Mutagenetix > Incidental Mutation

Incidental Mutation 'R7308:Bcar3'

567382

Institutional Source

Beutler Lab

Gene Symbol

Bcar3

Ensembl Gene

ENSMUSG00000028121

Gene Name

breast cancer anti-estrogen resistance 3

Synonyms

AND-34

MMRRC Submission

045323-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.561) question?

Stock #

R7308 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122213406-122323840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 122302142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 279 (V279E)

Ref Sequence

ENSEMBL: ENSMUSP00000029766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029766] [ENSMUST00000197073] [ENSMUST00000198659] [ENSMUST00000199344] [ENSMUST00000199358]

AlphaFold

Q9QZK2

Predicted Effect

probably benign
Transcript: ENSMUST00000029766
AA Change: V279E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000029766
Gene: ENSMUSG00000028121
AA Change: V279E

Domain	Start	End	E-Value	Type
low complexity region	126	145	N/A	INTRINSIC
SH2	146	234	3.17e-21	SMART
low complexity region	395	406	N/A	INTRINSIC
RasGEF	539	814	2.55e-52	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000197073

SMART Domains

Protein: ENSMUSP00000142469
Gene: ENSMUSG00000028121

Domain	Start	End	E-Value	Type
low complexity region	41	60	N/A	INTRINSIC
SH2	61	149	2e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198659

SMART Domains

Protein: ENSMUSP00000143112
Gene: ENSMUSG00000028121

Domain	Start	End	E-Value	Type
low complexity region	46	57	N/A	INTRINSIC
PDB:3T6A\|D	149	186	4e-13	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000199344

SMART Domains

Protein: ENSMUSP00000143711
Gene: ENSMUSG00000028121

Domain	Start	End	E-Value	Type
low complexity region	46	57	N/A	INTRINSIC
PDB:3T6A\|D	149	261	3e-61	PDB
SCOP:d1bkds_	168	260	1e-7	SMART
Blast:RasGEF	190	261	2e-42	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000199358

SMART Domains

Protein: ENSMUSP00000142340
Gene: ENSMUSG00000028121

Domain	Start	End	E-Value	Type
low complexity region	6	25	N/A	INTRINSIC
SH2	26	114	2e-23	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit cataracts due to rupture of the lens capsule and liquefaction of lens cortical fibers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,022,993 (GRCm39)	I43T	probably benign	Het
Ankar	G	A	1: 72,690,953 (GRCm39)	Q1175*	probably null	Het
Aqr	G	A	2: 113,934,543 (GRCm39)	A1366V	possibly damaging	Het
Arhgap45	G	A	10: 79,862,392 (GRCm39)		probably null	Het
Atf7ip	T	A	6: 136,542,087 (GRCm39)	M607K	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC	3: 95,795,481 (GRCm39)		probably benign	Het
BC028528	TCACTGGTTCTGTGGTCACTGGTTCTGTGG	TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG	3: 95,795,464 (GRCm39)		probably benign	Het
Cd96	C	T	16: 45,892,097 (GRCm39)		probably null	Het
Cdca2	G	A	14: 67,932,440 (GRCm39)	P488S	probably benign	Het
Cfhr4	A	G	1: 139,682,041 (GRCm39)	V185A	possibly damaging	Het
Col4a2	T	G	8: 11,456,856 (GRCm39)		probably null	Het
Cyp4a12a	A	G	4: 115,184,955 (GRCm39)	R379G	possibly damaging	Het
Defb34	A	G	8: 19,176,395 (GRCm39)	S29G	probably benign	Het
Dnah11	A	G	12: 117,959,010 (GRCm39)	S2958P	probably damaging	Het
Dync1h1	A	G	12: 110,631,596 (GRCm39)	D4431G	possibly damaging	Het
Egfem1	A	T	3: 29,206,015 (GRCm39)	H84L	probably benign	Het
Enah	A	T	1: 181,733,950 (GRCm39)		probably null	Het
Fam178b	G	T	1: 36,698,488 (GRCm39)	Q78K	probably benign	Het
Glb1	A	G	9: 114,302,931 (GRCm39)	N589S	probably damaging	Het
Gm1527	C	T	3: 28,956,429 (GRCm39)	H132Y	probably benign	Het
Gm5799	A	G	14: 43,781,164 (GRCm39)	R22G	possibly damaging	Het
Grip2	T	C	6: 91,755,669 (GRCm39)	D617G	possibly damaging	Het
Hax1	A	T	3: 89,905,873 (GRCm39)	D5E	possibly damaging	Het
Hic1	A	G	11: 75,057,977 (GRCm39)	L304P	probably damaging	Het
Hmox1	T	A	8: 75,823,647 (GRCm39)	I105N	probably damaging	Het
Hormad1	T	C	3: 95,469,866 (GRCm39)	S38P	probably damaging	Het
Hspa4	A	G	11: 53,157,930 (GRCm39)	S558P	possibly damaging	Het
Kcnf1	T	A	12: 17,224,730 (GRCm39)	H497L	probably benign	Het
Kcnma1	C	T	14: 23,381,003 (GRCm39)	D1022N	probably damaging	Het
Kcnt1	T	C	2: 25,790,475 (GRCm39)	F479S	possibly damaging	Het
Krba1	T	C	6: 48,383,273 (GRCm39)	V203A	probably benign	Het
Lct	G	T	1: 128,246,824 (GRCm39)	P233Q	probably benign	Het
Ly75	T	C	2: 60,164,859 (GRCm39)	D773G	probably benign	Het
Malt1	T	C	18: 65,582,680 (GRCm39)		probably null	Het
Man1a2	A	T	3: 100,527,421 (GRCm39)	L333Q	probably damaging	Het
Mtus1	T	C	8: 41,535,965 (GRCm39)	T584A	probably benign	Het
Myof	A	T	19: 37,899,359 (GRCm39)	S1800R	probably damaging	Het
Nbea	A	C	3: 55,998,452 (GRCm39)	C118W	probably damaging	Het
Nsd3	A	T	8: 26,130,740 (GRCm39)	D35V	probably damaging	Het
Ntaq1	T	C	15: 58,016,006 (GRCm39)	V85A	possibly damaging	Het
Or11g24	G	A	14: 50,662,722 (GRCm39)	V249I	possibly damaging	Het
Or2y1c	G	A	11: 49,360,754 (GRCm39)		probably benign	Het
Pcnx3	C	T	19: 5,736,175 (GRCm39)	R217H	possibly damaging	Het
Pcsk4	G	A	10: 80,159,007 (GRCm39)	P462L	probably benign	Het
Pdia5	T	G	16: 35,276,879 (GRCm39)	K96N	probably damaging	Het
Pik3c2a	T	C	7: 115,973,074 (GRCm39)	Y707C	probably damaging	Het
Ppig	A	T	2: 69,579,806 (GRCm39)	N447Y	unknown	Het
Ppp1r9b	T	C	11: 94,895,397 (GRCm39)	L695P	possibly damaging	Het
Proser1	C	T	3: 53,386,125 (GRCm39)	A669V	probably benign	Het
Rdx	A	T	9: 51,980,170 (GRCm39)	K254N	probably damaging	Het
Slc35f2	T	C	9: 53,705,294 (GRCm39)	S95P	probably benign	Het
Slc4a3	T	A	1: 75,534,006 (GRCm39)	S1118T	probably benign	Het
Slf1	G	A	13: 77,199,287 (GRCm39)	P698L	probably benign	Het
Sptbn2	A	G	19: 4,801,602 (GRCm39)	E2338G	probably benign	Het
Taok3	T	A	5: 117,338,216 (GRCm39)	Y91*	probably null	Het
Tbc1d31	C	T	15: 57,816,212 (GRCm39)	L649F	probably damaging	Het
Tdpoz8	A	G	3: 92,981,872 (GRCm39)	T223A	probably benign	Het
Tmem132b	A	T	5: 125,864,710 (GRCm39)	I939F	possibly damaging	Het
Trav17	T	A	14: 54,044,436 (GRCm39)	Y69N	probably benign	Het
Trmt13	T	C	3: 116,388,388 (GRCm39)	D16G	probably benign	Het
Upf2	T	A	2: 5,978,329 (GRCm39)	Y398N	unknown	Het
Vmn1r238	T	C	18: 3,122,875 (GRCm39)	T180A	probably benign	Het
Zfp738	A	T	13: 67,817,672 (GRCm39)	I773N	probably benign	Het
Zscan4e	A	T	7: 11,041,080 (GRCm39)	M264K	probably benign	Het

