Incidental Mutation 'R6006:Btn2a2'
ID 479497
Institutional Source Beutler Lab
Gene Symbol Btn2a2
Ensembl Gene ENSMUSG00000053216
Gene Name butyrophilin, subfamily 2, member A2
Synonyms
MMRRC Submission 044183-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6006 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 23661846-23673027 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 23670533 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 67 (W67R)
Ref Sequence ENSEMBL: ENSMUSP00000153680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041541] [ENSMUST00000110432] [ENSMUST00000110433] [ENSMUST00000223877]
AlphaFold A4QPC6
Predicted Effect probably damaging
Transcript: ENSMUST00000041541
AA Change: W67R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048251
Gene: ENSMUSG00000053216
AA Change: W67R

DomainStartEndE-ValueType
low complexity region 14 28 N/A INTRINSIC
IG 37 144 9.12e-7 SMART
Pfam:C2-set_2 148 231 3.3e-8 PFAM
transmembrane domain 250 272 N/A INTRINSIC
coiled coil region 276 304 N/A INTRINSIC
PRY 312 364 1.87e-27 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110432
AA Change: W67R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106062
Gene: ENSMUSG00000053216
AA Change: W67R

DomainStartEndE-ValueType
low complexity region 14 28 N/A INTRINSIC
IG 37 144 9.12e-7 SMART
Blast:IG_like 151 211 1e-29 BLAST
transmembrane domain 250 272 N/A INTRINSIC
coiled coil region 276 304 N/A INTRINSIC
PRY 312 364 1.87e-27 SMART
SPRY 365 485 3.56e-34 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000110433
AA Change: W67R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106063
Gene: ENSMUSG00000053216
AA Change: W67R

DomainStartEndE-ValueType
low complexity region 14 28 N/A INTRINSIC
IG 37 144 9.12e-7 SMART
Pfam:C2-set_2 148 231 1.2e-8 PFAM
transmembrane domain 250 272 N/A INTRINSIC
coiled coil region 276 304 N/A INTRINSIC
PRY 312 364 1.87e-27 SMART
SPRY 365 485 3.56e-34 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000223877
AA Change: W67R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.3%
  • 20x: 91.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 A G 8: 124,694,804 (GRCm39) I296T probably benign Het
Abcb4 C A 5: 8,996,026 (GRCm39) T894K probably damaging Het
Acad12 C T 5: 121,737,299 (GRCm39) V491I possibly damaging Het
Actr8 T A 14: 29,706,099 (GRCm39) probably null Het
Adam7 A C 14: 68,748,845 (GRCm39) D467E probably damaging Het
Adamts18 A T 8: 114,433,606 (GRCm39) C1043S probably damaging Het
Adgrb3 T G 1: 25,865,612 (GRCm39) D77A possibly damaging Het
Arhgap20 T A 9: 51,761,426 (GRCm39) D1056E probably benign Het
Bco1 A G 8: 117,840,330 (GRCm39) probably null Het
Camkmt A T 17: 85,759,666 (GRCm39) N269Y possibly damaging Het
Cand1 A G 10: 119,045,933 (GRCm39) F991L possibly damaging Het
Cchcr1 A G 17: 35,835,597 (GRCm39) K234E possibly damaging Het
Cd14 T C 18: 36,859,335 (GRCm39) D40G possibly damaging Het
Cdc73 A T 1: 143,493,177 (GRCm39) F386I probably damaging Het
Cdk14 C T 5: 5,299,211 (GRCm39) M1I probably null Het
Cnpy3 A C 17: 47,047,790 (GRCm39) S220A probably benign Het
Col22a1 A G 15: 71,845,685 (GRCm39) V359A probably damaging Het
Col6a3 C A 1: 90,696,105 (GRCm39) C2654F unknown Het
Colgalt2 A G 1: 152,348,912 (GRCm39) T186A probably damaging Het
Cpsf4l A G 11: 113,590,753 (GRCm39) V199A probably benign Het
Dhtkd1 G A 2: 5,908,836 (GRCm39) Q753* probably null Het
Ep400 A G 5: 110,852,825 (GRCm39) S1307P unknown Het
Fer1l6 T C 15: 58,518,893 (GRCm39) V1675A probably damaging Het
Glis1 T C 4: 107,425,103 (GRCm39) L238P probably damaging Het
Ift70a1 A G 2: 75,811,832 (GRCm39) Y84H probably benign Het
Iqgap3 T A 3: 87,998,854 (GRCm39) D318E probably damaging Het
Lats1 T C 10: 7,581,359 (GRCm39) F715L probably damaging Het
Mlxip T C 5: 123,583,721 (GRCm39) F428S possibly damaging Het
Morc3 T G 16: 93,663,381 (GRCm39) I528R possibly damaging Het
Mtx1 C T 3: 89,117,613 (GRCm39) G60D probably damaging Het
Mug2 G C 6: 122,060,459 (GRCm39) Q1398H probably null Het
Mup8 T C 4: 60,220,403 (GRCm39) I110V probably benign Het
Nfkb1 A T 3: 135,309,522 (GRCm39) L12* probably null Het
Numa1 G A 7: 101,641,926 (GRCm39) probably null Het
Or52e18 T G 7: 104,609,870 (GRCm39) E23A probably damaging Het
Pbk C T 14: 66,054,094 (GRCm39) P213L probably damaging Het
Pdcd1lg2 T A 19: 29,431,905 (GRCm39) H224Q possibly damaging Het
Pkp1 C G 1: 135,805,406 (GRCm39) probably null Het
Rela A G 19: 5,689,967 (GRCm39) N139S probably damaging Het
Rgs3 G A 4: 62,542,143 (GRCm39) R39Q probably damaging Het
S1pr3 A G 13: 51,573,731 (GRCm39) E304G probably damaging Het
Sertad2 G A 11: 20,597,884 (GRCm39) G27S probably benign Het
Setmar T C 6: 108,053,387 (GRCm39) S294P possibly damaging Het
Smc2 A G 4: 52,459,024 (GRCm39) N473S probably benign Het
Ssr1 TCTCTTTC T 13: 38,169,972 (GRCm39) probably null Het
Tigd2 A G 6: 59,187,762 (GRCm39) I210V possibly damaging Het
Tmprss9 T A 10: 80,719,555 (GRCm39) F93L possibly damaging Het
U2surp T C 9: 95,361,360 (GRCm39) Y633C probably damaging Het
Usp18 A T 6: 121,239,781 (GRCm39) E292V possibly damaging Het
Usp32 A C 11: 84,883,277 (GRCm39) probably null Het
Utp18 T C 11: 93,776,449 (GRCm39) D12G probably benign Het
Vmn1r216 C A 13: 23,283,928 (GRCm39) H204N probably benign Het
Wdr97 T C 15: 76,241,372 (GRCm39) V626A probably damaging Het
Wwc1 A T 11: 35,761,809 (GRCm39) V619E probably null Het
Wwc1 T C 11: 35,780,100 (GRCm39) D285G probably damaging Het
Zfp3 A T 11: 70,662,590 (GRCm39) Q183L probably benign Het
Zfp955a A G 17: 33,460,660 (GRCm39) C491R probably damaging Het
Other mutations in Btn2a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Btn2a2 APN 13 23,662,746 (GRCm39) missense probably damaging 1.00
IGL00740:Btn2a2 APN 13 23,662,655 (GRCm39) missense probably benign
IGL02053:Btn2a2 APN 13 23,662,990 (GRCm39) missense probably damaging 1.00
IGL02720:Btn2a2 APN 13 23,664,637 (GRCm39) missense probably benign 0.15
IGL02738:Btn2a2 APN 13 23,662,976 (GRCm39) nonsense probably null
IGL03010:Btn2a2 APN 13 23,670,375 (GRCm39) nonsense probably null
IGL03221:Btn2a2 APN 13 23,662,619 (GRCm39) missense probably damaging 1.00
R0066:Btn2a2 UTSW 13 23,662,655 (GRCm39) missense probably benign 0.01
R0066:Btn2a2 UTSW 13 23,662,655 (GRCm39) missense probably benign 0.01
R0597:Btn2a2 UTSW 13 23,670,580 (GRCm39) missense probably benign 0.12
R0749:Btn2a2 UTSW 13 23,662,568 (GRCm39) makesense probably null
R1209:Btn2a2 UTSW 13 23,664,736 (GRCm39) critical splice donor site probably null
R1283:Btn2a2 UTSW 13 23,663,002 (GRCm39) missense probably damaging 0.98
R1718:Btn2a2 UTSW 13 23,666,106 (GRCm39) missense probably benign 0.01
R2925:Btn2a2 UTSW 13 23,665,984 (GRCm39) missense probably damaging 1.00
R3824:Btn2a2 UTSW 13 23,664,635 (GRCm39) missense probably benign 0.02
R5281:Btn2a2 UTSW 13 23,663,002 (GRCm39) missense probably damaging 0.98
R5356:Btn2a2 UTSW 13 23,667,045 (GRCm39) missense probably benign 0.02
R5482:Btn2a2 UTSW 13 23,670,557 (GRCm39) missense probably benign 0.03
R5535:Btn2a2 UTSW 13 23,662,445 (GRCm39) missense probably benign 0.14
R5629:Btn2a2 UTSW 13 23,666,130 (GRCm39) splice site probably null
R5930:Btn2a2 UTSW 13 23,670,398 (GRCm39) missense probably damaging 0.96
R5952:Btn2a2 UTSW 13 23,666,978 (GRCm39) missense probably benign 0.09
R6196:Btn2a2 UTSW 13 23,672,015 (GRCm39) missense possibly damaging 0.74
R6373:Btn2a2 UTSW 13 23,665,999 (GRCm39) missense probably benign 0.00
R6533:Btn2a2 UTSW 13 23,665,951 (GRCm39) nonsense probably null
R6891:Btn2a2 UTSW 13 23,667,014 (GRCm39) missense probably benign 0.10
R7468:Btn2a2 UTSW 13 23,666,933 (GRCm39) missense probably benign 0.39
R7814:Btn2a2 UTSW 13 23,666,976 (GRCm39) missense possibly damaging 0.49
R8098:Btn2a2 UTSW 13 23,666,058 (GRCm39) missense probably benign
R8215:Btn2a2 UTSW 13 23,666,040 (GRCm39) missense probably damaging 0.97
R8996:Btn2a2 UTSW 13 23,662,831 (GRCm39) missense probably damaging 1.00
R9106:Btn2a2 UTSW 13 23,662,465 (GRCm39) missense probably benign 0.00
R9309:Btn2a2 UTSW 13 23,662,981 (GRCm39) missense probably damaging 1.00
R9544:Btn2a2 UTSW 13 23,672,008 (GRCm39) missense probably benign 0.02
R9564:Btn2a2 UTSW 13 23,662,848 (GRCm39) missense possibly damaging 0.88
R9565:Btn2a2 UTSW 13 23,662,848 (GRCm39) missense possibly damaging 0.88
R9708:Btn2a2 UTSW 13 23,662,907 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TAAGCTTCATGGTTGCCTGG -3'
(R):5'- AACCTCATGAGTTAAGTGAAACAGC -3'

Sequencing Primer
(F):5'- TGCCTTCCTGGAAGTAACAG -3'
(R):5'- GTGAAACAGCTATAGTTCCTGTCTG -3'
Posted On 2017-06-26