Incidental Mutation 'R3928:Abr'
ID |
308381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abr
|
Ensembl Gene |
ENSMUSG00000017631 |
Gene Name |
active BCR-related gene |
Synonyms |
6330400K15Rik |
MMRRC Submission |
040823-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.747)
|
Stock # |
R3928 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
76307560-76468515 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 76359561 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 181
(H181Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104044
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065028]
[ENSMUST00000072740]
[ENSMUST00000094012]
[ENSMUST00000108407]
[ENSMUST00000108408]
[ENSMUST00000151526]
|
AlphaFold |
Q5SSL4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065028
|
SMART Domains |
Protein: ENSMUSP00000068982 Gene: ENSMUSG00000017631
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 benign
Transcript: ENSMUST00000072740
AA Change: H227Q
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000072522 Gene: ENSMUSG00000017631 AA Change: H227Q
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 benign
Transcript: ENSMUST00000094012
AA Change: H239Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000091551 Gene: ENSMUSG00000017631 AA Change: H239Q
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 benign
Transcript: ENSMUST00000108407
AA Change: H181Q
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000104044 Gene: ENSMUSG00000017631 AA Change: H181Q
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 benign
Transcript: ENSMUST00000108408
AA Change: H190Q
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000104045 Gene: ENSMUSG00000017631 AA Change: H190Q
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151526
AA Change: H137Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000135544 Gene: ENSMUSG00000017631 AA Change: H137Q
Domain | Start | End | E-Value | Type |
RhoGEF
|
5 |
161 |
3.85e-24 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
100% (48/48) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atrx |
T |
C |
X: 104,923,523 (GRCm39) |
I157V |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,918,170 (GRCm39) |
D1856G |
possibly damaging |
Het |
Birc6 |
A |
G |
17: 74,945,404 (GRCm39) |
T2811A |
probably damaging |
Het |
Brsk2 |
T |
C |
7: 141,552,155 (GRCm39) |
F108S |
probably damaging |
Het |
Clasp2 |
C |
A |
9: 113,735,173 (GRCm39) |
H1004N |
probably benign |
Het |
Cntd1 |
G |
A |
11: 101,178,345 (GRCm39) |
V315I |
probably benign |
Het |
Col13a1 |
A |
G |
10: 61,703,304 (GRCm39) |
|
probably benign |
Het |
Ctps1 |
T |
A |
4: 120,399,093 (GRCm39) |
H553L |
probably benign |
Het |
Dpysl2 |
A |
G |
14: 67,061,880 (GRCm39) |
I242T |
possibly damaging |
Het |
Exoc3l |
C |
T |
8: 106,017,549 (GRCm39) |
|
probably benign |
Het |
Fam229a |
A |
G |
4: 129,385,204 (GRCm39) |
|
probably benign |
Het |
Fshr |
C |
T |
17: 89,292,962 (GRCm39) |
R572H |
probably damaging |
Het |
Gm5501 |
A |
G |
18: 9,917,267 (GRCm39) |
|
noncoding transcript |
Het |
Gmpr |
A |
G |
13: 45,683,223 (GRCm39) |
I165V |
probably benign |
Het |
Gnat3 |
G |
A |
5: 18,208,892 (GRCm39) |
|
probably benign |
Het |
H1f8 |
A |
G |
6: 115,925,757 (GRCm39) |
K185E |
probably benign |
Het |
H2-Q4 |
T |
G |
17: 35,598,666 (GRCm39) |
L16R |
unknown |
Het |
Hs2st1 |
T |
C |
3: 144,140,389 (GRCm39) |
K311E |
possibly damaging |
Het |
Kcnj15 |
A |
G |
16: 95,097,368 (GRCm39) |
E330G |
possibly damaging |
Het |
Kif3a |
A |
G |
11: 53,461,441 (GRCm39) |
K29E |
probably benign |
Het |
Krtap4-1 |
A |
G |
11: 99,518,983 (GRCm39) |
V9A |
unknown |
Het |
Lmntd2 |
C |
T |
7: 140,791,117 (GRCm39) |
G432S |
probably damaging |
Het |
Me3 |
T |
C |
7: 89,482,898 (GRCm39) |
|
probably benign |
Het |
Myo1d |
G |
T |
11: 80,375,087 (GRCm39) |
R996S |
probably benign |
Het |
Myo9a |
T |
A |
9: 59,802,566 (GRCm39) |
W2018R |
probably damaging |
Het |
Nphp3 |
G |
T |
9: 103,888,929 (GRCm39) |
V265F |
probably damaging |
Het |
Or10ak9 |
T |
C |
4: 118,726,179 (GRCm39) |
L66P |
probably damaging |
Het |
Or5p67 |
A |
G |
7: 107,922,232 (GRCm39) |
I217T |
probably benign |
Het |
Or8c16 |
T |
C |
9: 38,130,131 (GRCm39) |
M1T |
probably null |
Het |
Pgp |
A |
G |
17: 24,690,315 (GRCm39) |
E247G |
probably damaging |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Plch1 |
G |
A |
3: 63,675,044 (GRCm39) |
A202V |
probably damaging |
Het |
Rbm11 |
G |
A |
16: 75,389,932 (GRCm39) |
|
probably null |
Het |
Scg5 |
T |
C |
2: 113,622,230 (GRCm39) |
K124R |
probably damaging |
Het |
Serpina3j |
A |
T |
12: 104,285,916 (GRCm39) |
H357L |
probably damaging |
Het |
St6gal2 |
A |
G |
17: 55,803,324 (GRCm39) |
D353G |
possibly damaging |
Het |
Tdpoz3 |
T |
C |
3: 93,734,216 (GRCm39) |
I297T |
possibly damaging |
Het |
Tdrd5 |
G |
A |
1: 156,128,348 (GRCm39) |
T136I |
probably benign |
Het |
Tfcp2l1 |
T |
A |
1: 118,597,206 (GRCm39) |
I429K |
possibly damaging |
Het |
Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
Top1 |
T |
C |
2: 160,529,669 (GRCm39) |
|
probably benign |
Het |
Trim61 |
A |
G |
8: 65,465,969 (GRCm39) |
F431L |
probably benign |
Het |
Trmo |
C |
T |
4: 46,382,647 (GRCm39) |
G150S |
probably damaging |
Het |
Vmn1r183 |
T |
C |
7: 23,754,997 (GRCm39) |
S267P |
probably damaging |
Het |
Xirp2 |
T |
A |
2: 67,342,013 (GRCm39) |
F1418Y |
possibly damaging |
Het |
Zfp114 |
T |
C |
7: 23,880,467 (GRCm39) |
V271A |
possibly damaging |
Het |
Zfp710 |
A |
G |
7: 79,731,134 (GRCm39) |
R104G |
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 |
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'- AAAGCTTGCTGGCATCCTAAGG -3'
(R):5'- CAATCAGTCCTGACTCTGGTTC -3'
Sequencing Primer
(F):5'- AGCACGTTTGTAGCTGGCC -3'
(R):5'- CTGGTTCTCAGAGTCTGCC -3'
|
Posted On |
2015-04-17 |