Mutagenetix > Incidental Mutation

Incidental Mutation 'R4757:Trp53bp2'

358203

Institutional Source

Beutler Lab

Gene Symbol

Trp53bp2

Ensembl Gene

ENSMUSG00000026510

Gene Name

transformation related protein 53 binding protein 2

Synonyms

53BP2, ASPP2

MMRRC Submission

041973-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4757 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

182236737-182289997 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 182286339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1060 (M1060L)

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: M1060L

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112508
Gene: ENSMUSG00000026510
AA Change: M1060L

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

noncoding transcript
Transcript: ENSMUST00000191804

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	T	9: 53,336,830 (GRCm39)	M45L	probably benign	Het
Abcb1a	T	A	5: 8,787,632 (GRCm39)	V978D	probably damaging	Het
Acsm4	T	C	7: 119,297,900 (GRCm39)	V179A	probably benign	Het
Agtr1a	C	A	13: 30,565,842 (GRCm39)	Y302*	probably null	Het
Akap9	T	C	5: 4,058,382 (GRCm39)	I1677T	probably damaging	Het
Ankk1	T	A	9: 49,327,230 (GRCm39)	M650L	probably benign	Het
Apod	T	A	16: 31,122,280 (GRCm39)	N65Y	probably damaging	Het
Bcl2l1	T	A	2: 152,624,178 (GRCm39)	N197Y	possibly damaging	Het
Brpf1	A	T	6: 113,292,072 (GRCm39)	I373F	probably damaging	Het
Car13	T	C	3: 14,726,615 (GRCm39)	V257A	probably damaging	Het
Ccdc150	A	T	1: 54,317,874 (GRCm39)	H271L	possibly damaging	Het
Cit	T	A	5: 116,135,608 (GRCm39)	I1836N	probably damaging	Het
Clec12b	A	G	6: 129,357,655 (GRCm39)	S68P	probably damaging	Het
Col4a4	A	G	1: 82,506,187 (GRCm39)	F298L	unknown	Het
Crct1	G	A	3: 92,922,093 (GRCm39)	Q15*	probably null	Het
Creld1	A	G	6: 113,469,208 (GRCm39)	E346G	probably benign	Het
Ctnnal1	T	A	4: 56,847,980 (GRCm39)	H53L	probably damaging	Het
Cyb5d1	T	C	11: 69,285,814 (GRCm39)	D74G	probably damaging	Het
Deptor	A	T	15: 55,075,674 (GRCm39)	S293C	probably damaging	Het
Dnajb12	A	G	10: 59,728,592 (GRCm39)	S187G	probably benign	Het
Duoxa2	G	T	2: 122,131,072 (GRCm39)	V78L	possibly damaging	Het
Fem1al	A	T	11: 29,775,454 (GRCm39)	M1K	probably null	Het
Fhod1	C	A	8: 106,074,443 (GRCm39)		probably benign	Het
Foxf2	C	T	13: 31,810,172 (GRCm39)	P37L	unknown	Het
Gabbr2	T	C	4: 46,875,675 (GRCm39)	N149S	probably damaging	Het
Gckr	G	T	5: 31,464,728 (GRCm39)	M344I	possibly damaging	Het
Herc6	G	A	6: 57,577,045 (GRCm39)		probably null	Het
Igf1	A	T	10: 87,751,287 (GRCm39)	E161V	probably benign	Het
Ighv8-13	T	A	12: 115,729,268 (GRCm39)		probably benign	Het
Igkv6-14	A	T	6: 70,412,426 (GRCm39)	L12*	probably null	Het
Kpnb1	C	T	11: 97,068,160 (GRCm39)	S270N	possibly damaging	Het
Lingo1	A	G	9: 56,527,209 (GRCm39)	V460A	probably benign	Het
Lsm6	T	C	8: 79,539,711 (GRCm39)		probably null	Het
Mccc1	C	T	3: 36,050,066 (GRCm39)	G42E	probably benign	Het
Mga	A	G	2: 119,734,120 (GRCm39)	K323E	possibly damaging	Het
Mks1	A	G	11: 87,753,850 (GRCm39)	*562W	probably null	Het
Mrgpra4	T	A	7: 47,630,686 (GRCm39)	E305V	probably damaging	Het
Msh4	T	A	3: 153,585,024 (GRCm39)	H360L	probably damaging	Het
Mthfsd	C	T	8: 121,825,737 (GRCm39)		probably null	Het
Myl12a	A	T	17: 71,303,798 (GRCm39)	F26L	possibly damaging	Het
Nedd4l	A	G	18: 65,298,676 (GRCm39)	S343G	probably damaging	Het
Nlgn1	T	A	3: 25,490,332 (GRCm39)	D465V	probably damaging	Het
Nlgn1	C	T	3: 25,490,507 (GRCm39)	V407I	possibly damaging	Het
Npsr1	T	C	9: 24,046,064 (GRCm39)	V61A	probably benign	Het
Nrxn2	A	G	19: 6,559,851 (GRCm39)	D160G	probably damaging	Het
Or2p2	T	C	13: 21,256,715 (GRCm39)	Y252C	probably damaging	Het
Or52d3	T	C	7: 104,229,404 (GRCm39)	Y184H	possibly damaging	Het
Or5b107	A	C	19: 13,143,277 (GRCm39)	S300R	probably benign	Het
Or5b113	G	T	19: 13,342,810 (GRCm39)	A273S	probably benign	Het
Or9g4	A	G	2: 85,504,664 (GRCm39)	F277S	probably damaging	Het
Pbx1	C	A	1: 168,023,450 (GRCm39)	R235L	probably damaging	Het
Pcnx4	T	C	12: 72,603,067 (GRCm39)	V443A	probably benign	Het
Pde7b	T	C	10: 20,423,688 (GRCm39)	T63A	probably benign	Het
Phf3	C	T	1: 30,859,908 (GRCm39)	G873D	probably damaging	Het
Phox2b	A	T	5: 67,256,197 (GRCm39)	Y30N	probably damaging	Het
Plch2	T	A	4: 155,080,690 (GRCm39)	I599F	possibly damaging	Het
Plekha8	A	G	6: 54,599,213 (GRCm39)	E249G	probably benign	Het
Pou2af1	T	A	9: 51,144,439 (GRCm39)	Y118N	possibly damaging	Het
Ppp3cc	T	A	14: 70,455,635 (GRCm39)	K489N	possibly damaging	Het
Sema4b	T	C	7: 79,866,577 (GRCm39)	L219P	probably damaging	Het
Slc6a5	T	G	7: 49,609,030 (GRCm39)	V745G	probably benign	Het
Slf2	A	G	19: 44,923,497 (GRCm39)	M104V	probably benign	Het
Slx1b	A	G	7: 126,291,701 (GRCm39)	V121A	probably benign	Het
Speer4e2	T	A	5: 15,026,222 (GRCm39)	H145L	probably benign	Het
Spen	T	A	4: 141,200,390 (GRCm39)	K2746*	probably null	Het
Stxbp5l	T	C	16: 37,008,996 (GRCm39)	Y681C	probably damaging	Het
Sv2b	T	C	7: 74,773,918 (GRCm39)	T518A	probably benign	Het
Tgm7	A	T	2: 120,926,870 (GRCm39)	H426Q	possibly damaging	Het
Tlx2	A	G	6: 83,046,900 (GRCm39)	F54S	probably benign	Het
Trpv5	T	A	6: 41,630,148 (GRCm39)	E647D	probably damaging	Het
Tut1	G	T	19: 8,936,672 (GRCm39)	K165N	possibly damaging	Het
Tyro3	A	G	2: 119,641,419 (GRCm39)	K543E	probably damaging	Het
Vmn2r69	T	A	7: 85,061,575 (GRCm39)	Y133F	probably damaging	Het
Zfhx4	T	A	3: 5,465,122 (GRCm39)	V1785D	possibly damaging	Het
Zfp451	A	G	1: 33,804,939 (GRCm39)	L1037P	probably damaging	Het
Zscan29	A	T	2: 120,991,392 (GRCm39)	F799I	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
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
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'- TATAAACACTGCTGGTCTCCC -3'
(R):5'- CGTCAGCATTGGAGTGACTTAC -3'

Sequencing Primer
(F):5'- CGTTCCCTCCCATGCTGG -3'
(R):5'- AGTGACTTACTCCTAGCAAGTTGCG -3'

Posted On

2015-11-11