Incidental Mutation 'IGL02499:Abr'
ID 295968
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abr
Ensembl Gene ENSMUSG00000017631
Gene Name active BCR-related gene
Synonyms 6330400K15Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # IGL02499
Quality Score
Status
Chromosome 11
Chromosomal Location 76307560-76468515 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76399916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 27 (F27Y)
Ref Sequence ENSEMBL: ENSMUSP00000091551 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072740] [ENSMUST00000094012] [ENSMUST00000108407] [ENSMUST00000155035] [ENSMUST00000176024] [ENSMUST00000176179]
AlphaFold Q5SSL4
Predicted Effect probably benign
Transcript: ENSMUST00000072740
SMART Domains Protein: ENSMUSP00000072522
Gene: ENSMUSG00000017631

DomainStartEndE-ValueType
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: F27Y

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000091551
Gene: ENSMUSG00000017631
AA Change: F27Y

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000104044
Gene: ENSMUSG00000017631

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000119724
Predicted Effect probably benign
Transcript: ENSMUST00000155035
SMART Domains Protein: ENSMUSP00000122614
Gene: ENSMUSG00000017631

DomainStartEndE-ValueType
Pfam:RhoGEF 49 110 1.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176024
SMART Domains Protein: ENSMUSP00000135691
Gene: ENSMUSG00000017631

DomainStartEndE-ValueType
SCOP:d1kz7a1 41 92 1e-5 SMART
Blast:RhoGEF 49 92 5e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000176179
SMART Domains Protein: ENSMUSP00000135515
Gene: ENSMUSG00000017631

DomainStartEndE-ValueType
Pfam:RhoGEF 49 128 1.1e-12 PFAM
Coding Region Coverage
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abcb1a A G 5: 8,776,807 (GRCm39) N835S possibly damaging Het
Adam5 C T 8: 25,271,581 (GRCm39) probably null Het
Alas1 A T 9: 106,118,520 (GRCm39) Y201N probably damaging Het
Aldoart1 T A 4: 72,770,476 (GRCm39) R111W possibly damaging Het
Arhgef25 A G 10: 127,021,460 (GRCm39) Y253H probably damaging Het
Arhgef28 G T 13: 98,090,291 (GRCm39) A1076E possibly damaging Het
Baz2b C T 2: 59,731,840 (GRCm39) R2066K possibly damaging Het
Bdh1 G T 16: 31,256,866 (GRCm39) R5L possibly damaging Het
Brap A G 5: 121,817,934 (GRCm39) Y358C probably damaging Het
Cad T C 5: 31,226,948 (GRCm39) V1235A probably damaging Het
Cadps G T 14: 12,822,725 (GRCm38) S5* probably null Het
Cd200r2 A G 16: 44,734,948 (GRCm39) T220A possibly damaging Het
Cd209e T A 8: 3,904,238 (GRCm39) M6L probably benign Het
Cdh23 G T 10: 60,220,958 (GRCm39) T1265K probably damaging Het
Clec16a T C 16: 10,512,540 (GRCm39) S828P probably benign Het
Dao A G 5: 114,152,002 (GRCm39) K107E possibly damaging Het
Dnah6 T A 6: 72,998,210 (GRCm39) M4071L probably benign Het
Dvl1 T C 4: 155,939,237 (GRCm39) I250T probably benign Het
Dzip3 A C 16: 48,754,213 (GRCm39) L945V probably damaging Het
Gm128 A G 3: 95,147,992 (GRCm39) S101P possibly damaging Het
Gphn T C 12: 78,539,074 (GRCm39) L240P probably benign Het
Hecw2 A G 1: 53,965,647 (GRCm39) I393T probably benign Het
Iigp1c T C 18: 60,378,710 (GRCm39) S82P probably damaging Het
Kat14 A G 2: 144,235,751 (GRCm39) E161G probably benign Het
Kcne3 A C 7: 99,833,610 (GRCm39) I76L probably benign Het
Kcnk18 A T 19: 59,223,614 (GRCm39) Q253L probably benign Het
Kmt2a T C 9: 44,741,806 (GRCm39) probably benign Het
Lrrc73 A G 17: 46,567,915 (GRCm39) probably benign Het
Mki67 A G 7: 135,296,056 (GRCm39) S2993P possibly damaging Het
Mto1 T A 9: 78,368,794 (GRCm39) probably benign Het
Myo9a T A 9: 59,722,669 (GRCm39) probably benign Het
Myt1 G A 2: 181,467,342 (GRCm39) probably benign Het
Ncoa7 T C 10: 30,566,885 (GRCm39) T587A probably benign Het
Nemf T A 12: 69,368,903 (GRCm39) I771F probably damaging Het
Or10k2 T A 8: 84,267,812 (GRCm39) V13D possibly damaging Het
Or5k16 A G 16: 58,736,614 (GRCm39) L130P probably damaging Het
Or8c10 A T 9: 38,278,977 (GRCm39) Y45F probably benign Het
Papln T C 12: 83,827,445 (GRCm39) V761A probably benign Het
Pask A T 1: 93,248,817 (GRCm39) L861* probably null Het
Pcdh18 T A 3: 49,707,896 (GRCm39) R859S probably benign Het
Ppip5k1 C T 2: 121,162,034 (GRCm39) probably null Het
Ptprs A G 17: 56,744,884 (GRCm39) V284A probably damaging Het
Rasgrp4 A T 7: 28,850,928 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,271 (GRCm39) I614V probably benign Het
Sec23ip T C 7: 128,378,640 (GRCm39) I818T probably damaging Het
Skint11 G A 4: 114,051,801 (GRCm39) A50T probably benign Het
Sqor T A 2: 122,650,007 (GRCm39) M417K possibly damaging Het
Tbc1d24 T C 17: 24,426,593 (GRCm39) probably null Het
Tbc1d8b A T X: 138,613,173 (GRCm39) D333V probably damaging Het
Tbx2 T C 11: 85,731,739 (GRCm39) S679P possibly damaging Het
Thbs2 A G 17: 14,904,328 (GRCm39) probably benign Het
Ttn T C 2: 76,689,795 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,493,568 (GRCm39) I126N probably damaging Het
Zbtb10 G T 3: 9,316,800 (GRCm39) G204V probably damaging Het
Zfp426 A C 9: 20,384,414 (GRCm39) probably benign Het
Other mutations in Abr
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16