Incidental Mutation 'R8967:Abr'
| ID |
682812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abr
|
| Ensembl Gene |
ENSMUSG00000017631 |
| Gene Name |
active BCR-related gene |
| Synonyms |
6330400K15Rik |
| MMRRC Submission |
068801-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.735)
|
| Stock # |
R8967 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
76307560-76468515 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 76369855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 178
(S178I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072740]
[ENSMUST00000094012]
[ENSMUST00000108407]
[ENSMUST00000108408]
[ENSMUST00000151526]
[ENSMUST00000155035]
[ENSMUST00000176024]
[ENSMUST00000176179]
|
| AlphaFold |
Q5SSL4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072740
AA Change: S166I
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000072522
Gene: ENSMUSG00000017631
AA Change: S166I
| 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: S178I
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000091551
Gene: ENSMUSG00000017631
AA Change: S178I
| 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 |
possibly damaging
Transcript: ENSMUST00000108407
AA Change: S120I
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104044
Gene: ENSMUSG00000017631
AA Change: S120I
| 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 |
possibly damaging
Transcript: ENSMUST00000108408
AA Change: S129I
PolyPhen 2
Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104045
Gene: ENSMUSG00000017631
AA Change: S129I
| 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 |
possibly damaging
Transcript: ENSMUST00000151526
AA Change: S76I
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135544
Gene: ENSMUSG00000017631
AA Change: S76I
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
5 |
161 |
3.85e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155035
|
| SMART Domains |
Protein: ENSMUSP00000122614
Gene: ENSMUSG00000017631
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RhoGEF
|
49 |
110 |
1.6e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176024
|
| SMART Domains |
Protein: ENSMUSP00000135691
Gene: ENSMUSG00000017631
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1kz7a1
|
41 |
92 |
1e-5 |
SMART |
|
Blast:RhoGEF
|
49 |
92 |
5e-22 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176179
AA Change: S120I
PolyPhen 2
Score 0.836 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135515
Gene: ENSMUSG00000017631
AA Change: S120I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RhoGEF
|
49 |
128 |
1.1e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (52/52) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,242,696 (GRCm39) |
S1520P |
probably benign |
Het |
| Abhd12 |
A |
G |
2: 150,679,351 (GRCm39) |
Y291H |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,378,882 (GRCm39) |
I422K |
possibly damaging |
Het |
| Arfgef2 |
A |
T |
2: 166,677,662 (GRCm39) |
T185S |
probably damaging |
Het |
| Arfip2 |
A |
T |
7: 105,286,341 (GRCm39) |
Y228N |
probably damaging |
Het |
| B4gat1 |
T |
C |
19: 5,089,678 (GRCm39) |
V225A |
probably damaging |
Het |
| Brf1 |
G |
A |
12: 112,937,239 (GRCm39) |
P183S |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,163,297 (GRCm39) |
N312S |
possibly damaging |
Het |
| Cep135 |
T |
C |
5: 76,751,165 (GRCm39) |
L337P |
probably damaging |
Het |
| Cnppd1 |
A |
T |
1: 75,113,265 (GRCm39) |
C334* |
probably null |
Het |
| Cpxm2 |
A |
T |
7: 131,661,564 (GRCm39) |
Y408N |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,419,426 (GRCm39) |
V739A |
possibly damaging |
Het |
| Dlx3 |
T |
C |
11: 95,014,577 (GRCm39) |
Y287H |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,682,594 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
C |
A |
11: 66,015,938 (GRCm39) |
|
probably null |
Het |
| Dnai3 |
T |
A |
3: 145,761,395 (GRCm39) |
N654Y |
possibly damaging |
Het |
| Dnajc1 |
A |
T |
2: 18,313,757 (GRCm39) |
Y121* |
probably null |
Het |
| Ecel1 |
A |
T |
1: 87,078,862 (GRCm39) |
Y526N |
probably damaging |
Het |
| Ect2 |
A |
T |
3: 27,199,132 (GRCm39) |
V218E |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,790,738 (GRCm39) |
|
probably null |
Het |
| Hsd17b7 |
A |
T |
1: 169,796,685 (GRCm39) |
L6* |
probably null |
Het |
| Irgc |
T |
A |
7: 24,132,737 (GRCm39) |
T27S |
probably benign |
Het |
| Lama3 |
A |
C |
18: 12,665,096 (GRCm39) |
I671L |
possibly damaging |
Het |
| Mybl2 |
T |
C |
2: 162,914,806 (GRCm39) |
L308P |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nphp1 |
G |
A |
2: 127,582,897 (GRCm39) |
P672L |
probably damaging |
Het |
| Oas3 |
G |
A |
5: 120,896,907 (GRCm39) |
H905Y |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,972,740 (GRCm39) |
V2102A |
probably benign |
Het |
| Or10j3 |
A |
G |
1: 173,031,039 (GRCm39) |
T39A |
probably benign |
Het |
| Or1j20 |
A |
T |
2: 36,760,066 (GRCm39) |
T163S |
probably damaging |
Het |
| Or2a57 |
T |
C |
6: 43,213,073 (GRCm39) |
F177S |
probably damaging |
Het |
| Or4p8 |
A |
T |
2: 88,727,844 (GRCm39) |
Y32* |
probably null |
Het |
| Or6z7 |
A |
G |
7: 6,484,011 (GRCm39) |
L48P |
possibly damaging |
Het |
| Pank4 |
C |
G |
4: 155,055,415 (GRCm39) |
H262D |
probably benign |
Het |
| Phkb |
T |
A |
8: 86,756,063 (GRCm39) |
|
probably benign |
Het |
| Pxylp1 |
G |
A |
9: 96,707,324 (GRCm39) |
T286M |
probably damaging |
Het |
| Pygm |
A |
T |
19: 6,434,744 (GRCm39) |
D79V |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,056,854 (GRCm39) |
T682A |
possibly damaging |
Het |
| Sec24b |
C |
T |
3: 129,785,084 (GRCm39) |
R974Q |
probably damaging |
Het |
| Serpinb6e |
A |
G |
13: 34,020,419 (GRCm39) |
F230L |
possibly damaging |
Het |
| Skint6 |
A |
T |
4: 112,729,701 (GRCm39) |
L850* |
probably null |
Het |
| Slc7a11 |
C |
A |
3: 50,338,564 (GRCm39) |
V282L |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,765,739 (GRCm39) |
S1895P |
unknown |
Het |
| Tango2 |
A |
G |
16: 18,165,763 (GRCm39) |
|
probably benign |
Het |
| Tmc7 |
G |
A |
7: 118,160,228 (GRCm39) |
P203L |
probably benign |
Het |
| Tmem64 |
T |
A |
4: 15,266,575 (GRCm39) |
F208L |
probably damaging |
Het |
| Tpcn1 |
A |
T |
5: 120,694,023 (GRCm39) |
V191E |
probably damaging |
Het |
| Zbtb41 |
A |
G |
1: 139,370,587 (GRCm39) |
I675V |
probably benign |
Het |
| Zfp180 |
T |
C |
7: 23,804,726 (GRCm39) |
S382P |
probably damaging |
Het |
| Zfp932 |
A |
G |
5: 110,156,883 (GRCm39) |
S194G |
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 |
|
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 |
|
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'- TCCAAGTCCAATTGCCCTAAAG -3'
(R):5'- AGTGTCACAATCTGCCCAGG -3'
Sequencing Primer
(F):5'- TTGCCCTAAAGAACCCAGGTC -3'
(R):5'- AACGAACGCTCTGGTTCATTC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation