Incidental Mutation 'R4755:Brca2'
| ID |
357901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Brca2
|
| Ensembl Gene |
ENSMUSG00000041147 |
| Gene Name |
breast cancer 2, early onset |
| Synonyms |
Fancd1, RAB163 |
| MMRRC Submission |
042033-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4755 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
150446095-150493794 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 150483452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144150
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044620]
[ENSMUST00000044620]
[ENSMUST00000202313]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044620
|
| SMART Domains |
Protein: ENSMUSP00000038576
Gene: ENSMUSG00000041147
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
746 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
904 |
917 |
N/A |
INTRINSIC |
|
Pfam:BRCA2
|
982 |
1014 |
2.6e-13 |
PFAM |
|
Pfam:BRCA2
|
1193 |
1225 |
3.9e-16 |
PFAM |
|
low complexity region
|
1239 |
1252 |
N/A |
INTRINSIC |
|
Pfam:BRCA2
|
1395 |
1425 |
1.4e-13 |
PFAM |
|
Pfam:BRCA2
|
1492 |
1524 |
1.8e-13 |
PFAM |
|
Pfam:BRCA2
|
1624 |
1655 |
8.4e-12 |
PFAM |
|
Pfam:BRCA2
|
1925 |
1957 |
8e-15 |
PFAM |
|
Pfam:BRCA2
|
2005 |
2037 |
1.7e-11 |
PFAM |
|
Pfam:BRCA-2_helical
|
2402 |
2588 |
1.3e-94 |
PFAM |
|
Pfam:BRCA-2_OB1
|
2591 |
2717 |
5.3e-44 |
PFAM |
|
Tower
|
2752 |
2793 |
2.37e-18 |
SMART |
|
Pfam:BRCA-2_OB3
|
2971 |
3104 |
1.5e-49 |
PFAM |
|
low complexity region
|
3197 |
3208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000044620
|
| SMART Domains |
Protein: ENSMUSP00000038576
Gene: ENSMUSG00000041147
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
746 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
904 |
917 |
N/A |
INTRINSIC |
|
Pfam:BRCA2
|
982 |
1014 |
2.6e-13 |
PFAM |
|
Pfam:BRCA2
|
1193 |
1225 |
3.9e-16 |
PFAM |
|
low complexity region
|
1239 |
1252 |
N/A |
INTRINSIC |
|
Pfam:BRCA2
|
1395 |
1425 |
1.4e-13 |
PFAM |
|
Pfam:BRCA2
|
1492 |
1524 |
1.8e-13 |
PFAM |
|
Pfam:BRCA2
|
1624 |
1655 |
8.4e-12 |
PFAM |
|
Pfam:BRCA2
|
1925 |
1957 |
8e-15 |
PFAM |
|
Pfam:BRCA2
|
2005 |
2037 |
1.7e-11 |
PFAM |
|
Pfam:BRCA-2_helical
|
2402 |
2588 |
1.3e-94 |
PFAM |
|
Pfam:BRCA-2_OB1
|
2591 |
2717 |
5.3e-44 |
PFAM |
|
Tower
|
2752 |
2793 |
2.37e-18 |
SMART |
|
Pfam:BRCA-2_OB3
|
2971 |
3104 |
1.5e-49 |
PFAM |
|
low complexity region
|
3197 |
3208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201648
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201843
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000202313
|
| SMART Domains |
Protein: ENSMUSP00000144150
Gene: ENSMUSG00000041147
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
746 |
761 |
N/A |
INTRINSIC |
|
low complexity region
|
904 |
917 |
N/A |
INTRINSIC |
|
Pfam:BRCA2
|
982 |
1014 |
2.6e-13 |
PFAM |
|
Pfam:BRCA2
|
1193 |
1225 |
3.9e-16 |
PFAM |
|
low complexity region
|
1239 |
1252 |
N/A |
INTRINSIC |
|
Pfam:BRCA2
|
1395 |
1425 |
1.4e-13 |
PFAM |
|
Pfam:BRCA2
|
1492 |
1524 |
1.8e-13 |
PFAM |
|
Pfam:BRCA2
|
1624 |
1655 |
8.4e-12 |
PFAM |
|
Pfam:BRCA2
|
1925 |
1957 |
8e-15 |
PFAM |
|
Pfam:BRCA2
|
2005 |
2037 |
1.7e-11 |
PFAM |
|
Pfam:BRCA-2_helical
|
2402 |
2588 |
1.3e-94 |
PFAM |
|
Pfam:BRCA-2_OB1
|
2591 |
2717 |
5.3e-44 |
PFAM |
|
Tower
|
2752 |
2793 |
2.37e-18 |
SMART |
|
Pfam:BRCA-2_OB3
|
2971 |
3104 |
1.5e-49 |
PFAM |
|
low complexity region
|
3197 |
3208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202693
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202727
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202837
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (112/117) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Inherited mutations in BRCA1 and this gene, BRCA2, confer increased lifetime risk of developing breast or ovarian cancer. Both BRCA1 and BRCA2 are involved in maintenance of genome stability, specifically the homologous recombination pathway for double-strand DNA repair. The BRCA2 protein contains several copies of a 70 aa motif called the BRC motif, and these motifs mediate binding to the RAD51 recombinase which functions in DNA repair. BRCA2 is considered a tumor suppressor gene, as tumors with BRCA2 mutations generally exhibit loss of heterozygosity (LOH) of the wild-type allele. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygous null mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA2 protein survive, are small, infertile, show improper tissue differentiation and develop lymphomas and carcinomas. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 113 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449A18Rik |
T |
A |
3: 59,733,280 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl2fm1 |
C |
T |
3: 59,843,735 (GRCm39) |
A143V |
probably benign |
Het |
| Accs |
T |
C |
2: 93,671,682 (GRCm39) |
E236G |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,257,979 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,930,946 (GRCm39) |
I929V |
possibly damaging |
Het |
| Akap5 |
C |
A |
12: 76,374,581 (GRCm39) |
C4* |
probably null |
Het |
| Amotl2 |
A |
T |
9: 102,597,679 (GRCm39) |
H146L |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,594,990 (GRCm39) |
N666S |
probably damaging |
Het |
| Atp10d |
A |
T |
5: 72,403,509 (GRCm39) |
T373S |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,161,614 (GRCm39) |
M582K |
probably benign |
Het |
| Ccdc149 |
A |
G |
5: 52,561,493 (GRCm39) |
V229A |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,156,662 (GRCm39) |
S1617P |
probably damaging |
Het |
| Cenpk |
A |
T |
13: 104,367,379 (GRCm39) |
M37L |
probably benign |
Het |
| Cenpk |
A |
T |
13: 104,386,020 (GRCm39) |
H305L |
probably benign |
Het |
| Ces5a |
C |
A |
8: 94,262,305 (GRCm39) |
A11S |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,967,520 (GRCm39) |
E186G |
probably damaging |
Het |
| Cfh |
T |
A |
1: 140,016,546 (GRCm39) |
I593F |
probably damaging |
Het |
| Clstn2 |
C |
T |
9: 97,327,726 (GRCm39) |
V961I |
probably benign |
Het |
| Cog5 |
T |
A |
12: 31,919,405 (GRCm39) |
|
probably null |
Het |
| Col4a4 |
T |
C |
1: 82,518,895 (GRCm39) |
D100G |
unknown |
Het |
| Cyp3a41a |
T |
C |
5: 145,652,316 (GRCm39) |
D61G |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,824,809 (GRCm39) |
N655S |
probably benign |
Het |
| Dnai1 |
C |
G |
4: 41,610,269 (GRCm39) |
T295R |
probably damaging |
Het |
| Dnajc6 |
C |
T |
4: 101,407,996 (GRCm39) |
A44V |
probably damaging |
Het |
| Eif4enif1 |
A |
T |
11: 3,194,016 (GRCm39) |
D960V |
probably damaging |
Het |
| Fam167b |
C |
T |
4: 129,472,135 (GRCm39) |
G12R |
probably damaging |
Het |
| Fam20b |
A |
T |
1: 156,515,066 (GRCm39) |
Y266* |
probably null |
Het |
| Fer1l6 |
T |
A |
15: 58,512,060 (GRCm39) |
V1509D |
probably benign |
Het |
| Fhad1 |
A |
T |
4: 141,655,794 (GRCm39) |
I105N |
probably damaging |
Het |
| Fmo2 |
T |
C |
1: 162,716,374 (GRCm39) |
D71G |
probably damaging |
Het |
| Folr2 |
T |
C |
7: 101,493,006 (GRCm39) |
T6A |
possibly damaging |
Het |
| Fry |
A |
C |
5: 150,321,719 (GRCm39) |
E1018A |
probably damaging |
Het |
| Gas2l2 |
A |
G |
11: 83,320,193 (GRCm39) |
I21T |
probably damaging |
Het |
| Gfra1 |
T |
C |
19: 58,441,676 (GRCm39) |
Y85C |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,163,671 (GRCm39) |
Y43F |
probably benign |
Het |
| Gpld1 |
T |
A |
13: 25,163,675 (GRCm39) |
Y44* |
probably null |
Het |
| Grid2 |
A |
G |
6: 63,885,972 (GRCm39) |
T123A |
probably benign |
Het |
| Grina |
T |
C |
15: 76,133,442 (GRCm39) |
L305P |
probably damaging |
Het |
| Gucy1a1 |
G |
A |
3: 82,002,102 (GRCm39) |
A659V |
probably benign |
Het |
| H2-T10 |
T |
A |
17: 36,429,837 (GRCm39) |
K319* |
probably null |
Het |
| Hey2 |
A |
T |
10: 30,710,300 (GRCm39) |
V151E |
probably benign |
Het |
| Ighv1-69 |
G |
A |
12: 115,587,178 (GRCm39) |
T13I |
probably benign |
Het |
| Il1rap |
C |
A |
16: 26,541,532 (GRCm39) |
A591E |
probably benign |
Het |
| Ildr1 |
T |
C |
16: 36,542,383 (GRCm39) |
L261P |
probably benign |
Het |
| Jak1 |
A |
G |
4: 101,031,354 (GRCm39) |
Y463H |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,159,285 (GRCm39) |
I1666V |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,361,028 (GRCm39) |
T592S |
probably benign |
Het |
| Lrrc36 |
A |
G |
8: 106,178,776 (GRCm39) |
T445A |
possibly damaging |
Het |
| Ly9 |
G |
A |
1: 171,434,806 (GRCm39) |
S29F |
probably damaging |
Het |
| Mapk7 |
A |
C |
11: 61,381,669 (GRCm39) |
C32W |
probably damaging |
Het |
| Marchf10 |
C |
T |
11: 105,255,302 (GRCm39) |
|
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,385,031 (GRCm39) |
M119K |
probably damaging |
Het |
| Mpv17 |
A |
T |
5: 31,303,326 (GRCm39) |
C59* |
probably null |
Het |
| Mrpl27 |
G |
A |
11: 94,544,659 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
G |
A |
5: 113,022,340 (GRCm39) |
Q351* |
probably null |
Het |
| Myo1a |
A |
G |
10: 127,551,557 (GRCm39) |
I704M |
probably damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,360,650 (GRCm39) |
C373R |
probably damaging |
Het |
| Nckipsd |
C |
A |
9: 108,691,938 (GRCm39) |
A513E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,110,221 (GRCm39) |
D209G |
probably damaging |
Het |
| Nkapl |
T |
A |
13: 21,652,457 (GRCm39) |
Q52L |
unknown |
Het |
| Nptx2 |
G |
A |
5: 144,483,250 (GRCm39) |
S126N |
probably benign |
Het |
| Or2a7 |
G |
A |
6: 43,150,977 (GRCm39) |
S19N |
probably benign |
Het |
| Or52d3 |
T |
A |
7: 104,229,268 (GRCm39) |
Y138* |
probably null |
Het |
| Or7g17 |
A |
T |
9: 18,768,476 (GRCm39) |
H185L |
probably benign |
Het |
| Or8b52 |
A |
G |
9: 38,577,128 (GRCm39) |
V4A |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,764,362 (GRCm39) |
R4278S |
unknown |
Het |
| Pcnx1 |
T |
G |
12: 81,997,068 (GRCm39) |
L988R |
probably damaging |
Het |
| Prl2c5 |
C |
A |
13: 13,363,970 (GRCm39) |
N75K |
probably benign |
Het |
| Prpf19 |
T |
G |
19: 10,875,154 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,759,533 (GRCm39) |
S997P |
probably damaging |
Het |
| Rangap1 |
T |
C |
15: 81,597,118 (GRCm39) |
T226A |
probably benign |
Het |
| Rimklb |
G |
A |
6: 122,433,365 (GRCm39) |
L262F |
probably damaging |
Het |
| Rnf169 |
A |
G |
7: 99,574,930 (GRCm39) |
M555T |
probably benign |
Het |
| Rp1l1 |
A |
T |
14: 64,267,519 (GRCm39) |
D1035V |
probably benign |
Het |
| Rps23rg1 |
A |
T |
8: 3,633,922 (GRCm39) |
S8C |
probably damaging |
Het |
| Scd2 |
T |
A |
19: 44,289,791 (GRCm39) |
L262Q |
probably damaging |
Het |
| Scgb2b12 |
T |
A |
7: 32,024,956 (GRCm39) |
M84L |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Sipa1l1 |
G |
A |
12: 82,419,160 (GRCm39) |
V613I |
possibly damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,794 (GRCm39) |
D67V |
possibly damaging |
Het |
| Slc25a39 |
C |
T |
11: 102,297,492 (GRCm39) |
|
probably benign |
Het |
| Slc4a10 |
T |
A |
2: 62,127,332 (GRCm39) |
F895Y |
probably damaging |
Het |
| Slc5a4a |
A |
C |
10: 76,022,398 (GRCm39) |
K578Q |
probably benign |
Het |
| Slc6a13 |
G |
A |
6: 121,302,008 (GRCm39) |
G197S |
probably damaging |
Het |
| Smarca2 |
A |
T |
19: 26,631,883 (GRCm39) |
E566V |
possibly damaging |
Het |
| Sorbs3 |
A |
T |
14: 70,421,548 (GRCm39) |
N594K |
probably benign |
Het |
| Spata22 |
A |
T |
11: 73,236,582 (GRCm39) |
D296V |
probably damaging |
Het |
| Sphk2 |
G |
A |
7: 45,363,058 (GRCm39) |
A11V |
possibly damaging |
Het |
| Spp1 |
A |
T |
5: 104,583,081 (GRCm39) |
|
probably benign |
Het |
| Strn3 |
T |
A |
12: 51,656,999 (GRCm39) |
I760L |
possibly damaging |
Het |
| Syk |
A |
T |
13: 52,796,022 (GRCm39) |
Y539F |
probably benign |
Het |
| Tdpoz9-ps1 |
T |
C |
3: 93,846,093 (GRCm39) |
|
probably null |
Het |
| Thsd7b |
T |
A |
1: 130,138,001 (GRCm39) |
Y1560N |
probably benign |
Het |
| Tmod2 |
C |
A |
9: 75,504,494 (GRCm39) |
E42* |
probably null |
Het |
| Tom1l1 |
T |
C |
11: 90,575,942 (GRCm39) |
E30G |
probably damaging |
Het |
| Trav10 |
G |
A |
14: 53,743,518 (GRCm39) |
A40T |
probably benign |
Het |
| Trav14-2 |
G |
A |
14: 53,878,237 (GRCm39) |
|
probably benign |
Het |
| Tril |
T |
A |
6: 53,795,449 (GRCm39) |
E591V |
probably damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,059,087 (GRCm39) |
R179* |
probably null |
Het |
| Tspoap1 |
A |
T |
11: 87,662,489 (GRCm39) |
D562V |
possibly damaging |
Het |
| Usp44 |
A |
T |
10: 93,682,768 (GRCm39) |
H406L |
probably damaging |
Het |
| Vangl1 |
A |
G |
3: 102,065,608 (GRCm39) |
I509T |
probably benign |
Het |
| Vax2 |
T |
G |
6: 83,688,379 (GRCm39) |
L34W |
probably damaging |
Het |
| Vmn1r55 |
A |
T |
7: 5,150,025 (GRCm39) |
C133S |
probably damaging |
Het |
| Vmn2r8 |
T |
A |
5: 108,949,566 (GRCm39) |
D427V |
probably benign |
Het |
| Vwde |
A |
G |
6: 13,205,851 (GRCm39) |
I232T |
possibly damaging |
Het |
| Wnk1 |
C |
A |
6: 119,940,431 (GRCm39) |
A769S |
probably damaging |
Het |
| Xpo4 |
A |
C |
14: 57,855,638 (GRCm39) |
S264A |
probably benign |
Het |
| Zfp330 |
A |
T |
8: 83,496,015 (GRCm39) |
C75* |
probably null |
Het |
| Zfp526 |
T |
A |
7: 24,925,064 (GRCm39) |
L441Q |
probably benign |
Het |
| Zfp607b |
T |
G |
7: 27,402,930 (GRCm39) |
L462R |
probably damaging |
Het |
| Zfp719 |
T |
A |
7: 43,240,217 (GRCm39) |
F602I |
probably damaging |
Het |
|
| Other mutations in Brca2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Brca2
|
APN |
5 |
150,463,363 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL00392:Brca2
|
APN |
5 |
150,464,705 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00557:Brca2
|
APN |
5 |
150,484,003 (GRCm39) |
missense |
probably benign |
|
|
IGL00798:Brca2
|
APN |
5 |
150,462,928 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL00933:Brca2
|
APN |
5 |
150,465,869 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00964:Brca2
|
APN |
5 |
150,455,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01152:Brca2
|
APN |
5 |
150,465,855 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01577:Brca2
|
APN |
5 |
150,465,085 (GRCm39) |
nonsense |
probably null |
|
|
IGL01585:Brca2
|
APN |
5 |
150,462,981 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01732:Brca2
|
APN |
5 |
150,465,852 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01809:Brca2
|
APN |
5 |
150,454,526 (GRCm39) |
splice site |
probably null |
|
|
IGL01911:Brca2
|
APN |
5 |
150,491,078 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02113:Brca2
|
APN |
5 |
150,464,444 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02313:Brca2
|
APN |
5 |
150,462,126 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02342:Brca2
|
APN |
5 |
150,466,289 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02508:Brca2
|
APN |
5 |
150,466,773 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02532:Brca2
|
APN |
5 |
150,474,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02646:Brca2
|
APN |
5 |
150,484,255 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02738:Brca2
|
APN |
5 |
150,490,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02833:Brca2
|
APN |
5 |
150,465,255 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02871:Brca2
|
APN |
5 |
150,466,017 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02995:Brca2
|
APN |
5 |
150,452,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03105:Brca2
|
APN |
5 |
150,483,950 (GRCm39) |
missense |
probably benign |
0.02 |
|
BB007:Brca2
|
UTSW |
5 |
150,481,975 (GRCm39) |
missense |
probably damaging |
0.96 |
|
BB017:Brca2
|
UTSW |
5 |
150,481,975 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0219:Brca2
|
UTSW |
5 |
150,446,640 (GRCm39) |
splice site |
probably benign |
|
|
R0416:Brca2
|
UTSW |
5 |
150,492,857 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0441:Brca2
|
UTSW |
5 |
150,465,322 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0548:Brca2
|
UTSW |
5 |
150,468,400 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0745:Brca2
|
UTSW |
5 |
150,468,347 (GRCm39) |
splice site |
probably benign |
|
|
R0799:Brca2
|
UTSW |
5 |
150,483,658 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1165:Brca2
|
UTSW |
5 |
150,466,212 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1247:Brca2
|
UTSW |
5 |
150,464,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1403:Brca2
|
UTSW |
5 |
150,466,114 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1403:Brca2
|
UTSW |
5 |
150,466,114 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1444:Brca2
|
UTSW |
5 |
150,465,915 (GRCm39) |
missense |
probably benign |
|
|
R1466:Brca2
|
UTSW |
5 |
150,475,723 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1466:Brca2
|
UTSW |
5 |
150,475,723 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1584:Brca2
|
UTSW |
5 |
150,475,723 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1599:Brca2
|
UTSW |
5 |
150,472,178 (GRCm39) |
nonsense |
probably null |
|
|
R1600:Brca2
|
UTSW |
5 |
150,484,295 (GRCm39) |
splice site |
probably benign |
|
|
R1822:Brca2
|
UTSW |
5 |
150,463,663 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1824:Brca2
|
UTSW |
5 |
150,460,387 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2037:Brca2
|
UTSW |
5 |
150,464,134 (GRCm39) |
missense |
probably benign |
|
|
R2131:Brca2
|
UTSW |
5 |
150,480,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2203:Brca2
|
UTSW |
5 |
150,462,967 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2208:Brca2
|
UTSW |
5 |
150,455,809 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2293:Brca2
|
UTSW |
5 |
150,483,999 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2517:Brca2
|
UTSW |
5 |
150,463,137 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2566:Brca2
|
UTSW |
5 |
150,465,227 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3422:Brca2
|
UTSW |
5 |
150,466,586 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R3917:Brca2
|
UTSW |
5 |
150,464,292 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3946:Brca2
|
UTSW |
5 |
150,460,169 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4176:Brca2
|
UTSW |
5 |
150,463,098 (GRCm39) |
nonsense |
probably null |
|
|
R4255:Brca2
|
UTSW |
5 |
150,464,634 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4450:Brca2
|
UTSW |
5 |
150,459,518 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4603:Brca2
|
UTSW |
5 |
150,459,630 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4681:Brca2
|
UTSW |
5 |
150,475,863 (GRCm39) |
splice site |
probably null |
|
|
R4762:Brca2
|
UTSW |
5 |
150,454,581 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4824:Brca2
|
UTSW |
5 |
150,463,200 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4887:Brca2
|
UTSW |
5 |
150,480,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5020:Brca2
|
UTSW |
5 |
150,483,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5159:Brca2
|
UTSW |
5 |
150,465,573 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5216:Brca2
|
UTSW |
5 |
150,466,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5269:Brca2
|
UTSW |
5 |
150,462,688 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5274:Brca2
|
UTSW |
5 |
150,463,154 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5589:Brca2
|
UTSW |
5 |
150,480,597 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5619:Brca2
|
UTSW |
5 |
150,480,579 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5641:Brca2
|
UTSW |
5 |
150,480,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5686:Brca2
|
UTSW |
5 |
150,464,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5730:Brca2
|
UTSW |
5 |
150,492,470 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5763:Brca2
|
UTSW |
5 |
150,471,471 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5877:Brca2
|
UTSW |
5 |
150,466,686 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5893:Brca2
|
UTSW |
5 |
150,492,603 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5900:Brca2
|
UTSW |
5 |
150,464,597 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5926:Brca2
|
UTSW |
5 |
150,458,087 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5966:Brca2
|
UTSW |
5 |
150,466,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6025:Brca2
|
UTSW |
5 |
150,465,040 (GRCm39) |
frame shift |
probably null |
|
|
R6062:Brca2
|
UTSW |
5 |
150,480,354 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6141:Brca2
|
UTSW |
5 |
150,464,102 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6244:Brca2
|
UTSW |
5 |
150,490,443 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6508:Brca2
|
UTSW |
5 |
150,460,058 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6519:Brca2
|
UTSW |
5 |
150,464,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6611:Brca2
|
UTSW |
5 |
150,459,658 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6698:Brca2
|
UTSW |
5 |
150,455,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6856:Brca2
|
UTSW |
5 |
150,463,673 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6912:Brca2
|
UTSW |
5 |
150,465,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7002:Brca2
|
UTSW |
5 |
150,463,383 (GRCm39) |
missense |
probably benign |
|
|
R7025:Brca2
|
UTSW |
5 |
150,463,943 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7151:Brca2
|
UTSW |
5 |
150,464,901 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7202:Brca2
|
UTSW |
5 |
150,455,819 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7365:Brca2
|
UTSW |
5 |
150,455,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7510:Brca2
|
UTSW |
5 |
150,460,156 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7612:Brca2
|
UTSW |
5 |
150,464,076 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7682:Brca2
|
UTSW |
5 |
150,466,618 (GRCm39) |
missense |
probably benign |
|
|
R7890:Brca2
|
UTSW |
5 |
150,462,846 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7930:Brca2
|
UTSW |
5 |
150,481,975 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7940:Brca2
|
UTSW |
5 |
150,462,198 (GRCm39) |
missense |
probably benign |
|
|
R8054:Brca2
|
UTSW |
5 |
150,459,969 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8056:Brca2
|
UTSW |
5 |
150,492,771 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8080:Brca2
|
UTSW |
5 |
150,463,357 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8094:Brca2
|
UTSW |
5 |
150,459,634 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8306:Brca2
|
UTSW |
5 |
150,460,128 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8401:Brca2
|
UTSW |
5 |
150,475,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8523:Brca2
|
UTSW |
5 |
150,483,613 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8784:Brca2
|
UTSW |
5 |
150,472,126 (GRCm39) |
nonsense |
probably null |
|
|
R8791:Brca2
|
UTSW |
5 |
150,466,061 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8832:Brca2
|
UTSW |
5 |
150,465,611 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8838:Brca2
|
UTSW |
5 |
150,465,005 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8845:Brca2
|
UTSW |
5 |
150,466,847 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8898:Brca2
|
UTSW |
5 |
150,492,498 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8914:Brca2
|
UTSW |
5 |
150,465,208 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8935:Brca2
|
UTSW |
5 |
150,492,446 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9014:Brca2
|
UTSW |
5 |
150,465,219 (GRCm39) |
missense |
probably benign |
|
|
R9023:Brca2
|
UTSW |
5 |
150,465,360 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9094:Brca2
|
UTSW |
5 |
150,475,770 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9195:Brca2
|
UTSW |
5 |
150,463,418 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9198:Brca2
|
UTSW |
5 |
150,459,977 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9314:Brca2
|
UTSW |
5 |
150,474,359 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9408:Brca2
|
UTSW |
5 |
150,464,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9459:Brca2
|
UTSW |
5 |
150,464,094 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9512:Brca2
|
UTSW |
5 |
150,454,546 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9622:Brca2
|
UTSW |
5 |
150,480,410 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9777:Brca2
|
UTSW |
5 |
150,480,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Brca2
|
UTSW |
5 |
150,466,228 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1186:Brca2
|
UTSW |
5 |
150,460,048 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCATTTGAAATGTACATGTGCTG -3'
(R):5'- GCTTCCACACAGTTGTAACATCC -3'
Sequencing Primer
(F):5'- AGTCAAGGTTTGGCTTAGCCC -3'
(R):5'- GTTGTAACATCCCTTGATAAACCC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation