Incidental Mutation 'R4839:Btnl2'
ID 371673
Institutional Source Beutler Lab
Gene Symbol Btnl2
Ensembl Gene ENSMUSG00000024340
Gene Name butyrophilin-like 2
Synonyms butyrophylin-like MHC class II associated, BTL-II, BTLN2, NG9
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4839 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 34573796-34588469 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 34584260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 394 (W394*)
Ref Sequence ENSEMBL: ENSMUSP00000137048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025198] [ENSMUST00000178562]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000025198
AA Change: W394*
SMART Domains Protein: ENSMUSP00000025198
Gene: ENSMUSG00000024340
AA Change: W394*

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: W394*
SMART Domains Protein: ENSMUSP00000137048
Gene: ENSMUSG00000024340
AA Change: W394*

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 9,226,845 (GRCm39) S467T probably benign Het
2310030G06Rik A T 9: 50,652,023 (GRCm39) Y68* probably null Het
Abat T G 16: 8,401,512 (GRCm39) probably benign Het
Abca2 C T 2: 25,330,921 (GRCm39) S1203F probably damaging Het
Adam22 G A 5: 8,186,813 (GRCm39) P436L probably damaging Het
Ak3 A C 19: 29,025,132 (GRCm39) L33R probably damaging Het
Arhgap11a A T 2: 113,672,374 (GRCm39) I198K probably damaging Het
Arl14epl A T 18: 47,065,544 (GRCm39) K103M possibly damaging Het
Atg16l1 T A 1: 87,693,896 (GRCm39) N65K probably damaging Het
Cacna1e C A 1: 154,296,804 (GRCm39) R1687L probably damaging Het
Cacna1g G T 11: 94,350,433 (GRCm39) R471S probably benign Het
Cdh13 A T 8: 119,578,587 (GRCm39) R205* probably null Het
Cdkl3 A T 11: 51,895,861 (GRCm39) Y36F probably damaging Het
Cep290 T A 10: 100,344,648 (GRCm39) N488K probably damaging Het
Cep350 A T 1: 155,804,240 (GRCm39) C948S probably benign Het
Cep70 A G 9: 99,178,138 (GRCm39) K446R probably benign Het
Cfap70 T C 14: 20,475,597 (GRCm39) T375A probably damaging Het
Cfhr1 A G 1: 139,487,871 (GRCm39) L9S probably damaging Het
Chrm4 T A 2: 91,757,952 (GRCm39) M120K probably damaging Het
Col1a1 A G 11: 94,840,921 (GRCm39) probably null Het
Col3a1 T C 1: 45,362,963 (GRCm39) probably null Het
Csrnp3 A T 2: 65,852,375 (GRCm39) R256* probably null Het
Dbf4 T A 5: 8,458,263 (GRCm39) K190* probably null Het
Dnah10 A T 5: 124,850,196 (GRCm39) I1573F probably damaging Het
Dock8 A G 19: 25,146,858 (GRCm39) I1446V probably benign Het
Dst G T 1: 34,229,943 (GRCm39) R2187M probably damaging Het
Ece2 C T 16: 20,449,918 (GRCm39) R257C probably damaging Het
Espn A G 4: 152,222,961 (GRCm39) Y306H probably damaging Het
Fkbpl G A 17: 34,864,839 (GRCm39) M202I probably benign Het
Fn1 A G 1: 71,681,242 (GRCm39) L362P probably damaging Het
Ganc A C 2: 120,290,304 (GRCm39) R880S probably benign Het
Gucy1b2 A T 14: 62,685,695 (GRCm39) L90Q probably damaging Het
Hcn1 T A 13: 118,062,246 (GRCm39) I504N unknown Het
Hdac2 C A 10: 36,873,462 (GRCm39) T352K probably benign Het
Hip1 T C 5: 135,455,172 (GRCm39) probably null Het
Hspa13 G A 16: 75,562,169 (GRCm39) S10L probably damaging Het
Ipo5 T C 14: 121,157,450 (GRCm39) I96T probably benign Het
Isl1 T C 13: 116,438,220 (GRCm39) Y264C probably damaging Het
Izumo1 T C 7: 45,275,657 (GRCm39) I322T probably benign Het
Kars1 A C 8: 112,729,158 (GRCm39) V183G possibly damaging Het
Lrrc15 C A 16: 30,093,086 (GRCm39) M84I probably benign Het
Magi1 A T 6: 93,671,177 (GRCm39) V796E probably damaging Het
Matn4 G T 2: 164,242,896 (GRCm39) D67E probably benign Het
Mertk A G 2: 128,624,496 (GRCm39) M636V probably damaging Het
Mettl27 C A 5: 134,963,266 (GRCm39) P126T probably damaging Het
Mfrp T A 9: 44,013,432 (GRCm39) H52Q possibly damaging Het
Mrgprb8 T G 7: 48,038,656 (GRCm39) I109R probably benign Het
Mroh2a G A 1: 88,165,666 (GRCm39) G512S probably damaging Het
Ncoa7 T A 10: 30,598,655 (GRCm39) R89S possibly damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Nin G T 12: 70,137,325 (GRCm39) H84N possibly damaging Het
Nwd2 A T 5: 63,962,893 (GRCm39) I826F possibly damaging Het
Or10d1 A G 9: 39,484,441 (GRCm39) M38T probably benign Het
Or14c43 T C 7: 86,115,117 (GRCm39) F166S probably damaging Het
Or1j11 G A 2: 36,312,012 (GRCm39) V201I probably benign Het
Or4l15 C T 14: 50,197,646 (GRCm39) M294I probably benign Het
Or52a5b T C 7: 103,416,961 (GRCm39) I214M possibly damaging Het
Or5k3 A G 16: 58,969,393 (GRCm39) Y60C probably damaging Het
Or5p73 T C 7: 108,064,938 (GRCm39) S136P probably benign Het
Otof C T 5: 30,576,748 (GRCm39) R168H probably damaging Het
Pcdha6 T C 18: 37,101,485 (GRCm39) V226A possibly damaging Het
Pggt1b T C 18: 46,391,166 (GRCm39) I200V possibly damaging Het
Ppat G A 5: 77,098,811 (GRCm39) Q41* probably null Het
Ppfibp2 A T 7: 107,342,192 (GRCm39) H27L probably damaging Het
Rbm27 T A 18: 42,460,510 (GRCm39) I775N probably damaging Het
Rnf40 C T 7: 127,191,812 (GRCm39) R349* probably null Het
Rtp3 A T 9: 110,818,544 (GRCm39) W46R probably damaging Het
Sass6 C T 3: 116,403,949 (GRCm39) R196W probably damaging Het
Sel1l A T 12: 91,799,932 (GRCm39) D131E probably benign Het
Slain2 T C 5: 73,106,066 (GRCm39) S234P probably damaging Het
Slc47a1 C T 11: 61,264,176 (GRCm39) probably null Het
Sp140 CAGAAGAAG CAGAAG 1: 85,538,529 (GRCm39) probably benign Het
Spata31e2 T C 1: 26,724,440 (GRCm39) T247A probably benign Het
Spef2 A T 15: 9,713,264 (GRCm39) Y369* probably null Het
Spred2 T A 11: 19,948,233 (GRCm39) M76K possibly damaging Het
Svs5 T A 2: 164,078,806 (GRCm39) D367V probably benign Het
Tasor2 G A 13: 3,634,807 (GRCm39) P667S probably damaging Het
Tefm A T 11: 80,027,947 (GRCm39) D270E probably benign Het
Tfcp2l1 C A 1: 118,597,194 (GRCm39) P425H probably benign Het
Thbd A T 2: 148,248,591 (GRCm39) C426S probably damaging Het
Timm10b T A 7: 105,333,219 (GRCm39) D968E probably damaging Het
Tle2 C T 10: 81,413,518 (GRCm39) T119I probably damaging Het
Tnik T A 3: 28,650,224 (GRCm39) Y446N possibly damaging Het
Tpr T A 1: 150,324,948 (GRCm39) L2400* probably null Het
Trrap T C 5: 144,782,402 (GRCm39) F3328S probably damaging Het
