Incidental Mutation 'R5490:Btnl9'
ID 432048
Institutional Source Beutler Lab
Gene Symbol Btnl9
Ensembl Gene ENSMUSG00000040283
Gene Name butyrophilin-like 9
Synonyms D330012D11Rik
MMRRC Submission 043051-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R5490 (G1)
Quality Score 102
Status Not validated
Chromosome 11
Chromosomal Location 49059152-49077916 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49060395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 451 (E451G)
Ref Sequence ENSEMBL: ENSMUSP00000066598 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046522] [ENSMUST00000066531]
AlphaFold Q8BJE2
Predicted Effect possibly damaging
Transcript: ENSMUST00000046522
AA Change: E366G

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000046229
Gene: ENSMUSG00000040283
AA Change: E366G

DomainStartEndE-ValueType
IG 44 151 1.24e-8 SMART
Pfam:Ig_2 155 243 9.2e-3 PFAM
Pfam:C2-set_2 156 238 1.7e-9 PFAM
transmembrane domain 259 281 N/A INTRINSIC
PRY 324 377 8.68e-14 SMART
SPRY 378 503 1.3e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000066531
AA Change: E451G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066598
Gene: ENSMUSG00000040283
AA Change: E451G

DomainStartEndE-ValueType
IG 44 151 1.24e-8 SMART
Pfam:Ig_3 155 231 1e-4 PFAM
Pfam:C2-set_2 156 238 2.2e-6 PFAM
transmembrane domain 360 382 N/A INTRINSIC
PRY 419 462 3.61e-2 SMART
SPRY 463 588 1.3e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131363
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf C T 11: 84,401,099 (GRCm39) G174D probably damaging Het
Abcc1 G T 16: 14,228,781 (GRCm39) G343C probably damaging Het
Asic2 T C 11: 80,780,646 (GRCm39) N370S probably benign Het
Cblb A G 16: 51,994,733 (GRCm39) H658R possibly damaging Het
Cdca2 T C 14: 67,917,733 (GRCm39) E555G possibly damaging Het
Chfr A G 5: 110,300,995 (GRCm39) S299G possibly damaging Het
Eea1 A G 10: 95,861,916 (GRCm39) E741G probably benign Het
Gapvd1 T C 2: 34,583,445 (GRCm39) D1057G probably benign Het
Glyat C T 19: 12,627,645 (GRCm39) T80M probably benign Het
Gpr87 T C 3: 59,086,747 (GRCm39) S253G probably damaging Het
Hapstr1 T A 16: 8,673,721 (GRCm39) V216E probably damaging Het
Hmgxb3 A G 18: 61,296,049 (GRCm39) S320P probably damaging Het
Kcnq5 C T 1: 21,549,692 (GRCm39) G345D probably damaging Het
Kif5c T C 2: 49,648,870 (GRCm39) V938A probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Madd G T 2: 91,000,980 (GRCm39) T467K possibly damaging Het
Mamdc4 T C 2: 25,455,890 (GRCm39) D706G probably damaging Het
Map2 A G 1: 66,452,292 (GRCm39) H476R probably damaging Het
Mgat4f A G 1: 134,317,666 (GRCm39) D146G probably damaging Het
Mpeg1 T C 19: 12,439,057 (GRCm39) S172P probably damaging Het
Nkx2-3 A T 19: 43,601,093 (GRCm39) T52S probably benign Het
Nup210 C T 6: 91,062,970 (GRCm39) V230I probably damaging Het
Or1j19 T A 2: 36,677,193 (GRCm39) Y219N probably damaging Het
Or51f2 T C 7: 102,527,100 (GRCm39) S258P probably damaging Het
Or5g9 G T 2: 85,552,666 (GRCm39) A306S probably benign Het
Pepd A G 7: 34,642,115 (GRCm39) probably null Het
Ppp1r36 T A 12: 76,484,760 (GRCm39) W238R probably damaging Het
Ppp1r36 G T 12: 76,484,761 (GRCm39) W238L possibly damaging Het
Prpf6 T G 2: 181,249,958 (GRCm39) D39E probably benign Het
Rassf5 T A 1: 131,108,932 (GRCm39) Q163L possibly damaging Het
Rbm43 T A 2: 51,815,607 (GRCm39) T205S probably benign Het
Relch T A 1: 105,647,226 (GRCm39) V672D probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sds C A 5: 120,621,715 (GRCm39) Q286K possibly damaging Het
Slc35a3 A T 3: 116,474,839 (GRCm39) C184* probably null Het
Smg1 G A 7: 117,738,659 (GRCm39) T3530I possibly damaging Het
Sspo T C 6: 48,470,214 (GRCm39) V591A probably benign Het
Stam2 T C 2: 52,610,929 (GRCm39) D31G probably damaging Het
Star A G 8: 26,299,945 (GRCm39) K96E probably damaging Het
Syne3 A G 12: 104,921,931 (GRCm39) L495P probably damaging Het
Tceanc2 A T 4: 107,022,846 (GRCm39) M47K probably benign Het
Tecpr2 T C 12: 110,881,118 (GRCm39) L85P probably damaging Het
Tmem241 C T 18: 12,176,320 (GRCm39) R116K probably benign Het
Yipf2 G A 9: 21,503,487 (GRCm39) A20V probably benign Het
Zc3h4 T A 7: 16,162,930 (GRCm39) D443E unknown Het
Zfp184 T A 13: 22,142,747 (GRCm39) V151D probably benign Het
Zhx1 T C 15: 57,916,695 (GRCm39) Y517C probably damaging Het
Other mutations in Btnl9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Btnl9 APN 11 49,066,518 (GRCm39) missense probably damaging 1.00
IGL01923:Btnl9 APN 11 49,071,409 (GRCm39) missense probably benign 0.00
IGL02129:Btnl9 APN 11 49,060,100 (GRCm39) missense probably damaging 1.00
IGL02248:Btnl9 APN 11 49,071,625 (GRCm39) missense probably benign 0.27
IGL02795:Btnl9 APN 11 49,065,694 (GRCm39) splice site probably benign
IGL02889:Btnl9 APN 11 49,069,604 (GRCm39) missense probably damaging 1.00
IGL02796:Btnl9 UTSW 11 49,060,008 (GRCm39) missense probably damaging 0.99
R0084:Btnl9 UTSW 11 49,069,606 (GRCm39) missense possibly damaging 0.91
R0362:Btnl9 UTSW 11 49,060,443 (GRCm39) missense possibly damaging 0.73
R0417:Btnl9 UTSW 11 49,066,422 (GRCm39) missense probably damaging 1.00
R1199:Btnl9 UTSW 11 49,071,574 (GRCm39) missense probably damaging 1.00
R1260:Btnl9 UTSW 11 49,060,371 (GRCm39) missense probably damaging 0.98
R1802:Btnl9 UTSW 11 49,066,617 (GRCm39) missense probably benign 0.06
R2000:Btnl9 UTSW 11 49,059,948 (GRCm39) missense probably benign 0.04
R2068:Btnl9 UTSW 11 49,060,390 (GRCm39) missense probably damaging 0.98
R2130:Btnl9 UTSW 11 49,071,523 (GRCm39) missense probably damaging 0.99
R2142:Btnl9 UTSW 11 49,061,453 (GRCm39) splice site probably null
R2229:Btnl9 UTSW 11 49,059,945 (GRCm39) missense probably damaging 1.00
R2255:Btnl9 UTSW 11 49,060,143 (GRCm39) nonsense probably null
R2386:Btnl9 UTSW 11 49,069,602 (GRCm39) missense probably damaging 1.00
R3177:Btnl9 UTSW 11 49,060,503 (GRCm39) missense probably damaging 1.00
R3277:Btnl9 UTSW 11 49,060,503 (GRCm39) missense probably damaging 1.00
R3835:Btnl9 UTSW 11 49,071,512 (GRCm39) missense probably damaging 1.00
R5287:Btnl9 UTSW 11 49,060,434 (GRCm39) missense probably benign 0.20
R5352:Btnl9 UTSW 11 49,069,667 (GRCm39) missense probably benign 0.01
R5433:Btnl9 UTSW 11 49,066,830 (GRCm39) intron probably benign
R5576:Btnl9 UTSW 11 49,069,712 (GRCm39) missense probably benign 0.00
R6008:Btnl9 UTSW 11 49,073,792 (GRCm39) critical splice donor site probably null
R6770:Btnl9 UTSW 11 49,066,392 (GRCm39) splice site probably null
R7126:Btnl9 UTSW 11 49,060,082 (GRCm39) missense probably damaging 1.00
R7276:Btnl9 UTSW 11 49,066,617 (GRCm39) missense probably benign 0.06
R7787:Btnl9 UTSW 11 49,066,866 (GRCm39) missense unknown
R7923:Btnl9 UTSW 11 49,071,565 (GRCm39) missense probably damaging 0.97
R8050:Btnl9 UTSW 11 49,066,442 (GRCm39) missense probably benign 0.25
R8558:Btnl9 UTSW 11 49,071,619 (GRCm39) missense probably benign 0.00
R8788:Btnl9 UTSW 11 49,066,614 (GRCm39) missense probably benign 0.03
R8945:Btnl9 UTSW 11 49,065,661 (GRCm39) missense probably benign 0.38
R9105:Btnl9 UTSW 11 49,066,461 (GRCm39) missense probably benign 0.29
R9656:Btnl9 UTSW 11 49,060,008 (GRCm39) missense probably damaging 0.99
X0026:Btnl9 UTSW 11 49,060,068 (GRCm39) missense probably damaging 1.00
Z1192:Btnl9 UTSW 11 49,066,805 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AAGAAAGACAGCTTCCCGGC -3'
(R):5'- TTTCTGAACCTTCCTCAGTAGG -3'

Sequencing Primer
(F):5'- AAGTACTCGCAGCGGTTC -3'
(R):5'- TGAACCTTCCTCAGTAGGTACTAAC -3'
Posted On 2016-10-05