Incidental Mutation 'R4853:Abr'
| ID |
373731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abr
|
| Ensembl Gene |
ENSMUSG00000017631 |
| Gene Name |
active BCR-related gene |
| Synonyms |
6330400K15Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.735)
|
| Stock # |
R4853 (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 76355087 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 244
(T244A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065028]
[ENSMUST00000072740]
[ENSMUST00000094012]
[ENSMUST00000108407]
[ENSMUST00000108408]
[ENSMUST00000151526]
|
| AlphaFold |
Q5SSL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065028
AA Change: T26A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068982
Gene: ENSMUSG00000017631
AA Change: T26A
| 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: T244A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000072522
Gene: ENSMUSG00000017631
AA Change: T244A
| 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: T256A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091551
Gene: ENSMUSG00000017631
AA Change: T256A
| 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: T198A
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104044
Gene: ENSMUSG00000017631
AA Change: T198A
| 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: T207A
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104045
Gene: ENSMUSG00000017631
AA Change: T207A
| 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 |
unknown
Transcript: ENSMUST00000130364
AA Change: T25A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141442
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151526
AA Change: T154A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135544
Gene: ENSMUSG00000017631
AA Change: T154A
| Domain | Start | End | E-Value | Type |
|---|
|
RhoGEF
|
5 |
161 |
3.85e-24 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.8%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
| Adcy10 |
T |
A |
1: 165,375,782 (GRCm39) |
N803K |
probably benign |
Het |
| Afm |
T |
C |
5: 90,699,326 (GRCm39) |
F590S |
probably damaging |
Het |
| Agk |
T |
C |
6: 40,360,753 (GRCm39) |
|
probably null |
Het |
| Agrn |
C |
T |
4: 156,270,007 (GRCm39) |
|
probably null |
Het |
| Apon |
A |
G |
10: 128,090,951 (GRCm39) |
S210G |
probably benign |
Het |
| Atad5 |
A |
G |
11: 79,986,098 (GRCm39) |
E395G |
probably damaging |
Het |
| AU018091 |
A |
T |
7: 3,205,861 (GRCm39) |
L671H |
probably damaging |
Het |
| Capn13 |
GCA |
G |
17: 73,658,501 (GRCm39) |
|
probably null |
Het |
| Ccdc154 |
A |
T |
17: 25,389,941 (GRCm39) |
I524F |
probably damaging |
Het |
| Clspn |
T |
A |
4: 126,460,348 (GRCm39) |
I525K |
probably damaging |
Het |
| Cpne5 |
A |
T |
17: 29,380,172 (GRCm39) |
V448E |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,195,361 (GRCm39) |
I261V |
possibly damaging |
Het |
| Crybb2 |
T |
C |
5: 113,211,054 (GRCm39) |
E78G |
probably damaging |
Het |
| Ctps1 |
G |
T |
4: 120,411,207 (GRCm39) |
L270I |
probably damaging |
Het |
| Cyp19a1 |
T |
C |
9: 54,074,060 (GRCm39) |
D431G |
probably benign |
Het |
| Cyp3a57 |
T |
G |
5: 145,302,489 (GRCm39) |
V95G |
probably damaging |
Het |
| Ddx54 |
A |
G |
5: 120,761,694 (GRCm39) |
D490G |
probably benign |
Het |
| Dnai2 |
A |
T |
11: 114,635,917 (GRCm39) |
I301F |
probably benign |
Het |
| Dsg1b |
A |
G |
18: 20,541,793 (GRCm39) |
S767G |
probably benign |
Het |
| Dsg1b |
A |
T |
18: 20,523,189 (GRCm39) |
|
probably null |
Het |
| Ermap |
G |
A |
4: 119,044,451 (GRCm39) |
P115L |
probably damaging |
Het |
| Esrra |
T |
G |
19: 6,897,440 (GRCm39) |
T106P |
probably damaging |
Het |
| Exoc5 |
GTATT |
GT |
14: 49,289,826 (GRCm39) |
|
probably benign |
Het |
| Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Gnl3 |
T |
C |
14: 30,737,270 (GRCm39) |
K203E |
probably damaging |
Het |
| H2ac13 |
A |
G |
13: 21,900,866 (GRCm39) |
E92G |
probably damaging |
Het |
| Habp2 |
G |
A |
19: 56,299,623 (GRCm39) |
|
probably null |
Het |
| Kcnh3 |
A |
C |
15: 99,139,970 (GRCm39) |
D952A |
possibly damaging |
Het |
| Kif27 |
T |
C |
13: 58,459,072 (GRCm39) |
K920E |
probably benign |
Het |
| Kmt2e |
C |
T |
5: 23,707,339 (GRCm39) |
P1634L |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,104,846 (GRCm39) |
M1312K |
possibly damaging |
Het |
| Myh14 |
T |
A |
7: 44,257,872 (GRCm39) |
Q1921L |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,102,169 (GRCm39) |
V68A |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,158,247 (GRCm39) |
F444L |
unknown |
Het |
| Nedd9 |
A |
G |
13: 41,469,837 (GRCm39) |
Y439H |
probably benign |
Het |
| Nsd1 |
T |
A |
13: 55,416,317 (GRCm39) |
H1454Q |
probably benign |
Het |
| Or10v9 |
T |
A |
19: 11,832,645 (GRCm39) |
D224V |
probably benign |
Het |
| Or51v8 |
G |
T |
7: 103,320,010 (GRCm39) |
T76K |
probably damaging |
Het |
| Or5i1 |
T |
G |
2: 87,613,526 (GRCm39) |
F214C |
probably benign |
Het |
| Or9m1b |
A |
G |
2: 87,836,448 (GRCm39) |
S216P |
probably damaging |
Het |
| P4ha2 |
G |
A |
11: 54,010,996 (GRCm39) |
S337N |
probably benign |
Het |
| Pck1 |
T |
A |
2: 172,996,507 (GRCm39) |
Y140* |
probably null |
Het |
| Phldb2 |
T |
C |
16: 45,623,079 (GRCm39) |
M656V |
probably damaging |
Het |
| Pif1 |
T |
C |
9: 65,500,858 (GRCm39) |
W559R |
probably damaging |
Het |
| Pllp |
T |
C |
8: 95,406,022 (GRCm39) |
Y87C |
probably damaging |
Het |
| Ppp1r3a |
T |
C |
6: 14,719,046 (GRCm39) |
N623D |
probably benign |
Het |
| Prkcg |
C |
T |
7: 3,367,469 (GRCm39) |
R345C |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,433,325 (GRCm39) |
I147V |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,132,018 (GRCm39) |
L1649Q |
probably damaging |
Het |
| Sema3b |
C |
T |
9: 107,479,266 (GRCm39) |
|
probably null |
Het |
| Sh3rf3 |
G |
A |
10: 58,919,341 (GRCm39) |
R486H |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,072,345 (GRCm39) |
K624E |
possibly damaging |
Het |
| Slain2 |
A |
G |
5: 73,105,941 (GRCm39) |
N192S |
probably benign |
Het |
| Slc22a16 |
T |
A |
10: 40,450,047 (GRCm39) |
I161N |
probably damaging |
Het |
| Strip1 |
T |
C |
3: 107,524,232 (GRCm39) |
K562E |
possibly damaging |
Het |
| Sumf1 |
A |
G |
6: 108,162,456 (GRCm39) |
L21S |
probably benign |
Het |
| Sytl3 |
T |
A |
17: 7,005,164 (GRCm39) |
S380T |
probably damaging |
Het |
| Tgfb1i1 |
T |
A |
7: 127,847,840 (GRCm39) |
C74* |
probably null |
Het |
| Tmprss15 |
T |
G |
16: 78,757,479 (GRCm39) |
I939L |
probably benign |
Het |
| Tpsb2 |
GGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTG |
17: 25,585,536 (GRCm39) |
|
probably benign |
Het |
| Vwde |
A |
T |
6: 13,215,639 (GRCm39) |
V139E |
probably damaging |
Het |
| Wdr27 |
A |
G |
17: 15,137,475 (GRCm39) |
|
probably null |
Het |
| Zkscan14 |
A |
G |
5: 145,132,001 (GRCm39) |
V510A |
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 |
|
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'- CCAGGCTATATTTAGGACACGGC -3'
(R):5'- TATTTGGCTTCTCCACGGAG -3'
Sequencing Primer
(F):5'- CCCCGTTGGCATGGTTAC -3'
(R):5'- TGAAAAGGGAGGCATGAGTTG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation