Incidental Mutation 'R0749:Btn2a2'
ID 70261
Institutional Source Beutler Lab
Gene Symbol Btn2a2
Ensembl Gene ENSMUSG00000053216
Gene Name butyrophilin, subfamily 2, member A2
Synonyms
MMRRC Submission 038929-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0749 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 23661846-23673027 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 23662568 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 418 (*418W)
Ref Sequence ENSEMBL: ENSMUSP00000048251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041541] [ENSMUST00000110432] [ENSMUST00000110433] [ENSMUST00000223877]
AlphaFold A4QPC6
Predicted Effect probably null
Transcript: ENSMUST00000041541
AA Change: *418W
SMART Domains Protein: ENSMUSP00000048251
Gene: ENSMUSG00000053216
AA Change: *418W

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 benign
Transcript: ENSMUST00000110432
AA Change: T461A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106062
Gene: ENSMUSG00000053216
AA Change: T461A

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 benign
Transcript: ENSMUST00000110433
AA Change: T461A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106063
Gene: ENSMUSG00000053216
AA Change: T461A

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 benign
Transcript: ENSMUST00000223877
AA Change: T452A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.5%
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aprt A T 8: 123,302,149 (GRCm39) Y105N probably damaging Het
Atxn2l A T 7: 126,100,009 (GRCm39) S109T possibly damaging Het
Bbs9 T C 9: 22,486,497 (GRCm39) probably null Het
Bmp4 T C 14: 46,622,070 (GRCm39) E158G probably damaging Het
Cpt1c A G 7: 44,612,250 (GRCm39) Y494H probably damaging Het
Cyp3a16 T A 5: 145,392,987 (GRCm39) probably null Het
Dpy19l1 T A 9: 24,373,880 (GRCm39) H270L probably benign Het
Fdxr A G 11: 115,167,671 (GRCm39) S15P probably benign Het
Gm8688 T G 8: 100,391,152 (GRCm39) noncoding transcript Het
Golph3l G A 3: 95,515,260 (GRCm39) R134Q probably damaging Het
Hmgxb4 A G 8: 75,727,565 (GRCm39) T183A probably damaging Het
Krt1c T G 15: 101,726,098 (GRCm39) S147R unknown Het
Lipn T C 19: 34,054,379 (GRCm39) S206P probably damaging Het
Mcpt2 A G 14: 56,281,136 (GRCm39) probably null Het
Metap2 T C 10: 93,715,429 (GRCm39) E133G probably benign Het
Nuak1 T C 10: 84,210,648 (GRCm39) Y480C probably damaging Het
Oma1 C T 4: 103,182,496 (GRCm39) Q300* probably null Het
Pcnt T C 10: 76,217,198 (GRCm39) E2161G probably damaging Het
Pkdrej G T 15: 85,702,275 (GRCm39) D1220E probably benign Het
Ptdss1 T A 13: 67,135,914 (GRCm39) C390* probably null Het
Sars1 A C 3: 108,335,582 (GRCm39) F389V possibly damaging Het
Sec31b C T 19: 44,512,945 (GRCm39) V515M probably damaging Het
Syt3 A G 7: 44,048,571 (GRCm39) E587G probably benign Het
Tjp2 T C 19: 24,099,636 (GRCm39) E417G possibly damaging Het
Tmem63b A G 17: 45,977,041 (GRCm39) F442S possibly damaging Het
Togaram1 A G 12: 65,029,472 (GRCm39) D965G possibly damaging Het
Zmynd10 T C 9: 107,425,882 (GRCm39) V72A 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
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
R6006:Btn2a2 UTSW 13 23,670,533 (GRCm39) missense probably damaging 1.00
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'- AGCAATAGTCCCCTAAGACTGGCTC -3'
(R):5'- AATGGCTTCTGGACCCTGGAGATG -3'

Sequencing Primer
(F):5'- ATGCTCCATGTGATCTGAAGGAC -3'
(R):5'- ACCCTGGAGATGTTTGGAAGC -3'
Posted On 2013-09-30