Incidental Mutation 'R0144:Btnl6'
ID 22538
Institutional Source Beutler Lab
Gene Symbol Btnl6
Ensembl Gene ENSMUSG00000092618
Gene Name butyrophilin-like 6
Synonyms Gm6519, NG13
MMRRC Submission 038429-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R0144 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 34726778-34736326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 34732994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 290 (R290S)
Ref Sequence ENSEMBL: ENSMUSP00000074927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075483]
AlphaFold A2CG22
Predicted Effect probably benign
Transcript: ENSMUST00000075483
AA Change: R290S

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: R290S

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
IG 37 145 2.06e-5 SMART
SCOP:d1c5ch2 151 222 1e-2 SMART
Blast:IG_like 152 228 2e-23 BLAST
transmembrane domain 252 271 N/A INTRINSIC
low complexity region 312 326 N/A INTRINSIC
SPRY 384 509 1.23e-19 SMART
low complexity region 510 539 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173164
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 87.0%
Validation Efficiency 100% (90/90)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T A 12: 84,652,739 (GRCm39) probably null Het
Acp6 T A 3: 97,073,145 (GRCm39) probably benign Het
AI661453 A T 17: 47,780,224 (GRCm39) probably benign Het
Aox1 A G 1: 58,109,233 (GRCm39) I674V probably benign Het
Armc2 A T 10: 41,823,883 (GRCm39) probably benign Het
Atp8b1 G C 18: 64,704,445 (GRCm39) probably benign Het
Baz2b A T 2: 59,737,839 (GRCm39) N1823K probably damaging Het
Bbx C T 16: 50,100,755 (GRCm39) E47K probably benign Het
Brca1 A T 11: 101,416,947 (GRCm39) S396T probably damaging Het
Casp8ap2 A G 4: 32,643,797 (GRCm39) R957G possibly damaging Het
Ccdc13 A G 9: 121,656,417 (GRCm39) L132P probably damaging Het
Ccdc187 A G 2: 26,166,215 (GRCm39) I738T probably damaging Het
Ceacam15 G T 7: 16,407,116 (GRCm39) H134N probably benign Het
Cep170 T C 1: 176,620,161 (GRCm39) I46V probably benign Het
Cfap57 T C 4: 118,441,902 (GRCm39) D722G probably damaging Het
Col11a1 A T 3: 113,907,243 (GRCm39) D628V unknown Het
Csmd1 A T 8: 16,441,838 (GRCm39) V342E probably benign Het
Dennd1a A G 2: 38,016,652 (GRCm39) V64A probably damaging Het
Dlec1 G T 9: 118,971,934 (GRCm39) G1345V probably benign Het
Dnah1 G A 14: 30,989,831 (GRCm39) probably benign Het
Dock5 C T 14: 68,023,735 (GRCm39) G1142D probably benign Het
Etv2 C A 7: 30,334,308 (GRCm39) A142S probably benign Het
Fam110c C A 12: 31,124,500 (GRCm39) T154K unknown Het
Fbxo17 C G 7: 28,434,765 (GRCm39) D183E probably damaging Het
Fbxo30 T A 10: 11,170,964 (GRCm39) W681R probably damaging Het
Fig4 A G 10: 41,134,045 (GRCm39) Y413H probably damaging Het
Gab1 A G 8: 81,511,830 (GRCm39) probably benign Het
Gabarapl1 T C 6: 129,510,411 (GRCm39) M1T probably null Het
H2-M10.6 G A 17: 37,123,133 (GRCm39) C22Y probably damaging Het
Igfn1 T C 1: 135,889,751 (GRCm39) D2432G probably damaging Het
Il13 T C 11: 53,524,003 (GRCm39) D60G possibly damaging Het
Iqgap1 A G 7: 80,401,668 (GRCm39) L479P probably damaging Het
Itpr2 T A 6: 146,228,653 (GRCm39) Q1314L probably damaging Het
Jrk C T 15: 74,578,005 (GRCm39) G427S probably benign Het
Kcnb1 T G 2: 166,946,467 (GRCm39) N794H probably damaging Het
Klhl8 A T 5: 104,015,804 (GRCm39) S361R probably benign Het
Krt87 T C 15: 101,336,542 (GRCm39) Y37C probably benign Het
Lbp A T 2: 158,161,630 (GRCm39) S231C probably damaging Het
Lpin2 A G 17: 71,532,071 (GRCm39) E142G probably damaging Het
Lrch4 G A 5: 137,636,805 (GRCm39) probably null Het
Lypd11 A G 7: 24,423,015 (GRCm39) V101A possibly damaging Het
Manea A G 4: 26,340,719 (GRCm39) M81T probably benign Het
Mcm3ap A G 10: 76,316,849 (GRCm39) T618A probably benign Het
Me3 A G 7: 89,389,080 (GRCm39) D128G probably damaging Het
Mix23 A T 16: 35,905,484 (GRCm39) N92I possibly damaging Het
Mug2 A G 6: 122,047,970 (GRCm39) probably benign Het
Myo9b A T 8: 71,798,687 (GRCm39) Q901L probably damaging Het
Nalcn T C 14: 123,608,948 (GRCm39) R640G probably damaging Het
Nalcn C T 14: 123,647,251 (GRCm39) probably benign Het
Ncor1 T C 11: 62,283,421 (GRCm39) N422S probably damaging Het
Nf1 T A 11: 79,437,953 (GRCm39) Y88N probably damaging Het
Nrxn3 G A 12: 89,315,162 (GRCm39) A358T probably damaging Het
Or52s1 A T 7: 102,861,747 (GRCm39) I216F probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5p62 T C 7: 107,771,178 (GRCm39) I258V probably benign Het
Phlpp2 C T 8: 110,634,145 (GRCm39) R242W probably damaging Het
Pld5 T C 1: 175,798,107 (GRCm39) N431D probably benign Het
Prss28 G A 17: 25,528,424 (GRCm39) V16M probably damaging Het
Psmd2 T A 16: 20,480,975 (GRCm39) probably null Het
Ptpn21 A T 12: 98,654,868 (GRCm39) S700T probably benign Het
Rasa2 A T 9: 96,474,072 (GRCm39) V152D probably damaging Het
Reln G T 5: 22,153,447 (GRCm39) R2286S probably damaging Het
Rflnb G T 11: 75,915,789 (GRCm39) P102Q probably damaging Het
Rin2 G A 2: 145,718,559 (GRCm39) V680I probably damaging Het
Rnf213 A T 11: 119,370,426 (GRCm39) K4742* probably null Het
Rpp40 A T 13: 36,085,352 (GRCm39) S143T probably benign Het
Rps12 A G 10: 23,662,689 (GRCm39) I51T probably benign Het
Rsf1 T A 7: 97,285,614 (GRCm39) W109R probably damaging Het
Sipa1l2 C T 8: 126,176,615 (GRCm39) probably null Het
Tspan5 G T 3: 138,604,109 (GRCm39) V165L probably damaging Het
Uts2r T A 11: 121,052,291 (GRCm39) V385E probably benign Het
Vma21-ps T A 4: 52,497,231 (GRCm39) D5V possibly damaging Het
Vmn2r62 T A 7: 42,438,440 (GRCm39) N132I probably damaging Het
Zfp622 T C 15: 25,991,665 (GRCm39) probably benign Het
Zmiz1 A G 14: 25,655,671 (GRCm39) K766R probably damaging Het
Other mutations in Btnl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02127:Btnl6 APN 17 34,733,017 (GRCm39) missense probably benign 0.00
IGL02501:Btnl6 APN 17 34,734,648 (GRCm39) missense possibly damaging 0.82
IGL02539:Btnl6 APN 17 34,727,288 (GRCm39) missense probably benign 0.00
IGL02629:Btnl6 APN 17 34,733,442 (GRCm39) missense probably damaging 1.00
IGL02724:Btnl6 APN 17 34,727,149 (GRCm39) nonsense probably null
IGL03366:Btnl6 APN 17 34,727,153 (GRCm39) missense probably damaging 1.00
R0013:Btnl6 UTSW 17 34,734,505 (GRCm39) nonsense probably null
R0025:Btnl6 UTSW 17 34,733,273 (GRCm39) missense probably benign 0.02
R0255:Btnl6 UTSW 17 34,727,477 (GRCm39) missense probably benign 0.01
R1474:Btnl6 UTSW 17 34,732,620 (GRCm39) missense probably damaging 1.00
R1757:Btnl6 UTSW 17 34,733,062 (GRCm39) missense probably benign 0.09
R1838:Btnl6 UTSW 17 34,734,516 (GRCm39) missense probably damaging 0.99
R2149:Btnl6 UTSW 17 34,733,321 (GRCm39) missense possibly damaging 0.47
R2994:Btnl6 UTSW 17 34,734,498 (GRCm39) missense possibly damaging 0.82
R3441:Btnl6 UTSW 17 34,727,292 (GRCm39) missense probably benign 0.06
R3809:Btnl6 UTSW 17 34,727,202 (GRCm39) missense probably benign 0.00
R3936:Btnl6 UTSW 17 34,736,316 (GRCm39) missense probably benign
R4462:Btnl6 UTSW 17 34,727,031 (GRCm39) missense probably damaging 1.00
R4604:Btnl6 UTSW 17 34,727,435 (GRCm39) missense possibly damaging 0.91
R4618:Btnl6 UTSW 17 34,733,120 (GRCm39) missense probably damaging 0.98
R4832:Btnl6 UTSW 17 34,732,966 (GRCm39) missense possibly damaging 0.80
R5369:Btnl6 UTSW 17 34,726,959 (GRCm39) nonsense probably null
R5422:Btnl6 UTSW 17 34,733,081 (GRCm39) missense possibly damaging 0.93
R6046:Btnl6 UTSW 17 34,727,371 (GRCm39) missense probably damaging 1.00
R6170:Btnl6 UTSW 17 34,734,480 (GRCm39) missense probably damaging 0.99
R6385:Btnl6 UTSW 17 34,727,343 (GRCm39) missense probably benign 0.01
R8213:Btnl6 UTSW 17 34,727,857 (GRCm39) splice site probably null
R8676:Btnl6 UTSW 17 34,727,043 (GRCm39) missense probably benign 0.00
R8895:Btnl6 UTSW 17 34,734,391 (GRCm39) missense probably benign 0.01
R9654:Btnl6 UTSW 17 34,733,140 (GRCm39) missense probably damaging 1.00
R9665:Btnl6 UTSW 17 34,732,635 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCCTTCCTTTGAGCTGAAAAGCAAC -3'
(R):5'- ACAGAGCCCTTCTTTCCCAAGGTC -3'

Sequencing Primer
(F):5'- GGGTTCCTGATTCTCTGAACTACAG -3'
(R):5'- AAGGTCTCTCCCTGGAAGC -3'
Posted On 2013-04-16