Incidental Mutation 'IGL03221:Btn2a2'
| ID |
413642 |
| 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 # |
IGL03221
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
23661846-23673027 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23662619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
A4QPC6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041541
|
| SMART Domains |
Protein: ENSMUSP00000048251
Gene: ENSMUSG00000053216
| 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: S444P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106062
Gene: ENSMUSG00000053216
AA Change: S444P
| 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: S444P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106063
Gene: ENSMUSG00000053216
AA Change: S444P
| 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: 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b2 |
C |
T |
6: 113,737,820 (GRCm39) |
|
probably benign |
Het |
| BC051665 |
T |
A |
13: 60,932,242 (GRCm39) |
K116* |
probably null |
Het |
| Birc6 |
A |
T |
17: 74,934,002 (GRCm39) |
T2538S |
probably benign |
Het |
| Efhb |
A |
G |
17: 53,706,014 (GRCm39) |
L841P |
probably damaging |
Het |
| Etv4 |
C |
T |
11: 101,664,988 (GRCm39) |
R155K |
probably damaging |
Het |
| Fnbp4 |
T |
A |
2: 90,608,062 (GRCm39) |
M928K |
possibly damaging |
Het |
| Grin2c |
A |
G |
11: 115,144,870 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
T |
10: 119,822,299 (GRCm39) |
M342L |
probably benign |
Het |
| H60c |
T |
A |
10: 3,209,799 (GRCm39) |
K163* |
probably null |
Het |
| Hycc2 |
C |
A |
1: 58,579,345 (GRCm39) |
V231L |
probably benign |
Het |
| Lilrb4b |
A |
G |
10: 51,357,524 (GRCm39) |
|
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mast4 |
A |
G |
13: 102,890,764 (GRCm39) |
V838A |
possibly damaging |
Het |
| Mypn |
C |
A |
10: 62,966,902 (GRCm39) |
D925Y |
probably damaging |
Het |
| Nol6 |
T |
C |
4: 41,124,166 (GRCm39) |
D27G |
probably benign |
Het |
| Or4c105 |
T |
C |
2: 88,647,781 (GRCm39) |
S89P |
possibly damaging |
Het |
| Or5b97 |
G |
T |
19: 12,878,905 (GRCm39) |
P80T |
probably damaging |
Het |
| Or8b51 |
A |
T |
9: 38,569,661 (GRCm39) |
V9E |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,718,133 (GRCm39) |
|
probably null |
Het |
| Pik3c3 |
G |
T |
18: 30,435,984 (GRCm39) |
M394I |
probably benign |
Het |
| Rfx7 |
C |
T |
9: 72,526,088 (GRCm39) |
R1093C |
probably damaging |
Het |
| Scin |
A |
G |
12: 40,126,973 (GRCm39) |
V458A |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,548,591 (GRCm39) |
V39A |
probably benign |
Het |
| Slc6a4 |
A |
G |
11: 76,917,931 (GRCm39) |
M558V |
probably benign |
Het |
| Smpx |
T |
C |
X: 156,503,994 (GRCm39) |
V65A |
probably damaging |
Het |
| Tmem200a |
A |
T |
10: 25,869,922 (GRCm39) |
F116I |
possibly damaging |
Het |
| Tnfrsf19 |
A |
T |
14: 61,262,227 (GRCm39) |
V12E |
probably benign |
Het |
| Trpc1 |
C |
T |
9: 95,588,953 (GRCm39) |
R757H |
probably damaging |
Het |
| Ttc38 |
T |
A |
15: 85,718,742 (GRCm39) |
S51T |
probably benign |
Het |
| Wee1 |
G |
A |
7: 109,726,024 (GRCm39) |
C378Y |
probably damaging |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation