Incidental Mutation 'R1283:Btn2a2'
ID 151093
Institutional Source Beutler Lab
Gene Symbol Btn2a2
Ensembl Gene ENSMUSG00000053216
Gene Name butyrophilin, subfamily 2, member A2
Synonyms
MMRRC Submission 039349-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1283 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 23661846-23673027 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23663002 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 316 (V316A)
Ref Sequence ENSEMBL: ENSMUSP00000048251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041541] [ENSMUST00000110432] [ENSMUST00000110433] [ENSMUST00000223877]
AlphaFold A4QPC6
Predicted Effect probably damaging
Transcript: ENSMUST00000041541
AA Change: V316A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048251
Gene: ENSMUSG00000053216
AA Change: V316A

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 possibly damaging
Transcript: ENSMUST00000110432
AA Change: V316A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106062
Gene: ENSMUSG00000053216
AA Change: V316A

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 possibly damaging
Transcript: ENSMUST00000110433
AA Change: V316A

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106063
Gene: ENSMUSG00000053216
AA Change: V316A

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 possibly damaging
Transcript: ENSMUST00000223877
AA Change: V307A

PolyPhen 2 Score 0.776 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.4%
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T A 2: 25,336,701 (GRCm39) I2269N probably damaging Het
Ap4b1 T A 3: 103,726,177 (GRCm39) V251E probably damaging Het
Fbxw15 G A 9: 109,387,314 (GRCm39) S227F probably damaging Het
Fdxacb1 A G 9: 50,679,994 (GRCm39) E60G possibly damaging Het
Gins3 A G 8: 96,364,574 (GRCm39) D108G probably damaging Het
Gsdmc2 T C 15: 63,696,906 (GRCm39) I422V probably damaging Het
Impg2 TACCACCACCACCACCACCACCACCA TACCACCACCACCACCACCACCA 16: 56,078,302 (GRCm39) probably benign Het
Lamb2 A G 9: 108,359,007 (GRCm39) N241S possibly damaging Het
Mfsd12 T C 10: 81,197,269 (GRCm39) V254A probably benign Het
Mgst3 A G 1: 167,205,865 (GRCm39) V38A possibly damaging Het
Myh13 A T 11: 67,261,747 (GRCm39) E1890V probably damaging Het
Or52n20 A G 7: 104,320,150 (GRCm39) I80M possibly damaging Het
Rab11fip3 G T 17: 26,223,528 (GRCm39) D800E probably damaging Het
Scn8a T C 15: 100,867,052 (GRCm39) I286T possibly damaging Het
Slc25a44 T C 3: 88,327,885 (GRCm39) Y183C probably damaging Het
Tmem170b T C 13: 41,781,471 (GRCm39) F39L possibly damaging Het
Trpt1 T A 19: 6,975,696 (GRCm39) L150* probably null 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
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'- AGGGCTCGATACTGGCTTCCAAAC -3'
(R):5'- TCCTTCTTTGAAAAGGCCACCACAC -3'

Sequencing Primer
(F):5'- GGTCCAGAAGCCATTCTGAG -3'
(R):5'- CAGAAGACTCCCACATCAGCTC -3'
Posted On 2014-01-29