Incidental Mutation 'IGL00515:Btn2a2'
| ID |
5949 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Btn2a2
|
| Ensembl Gene |
ENSMUSG00000053216 |
| Gene Name |
butyrophilin, subfamily 2, member A2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00515
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
23661846-23673027 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 23662746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 372
(N372K)
|
| 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: N372K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048251
Gene: ENSMUSG00000053216
AA Change: N372K
| 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 |
probably damaging
Transcript: ENSMUST00000110432
AA Change: N401K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106062
Gene: ENSMUSG00000053216
AA Change: N401K
| 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 |
probably damaging
Transcript: ENSMUST00000110433
AA Change: N401K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106063
Gene: ENSMUSG00000053216
AA Change: N401K
| 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 |
probably damaging
Transcript: ENSMUST00000223877
AA Change: N392K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
C |
8: 71,909,963 (GRCm39) |
E395G |
probably damaging |
Het |
| Agbl2 |
T |
C |
2: 90,624,304 (GRCm39) |
V188A |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,108,979 (GRCm39) |
L1225P |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,947,865 (GRCm39) |
D1650G |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,072,382 (GRCm39) |
R706Q |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,409,265 (GRCm39) |
N1886I |
possibly damaging |
Het |
| Foxp2 |
A |
T |
6: 15,403,818 (GRCm39) |
H390L |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,889,080 (GRCm39) |
S227P |
probably benign |
Het |
| Hectd2 |
A |
G |
19: 36,562,336 (GRCm39) |
T148A |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,874,799 (GRCm39) |
W1898* |
probably null |
Het |
| Hmgxb4 |
C |
A |
8: 75,727,539 (GRCm39) |
P174Q |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,617,967 (GRCm39) |
|
probably null |
Het |
| Lef1 |
A |
G |
3: 130,997,926 (GRCm39) |
R312G |
probably damaging |
Het |
| Mast2 |
G |
T |
4: 116,168,526 (GRCm39) |
R805S |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,395 (GRCm39) |
R1181K |
probably benign |
Het |
| Nfatc1 |
G |
T |
18: 80,710,241 (GRCm39) |
H508Q |
probably damaging |
Het |
| Pabir1 |
T |
C |
19: 24,453,996 (GRCm39) |
D242G |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,102,370 (GRCm39) |
T76A |
probably benign |
Het |
| Rln1 |
C |
T |
19: 29,309,414 (GRCm39) |
V122I |
possibly damaging |
Het |
| Slc22a28 |
T |
C |
19: 8,094,428 (GRCm39) |
I198V |
probably benign |
Het |
| Slco1c1 |
G |
A |
6: 141,515,208 (GRCm39) |
R702H |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,612,940 (GRCm39) |
H860L |
probably damaging |
Het |
| Slk |
A |
G |
19: 47,630,535 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,881,686 (GRCm39) |
I535N |
probably benign |
Het |
| Tigar |
A |
C |
6: 127,065,042 (GRCm39) |
M202R |
probably damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,917 (GRCm39) |
S42G |
probably damaging |
Het |
| Zc3h7a |
A |
T |
16: 10,955,202 (GRCm39) |
N957K |
probably damaging |
Het |
|
| Other mutations in Btn2a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R9708:Btn2a2
|
UTSW |
13 |
23,662,907 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2012-04-20 |
Incidental Mutation