Incidental Mutation 'R5255:Abr'
ID |
399505 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abr
|
Ensembl Gene |
ENSMUSG00000017631 |
Gene Name |
active BCR-related gene |
Synonyms |
6330400K15Rik |
MMRRC Submission |
042826-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.735)
|
Stock # |
R5255 (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 A
at 76346509 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 434
(E434V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104045
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065028]
[ENSMUST00000072740]
[ENSMUST00000094012]
[ENSMUST00000108407]
[ENSMUST00000108408]
|
AlphaFold |
Q5SSL4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065028
AA Change: E253V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000068982 Gene: ENSMUSG00000017631 AA Change: E253V
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: E471V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000072522 Gene: ENSMUSG00000017631 AA Change: E471V
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 |
probably damaging
Transcript: ENSMUST00000094012
AA Change: E483V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091551 Gene: ENSMUSG00000017631 AA Change: E483V
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: E425V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104044 Gene: ENSMUSG00000017631 AA Change: E425V
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: E434V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104045 Gene: ENSMUSG00000017631 AA Change: E434V
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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
A |
T |
17: 36,270,629 (GRCm39) |
|
probably null |
Het |
Acaca |
T |
A |
11: 84,202,133 (GRCm39) |
L197Q |
probably damaging |
Het |
Acot10 |
A |
G |
15: 20,666,018 (GRCm39) |
I241T |
probably benign |
Het |
Acp6 |
T |
C |
3: 97,075,312 (GRCm39) |
V182A |
probably benign |
Het |
Ahnak2 |
G |
A |
12: 112,739,812 (GRCm39) |
T1420I |
possibly damaging |
Het |
Akr1c6 |
A |
T |
13: 4,497,018 (GRCm39) |
K153N |
probably benign |
Het |
Ank3 |
T |
C |
10: 69,721,030 (GRCm39) |
L600P |
probably damaging |
Het |
Arhgef1 |
G |
A |
7: 24,624,447 (GRCm39) |
A824T |
probably damaging |
Het |
B230307C23Rik |
T |
A |
16: 97,809,891 (GRCm39) |
N22K |
possibly damaging |
Het |
Btn1a1 |
A |
G |
13: 23,648,324 (GRCm39) |
|
probably benign |
Het |
Cenpf |
G |
A |
1: 189,404,824 (GRCm39) |
T352I |
possibly damaging |
Het |
Ces4a |
C |
A |
8: 105,869,121 (GRCm39) |
F185L |
probably benign |
Het |
Clybl |
A |
C |
14: 122,621,691 (GRCm39) |
E293A |
probably benign |
Het |
Cobl |
A |
G |
11: 12,325,825 (GRCm39) |
W217R |
probably damaging |
Het |
D430041D05Rik |
T |
C |
2: 104,086,945 (GRCm39) |
N677S |
probably benign |
Het |
Ddx51 |
C |
A |
5: 110,803,908 (GRCm39) |
T390N |
possibly damaging |
Het |
Drd5 |
T |
G |
5: 38,477,310 (GRCm39) |
V101G |
probably damaging |
Het |
Elmo3 |
C |
T |
8: 106,033,985 (GRCm39) |
P244L |
probably benign |
Het |
Esrrg |
G |
A |
1: 187,878,555 (GRCm39) |
R189H |
probably damaging |
Het |
Fxr2 |
A |
G |
11: 69,534,667 (GRCm39) |
T183A |
probably benign |
Het |
Gjd4 |
T |
C |
18: 9,280,613 (GRCm39) |
H155R |
probably benign |
Het |
Hivep2 |
T |
A |
10: 14,007,011 (GRCm39) |
|
probably null |
Het |
Ints10 |
T |
C |
8: 69,246,624 (GRCm39) |
|
probably benign |
Het |
Kank4 |
T |
C |
4: 98,667,209 (GRCm39) |
T413A |
probably benign |
Het |
Mapkbp1 |
T |
C |
2: 119,847,735 (GRCm39) |
V568A |
probably damaging |
Het |
Mobp |
A |
G |
9: 119,997,419 (GRCm39) |
|
probably benign |
Het |
Mpst |
A |
G |
15: 78,294,708 (GRCm39) |
S147G |
probably benign |
Het |
Myo5b |
A |
T |
18: 74,795,741 (GRCm39) |
Y559F |
possibly damaging |
Het |
Nceh1 |
T |
C |
3: 27,237,288 (GRCm39) |
I21T |
probably damaging |
Het |
Or4f7 |
T |
C |
2: 111,644,523 (GRCm39) |
K183E |
probably benign |
Het |
Phf8-ps |
A |
T |
17: 33,285,739 (GRCm39) |
C354* |
probably null |
Het |
Ralgps1 |
A |
T |
2: 33,166,171 (GRCm39) |
V126E |
probably damaging |
Het |
Rnls |
A |
G |
19: 33,359,823 (GRCm39) |
V115A |
probably damaging |
Het |
Scn1a |
A |
T |
2: 66,108,013 (GRCm39) |
V1554D |
probably damaging |
Het |
Slc16a11 |
T |
A |
11: 70,106,258 (GRCm39) |
D165E |
probably damaging |
Het |
Slc16a5 |
A |
G |
11: 115,353,501 (GRCm39) |
T23A |
probably benign |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Slc3a1 |
A |
T |
17: 85,335,881 (GRCm39) |
|
probably null |
Het |
Slitrk6 |
A |
T |
14: 110,987,185 (GRCm39) |
*841K |
probably null |
Het |
Syngr1 |
A |
G |
15: 79,975,647 (GRCm39) |
Y18C |
possibly damaging |
Het |
Tarbp1 |
T |
G |
8: 127,155,709 (GRCm39) |
D1343A |
probably benign |
Het |
Vac14 |
T |
A |
8: 111,360,961 (GRCm39) |
I177N |
probably damaging |
Het |
Vmn1r218 |
A |
T |
13: 23,320,881 (GRCm39) |
D76V |
possibly damaging |
Het |
Wdr75 |
T |
A |
1: 45,838,277 (GRCm39) |
I62N |
probably damaging |
Het |
Zfp12 |
A |
T |
5: 143,226,134 (GRCm39) |
I68L |
probably null |
Het |
Zswim8 |
T |
A |
14: 20,771,719 (GRCm39) |
Y1551N |
probably damaging |
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 |
R0771:Abr
|
UTSW |
11 |
76,346,509 (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 |
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'- CAGTTTCAGCCACATTGGGC -3'
(R):5'- CACAGCTGTGCTCATGTGAATAC -3'
Sequencing Primer
(F):5'- CCACATTGGGCAGTGAGATC -3'
(R):5'- TGCTCATGTGAATACCTGCAGGAC -3'
|
Posted On |
2016-07-06 |