Incidental Mutation 'IGL03010:Btn2a2'
ID407726
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? Probably non essential (E-score: 0.137) question?
Stock #IGL03010
Quality Score
Status
Chromosome13
Chromosomal Location23477676-23488857 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 23486205 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 119 (Y119*)
Ref Sequence ENSEMBL: ENSMUSP00000153680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041541] [ENSMUST00000110432] [ENSMUST00000110433] [ENSMUST00000223877]
Predicted Effect probably null
Transcript: ENSMUST00000041541
AA Change: Y119*
SMART Domains Protein: ENSMUSP00000048251
Gene: ENSMUSG00000053216
AA Change: Y119*

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 null
Transcript: ENSMUST00000110432
AA Change: Y119*
SMART Domains Protein: ENSMUSP00000106062
Gene: ENSMUSG00000053216
AA Change: Y119*

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 null
Transcript: ENSMUST00000110433
AA Change: Y119*
SMART Domains Protein: ENSMUSP00000106063
Gene: ENSMUSG00000053216
AA Change: Y119*

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 null
Transcript: ENSMUST00000223877
AA Change: Y119*
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Adamts4 T C 1: 171,251,416 C202R probably damaging Het
Afap1l1 T C 18: 61,743,319 D409G probably benign Het
Atp6v1b2 T C 8: 69,105,882 I334T probably damaging Het
Cct2 T C 10: 117,058,114 D245G probably damaging Het
Ercc2 A G 7: 19,391,566 K486E possibly damaging Het
Fam186b T C 15: 99,280,627 S273G possibly damaging Het
Fbxw24 T A 9: 109,623,610 I106L probably benign Het
Ghrhr T C 6: 55,384,757 I303T probably damaging Het
Habp2 T C 19: 56,311,223 probably null Het
Haus3 T A 5: 34,166,287 E326D probably benign Het
Hdac7 C T 15: 97,793,929 probably null Het
Hectd2 T A 19: 36,615,602 D722E probably benign Het
Il20ra G T 10: 19,749,212 G80W probably damaging Het
Jag1 T C 2: 137,093,198 probably benign Het
Lrp1b A G 2: 42,323,606 S65P possibly damaging Het
Lypd2 A G 15: 74,734,253 I12T probably benign Het
Nat2 T A 8: 67,502,012 L258Q probably damaging Het
Nwd1 T C 8: 72,688,060 probably benign Het
Olfr10 T A 11: 49,318,146 V200E probably damaging Het
Olfr206 A G 16: 59,344,772 probably benign Het
Olfr788 G T 10: 129,472,974 C94F probably damaging Het
Pcdh15 T A 10: 74,385,945 D692E probably damaging Het
Prkcz G T 4: 155,286,805 H134N probably damaging Het
Prmt8 T C 6: 127,729,535 T98A probably benign Het
Rps6kc1 C A 1: 190,911,606 E19* probably null Het
Rrp8 A G 7: 105,734,391 S223P probably benign Het
Sept10 G A 10: 59,170,955 probably benign Het
Serpinb7 T C 1: 107,452,011 probably benign Het
Spaca6 C A 17: 17,838,405 Q72K probably benign Het
Spag1 A G 15: 36,233,273 H712R probably benign Het
Spg11 C A 2: 122,088,320 A943S probably damaging Het
Tmem104 T C 11: 115,243,534 S298P probably benign Het
Ttn A G 2: 76,735,088 I28265T probably damaging Het
Usp33 G T 3: 152,368,596 V360F probably benign Het
Vmn2r113 A G 17: 22,956,064 T550A possibly damaging Het
Zscan4d A T 7: 11,163,143 V128D 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
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
Posted On2016-08-02