Incidental Mutation 'R1460:Btnl2'
ID 162103
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
MMRRC Submission 039515-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1460 (G1)
Quality Score 183
Status Validated
Chromosome 17
Chromosomal Location 34573796-34588469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34585424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 475 (D475G)
Ref Sequence ENSEMBL: ENSMUSP00000137048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025198] [ENSMUST00000178562]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000025198
AA Change: D475G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000025198
Gene: ENSMUSG00000024340
AA Change: D475G

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 benign
Transcript: ENSMUST00000178562
AA Change: D475G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137048
Gene: ENSMUSG00000024340
AA Change: D475G

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.2%
  • 20x: 89.1%
Validation Efficiency 94% (93/99)
Allele List at MGI
Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522H14Rik A T 4: 109,388,407 (GRCm39) probably null Het
Abcb11 A G 2: 69,087,718 (GRCm39) probably benign Het
Abi3bp T C 16: 56,382,780 (GRCm39) V130A probably damaging Het
Adamts4 A G 1: 171,084,009 (GRCm39) probably benign Het
Adgrd1 A G 5: 129,199,627 (GRCm39) T155A possibly damaging Het
Ano3 A T 2: 110,513,103 (GRCm39) S631T probably damaging Het
Ass1 G A 2: 31,404,753 (GRCm39) V345I probably benign Het
Atg7 G A 6: 114,680,325 (GRCm39) A384T probably damaging Het
Atp6v0a1 T A 11: 100,924,824 (GRCm39) I303N probably damaging Het
B3gntl1 T G 11: 121,530,624 (GRCm39) Y149S probably damaging Het
Cdcp1 A T 9: 123,009,092 (GRCm39) S529T possibly damaging Het
Cenpt A G 8: 106,575,520 (GRCm39) L194P probably damaging Het
Cfhr4 T A 1: 139,625,934 (GRCm39) I788F probably damaging Het
Chmp4b A G 2: 154,534,515 (GRCm39) D177G possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cish G T 9: 107,177,596 (GRCm39) E91* probably null Het
Col22a1 T C 15: 71,693,780 (GRCm39) D740G unknown Het
Cplane2 T C 4: 140,945,523 (GRCm39) F125L probably damaging Het
Crocc G A 4: 140,756,551 (GRCm39) Q1025* probably null Het
Ctrc C A 4: 141,566,120 (GRCm39) probably benign Het
Cyb5r2 T A 7: 107,356,450 (GRCm39) D7V probably benign Het
Dhx29 T C 13: 113,101,744 (GRCm39) probably benign Het
Dhx9 A C 1: 153,341,426 (GRCm39) D607E probably benign Het
Dnajb7 C T 15: 81,291,888 (GRCm39) G150R probably benign Het
Dnase1l3 T A 14: 7,974,050 (GRCm38) T214S probably benign Het
Dpm1 A T 2: 168,052,549 (GRCm39) I229N probably damaging Het
Dstn T C 2: 143,780,408 (GRCm39) V36A possibly damaging Het
Entpd1 T C 19: 40,714,632 (GRCm39) V247A probably damaging Het
Ephb3 C A 16: 21,037,672 (GRCm39) H277Q probably benign Het
Etl4 A T 2: 20,793,288 (GRCm39) N671I probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fancd2os G A 6: 113,574,973 (GRCm39) T11I probably damaging Het
Fcrlb G T 1: 170,739,853 (GRCm39) probably benign Het
Fhip1a T C 3: 85,638,183 (GRCm39) I39V probably damaging Het
Gm9991 T C 1: 90,606,780 (GRCm39) noncoding transcript Het
Gstk1 C T 6: 42,223,529 (GRCm39) R40W probably damaging Het
Gstt1 C T 10: 75,620,004 (GRCm39) V190M probably damaging Het
Hectd2 G A 19: 36,592,908 (GRCm39) W691* probably null Het
Hecw2 T C 1: 53,852,404 (GRCm39) T1572A probably damaging Het
Hoxa5 T C 6: 52,180,928 (GRCm39) T135A probably benign Het
Igfl3 T A 7: 17,913,880 (GRCm39) C77S possibly damaging Het
Itgb4 A G 11: 115,874,990 (GRCm39) D449G probably damaging Het
