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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |