Incidental Mutation 'R2147:Abr'
ID 233934
Institutional Source Beutler Lab
Gene Symbol Abr
Ensembl Gene ENSMUSG00000017631
Gene Name active BCR-related gene
Synonyms 6330400K15Rik
MMRRC Submission 040150-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.735) question?
Stock # R2147 (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 76346474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 437 (R437G)
Ref Sequence ENSEMBL: ENSMUSP00000104044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065028] [ENSMUST00000072740] [ENSMUST00000094012] [ENSMUST00000108407] [ENSMUST00000108408]
AlphaFold Q5SSL4
Predicted Effect probably benign
Transcript: ENSMUST00000065028
AA Change: R265G

PolyPhen 2 Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000068982
Gene: ENSMUSG00000017631
AA Change: R265G

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: R483G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072522
Gene: ENSMUSG00000017631
AA Change: R483G

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 damaging
Transcript: ENSMUST00000094012
AA Change: R495G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091551
Gene: ENSMUSG00000017631
AA Change: R495G

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: R437G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104044
Gene: ENSMUSG00000017631
AA Change: R437G

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 possibly damaging
Transcript: ENSMUST00000108408
AA Change: R446G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104045
Gene: ENSMUSG00000017631
AA Change: R446G

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: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T A 1: 159,903,003 (GRCm39) M91K probably benign Het
Acaca T G 11: 84,167,362 (GRCm39) D1045E probably benign Het
Adam23 A T 1: 63,573,521 (GRCm39) probably null Het
Adam34 A G 8: 44,105,538 (GRCm39) Y36H probably benign Het
Alg11 G A 8: 22,555,309 (GRCm39) G108D probably damaging Het
Alox12e A T 11: 70,210,771 (GRCm39) I316N probably damaging Het
Arid1a A T 4: 133,408,677 (GRCm39) F1943L unknown Het
Armh4 T C 14: 49,989,028 (GRCm39) D647G probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
BC035044 T C 6: 128,867,867 (GRCm39) probably benign Het
Bcor G A X: 11,923,862 (GRCm39) A578V possibly damaging Het
C1qtnf12 A G 4: 156,050,922 (GRCm39) N297S probably benign Het
Cadps2 G T 6: 23,838,998 (GRCm39) probably benign Het
Ccnf A T 17: 24,449,288 (GRCm39) probably null Het
Cdadc1 A G 14: 59,835,202 (GRCm39) probably null Het
Cep57l1 A G 10: 41,616,895 (GRCm39) Y131H probably damaging Het
Cfap251 T C 5: 123,394,254 (GRCm39) V381A probably benign Het
Cfap44 A G 16: 44,272,047 (GRCm39) R1267G probably benign Het
Chd3 A T 11: 69,239,854 (GRCm39) L1658Q probably benign Het
Chl1 T C 6: 103,692,362 (GRCm39) probably null Het
Chpf2 T A 5: 24,797,033 (GRCm39) F660I probably damaging Het
Cmas T A 6: 142,717,015 (GRCm39) D302E probably benign Het
Cpne3 T A 4: 19,536,562 (GRCm39) M233L probably benign Het
Csmd3 CCTTTGCGCTT CCTT 15: 47,604,632 (GRCm39) probably null Het
Dennd3 T G 15: 73,395,336 (GRCm39) L143R probably damaging Het
Dnah2 T C 11: 69,406,587 (GRCm39) M552V probably benign Het
Dock2 A G 11: 34,179,472 (GRCm39) probably null Het
Ergic1 A G 17: 26,855,024 (GRCm39) probably null Het
Fbxl15 A T 19: 46,317,627 (GRCm39) D103V probably damaging Het
Gm4781 C A 10: 100,232,414 (GRCm39) noncoding transcript Het
Hpca A G 4: 129,012,278 (GRCm39) I86T possibly damaging Het
Katnip T A 7: 125,464,492 (GRCm39) H1286Q probably damaging Het
Lamb3 T C 1: 193,010,212 (GRCm39) V275A probably benign Het
Lipe G T 7: 25,087,946 (GRCm39) A38E probably benign Het
Lrrk1 A T 7: 65,935,159 (GRCm39) probably null Het
Lrsam1 T C 2: 32,835,891 (GRCm39) K292R probably damaging Het
Mbtps1 A T 8: 120,265,598 (GRCm39) H316Q probably benign Het
Mms22l T A 4: 24,580,063 (GRCm39) Y525* probably null Het
Mrps14 T C 1: 160,022,862 (GRCm39) L9P possibly damaging Het
Mycbp2 G A 14: 103,393,358 (GRCm39) H3068Y probably damaging Het
Myo15a A G 11: 60,401,055 (GRCm39) D2992G possibly damaging Het
N4bp2 T A 5: 65,966,543 (GRCm39) L1327Q probably damaging Het
Nradd A T 9: 110,451,243 (GRCm39) F42I probably benign Het
Or5k8 T A 16: 58,644,842 (GRCm39) I77F probably damaging Het
Pank1 T C 19: 34,804,754 (GRCm39) H134R probably benign Het
Pcdh7 T A 5: 58,286,458 (GRCm39) M1178K possibly damaging Het
Pcnx3 A T 19: 5,717,633 (GRCm39) I1084N probably damaging Het
Pdcd11 A G 19: 47,093,191 (GRCm39) M490V probably benign Het
Phf2 T C 13: 48,958,165 (GRCm39) K950E unknown Het
Pitpnc1 C T 11: 107,103,344 (GRCm39) A252T probably damaging Het
Prickle2 A G 6: 92,402,652 (GRCm39) L112P probably damaging Het
Prpf8 A G 11: 75,381,357 (GRCm39) I231V probably benign Het
Scin T A 12: 40,130,984 (GRCm39) M310L probably benign Het
Serpina3m T A 12: 104,355,483 (GRCm39) I50N probably benign Het
Skint8 C G 4: 111,794,274 (GRCm39) N221K probably damaging Het
Slc22a23 C T 13: 34,366,990 (GRCm39) V673M probably benign Het
Slc24a5 A G 2: 124,929,361 (GRCm39) D368G probably damaging Het
Slc28a1 A T 7: 80,776,015 (GRCm39) Q237L possibly damaging Het
Smchd1 T A 17: 71,705,583 (GRCm39) K1005N possibly damaging Het
Stim2 T C 5: 54,262,717 (GRCm39) Y320H probably damaging Het
Syne3 T A 12: 104,919,357 (GRCm39) D512V probably damaging Het
Tada2a T C 11: 83,970,455 (GRCm39) D432G probably damaging Het
Tcp10a T C 17: 7,601,701 (GRCm39) S216P probably damaging Het
Tmem178b A T 6: 40,184,435 (GRCm39) Q111L probably damaging Het
Tmem236 A G 2: 14,223,861 (GRCm39) I217V probably benign Het
Tmem45b A G 9: 31,340,277 (GRCm39) V128A probably benign Het
Tnfaip2 T C 12: 111,412,456 (GRCm39) Y286H probably damaging Het
Tsc2 T A 17: 24,840,116 (GRCm39) I427L possibly damaging Het
Ttc17 T A 2: 94,132,139 (GRCm39) N1180I possibly damaging Het
Ubr1 T G 2: 120,694,811 (GRCm39) D1707A probably damaging Het
Vmn1r11 A G 6: 57,114,583 (GRCm39) I82M probably benign Het
Vmn2r129 T C 4: 156,687,014 (GRCm39) noncoding transcript Het
Vps41 G T 13: 19,023,904 (GRCm39) probably null Het
Wnt5a A G 14: 28,235,274 (GRCm39) Y86C probably damaging Het
Zfp629 T C 7: 127,209,616 (GRCm39) H731R probably damaging Het
Zfp712 T C 13: 67,189,960 (GRCm39) E189G possibly damaging 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
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
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'- ACAGTTTCAGCCACATTGGGC -3'
(R):5'- ACAGCTGTGCTCATGTGAATAC -3'

Sequencing Primer
(F):5'- CCACATTGGGCAGTGAGATC -3'
(R):5'- TGCTCATGTGAATACCTGCAGGAC -3'
Posted On 2014-10-01