Incidental Mutation 'R6665:Bin2'
ID 526950
Institutional Source Beutler Lab
Gene Symbol Bin2
Ensembl Gene ENSMUSG00000098112
Gene Name bridging integrator 2
Synonyms
MMRRC Submission 044785-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6665 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 100538963-100567384 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100554676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 49 (E49G)
Ref Sequence ENSEMBL: ENSMUSP00000138158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000182068] [ENSMUST00000182574] [ENSMUST00000182775] [ENSMUST00000182814] [ENSMUST00000183211]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000182068
SMART Domains Protein: ENSMUSP00000138316
Gene: ENSMUSG00000098112

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Pfam:BAR 17 98 5.8e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000182574
AA Change: E76G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138102
Gene: ENSMUSG00000098112
AA Change: E76G

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
Pfam:BAR 17 150 1.2e-25 PFAM
low complexity region 162 210 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000182775
AA Change: E76G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138673
Gene: ENSMUSG00000098112
AA Change: E76G

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
BAR 16 205 2.92e-51 SMART
low complexity region 220 270 N/A INTRINSIC
low complexity region 292 321 N/A INTRINSIC
low complexity region 342 353 N/A INTRINSIC
low complexity region 393 409 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000182814
AA Change: E49G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138158
Gene: ENSMUSG00000098112
AA Change: E49G

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
BAR 16 210 3.28e-54 SMART
low complexity region 225 275 N/A INTRINSIC
low complexity region 297 326 N/A INTRINSIC
low complexity region 347 358 N/A INTRINSIC
low complexity region 398 414 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183211
AA Change: E76G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138523
Gene: ENSMUSG00000098112
AA Change: E76G

DomainStartEndE-ValueType
low complexity region 2 11 N/A INTRINSIC
BAR 16 237 2.32e-77 SMART
low complexity region 252 302 N/A INTRINSIC
low complexity region 324 353 N/A INTRINSIC
low complexity region 374 385 N/A INTRINSIC
low complexity region 425 441 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts15 A G 9: 30,815,775 (GRCm39) probably null Het
Adamts16 T G 13: 70,927,689 (GRCm39) K517Q probably damaging Het
Atp9b A C 18: 80,960,950 (GRCm39) V87G probably benign Het
Avil A G 10: 126,856,394 (GRCm39) K808E probably damaging Het
Ccdc146 T C 5: 21,508,092 (GRCm39) Y652C probably damaging Het
Cd6 T C 19: 10,768,367 (GRCm39) N541D probably benign Het
Col28a1 A G 6: 8,062,277 (GRCm39) V671A probably benign Het
Dock6 C T 9: 21,751,208 (GRCm39) C355Y probably damaging Het
Dsc2 A G 18: 20,183,205 (GRCm39) F71S probably damaging Het
Dusp8 G A 7: 141,643,842 (GRCm39) P24S probably damaging Het
Dysf A G 6: 84,107,098 (GRCm39) Y1151C probably benign Het
Fhip2b A T 14: 70,823,078 (GRCm39) L659Q probably damaging Het
Frem2 T C 3: 53,562,077 (GRCm39) Y810C probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Hexb T C 13: 97,315,893 (GRCm39) N380D probably benign Het
Ice1 T C 13: 70,751,592 (GRCm39) E1498G possibly damaging Het
Lrif1 T A 3: 106,642,659 (GRCm39) probably null Het
Myo9a G T 9: 59,779,155 (GRCm39) G1637V probably benign Het
Myod1 A T 7: 46,026,281 (GRCm39) H62L probably damaging Het
Myoz3 A C 18: 60,709,495 (GRCm39) L222R probably damaging Het
Naca T A 10: 127,884,227 (GRCm39) N2180K probably damaging Het
Or6c76 T C 10: 129,612,116 (GRCm39) F111S probably damaging Het
Pik3cb A G 9: 98,955,702 (GRCm39) V405A probably benign Het
Prkdc T C 16: 15,603,914 (GRCm39) probably null Het
Rab32 T C 10: 10,433,846 (GRCm39) probably benign Het
Serpinb10 A C 1: 107,474,597 (GRCm39) N253T possibly damaging Het
Slc13a5 C T 11: 72,151,186 (GRCm39) V131I probably damaging Het
Slc25a40 A G 5: 8,502,788 (GRCm39) N290S probably benign Het
Slc6a6 T C 6: 91,703,020 (GRCm39) V131A probably benign Het
Spef2 A T 15: 9,600,604 (GRCm39) probably null Het
Stxbp2 A G 8: 3,691,998 (GRCm39) M547V probably benign Het
Tmem247 A T 17: 87,225,998 (GRCm39) Q146L probably benign Het
Vmn2r67 T C 7: 84,785,900 (GRCm39) I702V probably benign Het
Zmynd15 T C 11: 70,355,636 (GRCm39) S436P probably benign Het
Other mutations in Bin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4852:Bin2 UTSW 15 100,543,169 (GRCm39) missense probably damaging 0.96
R5150:Bin2 UTSW 15 100,543,244 (GRCm39) missense probably damaging 0.96
R5236:Bin2 UTSW 15 100,560,415 (GRCm39) missense probably damaging 1.00
R5418:Bin2 UTSW 15 100,547,027 (GRCm39) missense probably damaging 1.00
R5502:Bin2 UTSW 15 100,543,286 (GRCm39) missense probably benign 0.02
R5993:Bin2 UTSW 15 100,542,901 (GRCm39) frame shift probably null
R6082:Bin2 UTSW 15 100,543,029 (GRCm39) missense possibly damaging 0.73
R6550:Bin2 UTSW 15 100,543,358 (GRCm39) missense probably benign 0.41
R6650:Bin2 UTSW 15 100,567,301 (GRCm39) missense probably damaging 1.00
R7618:Bin2 UTSW 15 100,542,894 (GRCm39) missense probably damaging 0.99
R9169:Bin2 UTSW 15 100,554,631 (GRCm39) missense possibly damaging 0.79
R9573:Bin2 UTSW 15 100,560,433 (GRCm39) missense probably damaging 1.00
R9632:Bin2 UTSW 15 100,549,915 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GCAATTGCTTTCTATCGTTAGAGAC -3'
(R):5'- ACTGTTCAGCTGCCCTTGAC -3'

Sequencing Primer
(F):5'- CTATCGTTAGAGACTGAGGCTC -3'
(R):5'- TTGACCCCTGAAGCTCCATGG -3'
Posted On 2018-07-23