Mutagenetix > Incidental Mutation

Incidental Mutation 'R0531:Bcar3'

49145

Institutional Source

Beutler Lab

Gene Symbol

Bcar3

Ensembl Gene

ENSMUSG00000028121

Gene Name

breast cancer anti-estrogen resistance 3

Synonyms

AND-34

MMRRC Submission

038723-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.561) question?

Stock #

R0531 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122213406-122323840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122220148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 15 (V15A)

Ref Sequence

ENSEMBL: ENSMUSP00000029766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029766]

AlphaFold

Q9QZK2

Predicted Effect

probably benign
Transcript: ENSMUST00000029766
AA Change: V15A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029766
Gene: ENSMUSG00000028121
AA Change: V15A

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

noncoding transcript
Transcript: ENSMUST00000196134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197198

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200544

Meta Mutation Damage Score

0.0771

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

100% (69/69)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,892,127 (GRCm39)	N130D	probably benign	Het
Acot6	C	A	12: 84,148,075 (GRCm39)	D110E	probably benign	Het
Agrn	T	A	4: 156,263,891 (GRCm39)	N124I	probably benign	Het
Astn1	G	T	1: 158,427,959 (GRCm39)	G710V	probably damaging	Het
Best3	T	C	10: 116,840,280 (GRCm39)		probably benign	Het
Bltp1	T	A	3: 37,090,974 (GRCm39)	I743N	probably damaging	Het
Cenpa	T	C	5: 30,829,837 (GRCm39)	F39L	possibly damaging	Het
Cfap44	A	T	16: 44,221,789 (GRCm39)	M1L	probably benign	Het
Chrnd	A	G	1: 87,122,541 (GRCm39)	I107M	probably damaging	Het
Col11a2	A	G	17: 34,277,351 (GRCm39)		probably benign	Het
Dnah10	G	A	5: 124,889,787 (GRCm39)		probably null	Het
Entpd8	A	G	2: 24,974,781 (GRCm39)	Y404C	probably damaging	Het
Fam118a	T	C	15: 84,932,633 (GRCm39)	I125T	possibly damaging	Het
Fam161a	G	A	11: 22,970,298 (GRCm39)	E159K	possibly damaging	Het
Fkbp5	A	T	17: 28,657,003 (GRCm39)	H71Q	probably benign	Het
Frem2	A	T	3: 53,427,375 (GRCm39)	Y2926N	probably damaging	Het
Gap43	A	T	16: 42,112,691 (GRCm39)	D23E	probably damaging	Het
Glt8d1	T	C	14: 30,728,461 (GRCm39)	F3S	probably benign	Het
Gm11555	C	T	11: 99,540,844 (GRCm39)		probably benign	Het
Gtpbp1	G	A	15: 79,604,292 (GRCm39)	G667S	probably damaging	Het
H2-T24	A	C	17: 36,326,463 (GRCm39)	S145R	probably benign	Het
Inpp5b	A	T	4: 124,689,249 (GRCm39)	N843I	probably damaging	Het
Jak3	C	T	8: 72,139,620 (GRCm39)		probably benign	Het
Krt8	T	A	15: 101,909,883 (GRCm39)	M174L	probably benign	Het
Ktn1	C	T	14: 47,901,398 (GRCm39)	T52I	probably damaging	Het
Lrp4	T	C	2: 91,305,523 (GRCm39)		probably benign	Het
Nefh	G	A	11: 4,890,240 (GRCm39)	A793V	probably damaging	Het
Niban1	T	C	1: 151,593,835 (GRCm39)	V840A	probably benign	Het
Notch1	A	G	2: 26,356,584 (GRCm39)	S1678P	probably benign	Het
