Mutagenetix > Incidental Mutation

Incidental Mutation 'R7452:Trp53bp2'

577773

Institutional Source

Beutler Lab

Gene Symbol

Trp53bp2

Ensembl Gene

ENSMUSG00000026510

Gene Name

transformation related protein 53 binding protein 2

Synonyms

53BP2, ASPP2

MMRRC Submission

045526-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

182236737-182289997 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 182274133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 95 (Q95*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117245]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000117245
AA Change: Q593*

SMART Domains

Protein: ENSMUSP00000112508
Gene: ENSMUSG00000026510
AA Change: Q593*

Domain	Start	End	E-Value	Type
PDB:2UWQ\|A	4	89	1e-53	PDB
Blast:RA	10	91	7e-50	BLAST
coiled coil region	129	306	N/A	INTRINSIC
low complexity region	401	412	N/A	INTRINSIC
low complexity region	495	512	N/A	INTRINSIC
PDB:4IRV\|H	728	788	5e-25	PDB
low complexity region	865	890	N/A	INTRINSIC
ANK	964	993	2.52e-6	SMART
ANK	997	1026	7.13e-6	SMART
SH3	1066	1124	6.2e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000191626
AA Change: Q95*

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation is lethal by 30 days of age, although majority die embryonically. Heterozygotes show increased susceptibility to spontaneous and induced tumors of the lymphoma and sarcoma types [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,618,291 (GRCm39)	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,190,897 (GRCm39)	G249R	probably damaging	Het
Actn1	T	C	12: 80,230,376 (GRCm39)	T293A	probably benign	Het
Adamts5	T	A	16: 85,674,869 (GRCm39)	T432S	probably benign	Het
Adh5	A	G	3: 138,160,506 (GRCm39)	T347A	probably benign	Het
Agbl5	A	G	5: 31,050,735 (GRCm39)	D432G	probably damaging	Het
Ank3	A	G	10: 69,734,881 (GRCm39)	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,885,724 (GRCm39)	V743G	probably benign	Het
Arap2	A	T	5: 62,833,892 (GRCm39)	S858R	probably benign	Het
Arid1a	A	C	4: 133,480,438 (GRCm39)	V162G	possibly damaging	Het
Armc9	A	G	1: 86,140,814 (GRCm39)	D588G	possibly damaging	Het
Art3	A	G	5: 92,540,539 (GRCm39)	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,946,527 (GRCm39)	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,075 (GRCm39)	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,717,596 (GRCm39)	L469P	probably damaging	Het
Celsr2	T	A	3: 108,320,406 (GRCm39)	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,452,981 (GRCm39)	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731 (GRCm39)	D2024A	probably benign	Het
Corin	T	A	5: 72,592,590 (GRCm39)	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,184,795 (GRCm39)	I359F	probably damaging	Het
Defb6	T	C	8: 19,275,540 (GRCm39)	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,686,196 (GRCm39)	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,866,664 (GRCm39)	F682S	probably damaging	Het
Enpep	T	A	3: 129,065,052 (GRCm39)	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,730,132 (GRCm39)	N462S	probably damaging	Het
Ephb3	T	C	16: 21,036,107 (GRCm39)		probably null	Het
F7	C	T	8: 13,085,215 (GRCm39)	H414Y	probably benign	Het
Fbn1	T	C	2: 125,347,375 (GRCm39)	H50R	possibly damaging	Het
Fig4	T	C	10: 41,116,633 (GRCm39)	D586G	possibly damaging	Het
Fryl	A	G	5: 73,181,331 (GRCm39)	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,800,240 (GRCm39)	H30Q	possibly damaging	Het
Garre1	A	G	7: 33,945,096 (GRCm39)	S595P	probably benign	Het
Gm12886	G	A	4: 121,274,671 (GRCm39)	Q70*	probably null	Het
Gm8104	A	C	14: 42,967,501 (GRCm39)	T190P	probably benign	Het
Hps3	A	T	3: 20,065,592 (GRCm39)	N749K	probably damaging	Het
Hr	A	G	14: 70,808,926 (GRCm39)	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,423,074 (GRCm39)	S210T	probably benign	Het
Ift80	T	C	3: 68,901,615 (GRCm39)		probably null	Het
Iqgap1	A	G	7: 80,410,577 (GRCm39)	V212A	possibly damaging	Het
Itih5	A	G	2: 10,243,607 (GRCm39)	E448G	probably damaging	Het
Kdm5b	T	C	1: 134,552,686 (GRCm39)	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,262,692 (GRCm39)	Y52C	probably benign	Het
Map1b	C	T	13: 99,644,648 (GRCm39)	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030 (GRCm39)	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705 (GRCm39)	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,384,733 (GRCm39)		probably null	Het
Neto1	A	T	18: 86,517,056 (GRCm39)	I458L	probably benign	Het
Nfam1	T	A	15: 82,899,163 (GRCm39)	M128L	probably benign	Het
Or2y13	C	A	11: 49,415,208 (GRCm39)	H219Q	probably benign	Het
Or4g16	A	G	2: 111,137,266 (GRCm39)	T239A	probably damaging	Het
Or5p75-ps1	C	T	7: 108,107,800 (GRCm39)	T179I	unknown	Het
Or8b50	A	T	9: 38,518,384 (GRCm39)	I208F	probably benign	Het
P2ry14	C	T	3: 59,023,466 (GRCm39)	G7D	probably benign	Het
Pde11a	A	G	2: 75,966,758 (GRCm39)	Y564H	probably damaging	Het
Pex5l	C	T	3: 33,058,467 (GRCm39)	V262I	probably benign	Het
Poli	A	G	18: 70,642,049 (GRCm39)	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,195,783 (GRCm39)	W93R	probably damaging	Het
Rbm46	T	C	3: 82,771,428 (GRCm39)	M396V	probably benign	Het
Rcor2	T	C	19: 7,248,587 (GRCm39)	V212A	probably benign	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Skp2	T	A	15: 9,113,920 (GRCm39)	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,269,034 (GRCm39)	S312T	probably benign	Het
Sstr1	T	C	12: 58,260,142 (GRCm39)	L255P	probably damaging	Het
Steap3	T	C	1: 120,155,585 (GRCm39)	E458G	possibly damaging	Het
Sv2b	T	A	7: 74,797,461 (GRCm39)	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,715,332 (GRCm39)	D347G	probably benign	Het
Tmem161a	A	G	8: 70,630,138 (GRCm39)	D108G	probably damaging	Het
Traf5	T	A	1: 191,731,792 (GRCm39)	I47F		Het
Ttn	G	T	2: 76,707,487 (GRCm39)		probably null	Het
Usf3	T	C	16: 44,040,397 (GRCm39)	S1626P	probably benign	Het
Usp3	T	C	9: 66,474,180 (GRCm39)	R33G	probably benign	Het
Zbtb20	G	T	16: 43,431,039 (GRCm39)	A517S	probably damaging	Het

