Incidental Mutation 'IGL02720:Btn2a2'
ID304947
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Btn2a2
Ensembl Gene ENSMUSG00000053216
Gene Namebutyrophilin, subfamily 2, member A2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02720
Quality Score
Status
Chromosome13
Chromosomal Location23477676-23488857 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 23480467 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 307 (R307Q)
Ref Sequence ENSEMBL: ENSMUSP00000048251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041541] [ENSMUST00000110432] [ENSMUST00000110433] [ENSMUST00000223877]
Predicted Effect probably benign
Transcript: ENSMUST00000041541
AA Change: R307Q

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000048251
Gene: ENSMUSG00000053216
AA Change: R307Q

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: R307Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106062
Gene: ENSMUSG00000053216
AA Change: R307Q

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: R307Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106063
Gene: ENSMUSG00000053216
AA Change: R307Q

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
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,122,703 probably benign Het
Adgrv1 A G 13: 81,578,872 S454P probably damaging Het
Adh4 A T 3: 138,419,220 I51F possibly damaging Het
Amigo2 A T 15: 97,245,697 C281* probably null Het
C2cd6 T C 1: 59,051,148 I483M probably damaging Het
Capn9 T C 8: 124,600,497 probably benign Het
Carmil3 A G 14: 55,507,410 K1279E probably damaging Het
Cdadc1 T C 14: 59,586,047 Y332C probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cep112 T G 11: 108,859,351 F893L probably damaging Het
Cit A G 5: 115,995,452 S1867G probably benign Het
Clptm1l T C 13: 73,614,602 probably benign Het
Cyp4a12b A T 4: 115,435,171 probably benign Het
Dlx3 G T 11: 95,123,644 W251L possibly damaging Het
Dnah1 C T 14: 31,262,220 V3993M probably damaging Het
Efs A T 14: 54,919,715 Y380N probably damaging Het
Fam53c T A 18: 34,770,667 W331R probably damaging Het
Gm5414 T C 15: 101,625,555 E331G probably damaging Het
Gstcd A G 3: 133,071,961 V363A probably benign Het
Jak1 A G 4: 101,164,450 probably benign Het
Kifc3 A G 8: 95,108,365 V264A probably benign Het
Mapk8ip2 A G 15: 89,457,582 D332G probably damaging Het
Nbeal1 G A 1: 60,283,987 E2075K probably damaging Het
Olfr553 C T 7: 102,614,839 G50E probably damaging Het
Opn5 T G 17: 42,596,626 S120R probably damaging Het
Paqr8 C T 1: 20,935,509 Q296* probably null Het
Pcsk6 C T 7: 65,980,247 R374* probably null Het
Pld1 A G 3: 28,087,262 H469R probably damaging Het
Rbl1 A G 2: 157,199,429 S93P possibly damaging Het
Reln C T 5: 21,997,941 R1287Q probably damaging Het
Rev3l C T 10: 39,822,395 R963* probably null Het
Serinc4 C T 2: 121,452,427 S418N probably benign Het
Slc6a18 A G 13: 73,669,968 M310T probably benign Het
Slitrk3 T A 3: 73,050,768 S224C probably damaging Het
Slu7 T C 11: 43,445,203 I471T probably benign Het
Stxbp5 A G 10: 9,789,361 probably null Het
Tm7sf3 A T 6: 146,613,374 probably benign Het
Trem1 C T 17: 48,232,841 S16L probably benign Het
Trp53bp2 T A 1: 182,453,724 D963E probably benign Het
Trp63 A T 16: 25,863,741 D184V probably damaging Het
Ttll6 T C 11: 96,152,073 probably null Het
Usp32 A G 11: 85,006,991 probably null Het
Vmn2r14 A T 5: 109,221,439 N89K probably damaging Het
Vmn2r76 T C 7: 86,225,706 R688G probably benign Het
Vmn2r93 A T 17: 18,305,034 H318L probably damaging Het
Vstm4 A G 14: 32,863,617 H47R probably damaging Het
Wdr55 A G 18: 36,763,382 E375G probably benign Het
Ybx2 T A 11: 69,940,331 S56T probably benign Het
Ybx2 C A 11: 69,940,332 S251Y probably benign Het
Zbtb3 T C 19: 8,804,214 probably null Het
Other mutations in Btn2a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Btn2a2 APN 13 23478576 missense probably damaging 1.00
IGL00740:Btn2a2 APN 13 23478485 missense probably benign
IGL02053:Btn2a2 APN 13 23478820 missense probably damaging 1.00
IGL02738:Btn2a2 APN 13 23478806 nonsense probably null
IGL03010:Btn2a2 APN 13 23486205 nonsense probably null
IGL03221:Btn2a2 APN 13 23478449 missense probably damaging 1.00
R0066:Btn2a2 UTSW 13 23478485 missense probably benign 0.01
R0066:Btn2a2 UTSW 13 23478485 missense probably benign 0.01
R0597:Btn2a2 UTSW 13 23486410 missense probably benign 0.12
R0749:Btn2a2 UTSW 13 23478398 makesense probably null
R1209:Btn2a2 UTSW 13 23480566 critical splice donor site probably null
R1283:Btn2a2 UTSW 13 23478832 missense probably damaging 0.98
R1718:Btn2a2 UTSW 13 23481936 missense probably benign 0.01
R2925:Btn2a2 UTSW 13 23481814 missense probably damaging 1.00
R3824:Btn2a2 UTSW 13 23480465 missense probably benign 0.02
R5281:Btn2a2 UTSW 13 23478832 missense probably damaging 0.98
R5356:Btn2a2 UTSW 13 23482875 missense probably benign 0.02
R5482:Btn2a2 UTSW 13 23486387 missense probably benign 0.03
R5535:Btn2a2 UTSW 13 23478275 missense probably benign 0.14
R5629:Btn2a2 UTSW 13 23481960 splice site probably null
R5930:Btn2a2 UTSW 13 23486228 missense probably damaging 0.96
R5952:Btn2a2 UTSW 13 23482808 missense probably benign 0.09
R6006:Btn2a2 UTSW 13 23486363 missense probably damaging 1.00
R6196:Btn2a2 UTSW 13 23487845 missense possibly damaging 0.74
R6373:Btn2a2 UTSW 13 23481829 missense probably benign 0.00
R6533:Btn2a2 UTSW 13 23481781 nonsense probably null
R6891:Btn2a2 UTSW 13 23482844 missense probably benign 0.10
R7468:Btn2a2 UTSW 13 23482763 missense probably benign 0.39
R7814:Btn2a2 UTSW 13 23482806 missense possibly damaging 0.49
Posted On2015-04-16