Incidental Mutation 'R6196:Btn2a2'
| ID |
502941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btn2a2
|
| Ensembl Gene |
ENSMUSG00000053216 |
| Gene Name |
butyrophilin, subfamily 2, member A2 |
| Synonyms |
|
| MMRRC Submission |
044336-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6196 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
23661846-23673027 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 23672015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 25
(V25M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041541]
[ENSMUST00000110432]
[ENSMUST00000110433]
[ENSMUST00000223877]
|
| AlphaFold |
A4QPC6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041541
AA Change: V25M
PolyPhen 2
Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000048251
Gene: ENSMUSG00000053216
AA Change: V25M
| 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 benign
Transcript: ENSMUST00000110432
AA Change: V25M
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106062
Gene: ENSMUSG00000053216
AA Change: V25M
| 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 benign
Transcript: ENSMUST00000110433
AA Change: V25M
PolyPhen 2
Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000106063
Gene: ENSMUSG00000053216
AA Change: V25M
| 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 benign
Transcript: ENSMUST00000223877
AA Change: V25M
PolyPhen 2
Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
96% (55/57) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
T |
8: 106,436,554 (GRCm39) |
H241L |
possibly damaging |
Het |
| Acap1 |
T |
C |
11: 69,777,893 (GRCm39) |
D115G |
probably damaging |
Het |
| Acvr2b |
T |
C |
9: 119,262,469 (GRCm39) |
V510A |
possibly damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Agr2 |
A |
T |
12: 36,045,591 (GRCm39) |
K26* |
probably null |
Het |
| Aox4 |
T |
A |
1: 58,256,685 (GRCm39) |
I69N |
probably damaging |
Het |
| Asb4 |
G |
A |
6: 5,390,699 (GRCm39) |
G31R |
probably benign |
Het |
| Atp6v1c2 |
C |
A |
12: 17,351,187 (GRCm39) |
E105* |
probably null |
Het |
| Bend6 |
A |
G |
1: 33,917,509 (GRCm39) |
Y44H |
probably damaging |
Het |
| Bltp3b |
T |
G |
10: 89,641,195 (GRCm39) |
S789A |
probably benign |
Het |
| Cab39l |
T |
A |
14: 59,737,039 (GRCm39) |
L53Q |
probably damaging |
Het |
| Cc2d1b |
C |
T |
4: 108,490,422 (GRCm39) |
R825W |
probably damaging |
Het |
| Cdc14b |
C |
T |
13: 64,353,338 (GRCm39) |
|
probably benign |
Het |
| Cenpu |
A |
G |
8: 47,015,615 (GRCm39) |
R177G |
probably benign |
Het |
| Chit1 |
C |
A |
1: 134,074,381 (GRCm39) |
Y229* |
probably null |
Het |
| Crybg2 |
C |
A |
4: 133,808,450 (GRCm39) |
S1350R |
probably damaging |
Het |
| Ctdspl2 |
A |
G |
2: 121,809,373 (GRCm39) |
|
probably null |
Het |
| Ctsr |
A |
T |
13: 61,308,345 (GRCm39) |
H266Q |
probably benign |
Het |
| Dynlt5 |
A |
G |
4: 102,849,766 (GRCm39) |
E63G |
possibly damaging |
Het |
| Efcab3 |
T |
G |
11: 104,746,386 (GRCm39) |
I2279S |
probably benign |
Het |
| Extl3 |
T |
A |
14: 65,313,584 (GRCm39) |
M533L |
probably benign |
Het |
| Fam162b |
C |
A |
10: 51,463,506 (GRCm39) |
|
probably null |
Het |
| Fbxo28 |
T |
C |
1: 182,157,454 (GRCm39) |
K121R |
probably damaging |
Het |
| Fsip2 |
A |
C |
2: 82,820,227 (GRCm39) |
E5320A |
possibly damaging |
Het |
| Galc |
A |
T |
12: 98,225,421 (GRCm39) |
D56E |
probably damaging |
Het |
| Gm5468 |
A |
G |
15: 25,414,481 (GRCm39) |
|
probably benign |
Het |
| Hk1 |
T |
A |
10: 62,135,038 (GRCm39) |
H24L |
probably damaging |
Het |
| Igkv5-43 |
A |
G |
6: 69,752,965 (GRCm39) |
V39A |
possibly damaging |
Het |
| Lemd2 |
G |
A |
17: 27,411,976 (GRCm39) |
Q439* |
probably null |
Het |
| Lgi1 |
A |
G |
19: 38,294,257 (GRCm39) |
N295S |
probably benign |
Het |
| Macc1 |
T |
G |
12: 119,409,785 (GRCm39) |
S184R |
probably damaging |
Het |
| Msmo1 |
A |
G |
8: 65,180,918 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
C |
A |
7: 141,405,333 (GRCm39) |
R914S |
unknown |
Het |
| Or10d1 |
G |
A |
9: 39,483,776 (GRCm39) |
P260S |
possibly damaging |
Het |
| Or1e16 |
G |
A |
11: 73,286,299 (GRCm39) |
A183V |
probably benign |
Het |
| Or1e17 |
G |
A |
11: 73,831,635 (GRCm39) |
A188T |
possibly damaging |
Het |
| Or4k2 |
C |
A |
14: 50,424,135 (GRCm39) |
D180Y |
probably damaging |
Het |
| Or5b110-ps1 |
A |
G |
19: 13,260,290 (GRCm39) |
I44T |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,525,179 (GRCm39) |
S14P |
probably benign |
Het |
| Pus10 |
A |
G |
11: 23,622,638 (GRCm39) |
K86R |
probably benign |
Het |
| Rab37 |
T |
C |
11: 115,051,132 (GRCm39) |
V147A |
probably benign |
Het |
| Sin3a |
T |
A |
9: 57,011,213 (GRCm39) |
I490N |
probably damaging |
Het |
| Slc27a4 |
A |
G |
2: 29,695,762 (GRCm39) |
D99G |
probably benign |
Het |
| Slc43a2 |
C |
T |
11: 75,459,206 (GRCm39) |
R413* |
probably null |
Het |
| Syna |
G |
T |
5: 134,588,466 (GRCm39) |
T161N |
probably benign |
Het |
| T |
A |
G |
17: 8,655,996 (GRCm39) |
D86G |
possibly damaging |
Het |
| Tanc1 |
G |
A |
2: 59,674,366 (GRCm39) |
E1817K |
possibly damaging |
Het |
| Tap2 |
C |
A |
17: 34,433,384 (GRCm39) |
Q516K |
possibly damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,653,741 (GRCm39) |
D717E |
probably damaging |
Het |
| Tcf20 |
G |
T |
15: 82,736,187 (GRCm39) |
Q1755K |
possibly damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trpm7 |
G |
A |
2: 126,667,559 (GRCm39) |
P811S |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,679 (GRCm39) |
V712A |
probably benign |
Het |
| Vwc2l |
T |
A |
1: 70,768,180 (GRCm39) |
D34E |
probably damaging |
Het |
| Wdr35 |
A |
G |
12: 9,077,632 (GRCm39) |
K1091E |
probably benign |
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 |
|
|
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 |
|
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'- TGCCACTTGGACATTTACAGATC -3'
(R):5'- CATGAGACCAGCATAGGGAC -3'
Sequencing Primer
(F):5'- GGACATTTACAGATCTCCTTTGATGC -3'
(R):5'- CCAGCATAGGGACAAAAAGGTGTC -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation