Mutagenetix > Incidental Mutation

Incidental Mutation 'R1845:Trp53bp2'

207609

Institutional Source

Beutler Lab

Gene Symbol

Trp53bp2

Ensembl Gene

ENSMUSG00000026510

Gene Name

transformation related protein 53 binding protein 2

Synonyms

53BP2, ASPP2

MMRRC Submission

039870-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1845 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

182236737-182289997 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 182286468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1103 (W1103R)

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: W1103R

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

SMART Domains

Protein: ENSMUSP00000112508
Gene: ENSMUSG00000026510
AA Change: W1103R

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: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.7%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	CGGG	CGGGGGG	15: 76,833,863 (GRCm39)		probably benign	Het
Abca17	A	T	17: 24,486,690 (GRCm39)	C1446S	probably damaging	Het
Asb16	C	A	11: 102,167,582 (GRCm39)	A316E	possibly damaging	Het
Axdnd1	C	T	1: 156,204,114 (GRCm39)	V384I	possibly damaging	Het
BC024139	A	T	15: 76,009,461 (GRCm39)	L207*	probably null	Het
Bcl3	T	G	7: 19,543,552 (GRCm39)	S305R	probably damaging	Het
Cachd1	T	C	4: 100,634,555 (GRCm39)	V77A	probably benign	Het
Cd101	C	T	3: 100,936,764 (GRCm39)		probably null	Het
Cela1	T	C	15: 100,583,048 (GRCm39)	N64S	probably benign	Het
Cep128	T	C	12: 91,256,372 (GRCm39)	D366G	probably benign	Het
Col12a1	A	G	9: 79,604,823 (GRCm39)	V675A	probably benign	Het
Copg1	A	G	6: 87,870,800 (GRCm39)	Y201C	probably damaging	Het
Cyp24a1	T	C	2: 170,329,837 (GRCm39)	R372G	probably benign	Het
Dcaf1	A	C	9: 106,729,161 (GRCm39)	I567L	probably benign	Het
Dcn	A	G	10: 97,342,536 (GRCm39)	D164G	probably benign	Het
Dnase2a	T	A	8: 85,635,951 (GRCm39)	H113Q	probably benign	Het
Espl1	T	C	15: 102,207,448 (GRCm39)	V304A	probably benign	Het
Fam193a	A	G	5: 34,600,716 (GRCm39)	D315G	possibly damaging	Het
Fkbp8	T	A	8: 70,983,685 (GRCm39)		probably null	Het
Foxp4	T	A	17: 48,188,884 (GRCm39)	T321S	probably null	Het
Fut10	A	G	8: 31,726,328 (GRCm39)	N361S	probably damaging	Het
Gyg1	A	T	3: 20,205,286 (GRCm39)	V94D	probably damaging	Het
Has2	T	C	15: 56,531,974 (GRCm39)	K247R	probably damaging	Het
Helz2	G	T	2: 180,873,878 (GRCm39)	D2205E	probably benign	Het
Hps6	T	A	19: 45,993,409 (GRCm39)	S449T	probably benign	Het
Ints10	T	C	8: 69,247,323 (GRCm39)	Y64H	probably damaging	Het
Kalrn	T	C	16: 34,177,331 (GRCm39)	H278R	probably damaging	Het
Klhdc8a	T	C	1: 132,231,548 (GRCm39)	V280A	possibly damaging	Het
Klk1b5	A	G	7: 43,869,549 (GRCm39)	M210V	probably benign	Het
Kmt2c	G	A	5: 25,578,434 (GRCm39)	A614V	probably benign	Het
Lck	T	A	4: 129,451,879 (GRCm39)	I45F	probably benign	Het
Lin7a	A	C	10: 107,247,920 (GRCm39)	E75A	probably damaging	Het
Lrp1	A	T	10: 127,414,542 (GRCm39)	C1070S	probably damaging	Het
Mapk8ip3	G	T	17: 25,133,557 (GRCm39)	N289K	probably benign	Het
Mbtps1	T	C	8: 120,249,232 (GRCm39)	D686G	probably benign	Het
Mknk1	T	A	4: 115,730,428 (GRCm39)	C178*	probably null	Het
Mtmr6	A	G	14: 60,534,184 (GRCm39)	N474S	probably damaging	Het
Mvb12b	A	G	2: 33,730,169 (GRCm39)		probably null	Het
Myh6	T	C	14: 55,182,131 (GRCm39)	K1759R	probably damaging	Het
Nfatc1	T	C	18: 80,678,746 (GRCm39)	K881E	possibly damaging	Het
Nlrp10	A	G	7: 108,526,248 (GRCm39)	F30S	probably damaging	Het
Nop14	G	T	5: 34,807,672 (GRCm39)	A430E	possibly damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or1j18	A	T	2: 36,624,854 (GRCm39)	I174F	probably damaging	Het
Or4c107	A	G	2: 88,789,211 (GRCm39)	I134V	probably damaging	Het
Or4c108	A	G	2: 88,803,482 (GRCm39)	V251A	probably benign	Het
Or6c205	A	G	10: 129,086,463 (GRCm39)	E20G	probably benign	Het
Or6c88	A	T	10: 129,407,217 (GRCm39)	Q231L	probably damaging	Het
Or7g17	A	T	9: 18,768,782 (GRCm39)	Y287F	possibly damaging	Het
Osbpl7	C	A	11: 96,949,954 (GRCm39)	S378R	probably damaging	Het
Otof	A	T	5: 30,529,067 (GRCm39)	Y1775*	probably null	Het
Parp16	T	C	9: 65,122,876 (GRCm39)	S46P	possibly damaging	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pi16	A	T	17: 29,538,361 (GRCm39)	Q58L	possibly damaging	Het
Pld3	C	A	7: 27,238,877 (GRCm39)	M190I	probably benign	Het
Plscr4	T	G	9: 92,372,099 (GRCm39)	I290S	probably damaging	Het
Ppip5k2	T	C	1: 97,651,531 (GRCm39)	D928G	possibly damaging	Het
Ppp1r13l	T	A	7: 19,102,536 (GRCm39)	L15Q	probably damaging	Het
Prorp	T	A	12: 55,351,117 (GRCm39)	I142N	possibly damaging	Het
Ptpn14	C	A	1: 189,571,699 (GRCm39)	S263R	possibly damaging	Het
Sema7a	G	A	9: 57,862,182 (GRCm39)	V178I	possibly damaging	Het
Sesn2	A	T	4: 132,224,381 (GRCm39)	Y342*	probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sltm	A	G	9: 70,450,314 (GRCm39)	N38S	possibly damaging	Het
Smg1	T	C	7: 117,753,845 (GRCm39)		probably benign	Het
Spsb1	A	T	4: 149,991,367 (GRCm39)	V67E	probably damaging	Het
Suox	A	G	10: 128,506,408 (GRCm39)	V540A	possibly damaging	Het
Tbc1d12	T	A	19: 38,899,529 (GRCm39)	I483N	probably damaging	Het
Tbcb	A	T	7: 29,923,924 (GRCm39)	D198E	possibly damaging	Het
Tbce	T	C	13: 14,194,294 (GRCm39)	K122E	probably benign	Het
Tcap	T	A	11: 98,275,205 (GRCm39)	L113H	probably damaging	Het
Thsd7a	A	T	6: 12,321,040 (GRCm39)	I1545N	probably damaging	Het
Tmed10	T	C	12: 85,421,277 (GRCm39)	T55A	possibly damaging	Het
Tmem268	T	A	4: 63,498,180 (GRCm39)	V200D	probably damaging	Het
Tmem45b	A	C	9: 31,342,651 (GRCm39)	I50M	probably damaging	Het
Ttn	C	T	2: 76,594,377 (GRCm39)	V20524M	probably damaging	Het
Ulk2	A	T	11: 61,703,564 (GRCm39)	N379K	probably benign	Het
Vmn1r59	A	G	7: 5,457,553 (GRCm39)	V69A	probably benign	Het
Vmn2r10	A	T	5: 109,149,861 (GRCm39)	Y394*	probably null	Het
Zfp212	T	C	6: 47,908,475 (GRCm39)	S485P	probably benign	Het
Zfp512b	A	T	2: 181,227,528 (GRCm39)	C776S	probably damaging	Het
Zfp518b	A	G	5: 38,829,084 (GRCm39)	Y974H	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
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
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'- TGTAATCTGAGCGGCGAAG -3'
(R):5'- GGGCATCATAAATTTAAGCCTTGTG -3'

Sequencing Primer
(F):5'- GAAGCCCACGTGGTCTTTC -3'
(R):5'- GAACCTGAGTCTTCTTCAAGAGCAG -3'

Posted On

2014-06-23