Other mutations in Bcar3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00662:Bcar3	APN	3	122,306,585 (GRCm39)	missense	probably benign	0.36
IGL01372:Bcar3	APN	3	122,316,943 (GRCm39)	missense	probably damaging	1.00
IGL02681:Bcar3	APN	3	122,306,417 (GRCm39)	splice site	probably null
IGL03403:Bcar3	APN	3	122,306,618 (GRCm39)	missense	probably benign	0.01
R0408:Bcar3	UTSW	3	122,302,033 (GRCm39)	missense	probably damaging	0.98
R0531:Bcar3	UTSW	3	122,220,148 (GRCm39)	missense	probably benign	0.00
R0798:Bcar3	UTSW	3	122,318,948 (GRCm39)	missense	probably benign	0.01
R1445:Bcar3	UTSW	3	122,316,840 (GRCm39)	missense	probably damaging	0.98
R1892:Bcar3	UTSW	3	122,301,785 (GRCm39)	missense	probably benign	0.00
R2138:Bcar3	UTSW	3	122,306,645 (GRCm39)	missense	probably damaging	1.00
R3236:Bcar3	UTSW	3	122,318,645 (GRCm39)	missense	probably benign	0.02
R3237:Bcar3	UTSW	3	122,318,645 (GRCm39)	missense	probably benign	0.02
R3832:Bcar3	UTSW	3	122,220,298 (GRCm39)	missense	probably damaging	1.00
R4801:Bcar3	UTSW	3	122,323,243 (GRCm39)	missense	probably benign	0.22
R4802:Bcar3	UTSW	3	122,323,243 (GRCm39)	missense	probably benign	0.22
R5342:Bcar3	UTSW	3	122,220,298 (GRCm39)	missense	probably damaging	1.00
R5364:Bcar3	UTSW	3	122,323,281 (GRCm39)	missense	probably benign	0.41
R5560:Bcar3	UTSW	3	122,220,224 (GRCm39)	missense	possibly damaging	0.92
R5714:Bcar3	UTSW	3	122,248,736 (GRCm39)	missense	possibly damaging	0.88
R5716:Bcar3	UTSW	3	122,306,564 (GRCm39)	missense	probably damaging	1.00
R5944:Bcar3	UTSW	3	122,316,932 (GRCm39)	missense	probably benign
R6478:Bcar3	UTSW	3	122,220,225 (GRCm39)	missense	probably benign	0.04
R6615:Bcar3	UTSW	3	122,220,282 (GRCm39)	missense	probably benign	0.00
R6996:Bcar3	UTSW	3	122,302,033 (GRCm39)	missense	possibly damaging	0.95
R7272:Bcar3	UTSW	3	122,302,045 (GRCm39)	missense	possibly damaging	0.92
R7353:Bcar3	UTSW	3	122,306,341 (GRCm39)	missense	probably benign	0.00
R7465:Bcar3	UTSW	3	122,316,879 (GRCm39)	missense	probably benign	0.13
R7816:Bcar3	UTSW	3	122,220,343 (GRCm39)	missense	probably benign	0.00
R7899:Bcar3	UTSW	3	122,301,902 (GRCm39)	missense	probably damaging	0.97
R8066:Bcar3	UTSW	3	122,318,573 (GRCm39)	missense	probably damaging	1.00
R8165:Bcar3	UTSW	3	122,304,805 (GRCm39)	unclassified	probably benign
R8285:Bcar3	UTSW	3	122,306,383 (GRCm39)	missense	probably benign	0.00
R9224:Bcar3	UTSW	3	122,319,091 (GRCm39)	missense	probably damaging	1.00
R9340:Bcar3	UTSW	3	122,298,462 (GRCm39)	start gained	probably benign
R9480:Bcar3	UTSW	3	122,277,618 (GRCm39)	nonsense	probably null
R9631:Bcar3	UTSW	3	122,301,801 (GRCm39)	missense	possibly damaging	0.91
Z1177:Bcar3	UTSW	3	122,298,667 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCCGTGTGCAGTACCAATTC -3'
(R):5'- GGGTTAATCATGCACACTCGTG -3'

Sequencing Primer
(F):5'- CAATTCGAGATGGAGAGCTTTGACTC -3'
(R):5'- TGACCACTATCCACTGACGGTG -3'

Posted On

2019-06-26