Incidental Mutation 'R0749:Btn2a2'
ID |
70261 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btn2a2
|
Ensembl Gene |
ENSMUSG00000053216 |
Gene Name |
butyrophilin, subfamily 2, member A2 |
Synonyms |
|
MMRRC Submission |
038929-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0749 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
23661846-23673027 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
T to C
at 23662568 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Tryptophan
at position 418
(*418W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048251
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041541]
[ENSMUST00000110432]
[ENSMUST00000110433]
[ENSMUST00000223877]
|
AlphaFold |
A4QPC6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041541
AA Change: *418W
|
SMART Domains |
Protein: ENSMUSP00000048251 Gene: ENSMUSG00000053216 AA Change: *418W
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: T461A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106062 Gene: ENSMUSG00000053216 AA Change: T461A
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: T461A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106063 Gene: ENSMUSG00000053216 AA Change: T461A
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: T452A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.5%
|
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 |
Aprt |
A |
T |
8: 123,302,149 (GRCm39) |
Y105N |
probably damaging |
Het |
Atxn2l |
A |
T |
7: 126,100,009 (GRCm39) |
S109T |
possibly damaging |
Het |
Bbs9 |
T |
C |
9: 22,486,497 (GRCm39) |
|
probably null |
Het |
Bmp4 |
T |
C |
14: 46,622,070 (GRCm39) |
E158G |
probably damaging |
Het |
Cpt1c |
A |
G |
7: 44,612,250 (GRCm39) |
Y494H |
probably damaging |
Het |
Cyp3a16 |
T |
A |
5: 145,392,987 (GRCm39) |
|
probably null |
Het |
Dpy19l1 |
T |
A |
9: 24,373,880 (GRCm39) |
H270L |
probably benign |
Het |
Fdxr |
A |
G |
11: 115,167,671 (GRCm39) |
S15P |
probably benign |
Het |
Gm8688 |
T |
G |
8: 100,391,152 (GRCm39) |
|
noncoding transcript |
Het |
Golph3l |
G |
A |
3: 95,515,260 (GRCm39) |
R134Q |
probably damaging |
Het |
Hmgxb4 |
A |
G |
8: 75,727,565 (GRCm39) |
T183A |
probably damaging |
Het |
Krt1c |
T |
G |
15: 101,726,098 (GRCm39) |
S147R |
unknown |
Het |
Lipn |
T |
C |
19: 34,054,379 (GRCm39) |
S206P |
probably damaging |
Het |
Mcpt2 |
A |
G |
14: 56,281,136 (GRCm39) |
|
probably null |
Het |
Metap2 |
T |
C |
10: 93,715,429 (GRCm39) |
E133G |
probably benign |
Het |
Nuak1 |
T |
C |
10: 84,210,648 (GRCm39) |
Y480C |
probably damaging |
Het |
Oma1 |
C |
T |
4: 103,182,496 (GRCm39) |
Q300* |
probably null |
Het |
Pcnt |
T |
C |
10: 76,217,198 (GRCm39) |
E2161G |
probably damaging |
Het |
Pkdrej |
G |
T |
15: 85,702,275 (GRCm39) |
D1220E |
probably benign |
Het |
Ptdss1 |
T |
A |
13: 67,135,914 (GRCm39) |
C390* |
probably null |
Het |
Sars1 |
A |
C |
3: 108,335,582 (GRCm39) |
F389V |
possibly damaging |
Het |
Sec31b |
C |
T |
19: 44,512,945 (GRCm39) |
V515M |
probably damaging |
Het |
Syt3 |
A |
G |
7: 44,048,571 (GRCm39) |
E587G |
probably benign |
Het |
Tjp2 |
T |
C |
19: 24,099,636 (GRCm39) |
E417G |
possibly damaging |
Het |
Tmem63b |
A |
G |
17: 45,977,041 (GRCm39) |
F442S |
possibly damaging |
Het |
Togaram1 |
A |
G |
12: 65,029,472 (GRCm39) |
D965G |
possibly damaging |
Het |
Zmynd10 |
T |
C |
9: 107,425,882 (GRCm39) |
V72A |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAATAGTCCCCTAAGACTGGCTC -3'
(R):5'- AATGGCTTCTGGACCCTGGAGATG -3'
Sequencing Primer
(F):5'- ATGCTCCATGTGATCTGAAGGAC -3'
(R):5'- ACCCTGGAGATGTTTGGAAGC -3'
|
Posted On |
2013-09-30 |