Mutagenetix > Incidental Mutation

Incidental Mutation 'R7816:Trp53bp2'

601506

Institutional Source

Beutler Lab

Gene Symbol

Trp53bp2

Ensembl Gene

ENSMUSG00000026510

Gene Name

transformation related protein 53 binding protein 2

Synonyms

53BP2, ASPP2

MMRRC Submission

045870-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7816 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

182236737-182289997 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 182276260 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 747 (E747G)

Ref Sequence

ENSEMBL: ENSMUSP00000112508 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000117245
AA Change: E747G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112508
Gene: ENSMUSG00000026510
AA Change: E747G

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 benign
Transcript: ENSMUST00000191626

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,331,588 (GRCm39)	S1321P	probably benign	Het
Abcb1a	T	C	5: 8,736,132 (GRCm39)	V175A	possibly damaging	Het
Adamts20	T	A	15: 94,220,725 (GRCm39)	M1403L	probably benign	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Amotl2	T	A	9: 102,608,853 (GRCm39)	I789K	probably benign	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcar3	C	T	3: 122,220,343 (GRCm39)	T80I	probably benign	Het
Bcas1	G	T	2: 170,248,347 (GRCm39)	F181L	probably benign	Het
Cacnb1	T	C	11: 97,896,115 (GRCm39)	E389G	probably damaging	Het
Cd52	A	T	4: 133,821,199 (GRCm39)		probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Coro2a	T	C	4: 46,546,809 (GRCm39)	D182G	probably benign	Het
Crp	T	C	1: 172,526,277 (GRCm39)	S121P	possibly damaging	Het
Csnka2ip	T	C	16: 64,299,852 (GRCm39)		probably benign	Het
Cttnbp2	T	C	6: 18,448,413 (GRCm39)	D82G	probably damaging	Het
Cyp2b9	A	G	7: 25,900,517 (GRCm39)	N385S	probably benign	Het
Dppa1	A	G	11: 46,507,003 (GRCm39)	S26P	possibly damaging	Het
Eif4e3	T	C	6: 99,617,599 (GRCm39)	R91G	probably damaging	Het
F13a1	A	T	13: 37,209,745 (GRCm39)	N73K	probably benign	Het
Fbxl13	T	C	5: 21,748,785 (GRCm39)	Y378C	probably benign	Het
Glis2	G	A	16: 4,431,328 (GRCm39)	R285H	probably damaging	Het
Gm17174	T	A	14: 51,829,569 (GRCm39)		probably benign	Het
Golga1	G	A	2: 38,942,110 (GRCm39)	S102F	probably damaging	Het
Hdac1	A	T	4: 129,411,888 (GRCm39)	Y336N	probably damaging	Het
Hfe	G	T	13: 23,888,382 (GRCm39)	T168K	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv1-56	T	C	12: 115,206,846 (GRCm39)	S4G	probably benign	Het
Ino80d	A	G	1: 63,125,556 (GRCm39)	Y74H	probably damaging	Het
Ints1	A	T	5: 139,757,134 (GRCm39)	H427Q	possibly damaging	Het
Itpkb	T	A	1: 180,241,454 (GRCm39)	V708E	probably damaging	Het
Jmjd4	G	T	11: 59,341,162 (GRCm39)	G31V	probably benign	Het
Kcnh5	C	T	12: 75,023,457 (GRCm39)	C537Y	probably damaging	Het
Kcnj11	A	T	7: 45,749,281 (GRCm39)	L14Q	probably damaging	Het
Lipo4	A	T	19: 33,491,642 (GRCm39)	W114R	probably damaging	Het
Lrrc9	T	A	12: 72,542,466 (GRCm39)	I1096N	probably damaging	Het
Lyzl6	C	T	11: 103,527,680 (GRCm39)	V15I	probably benign	Het
Map4k4	A	G	1: 40,053,368 (GRCm39)	T856A	possibly damaging	Het
Mks1	T	A	11: 87,751,542 (GRCm39)	W346R	probably damaging	Het
Mtmr14	T	C	6: 113,243,263 (GRCm39)	Y32H	probably damaging	Het
Muc13	A	G	16: 33,619,386 (GRCm39)	S45G	unknown	Het
Mx2	G	A	16: 97,346,812 (GRCm39)	G93D	probably damaging	Het
Noc4l	A	T	5: 110,797,539 (GRCm39)	V365E	probably benign	Het
Odf2l	T	C	3: 144,856,776 (GRCm39)	I577T	probably damaging	Het
Or4l1	T	C	14: 50,166,622 (GRCm39)	I126M	probably damaging	Het
Peg10	C	CTCT	6: 4,756,453 (GRCm39)		probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pnoc	A	T	14: 65,639,307 (GRCm39)	I186N	possibly damaging	Het
Pou4f3	A	G	18: 42,528,251 (GRCm39)	I65V	probably benign	Het
Pramel23	G	T	4: 143,424,764 (GRCm39)	N226K	probably benign	Het
Prss1l	T	C	6: 41,371,707 (GRCm39)	L51P	probably damaging	Het
Ptpn21	G	A	12: 98,648,791 (GRCm39)	A955V	probably damaging	Het
Rabgap1	G	T	2: 37,453,476 (GRCm39)	R968L	probably benign	Het
Rarres1	T	C	3: 67,386,677 (GRCm39)	N282S	probably damaging	Het
Rgs17	T	C	10: 5,791,501 (GRCm39)	N72S	probably benign	Het
Rp1	T	A	1: 4,417,926 (GRCm39)	N1062I	probably damaging	Het
Rpn1	T	A	6: 88,080,378 (GRCm39)	V559D	possibly damaging	Het
Rrbp1	A	T	2: 143,830,855 (GRCm39)	N437K	probably damaging	Het
Rtn4r	C	A	16: 17,969,399 (GRCm39)	Q276K	probably benign	Het
Rwdd4a	T	C	8: 47,990,335 (GRCm39)	S16P	probably damaging	Het
S1pr1	A	G	3: 115,505,947 (GRCm39)	S216P	possibly damaging	Het
Scn8a	C	A	15: 100,908,917 (GRCm39)	T795K	possibly damaging	Het
Spryd3	A	C	15: 102,026,141 (GRCm39)	F401C	probably damaging	Het
Stk36	G	T	1: 74,650,328 (GRCm39)	E287*	probably null	Het
Tbc1d1	G	T	5: 64,507,095 (GRCm39)	S1104I	probably damaging	Het
Tex15	A	G	8: 34,071,683 (GRCm39)	D2410G	probably benign	Het
Tmem92	T	A	11: 94,669,784 (GRCm39)	I116F	possibly damaging	Het
Trp63	A	T	16: 25,707,990 (GRCm39)	D562V	probably damaging	Het
Ttc21b	A	G	2: 66,077,705 (GRCm39)	Y167H	possibly damaging	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Uggt1	G	A	1: 36,202,396 (GRCm39)	S1067F	possibly damaging	Het
Vmn2r103	T	A	17: 20,014,476 (GRCm39)	Y423N	probably benign	Het
Vmn2r111	A	G	17: 22,792,083 (GRCm39)	Y58H	probably damaging	Het
Ypel3	T	A	7: 126,377,013 (GRCm39)	V2E	probably damaging	Het
Ythdf3	T	C	3: 16,243,681 (GRCm39)	V34A	probably damaging	Het
Zfp180	A	T	7: 23,804,570 (GRCm39)	S330C	probably damaging	Het
Zfp292	G	A	4: 34,809,865 (GRCm39)	P1060S	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp981	C	T	4: 146,622,100 (GRCm39)	R342C	probably benign	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
R7452:Trp53bp2	UTSW	1	182,274,133 (GRCm39)	nonsense	probably null
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'- CCGTTTCTTCAGTTCATGAGAGC -3'
(R):5'- ACTGTTCTCCGTACTGGCAC -3'

Sequencing Primer
(F):5'- GCCATGAAAACGAAAGGATTCCTCG -3'
(R):5'- GTTCAGGGACTAAAGAGCCCAC -3'

Posted On

2019-12-03