Incidental Mutation 'IGL03098:Btnl2'
ID |
452998 |
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 # |
IGL03098 (G1)
|
Quality Score |
188 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34573796-34588469 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34584190 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 371
(V371A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137048
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025198]
[ENSMUST00000178562]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000025198
AA Change: V371A
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000025198 Gene: ENSMUSG00000024340 AA Change: V371A
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 benign
Transcript: ENSMUST00000178562
AA Change: V371A
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000137048 Gene: ENSMUSG00000024340 AA Change: V371A
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
92% (44/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
Abca15 |
T |
C |
7: 119,987,499 (GRCm39) |
|
probably null |
Het |
Adcy4 |
T |
C |
14: 56,019,038 (GRCm39) |
Q173R |
probably null |
Het |
Arhgef19 |
A |
G |
4: 140,974,879 (GRCm39) |
D113G |
possibly damaging |
Het |
Btbd6 |
A |
G |
12: 112,942,038 (GRCm39) |
E501G |
probably damaging |
Het |
Cd84 |
G |
T |
1: 171,700,267 (GRCm39) |
R128L |
possibly damaging |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Dsg3 |
A |
T |
18: 20,643,422 (GRCm39) |
|
probably benign |
Het |
Efnb2 |
A |
T |
8: 8,713,420 (GRCm39) |
|
probably benign |
Het |
Fam24b |
T |
C |
7: 130,927,977 (GRCm39) |
S71G |
probably benign |
Het |
Flacc1 |
G |
T |
1: 58,730,908 (GRCm39) |
H49Q |
probably benign |
Het |
Hgd |
G |
A |
16: 37,436,607 (GRCm39) |
C180Y |
probably benign |
Het |
Hjurp |
TGGG |
TTGCGGG |
1: 88,194,002 (GRCm39) |
|
probably benign |
Het |
Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
Kcmf1 |
A |
T |
6: 72,826,567 (GRCm39) |
M1K |
probably null |
Het |
Letm2 |
T |
A |
8: 26,071,745 (GRCm39) |
T386S |
possibly damaging |
Het |
Lvrn |
A |
T |
18: 47,014,477 (GRCm39) |
|
probably null |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Nid2 |
G |
A |
14: 19,856,006 (GRCm39) |
D1244N |
probably damaging |
Het |
Nvl |
G |
T |
1: 180,921,471 (GRCm39) |
Q843K |
probably benign |
Het |
Obi1 |
T |
C |
14: 104,716,253 (GRCm39) |
I707V |
possibly damaging |
Het |
Or1e30 |
T |
G |
11: 73,678,529 (GRCm39) |
I255S |
probably benign |
Het |
Pi4ka |
A |
T |
16: 17,143,891 (GRCm39) |
I726N |
probably damaging |
Het |
Rab25 |
A |
T |
3: 88,449,567 (GRCm39) |
C209S |
probably damaging |
Het |
Rgs6 |
A |
T |
12: 83,032,150 (GRCm39) |
I21F |
probably damaging |
Het |
Rnf10 |
T |
C |
5: 115,410,426 (GRCm39) |
D16G |
probably damaging |
Het |
Rnmt |
G |
A |
18: 68,439,073 (GRCm39) |
V61M |
probably damaging |
Het |
Rrs1 |
GCTC |
GC |
1: 9,616,328 (GRCm39) |
|
probably null |
Het |
Scd4 |
A |
T |
19: 44,321,931 (GRCm39) |
M1L |
possibly damaging |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Sptb |
A |
G |
12: 76,668,273 (GRCm39) |
I608T |
probably damaging |
Het |
Sstr5 |
A |
G |
17: 25,710,251 (GRCm39) |
V326A |
probably benign |
Het |
Sugct |
T |
C |
13: 17,846,321 (GRCm39) |
D62G |
probably damaging |
Het |
Thada |
C |
G |
17: 84,641,569 (GRCm39) |
D1306H |
possibly damaging |
Het |
Thap1 |
C |
G |
8: 26,652,498 (GRCm39) |
P79A |
probably benign |
Het |
Tra2a |
G |
A |
6: 49,225,969 (GRCm39) |
S157L |
probably damaging |
Het |
Trappc10 |
C |
T |
10: 78,050,520 (GRCm39) |
R307Q |
probably damaging |
Het |
Trim9 |
A |
G |
12: 70,327,467 (GRCm39) |
I390T |
possibly damaging |
Het |
Usp24 |
T |
C |
4: 106,228,230 (GRCm39) |
V765A |
probably benign |
Het |
Wdr90 |
C |
A |
17: 26,078,961 (GRCm39) |
|
probably benign |
Het |
Ybey |
A |
T |
10: 76,304,078 (GRCm39) |
C41* |
probably null |
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 |
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 |
R3009:Btnl2
|
UTSW |
17 |
34,582,492 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- GTAGTCTATCCTAGAAGACTGCAAC -3'
(R):5'- CGTTTGTGACCAGCAGAAGTG -3'
Sequencing Primer
(F):5'- GAAATCTTGTAGCCAGTCCCAG -3'
(R):5'- TTGTGACCAGCAGAAGTGTCTCC -3'
|
Posted On |
2017-01-24 |