Incidental Mutation 'R3009:Btnl2'
| ID |
257470 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btnl2
|
| Ensembl Gene |
ENSMUSG00000024340 |
| Gene Name |
butyrophilin-like 2 |
| Synonyms |
butyrophylin-like MHC class II associated, BTL-II, BTLN2, NG9 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3009 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34573796-34588469 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34582492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 353
(R353C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137048
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025198]
[ENSMUST00000178562]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025198
AA Change: R353C
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000025198
Gene: ENSMUSG00000024340
AA Change: R353C
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
35 |
140 |
2.16e-8 |
SMART |
|
Blast:IG_like
|
150 |
236 |
4e-12 |
BLAST |
|
IGv
|
262 |
343 |
2.89e-9 |
SMART |
|
Pfam:C2-set_2
|
361 |
446 |
2.6e-6 |
PFAM |
|
transmembrane domain
|
457 |
479 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178562
AA Change: R353C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137048
Gene: ENSMUSG00000024340
AA Change: R353C
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
35 |
140 |
2.16e-8 |
SMART |
|
Pfam:Ig_3
|
144 |
222 |
5.1e-4 |
PFAM |
|
Pfam:C2-set_2
|
146 |
229 |
1.8e-6 |
PFAM |
|
IGv
|
262 |
343 |
2.89e-9 |
SMART |
|
Pfam:C2-set_2
|
360 |
446 |
3.7e-8 |
PFAM |
|
Pfam:Ig_2
|
364 |
452 |
4.5e-2 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap12 |
A |
G |
10: 4,307,891 (GRCm39) |
D1567G |
probably benign |
Het |
| Bmp3 |
T |
C |
5: 99,027,696 (GRCm39) |
S439P |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,170,228 (GRCm39) |
D676G |
probably damaging |
Het |
| Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
| Gprc6a |
T |
C |
10: 51,504,392 (GRCm39) |
T151A |
probably benign |
Het |
| Limk2 |
A |
G |
11: 3,309,046 (GRCm39) |
I104T |
probably benign |
Het |
| Mei1 |
A |
G |
15: 81,996,726 (GRCm39) |
H585R |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
| Mtfr1 |
A |
T |
3: 19,269,750 (GRCm39) |
T133S |
probably benign |
Het |
| Or12k8 |
T |
C |
2: 36,975,089 (GRCm39) |
I224V |
probably benign |
Het |
| Or5h22 |
A |
G |
16: 58,895,350 (GRCm39) |
V31A |
probably benign |
Het |
| Or6b13 |
T |
C |
7: 139,782,669 (GRCm39) |
R5G |
probably benign |
Het |
| Or8k35 |
T |
C |
2: 86,424,714 (GRCm39) |
T153A |
probably benign |
Het |
| Prkg1 |
G |
A |
19: 31,641,512 (GRCm39) |
T57I |
possibly damaging |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Urb1 |
A |
G |
16: 90,571,686 (GRCm39) |
I1041T |
probably benign |
Het |
| Vmn2r72 |
A |
T |
7: 85,398,850 (GRCm39) |
M501K |
probably benign |
Het |
| Vmn2r91 |
G |
A |
17: 18,325,717 (GRCm39) |
V112I |
probably benign |
Het |
|
| Other mutations in Btnl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02251:Btnl2
|
APN |
17 |
34,582,213 (GRCm39) |
nonsense |
probably null |
|
|
IGL02252:Btnl2
|
APN |
17 |
34,584,364 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02651:Btnl2
|
APN |
17 |
34,575,196 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
IGL02892:Btnl2
|
APN |
17 |
34,581,642 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02939:Btnl2
|
APN |
17 |
34,580,043 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03098:Btnl2
|
UTSW |
17 |
34,584,190 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0504:Btnl2
|
UTSW |
17 |
34,577,091 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0706:Btnl2
|
UTSW |
17 |
34,587,636 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1460:Btnl2
|
UTSW |
17 |
34,585,424 (GRCm39) |
missense |
probably benign |
|
|
R1590:Btnl2
|
UTSW |
17 |
34,580,114 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1597:Btnl2
|
UTSW |
17 |
34,582,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1880:Btnl2
|
UTSW |
17 |
34,584,337 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3160:Btnl2
|
UTSW |
17 |
34,577,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3162:Btnl2
|
UTSW |
17 |
34,577,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3722:Btnl2
|
UTSW |
17 |
34,577,109 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4760:Btnl2
|
UTSW |
17 |
34,582,169 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4786:Btnl2
|
UTSW |
17 |
34,582,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:Btnl2
|
UTSW |
17 |
34,584,260 (GRCm39) |
nonsense |
probably null |
|
|
R5456:Btnl2
|
UTSW |
17 |
34,582,295 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6959:Btnl2
|
UTSW |
17 |
34,582,333 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7011:Btnl2
|
UTSW |
17 |
34,582,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7650:Btnl2
|
UTSW |
17 |
34,577,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7785:Btnl2
|
UTSW |
17 |
34,580,137 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7822:Btnl2
|
UTSW |
17 |
34,582,288 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7988:Btnl2
|
UTSW |
17 |
34,577,249 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8051:Btnl2
|
UTSW |
17 |
34,582,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8165:Btnl2
|
UTSW |
17 |
34,587,682 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R8272:Btnl2
|
UTSW |
17 |
34,575,275 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8531:Btnl2
|
UTSW |
17 |
34,577,028 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9677:Btnl2
|
UTSW |
17 |
34,580,007 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1177:Btnl2
|
UTSW |
17 |
34,582,493 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTATTACCCTGCAGTCCAC -3'
(R):5'- TGTGTACCCAAGGTTGTGCTC -3'
Sequencing Primer
(F):5'- TCCACGTGTATGCAAATGGC -3'
(R):5'- ACCCAAGGTTGTGCTCTTGAAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation