Incidental Mutation 'IGL02651:Btnl2'
ID302150
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btnl2
Ensembl Gene ENSMUSG00000024340
Gene Namebutyrophilin-like 2
SynonymsBTLN2, NG9, BTL-II, butyrophylin-like MHC class II associated
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02651
Quality Score
Status
Chromosome17
Chromosomal Location34354822-34369493 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to G at 34356222 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 1 (M1V)
Ref Sequence ENSEMBL: ENSMUSP00000025198 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025198] [ENSMUST00000178562]
Predicted Effect probably null
Transcript: ENSMUST00000025198
AA Change: M1V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025198
Gene: ENSMUSG00000024340
AA Change: M1V

DomainStartEndE-ValueType
IG 35 140 2.16e-8 SMART
Blast:IG_like 150 236 4e-12 BLAST
IGv 262 343 2.89e-9 SMART
Pfam:C2-set_2 361 446 2.6e-6 PFAM
transmembrane domain 457 479 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000178562
AA Change: M1V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137048
Gene: ENSMUSG00000024340
AA Change: M1V

DomainStartEndE-ValueType
IG 35 140 2.16e-8 SMART
Pfam:Ig_3 144 222 5.1e-4 PFAM
Pfam:C2-set_2 146 229 1.8e-6 PFAM
IGv 262 343 2.89e-9 SMART
Pfam:C2-set_2 360 446 3.7e-8 PFAM
Pfam:Ig_2 364 452 4.5e-2 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,932,506 G233S probably benign Het
Abcc1 T A 16: 14,466,126 C1202S probably benign Het
Acaca C T 11: 84,245,204 probably benign Het
Ap3b1 T A 13: 94,477,021 F676Y probably damaging Het
Arhgef11 C A 3: 87,698,864 Q309K probably damaging Het
Asgr1 T C 11: 70,057,130 Y80H possibly damaging Het
Atp13a5 A T 16: 29,334,091 probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Atp8b2 A C 3: 89,954,589 probably null Het
Cpsf3 T A 12: 21,293,297 M121K probably damaging Het
Creb3l3 A G 10: 81,084,834 I454T probably benign Het
Cyp2d12 A G 15: 82,556,740 E153G probably damaging Het
Dnah5 A G 15: 28,350,622 I2597V probably benign Het
Ercc5 C A 1: 44,156,944 S32R probably damaging Het
Fchsd2 T A 7: 101,277,600 N656K possibly damaging Het
Fga G A 3: 83,028,534 E23K probably benign Het
Fn1 T C 1: 71,597,676 T1925A possibly damaging Het
Fstl5 A T 3: 76,593,534 E423D probably damaging Het
Glg1 C T 8: 111,160,727 M465I possibly damaging Het
H2-M10.4 C A 17: 36,460,656 R210L probably benign Het
Hbb-y T G 7: 103,852,750 K105Q probably benign Het
Hspg2 A T 4: 137,557,445 probably benign Het
Ipo11 T C 13: 106,875,606 Y556C probably damaging Het
Itpr3 A G 17: 27,106,398 M1322V probably damaging Het
Jhy A G 9: 40,917,335 L425P probably damaging Het
Krt26 C T 11: 99,333,645 R349Q probably benign Het
Ms4a6c A T 19: 11,478,305 E159D possibly damaging Het
Msh6 A T 17: 87,989,515 L1213F probably damaging Het
Npy1r A C 8: 66,705,023 R328S possibly damaging Het
Olfr1247 A T 2: 89,609,498 N201K possibly damaging Het
Olfr988 A C 2: 85,353,050 L292R probably damaging Het
Pcdhb18 T G 18: 37,491,181 Y521* probably null Het
Pkhd1l1 A T 15: 44,483,814 Y192F probably damaging Het
Rdh12 T A 12: 79,222,052 I301N probably damaging Het
Rptor T C 11: 119,892,612 V1144A possibly damaging Het
Sap25 T C 5: 137,642,370 F171L possibly damaging Het
Senp5 A G 16: 31,990,079 L92P probably benign Het
Sfmbt1 T C 14: 30,815,537 S736P probably damaging Het
Tacr1 T C 6: 82,492,641 S169P probably damaging Het
Tbc1d21 A T 9: 58,363,101 Y130* probably null Het
Tle2 G A 10: 81,586,889 G428D probably damaging Het
Tmem117 T A 15: 95,094,561 N367K probably damaging Het
Tmem210 A G 2: 25,289,089 T130A possibly damaging Het
Ttn T G 2: 76,850,024 probably benign Het
Ttyh1 T C 7: 4,124,679 L122P probably damaging Het
Vmn2r60 T C 7: 42,195,586 F791S probably damaging Het
Vps13d A T 4: 145,164,559 N575K probably benign Het
Vps8 T C 16: 21,517,336 V746A probably damaging Het
Wdfy3 A T 5: 101,896,475 M1888K probably benign Het
Zfp595 T C 13: 67,320,953 D3G probably benign Het
Other mutations in Btnl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02251:Btnl2 APN 17 34363239 nonsense probably null
IGL02252:Btnl2 APN 17 34365390 missense possibly damaging 0.82
IGL02892:Btnl2 APN 17 34362668 missense possibly damaging 0.61
IGL02939:Btnl2 APN 17 34361069 missense probably benign 0.02
IGL03098:Btnl2 UTSW 17 34365216 missense probably benign 0.20
R0504:Btnl2 UTSW 17 34358117 missense probably benign 0.17
R0706:Btnl2 UTSW 17 34368662 missense probably benign 0.21
R1460:Btnl2 UTSW 17 34366450 missense probably benign
R1590:Btnl2 UTSW 17 34361140 missense possibly damaging 0.86
R1597:Btnl2 UTSW 17 34363237 missense probably damaging 1.00
R1880:Btnl2 UTSW 17 34365363 missense possibly damaging 0.89
R3009:Btnl2 UTSW 17 34363518 missense probably damaging 0.99
R3160:Btnl2 UTSW 17 34358065 missense probably damaging 1.00
R3162:Btnl2 UTSW 17 34358065 missense probably damaging 1.00
R3722:Btnl2 UTSW 17 34358135 missense possibly damaging 0.74
R4760:Btnl2 UTSW 17 34363195 missense probably damaging 0.99
R4786:Btnl2 UTSW 17 34363348 missense probably damaging 1.00
R4839:Btnl2 UTSW 17 34365286 nonsense probably null
R5456:Btnl2 UTSW 17 34363321 missense probably benign 0.05
R6959:Btnl2 UTSW 17 34363359 missense possibly damaging 0.47
R7011:Btnl2 UTSW 17 34363513 missense probably damaging 1.00
R7650:Btnl2 UTSW 17 34358129 missense probably damaging 1.00
Posted On2015-04-16