Incidental Mutation 'R0706:Btnl2'
| ID |
63145 |
| 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 |
| MMRRC Submission |
038889-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0706 (G1)
|
| Quality Score |
90 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34573796-34588469 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34587636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 493
(N493K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025198
(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: N493K
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000025198
Gene: ENSMUSG00000024340
AA Change: N493K
| 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: N493K
PolyPhen 2
Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000137048
Gene: ENSMUSG00000024340
AA Change: N493K
| 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: 98.5%
- 10x: 96.6%
- 20x: 92.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef15 |
C |
T |
11: 68,845,402 (GRCm39) |
R150H |
probably damaging |
Het |
| Ccdc175 |
G |
A |
12: 72,186,722 (GRCm39) |
T374I |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,752,922 (GRCm39) |
S419G |
probably damaging |
Het |
| Ireb2 |
A |
G |
9: 54,799,770 (GRCm39) |
T404A |
probably benign |
Het |
| Klk1b5 |
C |
T |
7: 43,867,938 (GRCm39) |
P37S |
probably damaging |
Het |
| Lrrc32 |
C |
T |
7: 98,148,917 (GRCm39) |
R566W |
probably damaging |
Het |
| Med12l |
A |
G |
3: 59,169,401 (GRCm39) |
N1597S |
probably damaging |
Het |
| Mrpl50 |
T |
C |
4: 49,514,198 (GRCm39) |
S158G |
probably benign |
Het |
| Mycbpap |
G |
T |
11: 94,404,612 (GRCm39) |
Y110* |
probably null |
Het |
| Nphp4 |
G |
A |
4: 152,640,074 (GRCm39) |
A987T |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,101,809 (GRCm39) |
V3374I |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Sis |
T |
C |
3: 72,859,864 (GRCm39) |
Q297R |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tprn |
A |
G |
2: 25,154,503 (GRCm39) |
I602V |
probably damaging |
Het |
| Xpo1 |
T |
A |
11: 23,230,441 (GRCm39) |
V276E |
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 |
|
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'- GGTAACTTTTCTCTAGGCTGCACCC -3'
(R):5'- AGCAGCAAGTGAAAGCACTCCTATG -3'
Sequencing Primer
(F):5'- TAGGCTGCACCCTACTGTG -3'
(R):5'- AGCACTCCTATGTCAGTGCAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation