Incidental Mutation 'R4208:Gabpb2'
ID319015
Institutional Source Beutler Lab
Gene Symbol Gabpb2
Ensembl Gene ENSMUSG00000038766
Gene NameGA repeat binding protein, beta 2
Synonyms9430006E19Rik, Gabpb2-1, A430024B14Rik, 1810015F01Rik
MMRRC Submission 041037-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4208 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location95181766-95217916 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 95203934 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098873] [ENSMUST00000107204] [ENSMUST00000107209] [ENSMUST00000136139]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000070774
Predicted Effect probably benign
Transcript: ENSMUST00000098873
SMART Domains Protein: ENSMUSP00000096470
Gene: ENSMUSG00000038766

DomainStartEndE-ValueType
Blast:ANK 5 34 3e-10 BLAST
ANK 37 66 3.41e-3 SMART
ANK 70 99 1.18e-6 SMART
ANK 103 132 3.76e-5 SMART
ANK 136 165 1.1e2 SMART
low complexity region 280 292 N/A INTRINSIC
coiled coil region 310 362 N/A INTRINSIC
low complexity region 363 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107204
SMART Domains Protein: ENSMUSP00000102822
Gene: ENSMUSG00000038766

DomainStartEndE-ValueType
Blast:ANK 5 34 5e-11 BLAST
ANK 37 66 3.41e-3 SMART
ANK 70 99 1.18e-6 SMART
ANK 103 132 3.76e-5 SMART
ANK 136 166 1.48e3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107209
SMART Domains Protein: ENSMUSP00000102827
Gene: ENSMUSG00000038766

DomainStartEndE-ValueType
Blast:ANK 5 34 3e-10 BLAST
ANK 37 66 3.41e-3 SMART
ANK 70 99 1.18e-6 SMART
ANK 103 132 3.76e-5 SMART
ANK 136 165 1.1e2 SMART
low complexity region 280 292 N/A INTRINSIC
coiled coil region 310 362 N/A INTRINSIC
low complexity region 363 389 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136139
SMART Domains Protein: ENSMUSP00000121283
Gene: ENSMUSG00000038766

DomainStartEndE-ValueType
Blast:ANK 5 34 3e-10 BLAST
ANK 37 66 3.41e-3 SMART
ANK 70 99 1.18e-6 SMART
ANK 103 132 3.76e-5 SMART
ANK 136 165 1.1e2 SMART
low complexity region 280 292 N/A INTRINSIC
coiled coil region 310 362 N/A INTRINSIC
low complexity region 363 389 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155555
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 100% (57/57)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele are viable with normal T and B cell development but show increased B cell proliferation in response to B cell receptor stimulation, and moderately increased antibody production and germinal center responses when challenged with T-dependent antigens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,931,647 D527V probably damaging Het
A1cf T C 19: 31,932,660 L284P probably benign Het
Abca8b G A 11: 109,981,725 Q17* probably null Het
Abcc6 A C 7: 45,986,563 L1020R probably damaging Het
Ace2 A G X: 164,169,585 I110V probably benign Het
Adamts12 A G 15: 11,071,754 H128R probably benign Het
Apol9a G C 15: 77,404,396 T257S probably benign Het
B4galnt3 A G 6: 120,215,102 S557P probably damaging Het
C3 C T 17: 57,205,303 D1542N possibly damaging Het
Casp12 T C 9: 5,346,629 L52P probably damaging Het
Cep126 C T 9: 8,100,821 E571K probably damaging Het
Cfhr1 A G 1: 139,547,878 probably benign Het
Cmah A G 13: 24,417,427 probably null Het
Col10a1 C T 10: 34,395,543 P504S probably damaging Het
Ctnna3 T A 10: 64,959,778 D758E probably benign Het
Cyp2c65 T C 19: 39,090,655 S393P probably damaging Het
Dclk2 A G 3: 86,830,822 probably null Het
Dis3 T G 14: 99,095,316 I227L probably benign Het
Efhc2 T C X: 17,230,550 N186S possibly damaging Het
F13b G T 1: 139,516,341 W471L probably damaging Het
Fam181a A G 12: 103,315,914 D26G probably damaging Het
Gm7293 A G 9: 51,623,579 noncoding transcript Het
H3f3a C T 1: 180,803,138 R117H probably benign Het
Ino80b G C 6: 83,122,333 P178R probably damaging Het
Kif3b G A 2: 153,323,557 R628Q probably damaging Het
Lars T C 18: 42,229,703 E557G probably benign Het
Ldlrad3 C T 2: 101,953,162 D240N probably damaging Het
Lingo2 T C 4: 35,709,810 I57V probably benign Het
Lsr A G 7: 30,973,094 I27T probably benign Het
Me2 T C 18: 73,791,085 K352R probably benign Het
Met T C 6: 17,548,729 V924A possibly damaging Het
Mpp3 T C 11: 102,000,600 T571A probably benign Het
Olfr1231 A T 2: 89,302,926 I222N probably damaging Het
Olfr665 A G 7: 104,881,603 T299A probably damaging Het
Padi1 C A 4: 140,817,227 V552L possibly damaging Het
Pfkfb1 A T X: 150,622,188 D208V possibly damaging Het
Rnase4 A G 14: 51,105,005 K62R probably benign Het
RP24-126A19.1 C A 5: 146,895,796 R123L noncoding transcript Het
Scn10a T A 9: 119,616,776 E1438V probably damaging Het
Sfmbt2 T A 2: 10,542,982 D458E probably damaging Het
Slitrk3 T A 3: 73,051,157 Y94F possibly damaging Het
Sstr2 A C 11: 113,624,656 T134P probably damaging Het
Steap4 A G 5: 7,980,404 Y420C probably damaging Het
Tamm41 AGGG AGG 6: 115,012,359 probably benign Het
Trav7-3 A G 14: 53,443,746 T82A probably benign Het
Trbv23 A T 6: 41,216,088 I6F probably benign Het
Vmn1r87 A G 7: 13,132,258 V34A probably benign Het
Zc3h7a C T 16: 11,164,644 E6K possibly damaging Het
Zfp606 G A 7: 12,494,175 C683Y probably damaging Het
Other mutations in Gabpb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00987:Gabpb2 APN 3 95200191 missense probably damaging 1.00
IGL02277:Gabpb2 APN 3 95189284 missense probably benign 0.02
R1724:Gabpb2 UTSW 3 95206515 missense probably damaging 1.00
R3980:Gabpb2 UTSW 3 95188770 missense probably damaging 0.99
R4656:Gabpb2 UTSW 3 95188941 missense probably damaging 1.00
R4906:Gabpb2 UTSW 3 95190636 missense probably benign 0.00
R7643:Gabpb2 UTSW 3 95200225 missense probably benign 0.09
R7848:Gabpb2 UTSW 3 95190648 missense probably damaging 0.98
R8375:Gabpb2 UTSW 3 95204798 missense probably damaging 1.00
Z1176:Gabpb2 UTSW 3 95190693 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCATTGCTATGTCAAAGGCAG -3'
(R):5'- AGGCCCTACTCAGCTTTCTG -3'

Sequencing Primer
(F):5'- GCTATGTCAAAGGCAGACTTATC -3'
(R):5'- AGCCATCTGTGAGAATTTCCCAG -3'
Posted On2015-06-10