Incidental Mutation 'R0051:Abr'
| ID |
192639 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abr
|
| Ensembl Gene |
ENSMUSG00000017631 |
| Gene Name |
active BCR-related gene |
| Synonyms |
6330400K15Rik |
| MMRRC Submission |
038345-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.735)
|
| Stock # |
R0051 (G1)
|
| Quality Score |
39 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
76307560-76468515 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76363328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 163
(Q163L)
|
| 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: Q209L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000072522
Gene: ENSMUSG00000017631
AA Change: Q209L
| 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: Q221L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000091551
Gene: ENSMUSG00000017631
AA Change: Q221L
| 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: Q163L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000104044
Gene: ENSMUSG00000017631
AA Change: Q163L
| 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: Q172L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104045
Gene: ENSMUSG00000017631
AA Change: Q172L
| 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: Q119L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135544
Gene: ENSMUSG00000017631
AA Change: Q119L
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
5 |
161 |
3.85e-24 |
SMART |
|
| Meta Mutation Damage Score |
0.1158 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.8%
|
| Validation Efficiency |
100% (64/64) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
G |
7: 29,278,526 (GRCm39) |
|
noncoding transcript |
Het |
| Ankrd11 |
C |
A |
8: 123,616,481 (GRCm39) |
C2457F |
probably damaging |
Het |
| Anks3 |
G |
C |
16: 4,765,613 (GRCm39) |
T163S |
probably benign |
Het |
| Cacna1d |
G |
A |
14: 29,833,052 (GRCm39) |
P908S |
probably damaging |
Het |
| Ccdc146 |
C |
A |
5: 21,521,902 (GRCm39) |
R374L |
possibly damaging |
Het |
| Cdc45 |
G |
T |
16: 18,613,524 (GRCm39) |
A348E |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,255,951 (GRCm39) |
C300R |
probably damaging |
Het |
| Cimap1a |
C |
A |
7: 140,430,134 (GRCm39) |
|
probably benign |
Het |
| Coq2 |
T |
C |
5: 100,811,551 (GRCm39) |
N146S |
probably benign |
Het |
| Dalrd3 |
T |
C |
9: 108,449,414 (GRCm39) |
V120A |
possibly damaging |
Het |
| Dcp2 |
T |
A |
18: 44,538,441 (GRCm39) |
|
probably benign |
Het |
| Ddx39a |
A |
G |
8: 84,447,251 (GRCm39) |
K137R |
possibly damaging |
Het |
| Diaph3 |
A |
G |
14: 87,274,890 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
G |
T |
7: 130,721,225 (GRCm39) |
R1668L |
possibly damaging |
Het |
| Dnah7a |
T |
G |
1: 53,560,245 (GRCm39) |
|
probably benign |
Het |
| Dpp7 |
A |
G |
2: 25,246,107 (GRCm39) |
Y49H |
possibly damaging |
Het |
| Drd5 |
A |
G |
5: 38,477,957 (GRCm39) |
S317G |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,832,729 (GRCm39) |
L877S |
probably damaging |
Het |
| Ecsit |
C |
T |
9: 21,987,584 (GRCm39) |
V152I |
probably benign |
Het |
| Eeig1 |
G |
A |
2: 32,448,065 (GRCm39) |
R58Q |
possibly damaging |
Het |
| Emc1 |
T |
A |
4: 139,102,474 (GRCm39) |
M923K |
possibly damaging |
Het |
| Fcrl6 |
A |
T |
1: 172,426,320 (GRCm39) |
L159Q |
probably benign |
Het |
| Frrs1 |
T |
C |
3: 116,678,946 (GRCm39) |
|
probably benign |
Het |
| Hspd1 |
A |
G |
1: 55,121,205 (GRCm39) |
|
probably benign |
Het |
| Impg2 |
T |
A |
16: 56,078,411 (GRCm39) |
S458T |
probably damaging |
Het |
| Klf17 |
T |
C |
4: 117,617,589 (GRCm39) |
Y256C |
probably damaging |
Het |
| Lnx2 |
A |
G |
5: 146,966,163 (GRCm39) |
F319L |
probably damaging |
Het |
| Mafg |
G |
T |
11: 120,520,430 (GRCm39) |
R57S |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,880,720 (GRCm39) |
W1271R |
probably damaging |
Het |
| Mrgprb1 |
A |
G |
7: 48,096,962 (GRCm39) |
S24P |
probably benign |
Het |
| Mtrf1l |
T |
C |
10: 5,763,384 (GRCm39) |
E315G |
probably damaging |
Het |
| Naip1 |
T |
C |
13: 100,547,509 (GRCm39) |
E1239G |
probably damaging |
Het |
| Ncaph2 |
T |
C |
15: 89,253,867 (GRCm39) |
S320P |
probably damaging |
Het |
| Nek11 |
A |
G |
9: 105,095,738 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
A |
T |
7: 5,325,333 (GRCm39) |
|
probably benign |
Het |
| Rbm26 |
A |
C |
14: 105,389,976 (GRCm39) |
V216G |
possibly damaging |
Het |
| Rnf115 |
A |
G |
3: 96,692,338 (GRCm39) |
D178G |
probably damaging |
Het |
| Rtel1 |
C |
T |
2: 180,992,449 (GRCm39) |
Q424* |
probably null |
Het |
| Rwdd4a |
A |
G |
8: 47,990,400 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,699,420 (GRCm39) |
D890G |
probably damaging |
Het |
| Scarb1 |
C |
A |
5: 125,358,164 (GRCm39) |
|
probably null |
Het |
| Serpina10 |
A |
G |
12: 103,593,156 (GRCm39) |
|
probably benign |
Het |
| Slc12a5 |
T |
A |
2: 164,828,583 (GRCm39) |
W508R |
probably damaging |
Het |
| Slc43a2 |
T |
C |
11: 75,453,676 (GRCm39) |
C225R |
probably damaging |
Het |
| Slc6a9 |
T |
C |
4: 117,722,056 (GRCm39) |
F440L |
probably damaging |
Het |
| Stac3 |
G |
A |
10: 127,344,017 (GRCm39) |
R305H |
probably damaging |
Het |
| Stk32b |
A |
G |
5: 37,616,940 (GRCm39) |
|
probably benign |
Het |
| Syna |
A |
T |
5: 134,588,397 (GRCm39) |
L184H |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,494,302 (GRCm39) |
N401S |
probably damaging |
Het |
| Tut4 |
T |
G |
4: 108,384,201 (GRCm39) |
S1089R |
probably damaging |
Het |
| Yeats2 |
T |
A |
16: 20,012,474 (GRCm39) |
Y557* |
probably null |
Het |
| Zfp352 |
T |
C |
4: 90,112,522 (GRCm39) |
S221P |
probably damaging |
Het |
| Zfp575 |
A |
G |
7: 24,285,512 (GRCm39) |
V43A |
probably benign |
Het |
| Zfp775 |
A |
G |
6: 48,597,706 (GRCm39) |
T527A |
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 |
|
|
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 |
|
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'- AGGTCAAAGGTTGGGAAGTCACTTG -3'
(R):5'- ACCTTGTTACCCTTATTGGCTGAGC -3'
Sequencing Primer
(F):5'- gttgggaagtcacttgGGAAG -3'
(R):5'- CTGTCAAGTTCAAAGGGATACTG -3'
|
| Posted On |
2014-05-20 |
Incidental Mutation