Other mutations in Trp53bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00672:Trp53bp2	APN	1	182,268,541 (GRCm39)	missense	probably benign	0.17
IGL00920:Trp53bp2	APN	1	182,272,219 (GRCm39)	unclassified	probably benign
IGL01336:Trp53bp2	APN	1	182,259,148 (GRCm39)	missense	probably damaging	1.00
IGL01760:Trp53bp2	APN	1	182,275,993 (GRCm39)	missense	possibly damaging	0.68
IGL02539:Trp53bp2	APN	1	182,276,256 (GRCm39)	missense	probably damaging	0.99
IGL02609:Trp53bp2	APN	1	182,281,289 (GRCm39)	missense	probably benign	0.21
IGL02720:Trp53bp2	APN	1	182,281,289 (GRCm39)	missense	probably benign	0.21
IGL02962:Trp53bp2	APN	1	182,259,160 (GRCm39)	missense	probably benign	0.00
IGL03348:Trp53bp2	APN	1	182,281,313 (GRCm39)	missense	probably damaging	1.00
ganglion	UTSW	1	182,256,475 (GRCm39)	missense	probably damaging	1.00
Nosa	UTSW	1	182,283,305 (GRCm39)	missense	probably damaging	1.00
R0012:Trp53bp2	UTSW	1	182,272,283 (GRCm39)	missense	probably damaging	0.99
R0012:Trp53bp2	UTSW	1	182,272,283 (GRCm39)	missense	probably damaging	0.99
R0347:Trp53bp2	UTSW	1	182,269,213 (GRCm39)	missense	probably benign	0.08
R1422:Trp53bp2	UTSW	1	182,274,029 (GRCm39)	missense	probably benign
R1833:Trp53bp2	UTSW	1	182,256,581 (GRCm39)	missense	probably damaging	0.98
R1845:Trp53bp2	UTSW	1	182,286,468 (GRCm39)	missense	probably damaging	1.00
R1893:Trp53bp2	UTSW	1	182,259,193 (GRCm39)	missense	probably benign	0.01
R1927:Trp53bp2	UTSW	1	182,280,229 (GRCm39)	missense	probably damaging	0.98
R2017:Trp53bp2	UTSW	1	182,276,580 (GRCm39)	missense	probably benign
R2020:Trp53bp2	UTSW	1	182,270,384 (GRCm39)	missense	probably damaging	1.00
R2072:Trp53bp2	UTSW	1	182,286,432 (GRCm39)	missense	probably benign	0.00
R2120:Trp53bp2	UTSW	1	182,269,204 (GRCm39)	missense	probably benign	0.06
R2504:Trp53bp2	UTSW	1	182,269,204 (GRCm39)	missense	probably benign	0.26
R2970:Trp53bp2	UTSW	1	182,259,163 (GRCm39)	missense	probably damaging	1.00
R3051:Trp53bp2	UTSW	1	182,281,347 (GRCm39)	missense	probably damaging	0.96
R3052:Trp53bp2	UTSW	1	182,281,347 (GRCm39)	missense	probably damaging	0.96
R3053:Trp53bp2	UTSW	1	182,281,347 (GRCm39)	missense	probably damaging	0.96
R3151:Trp53bp2	UTSW	1	182,256,525 (GRCm39)	missense	probably damaging	1.00
R4043:Trp53bp2	UTSW	1	182,276,626 (GRCm39)	missense	possibly damaging	0.93
R4757:Trp53bp2	UTSW	1	182,286,339 (GRCm39)	missense	probably benign	0.04
R4785:Trp53bp2	UTSW	1	182,276,562 (GRCm39)	missense	probably benign
R4817:Trp53bp2	UTSW	1	182,269,370 (GRCm39)	critical splice donor site	probably null
R4836:Trp53bp2	UTSW	1	182,259,147 (GRCm39)	missense	probably damaging	1.00
R5040:Trp53bp2	UTSW	1	182,272,271 (GRCm39)	missense	probably damaging	1.00
R5882:Trp53bp2	UTSW	1	182,269,777 (GRCm39)	missense	possibly damaging	0.87
R6007:Trp53bp2	UTSW	1	182,283,305 (GRCm39)	missense	probably damaging	1.00
R6356:Trp53bp2	UTSW	1	182,276,562 (GRCm39)	missense	probably benign
R6886:Trp53bp2	UTSW	1	182,256,608 (GRCm39)	critical splice donor site	probably null
R6987:Trp53bp2	UTSW	1	182,274,200 (GRCm39)	missense	probably damaging	0.99
R7026:Trp53bp2	UTSW	1	182,270,300 (GRCm39)	missense	probably benign
R7141:Trp53bp2	UTSW	1	182,276,073 (GRCm39)	missense
R7363:Trp53bp2	UTSW	1	182,272,231 (GRCm39)	missense	probably damaging	0.99
R7816:Trp53bp2	UTSW	1	182,276,260 (GRCm39)	missense	probably damaging	0.99
R7838:Trp53bp2	UTSW	1	182,283,384 (GRCm39)	missense	probably damaging	1.00
R8729:Trp53bp2	UTSW	1	182,276,587 (GRCm39)	missense	probably benign
R8850:Trp53bp2	UTSW	1	182,256,475 (GRCm39)	missense	probably damaging	1.00
R8921:Trp53bp2	UTSW	1	182,273,971 (GRCm39)	missense
R8982:Trp53bp2	UTSW	1	182,263,001 (GRCm39)	critical splice donor site	probably null
R8988:Trp53bp2	UTSW	1	182,268,433 (GRCm39)	missense	possibly damaging	0.94
R9135:Trp53bp2	UTSW	1	182,286,328 (GRCm39)	missense	probably damaging	0.99
R9424:Trp53bp2	UTSW	1	182,273,864 (GRCm39)	missense	possibly damaging	0.63
R9563:Trp53bp2	UTSW	1	182,276,378 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGGACAAACGGCTCAGTC -3'
(R):5'- CAATGGAACCTTACCACTTGAAAAG -3'

Sequencing Primer
(F):5'- AGTCGCCTTCTGACATGAAG -3'
(R):5'- CTTGAAAAGTGGGGGCCTC -3'

Posted On

2019-10-07