Mutagenetix > Incidental Mutation

Incidental Mutation 'R9631:Bcar3'

725485

Institutional Source

Beutler Lab

Gene Symbol

Bcar3

Ensembl Gene

ENSMUSG00000028121

Gene Name

breast cancer anti-estrogen resistance 3

Synonyms

AND-34

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.561) question?

Stock #

R9631 (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 122301801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 165 (D165E)

Ref Sequence

ENSEMBL: ENSMUSP00000029766 (fasta)

Gene Model

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

AlphaFold

Q9QZK2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029766
AA Change: D165E

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000029766
Gene: ENSMUSG00000028121
AA Change: D165E

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
AA Change: D80E

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142469
Gene: ENSMUSG00000028121
AA Change: D80E

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

possibly damaging
Transcript: ENSMUST00000199358
AA Change: D45E

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142340
Gene: ENSMUSG00000028121
AA Change: D45E

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: 99.7%
20x: 99.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atl3	A	G	19: 7,509,553 (GRCm39)	N427S	probably benign	Het
Brap	T	C	5: 121,822,435 (GRCm39)	I437T	probably benign	Het
Bspry	T	C	4: 62,400,955 (GRCm39)		probably null	Het
Camkv	G	T	9: 107,822,990 (GRCm39)	V77L	probably benign	Het
Capn15	A	T	17: 26,182,409 (GRCm39)	D566E	probably damaging	Het
Ccar2	A	G	14: 70,389,344 (GRCm39)	V76A	probably damaging	Het
Ccdc142	T	C	6: 83,084,142 (GRCm39)	C516R	probably benign	Het
Ccdc92b	T	A	11: 74,520,845 (GRCm39)	V49E		Het
Ccr7	A	G	11: 99,036,616 (GRCm39)	V102A	probably benign	Het
Cdh23	A	T	10: 60,243,168 (GRCm39)	V1069E	possibly damaging	Het
Cimip2c	A	G	5: 30,639,529 (GRCm39)	D152G		Het
Clpb	T	G	7: 101,434,605 (GRCm39)	V467G	possibly damaging	Het
Crebzf	T	A	7: 90,093,013 (GRCm39)	L264Q	probably damaging	Het
Ctif	A	G	18: 75,605,025 (GRCm39)	F505L	probably benign	Het
Cyp2j5	A	G	4: 96,529,522 (GRCm39)	I283T	probably benign	Het
Ddx39a	C	A	8: 84,447,729 (GRCm39)	H191Q	possibly damaging	Het
Dnajc9	A	T	14: 20,438,670 (GRCm39)		probably null	Het
Dock7	A	G	4: 98,854,560 (GRCm39)	L1568P	unknown	Het
Dpp10	T	C	1: 123,269,432 (GRCm39)	Y659C	probably damaging	Het
Eef1akmt3	A	G	10: 126,877,161 (GRCm39)	F35L	probably benign	Het
Etl4	A	T	2: 20,666,749 (GRCm39)	N52I	probably benign	Het
F5	T	A	1: 164,014,423 (GRCm39)	C565S	probably damaging	Het
Fam170b	T	C	14: 32,557,641 (GRCm39)	S159P	probably damaging	Het
Fitm2	A	G	2: 163,311,757 (GRCm39)	I152T	probably damaging	Het
Fn1	T	C	1: 71,625,387 (GRCm39)	D2473G	probably benign	Het
Fzd2	C	A	11: 102,496,916 (GRCm39)	D453E	probably benign	Het
Grm5	T	C	7: 87,624,560 (GRCm39)	Y376H	probably damaging	Het
H2-Q6	T	A	17: 35,644,292 (GRCm39)	H91Q	probably benign	Het
Hspa4	A	T	11: 53,160,582 (GRCm39)	V498E	possibly damaging	Het
