Incidental Mutation 'R0771:Abr'
ID |
76961 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abr
|
Ensembl Gene |
ENSMUSG00000017631 |
Gene Name |
active BCR-related gene |
Synonyms |
6330400K15Rik |
MMRRC Submission |
038951-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.735)
|
Stock # |
R0771 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
76307560-76468515 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76346509 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 434
(E434G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104045
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065028]
[ENSMUST00000072740]
[ENSMUST00000094012]
[ENSMUST00000108407]
[ENSMUST00000108408]
|
AlphaFold |
Q5SSL4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000065028
AA Change: E253G
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000068982 Gene: ENSMUSG00000017631 AA Change: E253G
Domain | Start | End | E-Value | Type |
Pfam:RhoGEF
|
12 |
65 |
5.4e-11 |
PFAM |
PH
|
84 |
243 |
1.58e-11 |
SMART |
C2
|
287 |
394 |
1.88e-11 |
SMART |
RhoGAP
|
440 |
619 |
6.57e-67 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072740
AA Change: E471G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000072522 Gene: ENSMUSG00000017631 AA Change: E471G
Domain | Start | End | E-Value | Type |
RhoGEF
|
95 |
283 |
2.37e-56 |
SMART |
PH
|
302 |
461 |
1.58e-11 |
SMART |
C2
|
505 |
612 |
1.88e-11 |
SMART |
RhoGAP
|
658 |
837 |
6.57e-67 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094012
AA Change: E483G
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000091551 Gene: ENSMUSG00000017631 AA Change: E483G
Domain | Start | End | E-Value | Type |
RhoGEF
|
107 |
295 |
2.37e-56 |
SMART |
PH
|
314 |
473 |
1.58e-11 |
SMART |
C2
|
517 |
624 |
1.88e-11 |
SMART |
RhoGAP
|
670 |
849 |
6.57e-67 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108407
AA Change: E425G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104044 Gene: ENSMUSG00000017631 AA Change: E425G
Domain | Start | End | E-Value | Type |
RhoGEF
|
49 |
237 |
2.37e-56 |
SMART |
PH
|
256 |
415 |
1.58e-11 |
SMART |
C2
|
459 |
566 |
1.88e-11 |
SMART |
RhoGAP
|
612 |
791 |
6.57e-67 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108408
AA Change: E434G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104045 Gene: ENSMUSG00000017631 AA Change: E434G
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
28 |
N/A |
INTRINSIC |
RhoGEF
|
58 |
246 |
2.37e-56 |
SMART |
PH
|
265 |
424 |
1.58e-11 |
SMART |
C2
|
468 |
575 |
1.88e-11 |
SMART |
RhoGAP
|
621 |
800 |
6.57e-67 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130364
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141442
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012] PHENOTYPE: Homozygous null mutants are apparently normal, but double knockouts with Bcr show increased postnatal mortality, ataxia, hyperactivity, circling, lack of vestibular otoconia, ectopic cerebellar granule cells, and foliation defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam19 |
G |
A |
11: 46,012,280 (GRCm39) |
V259I |
possibly damaging |
Het |
Adam5 |
A |
G |
8: 25,276,315 (GRCm39) |
S451P |
probably benign |
Het |
Chd6 |
G |
A |
2: 160,861,500 (GRCm39) |
L516F |
probably damaging |
Het |
Elovl4 |
A |
G |
9: 83,667,168 (GRCm39) |
V154A |
possibly damaging |
Het |
Gadl1 |
G |
A |
9: 115,773,300 (GRCm39) |
R114Q |
probably damaging |
Het |
Ipo13 |
T |
C |
4: 117,751,843 (GRCm39) |
N936S |
possibly damaging |
Het |
Kcnd2 |
T |
A |
6: 21,216,441 (GRCm39) |
S48R |
probably damaging |
Het |
Lgalsl2 |
A |
G |
7: 5,362,822 (GRCm39) |
D151G |
probably damaging |
Het |
Lim2 |
C |
A |
7: 43,080,127 (GRCm39) |
A38E |
possibly damaging |
Het |
Lrp2 |
A |
T |
2: 69,338,334 (GRCm39) |
D1177E |
probably damaging |
Het |
Mdh1 |
C |
T |
11: 21,507,550 (GRCm39) |
V300I |
probably benign |
Het |
Mfsd4b4 |
T |
C |
10: 39,768,407 (GRCm39) |
T275A |
probably benign |
Het |
Myo10 |
A |
G |
15: 25,778,264 (GRCm39) |
Y114C |
probably damaging |
Het |
Ncapg2 |
T |
A |
12: 116,376,779 (GRCm39) |
C122* |
probably null |
Het |
Nod1 |
T |
G |
6: 54,921,254 (GRCm39) |
S355R |
probably damaging |
Het |
Or52x1 |
T |
A |
7: 104,853,368 (GRCm39) |
M61L |
possibly damaging |
Het |
Or5ap2 |
A |
T |
2: 85,680,338 (GRCm39) |
I181F |
possibly damaging |
Het |
Pcsk1 |
A |
T |
13: 75,280,281 (GRCm39) |
E702V |
probably benign |
Het |
Ptpn21 |
T |
C |
12: 98,655,339 (GRCm39) |
T543A |
probably damaging |
Het |
Ranbp9 |
T |
C |
13: 43,615,249 (GRCm39) |
I190V |
possibly damaging |
Het |
Sirpd |
T |
A |
3: 15,385,506 (GRCm39) |
Q132L |
probably benign |
Het |
Slc1a4 |
C |
T |
11: 20,256,467 (GRCm39) |
V455M |
probably damaging |
Het |
Srbd1 |
T |
A |
17: 86,437,682 (GRCm39) |
E220D |
probably benign |
Het |
Thsd7a |
A |
G |
6: 12,327,576 (GRCm39) |
V1432A |
probably benign |
Het |
Zfp61 |
T |
C |
7: 23,992,779 (GRCm39) |
R71G |
probably benign |
Het |
|
Other mutations in Abr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00509:Abr
|
APN |
11 |
76,313,915 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL00571:Abr
|
APN |
11 |
76,359,566 (GRCm39) |
missense |
probably benign |
0.45 |
IGL01774:Abr
|
APN |
11 |
76,355,125 (GRCm39) |
splice site |
probably benign |
|
IGL02208:Abr
|
APN |
11 |
76,346,471 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02477:Abr
|
APN |
11 |
76,352,186 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02499:Abr
|
APN |
11 |
76,399,916 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02606:Abr
|
APN |
11 |
76,369,990 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02955:Abr
|
APN |
11 |
76,309,991 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03136:Abr
|
APN |
11 |
76,316,121 (GRCm39) |
nonsense |
probably null |
|
R0051:Abr
|
UTSW |
11 |
76,363,328 (GRCm39) |
missense |
probably benign |
0.02 |
R0311:Abr
|
UTSW |
11 |
76,399,953 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0344:Abr
|
UTSW |
11 |
76,369,870 (GRCm39) |
missense |
probably damaging |
0.99 |
R0621:Abr
|
UTSW |
11 |
76,399,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R1081:Abr
|
UTSW |
11 |
76,346,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R1842:Abr
|
UTSW |
11 |
76,399,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R2036:Abr
|
UTSW |
11 |
76,343,176 (GRCm39) |
missense |
probably benign |
0.08 |
R2147:Abr
|
UTSW |
11 |
76,346,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R2250:Abr
|
UTSW |
11 |
76,342,765 (GRCm39) |
missense |
probably damaging |
1.00 |
R3153:Abr
|
UTSW |
11 |
76,377,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R3928:Abr
|
UTSW |
11 |
76,359,561 (GRCm39) |
missense |
probably benign |
0.01 |
R4507:Abr
|
UTSW |
11 |
76,342,683 (GRCm39) |
missense |
possibly damaging |
0.65 |
R4518:Abr
|
UTSW |
11 |
76,363,344 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4632:Abr
|
UTSW |
11 |
76,399,845 (GRCm39) |
missense |
probably benign |
0.10 |
R4751:Abr
|
UTSW |
11 |
76,347,434 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4853:Abr
|
UTSW |
11 |
76,355,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R5255:Abr
|
UTSW |
11 |
76,346,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R5693:Abr
|
UTSW |
11 |
76,354,403 (GRCm39) |
missense |
probably damaging |
1.00 |
R6459:Abr
|
UTSW |
11 |
76,315,815 (GRCm39) |
missense |
probably damaging |
0.98 |
R6478:Abr
|
UTSW |
11 |
76,343,158 (GRCm39) |
missense |
probably damaging |
0.99 |
R7030:Abr
|
UTSW |
11 |
76,350,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R7221:Abr
|
UTSW |
11 |
76,313,987 (GRCm39) |
missense |
probably benign |
0.09 |
R8353:Abr
|
UTSW |
11 |
76,310,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R8362:Abr
|
UTSW |
11 |
76,369,954 (GRCm39) |
missense |
probably benign |
0.00 |
R8962:Abr
|
UTSW |
11 |
76,352,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R8967:Abr
|
UTSW |
11 |
76,369,855 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9130:Abr
|
UTSW |
11 |
76,342,753 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9275:Abr
|
UTSW |
11 |
76,355,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R9492:Abr
|
UTSW |
11 |
76,399,751 (GRCm39) |
missense |
probably benign |
|
R9516:Abr
|
UTSW |
11 |
76,310,658 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AACCTGAGCCCTGGAGAGAGTATG -3'
(R):5'- TGAGGTCCAATTAAGCCACACAGTG -3'
Sequencing Primer
(F):5'- GGACAGTTTCAGCCACATTG -3'
(R):5'- CATGACAGGCTATCTATGGTCC -3'
|
Posted On |
2013-10-16 |