Mutagenetix > Incidental Mutation

Incidental Mutation 'R6996:Bcar3'

544192

Institutional Source

Beutler Lab

Gene Symbol

Bcar3

Ensembl Gene

ENSMUSG00000028121

Gene Name

breast cancer anti-estrogen resistance 3

Synonyms

AND-34

MMRRC Submission

045102-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.561) question?

Stock #

R6996 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122213406-122323840 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 122302033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 123 (I123V)

Ref Sequence

ENSEMBL: ENSMUSP00000142340 (fasta)

Gene Model

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

AlphaFold

Q9QZK2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029766
AA Change: I243V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029766
Gene: ENSMUSG00000028121
AA Change: I243V

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: I158V

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142469
Gene: ENSMUSG00000028121
AA Change: I158V

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: I123V

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000142340
Gene: ENSMUSG00000028121
AA Change: I123V

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: 99.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	A	8: 25,296,517 (GRCm39)	S310L	probably damaging	Het
Adamts16	C	T	13: 70,946,157 (GRCm39)		probably null	Het
Arrb1	C	A	7: 99,240,569 (GRCm39)	D194E	probably benign	Het
Atp1a3	T	C	7: 24,697,051 (GRCm39)	D217G	probably damaging	Het
Bdp1	G	A	13: 100,180,321 (GRCm39)	L1833F	probably damaging	Het
Cdc14a	T	C	3: 116,122,355 (GRCm39)	Y155C	probably damaging	Het
Cdo1	C	A	18: 46,853,380 (GRCm39)	R126M	possibly damaging	Het
Cfap99	G	T	5: 34,484,604 (GRCm39)	R627L	probably damaging	Het
Efr3a	T	A	15: 65,720,030 (GRCm39)	L369*	probably null	Het
Erich6	A	C	3: 58,543,516 (GRCm39)	F185V	probably damaging	Het
Fam186a	T	C	15: 99,853,374 (GRCm39)	D122G	unknown	Het
Fank1	A	G	7: 133,478,627 (GRCm39)	I230M	possibly damaging	Het
Flg2	A	T	3: 93,109,977 (GRCm39)	E668D	unknown	Het
Flg2	A	C	3: 93,110,256 (GRCm39)	R761S	unknown	Het
Gabrr1	T	C	4: 33,158,157 (GRCm39)	L260P	probably damaging	Het
Gfm2	G	A	13: 97,285,868 (GRCm39)	R119K	probably damaging	Het
Gm14226	A	G	2: 154,866,357 (GRCm39)	T105A	probably benign	Het
Gm14496	A	G	2: 181,637,997 (GRCm39)	N357S	probably damaging	Het
Gm5916	G	A	9: 36,039,935 (GRCm39)	L18F	probably benign	Het
Golm1	A	T	13: 59,790,058 (GRCm39)	N247K	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Greb1	C	T	12: 16,773,355 (GRCm39)	A240T	probably benign	Het
Gtf3c6	T	C	10: 40,125,774 (GRCm39)	M148V	probably benign	Het
Guca1a	T	C	17: 47,706,102 (GRCm39)	S126G	probably benign	Het
Hacl1	A	T	14: 31,337,380 (GRCm39)	I393N	possibly damaging	Het
Hddc3	A	G	7: 79,993,498 (GRCm39)	D68G	possibly damaging	Het
Hsfy2	T	C	1: 56,675,569 (GRCm39)	T323A	possibly damaging	Het
Kcng2	T	C	18: 80,366,358 (GRCm39)		probably benign	Het
Kdm2a	G	T	19: 4,395,669 (GRCm39)	P321T	probably benign	Het
Krt31	A	G	11: 99,938,558 (GRCm39)	V345A	probably benign	Het
Lrrc37	A	T	11: 103,509,583 (GRCm39)	L795*	probably null	Het
Mettl1	T	C	10: 126,880,887 (GRCm39)	S193P	probably benign	Het
Mme	G	A	3: 63,253,523 (GRCm39)	D456N	possibly damaging	Het
Mmrn1	A	G	6: 60,954,367 (GRCm39)	T883A	probably benign	Het
Mphosph10	C	G	7: 64,038,669 (GRCm39)	E293Q	probably benign	Het
Muc16	C	A	9: 18,557,193 (GRCm39)	K3033N	unknown	Het
Myo16	C	T	8: 10,619,496 (GRCm39)	T1349M	probably damaging	Het
Myo5c	T	C	9: 75,157,746 (GRCm39)	I233T	probably benign	Het
Or4p4b-ps1	A	G	2: 88,454,189 (GRCm39)	T181A	unknown	Het
Or52a33	T	G	7: 103,289,065 (GRCm39)	N94T	probably benign	Het
Or52ac1	A	T	7: 104,246,018 (GRCm39)	F123L	probably benign	Het
Or5b111	A	T	19: 13,291,036 (GRCm39)	S204R	probably benign	Het
Or5h22	A	G	16: 58,894,555 (GRCm39)	M296T	probably benign	Het
Or6c2	T	A	10: 129,362,732 (GRCm39)	V212E	probably damaging	Het
Or7c70	C	A	10: 78,683,351 (GRCm39)	V133L	probably benign	Het
Oxct2b	A	G	4: 123,011,480 (GRCm39)	I467V	probably benign	Het
Parp1	A	T	1: 180,414,936 (GRCm39)	N425Y	possibly damaging	Het
Pcdhgc3	T	A	18: 37,939,656 (GRCm39)	V19D	possibly damaging	Het
Pfkl	T	A	10: 77,833,423 (GRCm39)	I260F	probably damaging	Het
Pkd1l1	C	T	11: 8,799,046 (GRCm39)	G1789R	probably damaging	Het
Pla1a	G	A	16: 38,217,830 (GRCm39)	A386V	probably benign	Het
Pml	A	G	9: 58,142,169 (GRCm39)	L221P	probably damaging	Het
Rcn2	C	T	9: 55,964,845 (GRCm39)	Q268*	probably null	Het
Reps1	T	A	10: 17,969,603 (GRCm39)	D235E	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sap30bp	A	G	11: 115,824,314 (GRCm39)		probably benign	Het
Scn1a	A	T	2: 66,118,075 (GRCm39)	S1433T	probably damaging	Het
Sde2	T	C	1: 180,678,754 (GRCm39)	V6A	probably benign	Het
Sdk1	C	A	5: 142,197,769 (GRCm39)	R2141S	probably benign	Het
Setd2	T	C	9: 110,379,640 (GRCm39)	S1152P	probably damaging	Het
Slc26a2	C	T	18: 61,334,926 (GRCm39)	V176I	probably damaging	Het
Snx7	A	G	3: 117,640,281 (GRCm39)	I76T	possibly damaging	Het
Specc1l	C	A	10: 75,082,113 (GRCm39)	A520D	probably benign	Het
Spop	A	G	11: 95,362,136 (GRCm39)	T56A	possibly damaging	Het
Syne2	T	A	12: 76,074,786 (GRCm39)	D4576E	probably damaging	Het
Tas2r134	A	C	2: 51,517,601 (GRCm39)	M27L	probably benign	Het
Tecta	A	C	9: 42,278,082 (GRCm39)	I1142S	probably benign	Het
Timm44	T	C	8: 4,316,611 (GRCm39)	D311G	possibly damaging	Het
Tmem123	C	G	9: 7,791,071 (GRCm39)	T124R	possibly damaging	Het
Tmem184b	A	T	15: 79,246,959 (GRCm39)	L370Q	probably benign	Het
Trim25	T	A	11: 88,890,329 (GRCm39)	N5K	probably benign	Het
Vmn2r93	A	G	17: 18,524,903 (GRCm39)	Y187C	probably damaging	Het
Vpreb1a	A	G	16: 16,686,678 (GRCm39)	Y71H	probably damaging	Het
Vpreb1b	T	C	16: 17,798,441 (GRCm39)	S5P	probably benign	Het
Xpo7	A	T	14: 70,906,888 (GRCm39)	C939S	probably benign	Het
Zfp78	C	A	7: 6,381,764 (GRCm39)	S271R	probably benign	Het
Zic5	A	T	14: 122,702,080 (GRCm39)	M217K	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
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'- AGTGGAAGAACCTCGCTCAG -3'
(R):5'- GGTGAGTGTTCTAAAACCCTCTCC -3'

Sequencing Primer
(F):5'- GCACTTTAAGATCAACCGGACTGTC -3'
(R):5'- AGGTTTCCTCGGGGCAG -3'

Posted On

2019-05-13