Incidental Mutation 'R0771:Abr'
ID 76961
Institutional Source Beutler Lab
Gene Symbol Abr
Ensembl Gene ENSMUSG00000017631
Gene Name active BCR-related gene
Synonyms 6330400K15Rik
MMRRC Submission 038951-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R0771 (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 76346509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 434 (E434G)
Ref Sequence ENSEMBL: ENSMUSP00000104045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065028] [ENSMUST00000072740] [ENSMUST00000094012] [ENSMUST00000108407] [ENSMUST00000108408]
AlphaFold Q5SSL4
Predicted Effect possibly damaging
Transcript: ENSMUST00000065028
AA Change: E253G

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000068982
Gene: ENSMUSG00000017631
AA Change: E253G

DomainStartEndE-ValueType
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: E471G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072522
Gene: ENSMUSG00000017631
AA Change: E471G

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 possibly damaging
Transcript: ENSMUST00000094012
AA Change: E483G

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000091551
Gene: ENSMUSG00000017631
AA Change: E483G

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 damaging
Transcript: ENSMUST00000108407
AA Change: E425G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104044
Gene: ENSMUSG00000017631
AA Change: E425G

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 probably damaging
Transcript: ENSMUST00000108408
AA Change: E434G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104045
Gene: ENSMUSG00000017631
AA Change: E434G

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 94.4%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam19 G A 11: 46,012,280 (GRCm39) V259I possibly damaging Het
Adam5 A G 8: 25,276,315 (GRCm39) S451P probably benign Het
Chd6 G A 2: 160,861,500 (GRCm39) L516F probably damaging Het
Elovl4 A G 9: 83,667,168 (GRCm39) V154A possibly damaging Het
Gadl1 G A 9: 115,773,300 (GRCm39) R114Q probably damaging Het
Ipo13 T C 4: 117,751,843 (GRCm39) N936S possibly damaging Het
Kcnd2 T A 6: 21,216,441 (GRCm39) S48R probably damaging Het
Lgalsl2 A G 7: 5,362,822 (GRCm39) D151G probably damaging Het
Lim2 C A 7: 43,080,127 (GRCm39) A38E possibly damaging Het
Lrp2 A T 2: 69,338,334 (GRCm39) D1177E probably damaging Het
Mdh1 C T 11: 21,507,550 (GRCm39) V300I probably benign Het
Mfsd4b4 T C 10: 39,768,407 (GRCm39) T275A probably benign Het
Myo10 A G 15: 25,778,264 (GRCm39) Y114C probably damaging Het
Ncapg2 T A 12: 116,376,779 (GRCm39) C122* probably null Het
Nod1 T G 6: 54,921,254 (GRCm39) S355R probably damaging Het
Or52x1 T A 7: 104,853,368 (GRCm39) M61L possibly damaging Het
Or5ap2 A T 2: 85,680,338 (GRCm39) I181F possibly damaging Het
Pcsk1 A T 13: 75,280,281 (GRCm39) E702V probably benign Het
Ptpn21 T C 12: 98,655,339 (GRCm39) T543A probably damaging Het
Ranbp9 T C 13: 43,615,249 (GRCm39) I190V possibly damaging Het
Sirpd T A 3: 15,385,506 (GRCm39) Q132L probably benign Het
Slc1a4 C T 11: 20,256,467 (GRCm39) V455M probably damaging Het
Srbd1 T A 17: 86,437,682 (GRCm39) E220D probably benign Het
Thsd7a A G 6: 12,327,576 (GRCm39) V1432A probably benign Het
Zfp61 T C 7: 23,992,779 (GRCm39) R71G 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
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
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'- AACCTGAGCCCTGGAGAGAGTATG -3'
(R):5'- TGAGGTCCAATTAAGCCACACAGTG -3'

Sequencing Primer
(F):5'- GGACAGTTTCAGCCACATTG -3'
(R):5'- CATGACAGGCTATCTATGGTCC -3'
Posted On 2013-10-16