Mutagenetix > Incidental Mutation

Incidental Mutation 'R3196:Brap'

267639

Institutional Source

Beutler Lab

Gene Symbol

Brap

Ensembl Gene

ENSMUSG00000029458

Gene Name

BRCA1 associated protein

Synonyms

3010002G07Rik

MMRRC Submission

040617-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3196 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121798626-121825312 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121803259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 136 (V136I)

Ref Sequence

ENSEMBL: ENSMUSP00000143043 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031412] [ENSMUST00000031414] [ENSMUST00000111765] [ENSMUST00000111770] [ENSMUST00000142701] [ENSMUST00000140996] [ENSMUST00000195952]

AlphaFold

Q99MP8

Predicted Effect

probably benign
Transcript: ENSMUST00000031412

SMART Domains

Protein: ENSMUSP00000031412
Gene: ENSMUSG00000029456

Domain	Start	End	E-Value	Type
Pfam:HAD_2	45	231	1.6e-14	PFAM
Pfam:Hydrolase	88	225	5e-8	PFAM
Pfam:APH	287	531	1.8e-52	PFAM
Pfam:Acyl-CoA_dh_N	660	787	1.7e-15	PFAM
Pfam:Acyl-CoA_dh_M	791	892	2.7e-20	PFAM
Pfam:Acyl-CoA_dh_1	904	1055	1.1e-35	PFAM
Pfam:Acyl-CoA_dh_2	919	1037	6.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000031414
AA Change: V180I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000031414
Gene: ENSMUSG00000029458
AA Change: V180I

Domain	Start	End	E-Value	Type
Pfam:BRAP2	153	251	3.7e-38	PFAM
RING	263	302	7.92e-8	SMART
ZnF_UBP	315	364	1.68e-25	SMART
coiled coil region	430	535	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111765
AA Change: V150I

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107395
Gene: ENSMUSG00000029458
AA Change: V150I

Domain	Start	End	E-Value	Type
Pfam:BRAP2	117	226	3.5e-41	PFAM
RING	233	272	3.7e-10	SMART
ZnF_UBP	285	334	1.1e-27	SMART
coiled coil region	400	505	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111770

SMART Domains

Protein: ENSMUSP00000107400
Gene: ENSMUSG00000029456

Domain	Start	End	E-Value	Type
Pfam:HAD_2	45	231	2.3e-14	PFAM
Pfam:APH	287	523	3.2e-50	PFAM
Pfam:EcKinase	390	504	5.2e-8	PFAM
Pfam:Acyl-CoA_dh_N	660	787	3.4e-14	PFAM
Pfam:Acyl-CoA_dh_M	791	845	2.7e-13	PFAM
Pfam:Acyl-CoA_dh_1	904	1055	9.4e-36	PFAM
Pfam:Acyl-CoA_dh_2	919	1037	1.6e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127703

SMART Domains

Protein: ENSMUSP00000118574
Gene: ENSMUSG00000029458

Domain	Start	End	E-Value	Type
Pfam:BRAP2	1	39	6.3e-13	PFAM
RING	46	85	7.92e-8	SMART
ZnF_UBP	98	147	1.68e-25	SMART
coiled coil region	213	318	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133775

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142701
AA Change: V136I

PolyPhen 2 Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143043
Gene: ENSMUSG00000029458
AA Change: V136I

Domain	Start	End	E-Value	Type
Pfam:BRAP2	103	175	3.8e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148052

Predicted Effect

probably benign
Transcript: ENSMUST00000140996

Predicted Effect

probably benign
Transcript: ENSMUST00000195952

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified by its ability to bind to the nuclear localization signal of BRCA1 and other proteins. It is a cytoplasmic protein which may regulate nuclear targeting by retaining proteins with a nuclear localization signal in the cytoplasm. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality during organogenesis and subtle defects in cell cycle-dependent nuclear movement in neural progenitors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,132 (GRCm39)	N158K	probably benign	Het
Acnat1	G	C	4: 49,447,457 (GRCm39)	P357A	probably damaging	Het
Akap6	T	A	12: 53,119,240 (GRCm39)	C1102*	probably null	Het
Amelx	T	C	X: 167,964,826 (GRCm39)		probably benign	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Csgalnact1	TGG	TG	8: 68,913,737 (GRCm39)		probably null	Het
Csk	A	T	9: 57,537,556 (GRCm39)	C119*	probably null	Het
Dcbld1	T	C	10: 52,195,587 (GRCm39)	L265P	probably damaging	Het
Desi1	T	A	15: 81,887,976 (GRCm39)	K31N	probably damaging	Het
Dpy19l2	C	A	9: 24,607,285 (GRCm39)	G59C	probably damaging	Het
Eif2b5	T	C	16: 20,324,272 (GRCm39)	V498A	probably benign	Het
Epdr1	A	T	13: 19,778,815 (GRCm39)	Y94N	probably damaging	Het
Fat1	T	C	8: 45,404,905 (GRCm39)	V552A	probably benign	Het
Focad	A	G	4: 88,325,588 (GRCm39)	E151G	possibly damaging	Het
Frem1	A	G	4: 82,932,351 (GRCm39)	F117L	probably damaging	Het
Frem2	A	T	3: 53,444,752 (GRCm39)	Y2460N	probably damaging	Het
Gm3604	A	T	13: 62,517,868 (GRCm39)	C163*	probably null	Het
Gpalpp1	A	C	14: 76,336,063 (GRCm39)		probably null	Het
Grid2ip	A	G	5: 143,373,933 (GRCm39)	I858V	probably damaging	Het
Grin2b	ATTGTTGT	ATTGT	6: 135,709,453 (GRCm39)		probably benign	Het
Hps4	A	G	5: 112,512,429 (GRCm39)	T182A	probably damaging	Het
Impa1	A	T	3: 10,394,075 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,131,862 (GRCm39)	S606P	probably damaging	Het
Kif23	T	A	9: 61,839,193 (GRCm39)	R301*	probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lcp2	G	T	11: 34,040,670 (GRCm39)	A529S	probably benign	Het
Lhx8	G	A	3: 154,035,925 (GRCm39)	A22V	probably benign	Het
Lin28a	A	T	4: 133,735,235 (GRCm39)	S134T	possibly damaging	Het
Med27	T	A	2: 29,236,882 (GRCm39)	V9E	possibly damaging	Het
Mmp7	C	A	9: 7,692,219 (GRCm39)	S31R	probably benign	Het
Mtcl1	T	G	17: 66,650,829 (GRCm39)	E1545D	probably benign	Het
Muc16	A	G	9: 18,409,126 (GRCm39)	Y187H	probably damaging	Het
Myo3a	G	T	2: 22,404,679 (GRCm39)	K678N	possibly damaging	Het
Nsmce1	T	C	7: 125,085,645 (GRCm39)	M15V	probably benign	Het
Nxpe3	A	T	16: 55,670,078 (GRCm39)	N342K	probably damaging	Het
Or7g25	A	G	9: 19,160,495 (GRCm39)	S67P	probably damaging	Het
Or8g2	T	A	9: 39,821,756 (GRCm39)	I219N	probably damaging	Het
Pcdhb9	A	G	18: 37,534,663 (GRCm39)	N219S	probably benign	Het
Pck2	T	A	14: 55,781,449 (GRCm39)	V190E	probably damaging	Het
Pde4b	G	A	4: 102,456,840 (GRCm39)	A429T	probably damaging	Het
Phf1	T	C	17: 27,153,429 (GRCm39)	V54A	probably damaging	Het
Pla2r1	T	C	2: 60,353,127 (GRCm39)	E278G	probably damaging	Het
Ptges3	G	T	10: 127,908,016 (GRCm39)	R122L	probably benign	Het
Rnpepl1	C	T	1: 92,844,881 (GRCm39)	T391I	probably damaging	Het
Rps6kb1	G	A	11: 86,397,633 (GRCm39)	A404V	probably benign	Het
Rrm2b	T	C	15: 37,945,391 (GRCm39)		probably null	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Skint9	T	G	4: 112,248,148 (GRCm39)	I199L	probably benign	Het
Slc9b2	G	T	3: 135,042,290 (GRCm39)	R523L	probably benign	Het
Slco1c1	T	A	6: 141,477,174 (GRCm39)		probably null	Het
Stox2	T	C	8: 47,645,865 (GRCm39)	T532A	probably damaging	Het
Tbcel	A	G	9: 42,327,248 (GRCm39)	L385P	probably damaging	Het
Tle5	A	G	10: 81,401,474 (GRCm39)	N181D	probably benign	Het
Tmem268	G	A	4: 63,496,149 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top3a	G	A	11: 60,650,182 (GRCm39)	T122M	probably damaging	Het
Trav7n-4	G	A	14: 53,329,088 (GRCm39)	V33I	probably benign	Het
Ttn	T	G	2: 76,539,551 (GRCm39)	E26151D	possibly damaging	Het
Ttn	C	T	2: 76,687,228 (GRCm39)		probably benign	Het
Tyk2	A	G	9: 21,035,328 (GRCm39)	C195R	possibly damaging	Het
Ugt2b38	T	C	5: 87,558,078 (GRCm39)	K528E	probably damaging	Het
Usp28	T	A	9: 48,937,125 (GRCm39)	D483E	probably benign	Het
Vldlr	A	G	19: 27,220,554 (GRCm39)	D598G	probably damaging	Het
Vmn1r51	T	G	6: 90,106,498 (GRCm39)	I138S	probably damaging	Het
Vps13b	G	A	15: 35,869,541 (GRCm39)	A2682T	probably damaging	Het
Wac	T	A	18: 7,917,568 (GRCm39)	V346E	probably damaging	Het
Zdbf2	T	C	1: 63,347,579 (GRCm39)	V1986A	possibly damaging	Het

Other mutations in Brap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Brap	APN	5	121,803,290 (GRCm39)	missense	probably damaging	1.00
IGL01672:Brap	APN	5	121,816,908 (GRCm39)	unclassified	probably benign
IGL01889:Brap	APN	5	121,798,881 (GRCm39)	missense	probably benign	0.00
IGL01977:Brap	APN	5	121,816,910 (GRCm39)	unclassified	probably benign
IGL01978:Brap	APN	5	121,816,910 (GRCm39)	unclassified	probably benign
IGL01996:Brap	APN	5	121,816,910 (GRCm39)	unclassified	probably benign
IGL02499:Brap	APN	5	121,817,934 (GRCm39)	missense	probably damaging	0.99
IGL03137:Brap	APN	5	121,803,156 (GRCm39)	splice site	probably benign
R1185:Brap	UTSW	5	121,813,342 (GRCm39)	missense	probably damaging	1.00
R1185:Brap	UTSW	5	121,813,342 (GRCm39)	missense	probably damaging	1.00
R1185:Brap	UTSW	5	121,813,342 (GRCm39)	missense	probably damaging	1.00
R1624:Brap	UTSW	5	121,820,922 (GRCm39)	missense	possibly damaging	0.65
R1709:Brap	UTSW	5	121,803,353 (GRCm39)	critical splice donor site	probably null
R2056:Brap	UTSW	5	121,801,529 (GRCm39)	missense	probably damaging	1.00
R2109:Brap	UTSW	5	121,801,422 (GRCm39)	missense	possibly damaging	0.63
R4591:Brap	UTSW	5	121,800,113 (GRCm39)	missense	probably null	1.00
R4744:Brap	UTSW	5	121,800,193 (GRCm39)	missense	probably damaging	1.00
R4924:Brap	UTSW	5	121,803,318 (GRCm39)	missense	probably damaging	1.00
R5000:Brap	UTSW	5	121,800,089 (GRCm39)	nonsense	probably null
R5702:Brap	UTSW	5	121,803,206 (GRCm39)	missense	probably damaging	1.00
R5893:Brap	UTSW	5	121,817,405 (GRCm39)	nonsense	probably null
R6244:Brap	UTSW	5	121,803,372 (GRCm39)	missense	probably benign	0.02
R6266:Brap	UTSW	5	121,823,328 (GRCm39)	missense	probably benign	0.00
R6726:Brap	UTSW	5	121,813,365 (GRCm39)	missense	probably damaging	1.00
R7765:Brap	UTSW	5	121,800,192 (GRCm39)	missense	probably damaging	1.00
R7995:Brap	UTSW	5	121,820,909 (GRCm39)	missense	probably benign
R8385:Brap	UTSW	5	121,823,197 (GRCm39)	missense	probably benign	0.05
R8465:Brap	UTSW	5	121,817,358 (GRCm39)	nonsense	probably null
R8809:Brap	UTSW	5	121,822,524 (GRCm39)	missense	possibly damaging	0.78
R8827:Brap	UTSW	5	121,810,261 (GRCm39)	missense	probably benign	0.00
R9191:Brap	UTSW	5	121,823,350 (GRCm39)	missense	probably benign	0.01
R9631:Brap	UTSW	5	121,822,435 (GRCm39)	missense	probably benign	0.16
R9705:Brap	UTSW	5	121,801,373 (GRCm39)	missense	probably benign
X0003:Brap	UTSW	5	121,817,319 (GRCm39)	missense	probably damaging	1.00
Z1176:Brap	UTSW	5	121,813,440 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- ACCCAGGTACCCATAGTGTG -3'
(R):5'- GGAGCCATATCTGAATTTGAGGC -3'

Sequencing Primer
(F):5'- ACCCATAGTGTGTGTTTCAAGC -3'
(R):5'- TCTGAATTTGAGGCATAAAACCCAC -3'

Posted On

2015-02-18