Incidental Mutation 'IGL03010:Btn2a2'
ID |
407726 |
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 # |
IGL03010
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
23661846-23673027 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 23670375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 119
(Y119*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153680
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041541]
[ENSMUST00000110432]
[ENSMUST00000110433]
[ENSMUST00000223877]
|
AlphaFold |
A4QPC6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041541
AA Change: Y119*
|
SMART Domains |
Protein: ENSMUSP00000048251 Gene: ENSMUSG00000053216 AA Change: Y119*
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 null
Transcript: ENSMUST00000110432
AA Change: Y119*
|
SMART Domains |
Protein: ENSMUSP00000106062 Gene: ENSMUSG00000053216 AA Change: Y119*
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 null
Transcript: ENSMUST00000110433
AA Change: Y119*
|
SMART Domains |
Protein: ENSMUSP00000106063 Gene: ENSMUSG00000053216 AA Change: Y119*
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 null
Transcript: ENSMUST00000223877
AA Change: Y119*
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
Adamts4 |
T |
C |
1: 171,078,985 (GRCm39) |
C202R |
probably damaging |
Het |
Afap1l1 |
T |
C |
18: 61,876,390 (GRCm39) |
D409G |
probably benign |
Het |
Atp6v1b2 |
T |
C |
8: 69,558,534 (GRCm39) |
I334T |
probably damaging |
Het |
Cct2 |
T |
C |
10: 116,894,019 (GRCm39) |
D245G |
probably damaging |
Het |
Ercc2 |
A |
G |
7: 19,125,491 (GRCm39) |
K486E |
possibly damaging |
Het |
Fam186b |
T |
C |
15: 99,178,508 (GRCm39) |
S273G |
possibly damaging |
Het |
Fbxw24 |
T |
A |
9: 109,452,678 (GRCm39) |
I106L |
probably benign |
Het |
Ghrhr |
T |
C |
6: 55,361,742 (GRCm39) |
I303T |
probably damaging |
Het |
Habp2 |
T |
C |
19: 56,299,655 (GRCm39) |
|
probably null |
Het |
Haus3 |
T |
A |
5: 34,323,631 (GRCm39) |
E326D |
probably benign |
Het |
Hdac7 |
C |
T |
15: 97,691,810 (GRCm39) |
|
probably null |
Het |
Hectd2 |
T |
A |
19: 36,593,002 (GRCm39) |
D722E |
probably benign |
Het |
Il20ra |
G |
T |
10: 19,624,960 (GRCm39) |
G80W |
probably damaging |
Het |
Jag1 |
T |
C |
2: 136,935,118 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
A |
G |
2: 42,213,618 (GRCm39) |
S65P |
possibly damaging |
Het |
Lypd2 |
A |
G |
15: 74,606,102 (GRCm39) |
I12T |
probably benign |
Het |
Nat2 |
T |
A |
8: 67,954,664 (GRCm39) |
L258Q |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,414,688 (GRCm39) |
|
probably benign |
Het |
Or2y1b |
T |
A |
11: 49,208,973 (GRCm39) |
V200E |
probably damaging |
Het |
Or5ac24 |
A |
G |
16: 59,165,135 (GRCm39) |
|
probably benign |
Het |
Or6c3 |
G |
T |
10: 129,308,843 (GRCm39) |
C94F |
probably damaging |
Het |
Pcdh15 |
T |
A |
10: 74,221,777 (GRCm39) |
D692E |
probably damaging |
Het |
Prkcz |
G |
T |
4: 155,371,262 (GRCm39) |
H134N |
probably damaging |
Het |
Prmt8 |
T |
C |
6: 127,706,498 (GRCm39) |
T98A |
probably benign |
Het |
Rps6kc1 |
C |
A |
1: 190,643,803 (GRCm39) |
E19* |
probably null |
Het |
Rrp8 |
A |
G |
7: 105,383,598 (GRCm39) |
S223P |
probably benign |
Het |
Septin10 |
G |
A |
10: 59,006,777 (GRCm39) |
|
probably benign |
Het |
Serpinb7 |
T |
C |
1: 107,379,741 (GRCm39) |
|
probably benign |
Het |
Spaca6 |
C |
A |
17: 18,058,667 (GRCm39) |
Q72K |
probably benign |
Het |
Spag1 |
A |
G |
15: 36,233,419 (GRCm39) |
H712R |
probably benign |
Het |
Spg11 |
C |
A |
2: 121,918,801 (GRCm39) |
A943S |
probably damaging |
Het |
Tmem104 |
T |
C |
11: 115,134,360 (GRCm39) |
S298P |
probably benign |
Het |
Ttn |
A |
G |
2: 76,565,432 (GRCm39) |
I28265T |
probably damaging |
Het |
Usp33 |
G |
T |
3: 152,074,233 (GRCm39) |
V360F |
probably benign |
Het |
Vmn2r113 |
A |
G |
17: 23,175,038 (GRCm39) |
T550A |
possibly damaging |
Het |
Zscan4d |
A |
T |
7: 10,897,070 (GRCm39) |
V128D |
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 |
|
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 |
2016-08-02 |