Mutagenetix > Incidental Mutation

Incidental Mutation 'R1893:Trp53bp2'

211669

Institutional Source

Beutler Lab

Gene Symbol

Trp53bp2

Ensembl Gene

ENSMUSG00000026510

Gene Name

transformation related protein 53 binding protein 2

Synonyms

53BP2, ASPP2

MMRRC Submission

039913-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

182236737-182289997 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 182259193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 82 (V82A)

Ref Sequence

ENSEMBL: ENSMUSP00000112508 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000117245
AA Change: V82A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112508
Gene: ENSMUSG00000026510
AA Change: V82A

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

Meta Mutation Damage Score

0.0603

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

99% (99/100)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,415,928 (GRCm39)	Y674H	possibly damaging	Het
Aars2	G	A	17: 45,825,725 (GRCm39)	R347Q	probably benign	Het
Abca15	A	T	7: 119,939,776 (GRCm39)	M293L	possibly damaging	Het
Abcb7	A	T	X: 103,386,142 (GRCm39)	H97Q	probably damaging	Het
Aldh1l2	G	T	10: 83,328,400 (GRCm39)	N772K	probably damaging	Het
Ascc2	T	A	11: 4,622,305 (GRCm39)	L457Q	probably benign	Het
Aspm	T	A	1: 139,407,605 (GRCm39)	I2164N	probably damaging	Het
Cabs1	A	G	5: 88,127,894 (GRCm39)	T182A	probably benign	Het
Carmil1	T	C	13: 24,208,446 (GRCm39)	E833G	possibly damaging	Het
Ccdc102a	G	A	8: 95,640,171 (GRCm39)	T41M	probably damaging	Het
Cimap1c	A	G	9: 56,756,498 (GRCm39)	Y173H	probably benign	Het
Clec2h	T	C	6: 128,647,795 (GRCm39)	V48A	probably benign	Het
Cpb2	G	A	14: 75,493,403 (GRCm39)	V27I	probably benign	Het
Cr2	T	C	1: 194,837,495 (GRCm39)	H1201R	probably benign	Het
Cyp2d9	T	C	15: 82,336,807 (GRCm39)	V52A	probably damaging	Het
Cyp4a12a	C	A	4: 115,183,864 (GRCm39)	N223K	probably benign	Het
Cyp7b1	G	A	3: 18,150,731 (GRCm39)	S336L	possibly damaging	Het
Dnah10	T	C	5: 124,831,381 (GRCm39)	V803A	probably benign	Het
Dnah17	T	A	11: 117,957,794 (GRCm39)	T2745S	probably benign	Het
Ep300	T	A	15: 81,515,847 (GRCm39)		probably benign	Het
Epha3	A	G	16: 63,388,762 (GRCm39)	S829P	probably damaging	Het
Fads3	C	A	19: 10,033,868 (GRCm39)	H418N	probably benign	Het
Fat1	T	C	8: 45,476,893 (GRCm39)	S1980P	probably damaging	Het
Fgf20	T	C	8: 40,732,844 (GRCm39)	E198G	possibly damaging	Het
Fgl2	G	A	5: 21,580,669 (GRCm39)	R337H	probably benign	Het
Gbp2	G	T	3: 142,335,933 (GRCm39)		probably benign	Het
Gja10	G	A	4: 32,601,541 (GRCm39)	S281L	probably benign	Het
Gm5422	G	A	10: 31,125,609 (GRCm39)		noncoding transcript	Het
Gmpr	T	A	13: 45,674,423 (GRCm39)	D129E	possibly damaging	Het
Gtf3c4	C	T	2: 28,724,374 (GRCm39)	V453I	possibly damaging	Het
Heatr6	T	C	11: 83,648,140 (GRCm39)	V111A	probably benign	Het
Hipk3	G	A	2: 104,263,601 (GRCm39)	R905W	probably damaging	Het
Hpn	T	A	7: 30,798,773 (GRCm39)	D103V	probably damaging	Het
Ipcef1	G	A	10: 6,850,680 (GRCm39)	R304W	probably damaging	Het
Iqcb1	A	G	16: 36,652,245 (GRCm39)	D52G	probably damaging	Het
Klhdc7b	C	T	15: 89,271,898 (GRCm39)		probably null	Het
Klhl1	A	T	14: 96,477,642 (GRCm39)		probably null	Het
Lrrn1	A	T	6: 107,545,083 (GRCm39)	I294F	possibly damaging	Het
Map3k1	A	T	13: 111,904,567 (GRCm39)	F406I	possibly damaging	Het
Map4k4	T	A	1: 40,040,717 (GRCm39)	V579E	probably benign	Het
Mapre2	A	G	18: 23,986,774 (GRCm39)	K62R	probably damaging	Het
Mdga1	A	T	17: 30,068,200 (GRCm39)	Y305N	probably damaging	Het
Mgl2	T	A	11: 70,024,993 (GRCm39)		probably null	Het
Mnx1	C	T	5: 29,682,828 (GRCm39)	G149D	unknown	Het
Mtbp	T	A	15: 55,421,064 (GRCm39)	S17T	probably benign	Het
Neu3	T	C	7: 99,472,627 (GRCm39)	T37A	possibly damaging	Het
Nr1i3	T	C	1: 171,044,792 (GRCm39)		probably null	Het
Or10al2	A	T	17: 37,983,747 (GRCm39)	K278*	probably null	Het
Or10g6	A	T	9: 39,934,270 (GRCm39)	I194F	possibly damaging	Het
Or6ae1	T	C	7: 139,742,734 (GRCm39)	N43S	probably damaging	Het
Or9s18	T	A	13: 65,300,806 (GRCm39)	M256K	possibly damaging	Het
Osr2	A	G	15: 35,300,608 (GRCm39)	T55A	possibly damaging	Het
Palld	A	G	8: 61,969,655 (GRCm39)	V981A	probably damaging	Het
Pbx1	A	T	1: 168,030,979 (GRCm39)	M213K	possibly damaging	Het
Pcdhb12	C	A	18: 37,570,136 (GRCm39)	H427Q	probably benign	Het
Perm1	C	T	4: 156,302,340 (GRCm39)	R295C	probably benign	Het
Phaf1	G	T	8: 105,973,133 (GRCm39)	V248F	probably damaging	Het
Polm	T	C	11: 5,785,574 (GRCm39)	T162A	possibly damaging	Het
Prox1	A	G	1: 189,892,715 (GRCm39)		probably benign	Het
Ptpn7	A	T	1: 135,062,641 (GRCm39)	T127S	probably benign	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Rab21	T	C	10: 115,126,805 (GRCm39)	T181A	probably benign	Het
Rab38	A	T	7: 88,139,924 (GRCm39)	T198S	probably benign	Het
Rnase4	C	G	14: 51,342,395 (GRCm39)	Q40E	possibly damaging	Het
Rnf213	T	A	11: 119,307,274 (GRCm39)	W645R	probably damaging	Het
Rnf8	A	G	17: 29,840,524 (GRCm39)	I51M	probably damaging	Het
Sbpl	T	A	17: 24,172,241 (GRCm39)	D226V	unknown	Het
Sdf4	T	G	4: 156,085,205 (GRCm39)	I180S	probably benign	Het
Simc1	A	G	13: 54,687,528 (GRCm39)	K99R	probably damaging	Het
Slc2a4	T	C	11: 69,837,398 (GRCm39)	Q49R	probably damaging	Het
Slco1a4	T	C	6: 141,780,342 (GRCm39)		probably null	Het
Slco5a1	C	A	1: 12,964,696 (GRCm39)	C527F	probably damaging	Het
Sox6	T	A	7: 115,143,803 (GRCm39)	N405I	probably benign	Het
Sphkap	G	A	1: 83,256,687 (GRCm39)	P354L	probably benign	Het
Spi1	A	G	2: 90,944,702 (GRCm39)	D149G	probably benign	Het
Sptan1	T	A	2: 29,910,472 (GRCm39)	D1812E	probably damaging	Het
Sub1	A	T	15: 11,991,130 (GRCm39)	V37E	possibly damaging	Het
Sult2a6	T	C	7: 13,959,814 (GRCm39)	T240A	probably benign	Het
Tacc2	A	G	7: 130,227,055 (GRCm39)	S1247G	probably benign	Het
Taf4	T	C	2: 179,574,823 (GRCm39)	D594G	probably damaging	Het
Tap1	T	G	17: 34,413,915 (GRCm39)	D643E	probably damaging	Het
Ticam1	T	C	17: 56,578,894 (GRCm39)	N67S	probably benign	Het
Tlr6	A	G	5: 65,110,556 (GRCm39)	F784L	probably damaging	Het
Tmprss15	A	G	16: 78,868,306 (GRCm39)	V202A	probably benign	Het
Ube2o	C	T	11: 116,439,661 (GRCm39)	V170I	possibly damaging	Het
Ube2q2l	A	G	6: 136,378,825 (GRCm39)	S2P	possibly damaging	Het
Vmn1r177	G	A	7: 23,565,573 (GRCm39)	T101I	probably benign	Het
Vmn2r68	A	T	7: 84,883,867 (GRCm39)	Y79*	probably null	Het
Wdr35	A	C	12: 9,035,994 (GRCm39)	Y255S	probably benign	Het
Zfp507	A	T	7: 35,502,052 (GRCm39)		probably benign	Het
Zfp688	G	A	7: 127,018,409 (GRCm39)	R239C	probably damaging	Het
Zfp74	T	A	7: 29,635,470 (GRCm39)		probably null	Het
Zfp932	A	G	5: 110,157,069 (GRCm39)	N223D	possibly 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
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
R7452:Trp53bp2	UTSW	1	182,274,133 (GRCm39)	nonsense	probably null
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'- CTGCTTTATACTGACTTGACACTG -3'
(R):5'- GCTGTTGCTCTAATGTCCTAGC -3'

Sequencing Primer
(F):5'- GTCAATATTTTGAGTTCTGTTGATGG -3'
(R):5'- GTTGCTCTAATGTCCTAGCTTCCC -3'

Posted On

2014-06-30