Incidental Mutation 'R9708:Btn2a2'
ID 729915
Institutional Source Beutler Lab
Gene Symbol Btn2a2
Ensembl Gene ENSMUSG00000053216
Gene Name butyrophilin, subfamily 2, member A2
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9708 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 23661846-23673027 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 23662907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 348 (P348S)
Ref Sequence ENSEMBL: ENSMUSP00000106062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041541] [ENSMUST00000110432] [ENSMUST00000110433] [ENSMUST00000223877]
AlphaFold A4QPC6
Predicted Effect possibly damaging
Transcript: ENSMUST00000041541
AA Change: P348S

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048251
Gene: ENSMUSG00000053216
AA Change: P348S

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: P348S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106062
Gene: ENSMUSG00000053216
AA Change: P348S

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: P348S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106063
Gene: ENSMUSG00000053216
AA Change: P348S

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: P339S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.1%
  • 20x: 97.6%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 A T 16: 14,254,417 (GRCm39) N576I probably damaging Het
Acss1 G T 2: 150,471,752 (GRCm39) T334K probably damaging Het
Alox5 A G 6: 116,392,537 (GRCm39) L328P probably damaging Het
Armc2 A T 10: 41,839,744 (GRCm39) M407K possibly damaging Het
Asb3 A T 11: 31,051,075 (GRCm39) I471F probably benign Het
Asph G A 4: 9,542,233 (GRCm39) R335W probably damaging Het
B4galnt4 A G 7: 140,647,657 (GRCm39) E415G probably benign Het
Catsper2 A G 2: 121,237,321 (GRCm39) V193A possibly damaging Het
Ccdc112 G A 18: 46,444,780 (GRCm39) A33V probably benign Het
Cfap221 T A 1: 119,860,619 (GRCm39) Y669F probably damaging Het
D030056L22Rik T G 19: 18,690,776 (GRCm39) L30R possibly damaging Het
Fanca C A 8: 124,001,263 (GRCm39) G1091* probably null Het
Foxl1 A G 8: 121,855,077 (GRCm39) D126G possibly damaging Het
Gba1 T C 3: 89,112,801 (GRCm39) S148P probably damaging Het
Gem G A 4: 11,711,154 (GRCm39) R115H possibly damaging Het
Gm4924 T G 10: 82,214,992 (GRCm39) L930R unknown Het
Iqgap3 C A 3: 88,016,176 (GRCm39) F986L probably damaging Het
Irx5 A T 8: 93,087,118 (GRCm39) D350V probably benign Het
Kng2 G T 16: 22,815,801 (GRCm39) P365Q probably damaging Het
Lrp4 A T 2: 91,342,076 (GRCm39) E1896D probably benign Het
Lrrk2 C A 15: 91,634,482 (GRCm39) Y1415* probably null Het
Map2k7 C A 8: 4,295,806 (GRCm39) H429N probably benign Het
Mogat1 T A 1: 78,488,633 (GRCm39) L12Q probably damaging Het
Mov10 C T 3: 104,704,613 (GRCm39) R766H probably benign Het
Mthfr G T 4: 148,128,978 (GRCm39) E225* probably null Het
Mtmr11 T C 3: 96,076,403 (GRCm39) F453L possibly damaging Het
Naip2 T C 13: 100,298,087 (GRCm39) N650D probably damaging Het
Nek3 C T 8: 22,618,742 (GRCm39) G497R unknown Het
Nol4 G T 18: 22,828,053 (GRCm39) A337E probably damaging Het
Nrxn2 A G 19: 6,581,882 (GRCm39) T1606A probably benign Het
Odad2 G T 18: 7,288,633 (GRCm39) T78K probably benign Het
Or2ab1 G A 11: 58,488,927 (GRCm39) R229H probably benign Het
Or4a71 T C 2: 89,358,214 (GRCm39) N180S probably benign Het
Or5b124 G A 19: 13,610,760 (GRCm39) C95Y probably damaging Het
Or5p6 T C 7: 107,631,259 (GRCm39) Y97C probably benign Het
Paox C T 7: 139,712,359 (GRCm39) R197* probably null Het
Pcdha8 A G 18: 37,125,548 (GRCm39) D10G probably benign Het
Pde6h T G 6: 136,936,359 (GRCm39) F34C probably damaging Het
Phkb T G 8: 86,783,119 (GRCm39) S972A probably benign Het
Pik3c2g T A 6: 139,606,865 (GRCm39) M304K probably benign Het
Rnf144b A G 13: 47,397,912 (GRCm39) I281V probably damaging Het
Robo2 C T 16: 73,770,197 (GRCm39) G509E possibly damaging Het
Sap30l A G 11: 57,696,936 (GRCm39) R89G probably damaging Het
Scrn2 C T 11: 96,922,928 (GRCm39) R124W probably damaging Het
Shcbp1l A T 1: 153,328,011 (GRCm39) N574I probably damaging Het
Slfn8 T C 11: 82,894,267 (GRCm39) I791V probably benign Het
Stard13 C T 5: 150,986,961 (GRCm39) S183N possibly damaging Het
Tent5a A G 9: 85,207,267 (GRCm39) M177T possibly damaging Het
Tpbg A G 9: 85,726,574 (GRCm39) N181S probably benign Het
Tsc22d1 T A 14: 76,654,664 (GRCm39) V381D possibly damaging Het
Uhrf1 A G 17: 56,629,357 (GRCm39) D735G probably benign Het
Vmn2r13 T A 5: 109,322,007 (GRCm39) D230V probably benign Het
Vwf T A 6: 125,634,053 (GRCm39) V2116E Het
Zfp616 G A 11: 73,976,283 (GRCm39) G851S probably damaging Het
Zranb1 G T 7: 132,584,600 (GRCm39) E623* 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
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
Predicted Primers PCR Primer
(F):5'- AGAAGCCATTCTGAGGAACC -3'
(R):5'- TTCTTTGAAAAGGCCACCACAC -3'

Sequencing Primer
(F):5'- TTCTGAGGAACCAACAGGGCC -3'
(R):5'- ATCAGCTCCCAGGACCTG -3'
Posted On 2022-10-06