (GRCm39)	L57P	possibly damaging	Het
Iqgap1	G	A	7: 80,373,727 (GRCm39)	Q1421*	probably null	Het
Itga3	T	A	11: 94,944,902 (GRCm39)	Q802L	possibly damaging	Het
Lonp2	A	G	8: 87,392,403 (GRCm39)	T490A	probably damaging	Het
Lztr1	T	C	16: 17,327,534 (GRCm39)	V79A	probably damaging	Het
Mast4	C	T	13: 102,895,601 (GRCm39)	E736K	probably benign	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Myof	A	G	19: 37,904,194 (GRCm39)	V2A	possibly damaging	Het
Naf1	A	G	8: 67,340,432 (GRCm39)	D414G	probably damaging	Het
Nav3	G	A	10: 109,555,882 (GRCm39)	T1683M	probably damaging	Het
Nbea	A	G	3: 55,993,578 (GRCm39)		probably benign	Het
Nebl	A	T	2: 17,401,932 (GRCm39)	M427K	probably benign	Het
Ngdn	T	C	14: 55,259,564 (GRCm39)	V205A	possibly damaging	Het
Nup133	C	A	8: 124,641,314 (GRCm39)	D869Y	probably damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or10j3b	T	C	1: 173,043,277 (GRCm39)	F20L	probably benign	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or2w3	G	T	11: 58,556,808 (GRCm39)	C141F	probably damaging	Het
Or5m9	A	G	2: 85,877,299 (GRCm39)	T158A	probably damaging	Het
Or6c205	T	A	10: 129,087,001 (GRCm39)	Y199*	probably null	Het
Park7	T	C	4: 150,989,732 (GRCm39)	N76S	probably benign	Het
Pcdh8	A	T	14: 80,005,651 (GRCm39)	S912R	probably damaging	Het
Pkhd1	A	G	1: 20,271,559 (GRCm39)	I2998T	probably damaging	Het
Plxnb3	T	A	X: 72,815,357 (GRCm39)	Y1845*	probably null	Het
Ppard	A	G	17: 28,518,663 (GRCm39)	H388R	probably damaging	Het
Psma1	A	G	7: 113,869,001 (GRCm39)	S142P	possibly damaging	Het
Pth2r	T	C	1: 65,382,721 (GRCm39)	I158T	probably damaging	Het
Rexo2	A	T	9: 48,385,813 (GRCm39)	S104T	possibly damaging	Het
Sema5a	T	C	15: 32,609,363 (GRCm39)		probably benign	Het
Spmip10	C	T	18: 56,721,535 (GRCm39)	Q25*	probably null	Het
Sun2	A	G	15: 79,622,852 (GRCm39)	L109P	probably damaging	Het
Tdg	A	G	10: 82,477,368 (GRCm39)	T116A	probably benign	Het
Terb1	A	T	8: 105,195,380 (GRCm39)	M587K	possibly damaging	Het
Tmcc1	C	T	6: 116,020,019 (GRCm39)	V118M	probably benign	Het
Tnfsf11	T	A	14: 78,516,362 (GRCm39)	N202I	probably damaging	Het
Togaram2	T	C	17: 72,023,360 (GRCm39)	S759P	probably benign	Het
Ttc7b	G	A	12: 100,291,948 (GRCm39)	A208V	probably damaging	Het
Tti2	T	C	8: 31,644,338 (GRCm39)		probably benign	Het
Wnk1	T	C	6: 119,905,118 (GRCm39)		probably null	Het
Zfyve26	T	C	12: 79,330,806 (GRCm39)		probably null	Het
Zfyve28	T	C	5: 34,391,681 (GRCm39)	M157V	probably null	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	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
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

Predicted Primers

PCR Primer
(F):5'- AGGGATTGCGTTCTCTGACAC -3'
(R):5'- CTAAGGAGCTAGTCTTCCGC -3'

Sequencing Primer
(F):5'- GACACTTGTCAGAAAGTCACCTAAG -3'
(R):5'- CCGGATACTGCTGCTGGTTAG -3'

Posted On

2014-09-17