Mutagenetix > Incidental Mutation

Incidental Mutation 'R7765:Brap'

598177

Institutional Source

Beutler Lab

Gene Symbol

Brap

Ensembl Gene

ENSMUSG00000029458

Gene Name

BRCA1 associated protein

Synonyms

3010002G07Rik

MMRRC Submission

045821-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121798626-121825312 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121800192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 71 (D71V)

Ref Sequence

ENSEMBL: ENSMUSP00000031414 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031412] [ENSMUST00000031414] [ENSMUST00000111765] [ENSMUST00000111770] [ENSMUST00000140996] [ENSMUST00000142701] [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 damaging
Transcript: ENSMUST00000031414
AA Change: D71V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031414
Gene: ENSMUSG00000029458
AA Change: D71V

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 damaging
Transcript: ENSMUST00000111765
AA Change: D41V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000107395
Gene: ENSMUSG00000029458
AA Change: D41V

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

probably damaging
Transcript: ENSMUST00000140996
AA Change: D71V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000142701
AA Change: D27V

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

SMART Domains

Protein: ENSMUSP00000143043
Gene: ENSMUSG00000029458
AA Change: D27V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000195952
AA Change: D30V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	T	C	14: 66,297,345 (GRCm39)	E187G	probably damaging	Het
Adam28	C	T	14: 68,846,555 (GRCm39)		probably null	Het
Ap2a1	G	A	7: 44,559,160 (GRCm39)	T189M	probably damaging	Het
Apaf1	A	G	10: 90,859,644 (GRCm39)	Y845H	probably benign	Het
Asb14	G	T	14: 26,619,718 (GRCm39)	V55F	probably benign	Het
Ccdc93	T	G	1: 121,427,042 (GRCm39)	F610V	probably damaging	Het
Cfap46	T	G	7: 139,231,480 (GRCm39)	D911A		Het
Chn2	T	C	6: 54,275,137 (GRCm39)		probably null	Het
Cib3	A	G	8: 72,958,269 (GRCm39)	F156S	probably damaging	Het
Csnk2a1-ps3	G	A	1: 156,352,354 (GRCm39)	G185D	possibly damaging	Het
Ctif	A	T	18: 75,738,715 (GRCm39)	V164D	probably damaging	Het
Ddx27	T	A	2: 166,869,879 (GRCm39)	F405I	probably damaging	Het
Dnttip2	A	G	3: 122,069,594 (GRCm39)	T270A	probably benign	Het
Dst	T	A	1: 34,314,775 (GRCm39)	S4455T	probably damaging	Het
Efcab8	A	G	2: 153,685,110 (GRCm39)	K47R		Het
Efhd2	T	C	4: 141,601,886 (GRCm39)	E98G	probably damaging	Het
Fcmr	T	A	1: 130,802,025 (GRCm39)	L93Q	probably damaging	Het
Fhdc1	T	A	3: 84,351,906 (GRCm39)	E1106D	probably benign	Het
Gcnt1	C	T	19: 17,306,723 (GRCm39)	G334D	probably damaging	Het
Hltf	T	C	3: 20,145,647 (GRCm39)	F488L	probably benign	Het
Hmgxb4	C	A	8: 75,727,436 (GRCm39)	H140N	probably damaging	Het
Ifi214	A	T	1: 173,352,402 (GRCm39)	F342L	probably damaging	Het
Ip6k1	A	G	9: 107,909,288 (GRCm39)	D105G	possibly damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kif18a	G	A	2: 109,137,285 (GRCm39)	D506N	probably benign	Het
Klf17	T	A	4: 117,617,812 (GRCm39)	M182L	probably benign	Het
Kmt2d	A	G	15: 98,750,215 (GRCm39)	F2493L	unknown	Het
Lefty1	A	G	1: 180,764,112 (GRCm39)	E84G	probably damaging	Het
Lyst	T	G	13: 13,884,117 (GRCm39)	L2975R	possibly damaging	Het
Magea5	G	A	X: 153,837,174 (GRCm39)	P73S	possibly damaging	Het
Mctp2	T	C	7: 71,740,079 (GRCm39)		probably null	Het
Mprip	C	T	11: 59,649,047 (GRCm39)	T917M	possibly damaging	Het
Myh8	T	A	11: 67,194,481 (GRCm39)	I1564N	probably benign	Het
Npc1	A	T	18: 12,328,105 (GRCm39)	M1068K	probably benign	Het
Nr2e1	A	G	10: 42,450,433 (GRCm39)	C60R	probably benign	Het
Nrxn3	A	G	12: 89,780,254 (GRCm39)	I29V	probably benign	Het
Ntsr1	T	A	2: 180,180,610 (GRCm39)	H305Q	probably damaging	Het
Or2y1e	A	G	11: 49,218,571 (GRCm39)	E111G	probably damaging	Het
Or8g35	A	G	9: 39,381,612 (GRCm39)	S137P	probably benign	Het
Or8h10	T	A	2: 86,808,538 (GRCm39)	I201F	probably damaging	Het
Pate2	A	C	9: 35,581,197 (GRCm39)	E22D	probably benign	Het
Pcdhb22	A	G	18: 37,652,158 (GRCm39)	T209A	probably damaging	Het
Pdss2	C	T	10: 43,340,628 (GRCm39)	S352F	probably benign	Het
Pfn3	T	A	13: 55,562,900 (GRCm39)	D27V	probably damaging	Het
Pigg	T	G	5: 108,461,920 (GRCm39)	S84A	probably benign	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Prss22	C	T	17: 24,213,592 (GRCm39)	G233E	probably damaging	Het
Rad51b	T	C	12: 79,850,044 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,438,970 (GRCm39)	V1632A	possibly damaging	Het
Serpinb3d	T	G	1: 107,007,512 (GRCm39)	D158A	probably damaging	Het
Sh3yl1	T	C	12: 31,008,868 (GRCm39)	L266P	probably damaging	Het
Sidt2	A	T	9: 45,852,873 (GRCm39)		probably null	Het
Stox1	C	T	10: 62,501,778 (GRCm39)	V261M	probably benign	Het
Taf7l2	T	A	10: 115,949,158 (GRCm39)	K123*	probably null	Het
Tll1	A	G	8: 64,504,483 (GRCm39)	Y638H	probably damaging	Het
Tst	A	T	15: 78,289,816 (GRCm39)	M73K	possibly damaging	Het
Tuba4a	C	T	1: 75,193,003 (GRCm39)	V232M	probably benign	Het
Unk	T	A	11: 115,943,908 (GRCm39)	V343D	probably benign	Het
Usf3	T	C	16: 44,039,426 (GRCm39)	V1302A	probably benign	Het
Usp32	A	T	11: 84,885,234 (GRCm39)	L1271H	probably damaging	Het
Vwa5b2	C	T	16: 20,413,361 (GRCm39)	P192L	probably benign	Het
Zfp995	A	G	17: 22,100,984 (GRCm39)	Y38H	probably 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
R3196:Brap	UTSW	5	121,803,259 (GRCm39)	missense	possibly damaging	0.70
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
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'- AAAAGAGCCTCATCCAGGGG -3'
(R):5'- ATCACATAAAGAACACAAGTGCTGG -3'

Sequencing Primer
(F):5'- CAGGAAAGCTATTGATTGATGTGCC -3'
(R):5'- GCGCTAGCCTTACATGTATGAAGC -3'

Posted On

2019-11-26