Larp1b T C 3: 40,916,653 (GRCm39) V11A probably benign Het
Lhx9 A G 1: 138,766,447 (GRCm39) probably benign Het
Lig3 G T 11: 82,686,624 (GRCm39) probably benign Het
Lipo4 A C 19: 33,476,718 (GRCm39) F343L probably benign Het
Lyn T A 4: 3,789,908 (GRCm39) Y480* probably null Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mill1 C A 7: 17,996,595 (GRCm39) A137D probably damaging Het
Mmut T C 17: 41,248,266 (GRCm39) Y98H probably damaging Het
Morc2a A T 11: 3,633,794 (GRCm39) R635S probably benign Het
Mpped2 A G 2: 106,575,237 (GRCm39) probably benign Het
Mug2 T C 6: 122,017,492 (GRCm39) probably benign Het
Mynn C A 3: 30,657,853 (GRCm39) S57Y probably damaging Het
Myo3b G A 2: 70,062,798 (GRCm39) E333K probably benign Het
Myt1 A T 2: 181,444,725 (GRCm39) I514F probably damaging Het
Nlrp4f A G 13: 65,338,082 (GRCm39) C708R probably benign Het
Nod2 A G 8: 89,390,440 (GRCm39) E249G probably damaging Het
Npy2r T C 3: 82,448,251 (GRCm39) I175V probably benign Het
Obscn A T 11: 58,946,792 (GRCm39) V4114D probably damaging Het
Or1l8 A T 2: 36,817,820 (GRCm39) M102K probably damaging Het
Or2y12 T A 11: 49,426,504 (GRCm39) M164K possibly damaging Het
Or4a76 A G 2: 89,460,282 (GRCm39) probably null Het
Or52e7 T A 7: 104,684,915 (GRCm39) I170N possibly damaging Het
Or8g33 A G 9: 39,337,503 (GRCm39) M288T probably benign Het
Pbxip1 T A 3: 89,352,921 (GRCm39) I196N probably damaging Het
Piezo1 G A 8: 123,228,890 (GRCm39) T209M possibly damaging Het
Polr1a T C 6: 71,918,368 (GRCm39) M642T probably damaging Het
Prdm4 T C 10: 85,743,686 (GRCm39) M190V probably benign Het
Psmd7 G A 8: 108,307,691 (GRCm39) S264L possibly damaging Het
Qrich1 T G 9: 108,410,846 (GRCm39) probably benign Het
Rapgef4 G T 2: 71,861,520 (GRCm39) probably null Het
Rfx5 T C 3: 94,863,636 (GRCm39) I95T probably damaging Het
Rgr G A 14: 36,767,683 (GRCm39) R113C probably damaging Het
Rnf20 T C 4: 49,645,873 (GRCm39) probably benign Het
Rps3a1 G A 3: 86,045,369 (GRCm39) A241V probably benign Het
Rttn A T 18: 89,127,481 (GRCm39) probably benign Het
Scn2a A G 2: 65,532,187 (GRCm39) T600A probably damaging Het
Scyl2 T C 10: 89,493,751 (GRCm39) D339G possibly damaging Het
Sipa1 T A 19: 5,701,475 (GRCm39) H1029L probably benign Het
Slc49a4 T C 16: 35,539,736 (GRCm39) T362A probably benign Het
Snrnp48 A G 13: 38,395,081 (GRCm39) T124A probably benign Het
Sptbn1 A T 11: 30,088,637 (GRCm39) M875K possibly damaging Het
Supt6 A G 11: 78,113,024 (GRCm39) V973A possibly damaging Het
Supv3l1 T C 10: 62,279,162 (GRCm39) probably benign Het
Svep1 G T 4: 58,068,740 (GRCm39) N3015K possibly damaging Het
Tgfb3 A G 12: 86,105,841 (GRCm39) probably benign Het
Trerf1 A G 17: 47,628,771 (GRCm39) noncoding transcript Het
Trim24 T A 6: 37,941,761 (GRCm39) F904I probably damaging Het
Trim30d T A 7: 104,121,311 (GRCm39) Y328F probably benign Het
Ttn T C 2: 76,698,717 (GRCm39) E6G probably damaging Het
Ube2m T C 7: 12,769,762 (GRCm39) probably benign Het
Vmn2r-ps158 A T 7: 42,672,639 (GRCm39) R91S probably benign Het
Wdr90 A T 17: 26,079,422 (GRCm39) S237R possibly damaging Het
Zfp735 A T 11: 73,603,159 (GRCm39) H701L possibly damaging Het
Zp1 T C 19: 10,896,242 (GRCm39) D161G probably benign 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
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
R4839:Btnl2 UTSW 17 34,584,260 (GRCm39) nonsense probably null
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'- ACTTTCAGGAAGACTGAGCCAACG -3'
(R):5'- TTGTACTTCCCCACCAGGCTAGAC -3'

Sequencing Primer
(F):5'- CAACGGGTTCCTGGAGAGAC -3'
(R):5'- AACACTGAGCAGTCTCTCTAGTC -3'
Posted On 2014-03-14