Vldlr G A 19: 27,215,465 (GRCm39) C154Y probably damaging Het
Vmn1r79 T G 7: 11,910,361 (GRCm39) M81R probably benign Het
Vps13d T C 4: 144,812,000 (GRCm39) T3305A possibly damaging Het
Wdr62 T C 7: 29,970,111 (GRCm39) E232G probably damaging Het
Wdr62 T A 7: 29,940,890 (GRCm39) I843F probably benign Het
Zfp747l1 T C 7: 126,984,179 (GRCm39) S308G probably benign Het
Zfp873 T A 10: 81,896,353 (GRCm39) H361Q probably damaging Het
Zfp949 A C 9: 88,452,047 (GRCm39) H539P probably damaging Het
Other mutations in Btnl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02251:Btnl2 APN 17 34,582,213 (GRCm39) nonsense probably null
IGL02252:Btnl2 APN 17 34,584,364 (GRCm39) missense possibly damaging 0.82
IGL02651:Btnl2 APN 17 34,575,196 (GRCm39) start codon destroyed probably null 1.00
IGL02892:Btnl2 APN 17 34,581,642 (GRCm39) missense possibly damaging 0.61
IGL02939:Btnl2 APN 17 34,580,043 (GRCm39) missense probably benign 0.02
IGL03098:Btnl2 UTSW 17 34,584,190 (GRCm39) missense probably benign 0.20
R0504:Btnl2 UTSW 17 34,577,091 (GRCm39) missense probably benign 0.17
R0706:Btnl2 UTSW 17 34,587,636 (GRCm39) missense probably benign 0.21
R1460:Btnl2 UTSW 17 34,585,424 (GRCm39) missense probably benign
R1590:Btnl2 UTSW 17 34,580,114 (GRCm39) missense possibly damaging 0.86
R1597:Btnl2 UTSW 17 34,582,211 (GRCm39) missense probably damaging 1.00
R1880:Btnl2 UTSW 17 34,584,337 (GRCm39) missense possibly damaging 0.89
R3009:Btnl2 UTSW 17 34,582,492 (GRCm39) missense probably damaging 0.99
R3160:Btnl2 UTSW 17 34,577,039 (GRCm39) missense probably damaging 1.00
R3162:Btnl2 UTSW 17 34,577,039 (GRCm39) missense probably damaging 1.00
R3722:Btnl2 UTSW 17 34,577,109 (GRCm39) missense possibly damaging 0.74
R4760:Btnl2 UTSW 17 34,582,169 (GRCm39) missense probably damaging 0.99
R4786:Btnl2 UTSW 17 34,582,322 (GRCm39) missense probably damaging 1.00
R5456:Btnl2 UTSW 17 34,582,295 (GRCm39) missense probably benign 0.05
R6959:Btnl2 UTSW 17 34,582,333 (GRCm39) missense possibly damaging 0.47
R7011:Btnl2 UTSW 17 34,582,487 (GRCm39) missense probably damaging 1.00
R7650:Btnl2 UTSW 17 34,577,103 (GRCm39) missense probably damaging 1.00
R7785:Btnl2 UTSW 17 34,580,137 (GRCm39) missense probably benign 0.28
R7822:Btnl2 UTSW 17 34,582,288 (GRCm39) missense possibly damaging 0.91
R7988:Btnl2 UTSW 17 34,577,249 (GRCm39) missense possibly damaging 0.87
R8051:Btnl2 UTSW 17 34,582,473 (GRCm39) missense probably damaging 1.00
R8165:Btnl2 UTSW 17 34,587,682 (GRCm39) missense possibly damaging 0.62
R8272:Btnl2 UTSW 17 34,575,275 (GRCm39) critical splice donor site probably null
R8531:Btnl2 UTSW 17 34,577,028 (GRCm39) missense probably benign 0.15
R9677:Btnl2 UTSW 17 34,580,007 (GRCm39) missense possibly damaging 0.94
Z1177:Btnl2 UTSW 17 34,582,493 (GRCm39) missense probably benign 0.19
Predicted Primers PCR Primer
(F):5'- AGAAATCTTGTAGCCAGTCCCAG -3'
(R):5'- CAGTCACCAACCTGAGAGAG -3'

Sequencing Primer
(F):5'- ATTGGCCCAGAGCTCTGTC -3'
(R):5'- CCTGAGAGAGGGAAACGGGC -3'
Posted On 2016-03-01