Igsf10	A	T	3: 59,237,904 (GRCm39)	L759H	probably damaging	Het
Jph1	T	C	1: 17,161,607 (GRCm39)	T352A	probably damaging	Het
Kit	C	T	5: 75,767,689 (GRCm39)	T24M	possibly damaging	Het
Krtap28-13	T	G	1: 83,038,897 (GRCm39)	C61G	unknown	Het
Lgr5	T	A	10: 115,302,513 (GRCm39)	I293F	probably damaging	Het
Lyzl4	GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAAGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG	GGACACACTGCAGAGGGAGTGGAGAGAAAGGGACCCACCAGTGCAGGACACACTGCAGAGG	9: 121,413,055 (GRCm39)		probably null	Het
Mccc1	C	A	3: 36,014,185 (GRCm39)	E711*	probably null	Het
Mroh2b	C	T	15: 4,946,556 (GRCm39)	T452I	probably damaging	Het
Ms4a10	G	A	19: 10,944,451 (GRCm39)	T111I	probably damaging	Het
Myh11	A	T	16: 14,025,441 (GRCm39)	V1443E		Het
Oc90	A	G	15: 65,769,629 (GRCm39)	L76P	probably damaging	Het
Or10d3	G	A	9: 39,461,508 (GRCm39)	R220*	probably null	Het
Or4c118	T	C	2: 88,975,522 (GRCm39)		probably benign	Het
Or4f57	A	G	2: 111,791,377 (GRCm39)	F14L	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,607 (GRCm39)	I290N	probably damaging	Het
Or5b97	A	G	19: 12,878,502 (GRCm39)	V214A	possibly damaging	Het
Or8b57	A	G	9: 40,004,223 (GRCm39)	V13A	probably damaging	Het
Or8c10	G	A	9: 38,279,714 (GRCm39)	V281M	possibly damaging	Het
Or8g52	A	T	9: 39,631,161 (GRCm39)	T213S	possibly damaging	Het
Pgr	C	A	9: 8,900,847 (GRCm39)	Q127K	probably benign	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rfc1	C	T	5: 65,429,851 (GRCm39)	V852M	probably damaging	Het
Rin2	T	A	2: 145,718,437 (GRCm39)	L639H	probably damaging	Het
Rpap2	T	A	5: 107,768,292 (GRCm39)	W377R	probably damaging	Het
Senp7	T	C	16: 55,975,631 (GRCm39)	S446P	probably benign	Het
Sipa1l1	A	G	12: 82,387,776 (GRCm39)	M1V	probably null	Het
Slc25a36	A	C	9: 96,982,153 (GRCm39)	S61A	probably benign	Het
Sptbn2	C	T	19: 4,788,218 (GRCm39)	R1066W	probably damaging	Het
Tgm6	A	G	2: 129,977,810 (GRCm39)	S50G	probably benign	Het
Thada	T	C	17: 84,538,584 (GRCm39)	S1475G	probably benign	Het
Tln1	G	A	4: 43,545,694 (GRCm39)	A928V	probably damaging	Het
Trip11	G	A	12: 101,859,807 (GRCm39)	L357F	probably benign	Het
Ttc3	G	T	16: 94,171,581 (GRCm39)		probably benign	Het
Ttc38	T	C	15: 85,728,659 (GRCm39)	S204P	possibly damaging	Het
Vmn1r237	A	T	17: 21,534,660 (GRCm39)	I128F	probably benign	Het
Vmn2r50	A	T	7: 9,786,990 (GRCm39)	L39*	probably null	Het
Vps4b	A	G	1: 106,707,835 (GRCm39)	V216A	possibly damaging	Het
Zfp217	T	C	2: 169,956,790 (GRCm39)	N736S	possibly damaging	Het
Zfp985	A	G	4: 147,665,742 (GRCm39)	E25G	probably damaging	Het
Zfr	C	T	15: 12,154,628 (GRCm39)	R604*	probably null	Het
Zscan18	A	G	7: 12,505,657 (GRCm39)	S577P	possibly damaging	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
R7308:Bcar3	UTSW	3	122,302,142 (GRCm39)	missense	probably benign	0.00
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
Z1177:Bcar3	UTSW	3	122,298,667 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGACTCCTCTGGTCTCTGCAC -3'
(R):5'- CACCACTCTGTTGGGAGATG -3'

Sequencing Primer
(F):5'- TGGTCTCTGCACGCATG -3'
(R):5'- TTGCCCACGTAGCAGCG -3'

Posted On

2022-09-12