Incidental Mutation 'IGL03221:Btn2a2'
ID413642
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 #IGL03221
Quality Score
Status
Chromosome13
Chromosomal Location23477676-23488857 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23478449 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 435 (S435P)
Ref Sequence ENSEMBL: ENSMUSP00000153680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041541] [ENSMUST00000110432] [ENSMUST00000110433] [ENSMUST00000223877]
Predicted Effect probably benign
Transcript: ENSMUST00000041541
SMART Domains Protein: ENSMUSP00000048251
Gene: ENSMUSG00000053216

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: S444P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106062
Gene: ENSMUSG00000053216
AA Change: S444P

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: S444P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106063
Gene: ENSMUSG00000053216
AA Change: S444P

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: S435P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b2 C T 6: 113,760,859 probably benign Het
BC051665 T A 13: 60,784,428 K116* probably null Het
Birc6 A T 17: 74,627,007 T2538S probably benign Het
Efhb A G 17: 53,398,986 L841P probably damaging Het
Etv4 C T 11: 101,774,162 R155K probably damaging Het
Fam126b C A 1: 58,540,186 V231L probably benign Het
Fnbp4 T A 2: 90,777,718 M928K possibly damaging Het
Grin2c A G 11: 115,254,044 probably benign Het
Grip1 A T 10: 119,986,394 M342L probably benign Het
H60c T A 10: 3,259,799 K163* probably null Het
Lilr4b A G 10: 51,481,428 probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mast4 A G 13: 102,754,256 V838A possibly damaging Het
Mypn C A 10: 63,131,123 D925Y probably damaging Het
Nol6 T C 4: 41,124,166 D27G probably benign Het
Olfr1202 T C 2: 88,817,437 S89P possibly damaging Het
Olfr1447 G T 19: 12,901,541 P80T probably damaging Het
Olfr916 A T 9: 38,658,365 V9E probably damaging Het
Pik3c2g A G 6: 139,772,407 probably null Het
Pik3c3 G T 18: 30,302,931 M394I probably benign Het
Rfx7 C T 9: 72,618,806 R1093C probably damaging Het
Scin A G 12: 40,076,974 V458A probably benign Het
Slc34a1 T C 13: 55,400,778 V39A probably benign Het
Slc6a4 A G 11: 77,027,105 M558V probably benign Het
Smpx T C X: 157,720,998 V65A probably damaging Het
Tmem200a A T 10: 25,994,024 F116I possibly damaging Het
Tnfrsf19 A T 14: 61,024,778 V12E probably benign Het
Trpc1 C T 9: 95,706,900 R757H probably damaging Het
Ttc38 T A 15: 85,834,541 S51T probably benign Het
Wee1 G A 7: 110,126,817 C378Y probably damaging 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
IGL02720:Btn2a2 APN 13 23480467 missense probably benign 0.15
IGL02738:Btn2a2 APN 13 23478806 nonsense probably null
IGL03010:Btn2a2 APN 13 23486205 nonsense probably null
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 On2016-08-02