Incidental Mutation 'R2994:Btnl6'
ID 257161
Institutional Source Beutler Lab
Gene Symbol Btnl6
Ensembl Gene ENSMUSG00000092618
Gene Name butyrophilin-like 6
Synonyms Gm6519, NG13
MMRRC Submission 040529-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R2994 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 34726778-34736326 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34734498 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Isoleucine at position 88 (R88I)
Ref Sequence ENSEMBL: ENSMUSP00000074927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075483]
AlphaFold A2CG22
Predicted Effect possibly damaging
Transcript: ENSMUST00000075483
AA Change: R88I

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000074927
Gene: ENSMUSG00000092618
AA Change: R88I

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,603,538 (GRCm39) S577P probably damaging Het
Agrn T C 4: 156,251,785 (GRCm39) T1826A possibly damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Cfap52 T A 11: 67,830,617 (GRCm39) Y281F probably benign Het
CK137956 T C 4: 127,845,300 (GRCm39) T148A probably benign Het
Fpr3 C T 17: 18,191,130 (GRCm39) Q134* probably null Het
Gbp4 A T 5: 105,284,886 (GRCm39) M1K probably null Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
Nedd4 A G 9: 72,638,185 (GRCm39) D440G probably benign Het
Nlgn1 C T 3: 25,490,162 (GRCm39) D522N probably damaging Het
Oprk1 T C 1: 5,672,955 (GRCm39) V364A probably benign Het
Or1e35 T C 11: 73,797,541 (GRCm39) Y259C probably damaging Het
Or5d18 A G 2: 87,865,301 (GRCm39) Y61H probably damaging Het
Polr1e T C 4: 45,027,473 (GRCm39) probably null Het
Psmd11 T C 11: 80,351,493 (GRCm39) Y239H probably damaging Het
Ripor2 A T 13: 24,885,610 (GRCm39) D576V probably damaging Het
Rundc3a C T 11: 102,291,489 (GRCm39) T327I probably damaging Het
Sh3rf1 A G 8: 61,825,609 (GRCm39) T535A probably benign Het
Slc13a2 T A 11: 78,295,563 (GRCm39) E101V probably damaging Het
Tg A T 15: 66,553,802 (GRCm39) T406S probably benign Het
Tjp2 T C 19: 24,090,215 (GRCm39) E609G probably damaging Het
Zfp459 G A 13: 67,556,853 (GRCm39) P77S possibly damaging Het
Zfp612 A G 8: 110,816,049 (GRCm39) K380E probably damaging Het
Zfp629 T C 7: 127,210,228 (GRCm39) E527G 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
R0144:Btnl6 UTSW 17 34,732,994 (GRCm39) missense probably benign 0.29
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
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'- ACCTTCAGTTCCAAGATGGC -3'
(R):5'- TGCACTGCTAGGTCCAAAGG -3'

Sequencing Primer
(F):5'- GTTCCAAGATGGCCTCTTCATAGAAC -3'
(R):5'- CCACAGAGGAGTTCCAGGTCTTTG -3'
Posted On 2015-01-11