Notch2	C	T	3: 98,009,767 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 88,762,112 (GRCm39)	F53S	probably damaging	Het
Or10d4c	A	G	9: 39,558,168 (GRCm39)	T49A	probably benign	Het
Or2ab1	A	G	11: 58,488,674 (GRCm39)	I151V	probably benign	Het
Or5ac25	T	A	16: 59,182,171 (GRCm39)	N137Y	probably damaging	Het
Or6z5	A	T	7: 6,477,234 (GRCm39)	I42F	possibly damaging	Het
Or8g17	G	T	9: 38,930,472 (GRCm39)	R122S	probably damaging	Het
Or9i16	C	T	19: 13,865,116 (GRCm39)	V153I	possibly damaging	Het
Pak4	T	A	7: 28,267,479 (GRCm39)	I62F	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,371 (GRCm39)	F506I	probably damaging	Het
Per1	A	T	11: 68,995,016 (GRCm39)	D632V	probably damaging	Het
Plec	A	G	15: 76,061,498 (GRCm39)	M2678T	probably benign	Het
Plg	A	G	17: 12,630,334 (GRCm39)		probably benign	Het
Prmt1	A	T	7: 44,627,048 (GRCm39)	S304R	probably damaging	Het
Prr27	T	C	5: 87,990,537 (GRCm39)	F50L	probably benign	Het
Prune2	T	C	19: 16,984,117 (GRCm39)	L159P	probably damaging	Het
Ptpn12	A	T	5: 21,203,481 (GRCm39)	N432K	possibly damaging	Het
Rfwd3	A	G	8: 112,020,621 (GRCm39)		probably null	Het
Rims2	A	T	15: 39,430,426 (GRCm39)	D1170V	probably damaging	Het
Sag	T	C	1: 87,762,351 (GRCm39)		probably null	Het
Sall4	C	T	2: 168,598,256 (GRCm39)	A195T	probably benign	Het
Sbf2	G	A	7: 109,966,530 (GRCm39)		probably benign	Het
Scaper	A	T	9: 55,517,158 (GRCm39)	D599E	possibly damaging	Het
Sema7a	G	A	9: 57,867,876 (GRCm39)	S484N	possibly damaging	Het
Senp1	A	G	15: 97,962,761 (GRCm39)		probably benign	Het
Senp6	A	G	9: 80,031,166 (GRCm39)	T623A	probably damaging	Het
Siae	A	G	9: 37,539,090 (GRCm39)	D95G	probably benign	Het
Slc26a2	T	C	18: 61,331,451 (GRCm39)	D660G	probably damaging	Het
Slc3a1	T	C	17: 85,336,077 (GRCm39)	F73S	possibly damaging	Het
Slfn5	A	T	11: 82,851,866 (GRCm39)	Q664L	probably damaging	Het
Spire1	T	C	18: 67,624,375 (GRCm39)	I512V	probably damaging	Het
Srpra	A	G	9: 35,124,797 (GRCm39)	T133A	probably benign	Het
Stag1	A	G	9: 100,836,300 (GRCm39)	*175W	probably null	Het
Stk32c	C	A	7: 138,700,636 (GRCm39)	V316F	probably damaging	Het
Tekt1	A	C	11: 72,236,420 (GRCm39)	N347K	possibly damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Tnpo2	T	A	8: 85,776,786 (GRCm39)	C498S	probably damaging	Het
Tra2b	G	A	16: 22,065,955 (GRCm39)	R281*	probably null	Het
Ubr5	A	T	15: 37,991,588 (GRCm39)	I1985N	probably benign	Het
Ush2a	T	G	1: 188,175,378 (GRCm39)	S1159A	probably benign	Het
Vmn1r15	C	T	6: 57,235,236 (GRCm39)	P35S	probably benign	Het
Vmn1r6	A	T	6: 56,979,583 (GRCm39)	I60L	probably benign	Het
Vps8	A	G	16: 21,278,561 (GRCm39)		probably benign	Het
Xkr7	T	C	2: 152,874,272 (GRCm39)	V113A	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
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
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'- TGTTTGGATTTGCTACCCATCCAGC -3'
(R):5'- TGACTTTTCTCGCAGGACGTGAC -3'

Sequencing Primer
(F):5'- aaagggagagagagagagagag -3'
(R):5'- ACCTGAAGATGAAGTTTTCCCC -3'

Posted On

2013-06-12