Incidental Mutation 'R8996:Btn2a2'
| ID |
684734 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btn2a2
|
| Ensembl Gene |
ENSMUSG00000053216 |
| Gene Name |
butyrophilin, subfamily 2, member A2 |
| Synonyms |
|
| MMRRC Submission |
068827-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8996 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
23661846-23673027 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 23662831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 373
(E373G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106062
(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: E373G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106062
Gene: ENSMUSG00000053216
AA Change: E373G
| 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: E373G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106063
Gene: ENSMUSG00000053216
AA Change: E373G
| 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: E364G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (43/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
G |
5: 8,769,069 (GRCm39) |
I764V |
probably benign |
Het |
| Adgrv1 |
GTT |
GT |
13: 81,553,457 (GRCm39) |
|
probably null |
Het |
| Alcam |
T |
C |
16: 52,126,114 (GRCm39) |
I68V |
probably benign |
Het |
| Atp8b2 |
A |
G |
3: 89,850,696 (GRCm39) |
L75P |
probably damaging |
Het |
| B3gnt6 |
T |
C |
7: 97,842,799 (GRCm39) |
N387S |
probably benign |
Het |
| Cfap65 |
G |
A |
1: 74,941,347 (GRCm39) |
H1831Y |
probably benign |
Het |
| Cftr |
T |
A |
6: 18,255,945 (GRCm39) |
C564* |
probably null |
Het |
| Chd6 |
A |
G |
2: 160,823,543 (GRCm39) |
W1276R |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,971,105 (GRCm39) |
E3070G |
possibly damaging |
Het |
| Cxcr4 |
A |
G |
1: 128,517,538 (GRCm39) |
I41T |
possibly damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,323,242 (GRCm39) |
N583K |
probably damaging |
Het |
| Fignl1 |
G |
T |
11: 11,752,953 (GRCm39) |
P34Q |
probably damaging |
Het |
| Frg2f1 |
T |
C |
4: 119,388,085 (GRCm39) |
D138G |
probably damaging |
Het |
| Gabra4 |
A |
T |
5: 71,729,046 (GRCm39) |
M578K |
possibly damaging |
Het |
| Gnb5 |
T |
C |
9: 75,251,805 (GRCm39) |
V351A |
probably benign |
Het |
| H2-Ob |
A |
T |
17: 34,462,531 (GRCm39) |
I245F |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Igkv4-54 |
A |
T |
6: 69,608,774 (GRCm39) |
Y48* |
probably null |
Het |
| Kdm7a |
A |
C |
6: 39,129,786 (GRCm39) |
H463Q |
probably benign |
Het |
| L3mbtl4 |
A |
G |
17: 68,769,997 (GRCm39) |
T256A |
probably benign |
Het |
| Lhpp |
A |
G |
7: 132,212,484 (GRCm39) |
D17G |
probably damaging |
Het |
| Mis18bp1 |
C |
T |
12: 65,180,632 (GRCm39) |
V950I |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,598,884 (GRCm39) |
|
probably null |
Het |
| Mrgpra4 |
T |
C |
7: 47,630,945 (GRCm39) |
T219A |
probably benign |
Het |
| Nptx1 |
G |
A |
11: 119,438,394 (GRCm39) |
R8C |
unknown |
Het |
| Plcxd1 |
A |
G |
5: 110,250,444 (GRCm39) |
T262A |
probably benign |
Het |
| Sf1 |
G |
A |
19: 6,426,441 (GRCm39) |
G221S |
|
Het |
| Shkbp1 |
A |
G |
7: 27,042,844 (GRCm39) |
V531A |
possibly damaging |
Het |
| Slc12a3 |
A |
T |
8: 95,056,063 (GRCm39) |
E66D |
probably benign |
Het |
| Slc14a1 |
A |
T |
18: 78,156,911 (GRCm39) |
I198K |
possibly damaging |
Het |
| Spag8 |
T |
C |
4: 43,651,998 (GRCm39) |
E362G |
probably damaging |
Het |
| Speer4c1 |
T |
A |
5: 15,915,886 (GRCm39) |
I161L |
probably benign |
Het |
| Stk3 |
A |
G |
15: 34,945,208 (GRCm39) |
S427P |
possibly damaging |
Het |
| Stt3b |
T |
C |
9: 115,073,065 (GRCm39) |
K814E |
unknown |
Het |
| Synpo |
T |
A |
18: 60,737,230 (GRCm39) |
I239F |
possibly damaging |
Het |
| Tcf7l1 |
G |
T |
6: 72,765,563 (GRCm39) |
R97S |
possibly damaging |
Het |
| Trav15-2-dv6-2 |
T |
A |
14: 53,887,247 (GRCm39) |
Y56N |
probably benign |
Het |
| Ttc39c |
A |
G |
18: 12,820,136 (GRCm39) |
N112S |
probably benign |
Het |
| Usp14 |
T |
C |
18: 10,000,521 (GRCm39) |
K380E |
probably benign |
Het |
| Usp17lb |
C |
T |
7: 104,490,889 (GRCm39) |
A13T |
probably benign |
Het |
| Usp4 |
G |
A |
9: 108,268,909 (GRCm39) |
R921H |
probably damaging |
Het |
| Xndc1 |
A |
G |
7: 101,722,518 (GRCm39) |
D61G |
probably damaging |
Het |
| Zfp1006 |
G |
A |
8: 129,946,016 (GRCm39) |
P270S |
possibly 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 |
|
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 |
|
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'- CGGTGAAGACGCTCTTTCAG -3'
(R):5'- TGGAAACAGATCTCAGCACTAATCC -3'
Sequencing Primer
(F):5'- GAAGACGCTCTTTCAGAGGTATGATC -3'
(R):5'- TACAGCTGACGTGGTCCTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation