Incidental Mutation 'R5456:Btnl2'
| ID |
432776 |
| 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 |
043019-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5456 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34573796-34588469 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34582295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 287
(Y287F)
|
| 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: Y287F
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000025198
Gene: ENSMUSG00000024340
AA Change: Y287F
| 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: Y287F
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000137048
Gene: ENSMUSG00000024340
AA Change: Y287F
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot12 |
A |
G |
13: 91,889,759 (GRCm39) |
D37G |
probably damaging |
Het |
| Adcy5 |
T |
C |
16: 35,118,892 (GRCm39) |
F1081S |
probably damaging |
Het |
| Apmap |
T |
A |
2: 150,431,989 (GRCm39) |
I128L |
probably benign |
Het |
| Arhgap12 |
G |
A |
18: 6,112,170 (GRCm39) |
Q65* |
probably null |
Het |
| Baat |
C |
T |
4: 49,502,949 (GRCm39) |
V58I |
possibly damaging |
Het |
| Bco2 |
T |
C |
9: 50,456,644 (GRCm39) |
|
probably null |
Het |
| Bend3 |
T |
C |
10: 43,386,542 (GRCm39) |
Y312H |
probably damaging |
Het |
| Cd22 |
T |
C |
7: 30,575,464 (GRCm39) |
I193V |
probably benign |
Het |
| Commd3 |
A |
G |
2: 18,678,968 (GRCm39) |
E95G |
probably damaging |
Het |
| Dcbld1 |
A |
G |
10: 52,190,486 (GRCm39) |
D215G |
probably damaging |
Het |
| Elfn1 |
A |
G |
5: 139,958,571 (GRCm39) |
Y525C |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,877 (GRCm39) |
T409A |
probably benign |
Het |
| Fshr |
T |
A |
17: 89,293,776 (GRCm39) |
I301F |
probably benign |
Het |
| Hemgn |
C |
T |
4: 46,396,571 (GRCm39) |
V222M |
probably damaging |
Het |
| Igsf3 |
C |
T |
3: 101,334,537 (GRCm39) |
H205Y |
probably benign |
Het |
| Mfsd1 |
T |
C |
3: 67,497,166 (GRCm39) |
I147T |
probably benign |
Het |
| Mslnl |
A |
G |
17: 25,962,133 (GRCm39) |
D177G |
probably damaging |
Het |
| Nat2 |
G |
A |
8: 67,954,225 (GRCm39) |
V112I |
probably damaging |
Het |
| Or4c10b |
G |
A |
2: 89,711,602 (GRCm39) |
G144E |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pabpc1l |
T |
C |
2: 163,869,580 (GRCm39) |
S127P |
probably damaging |
Het |
| Poln |
A |
T |
5: 34,164,786 (GRCm39) |
L845Q |
possibly damaging |
Het |
| Ppm1f |
T |
A |
16: 16,741,610 (GRCm39) |
D361E |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,692,381 (GRCm39) |
|
probably null |
Het |
| Rarb |
G |
A |
14: 16,436,843 (GRCm38) |
T226I |
probably damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,357,378 (GRCm39) |
K205E |
probably benign |
Het |
| Sh3glb1 |
T |
A |
3: 144,415,114 (GRCm39) |
I75L |
probably benign |
Het |
| Srgap1 |
G |
A |
10: 121,705,716 (GRCm39) |
S236L |
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,369,815 (GRCm39) |
Y609C |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,322,665 (GRCm39) |
V712A |
possibly damaging |
Het |
| Trim13 |
A |
G |
14: 61,842,523 (GRCm39) |
D180G |
possibly damaging |
Het |
| Tst |
T |
C |
15: 78,284,158 (GRCm39) |
E223G |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,201,263 (GRCm39) |
I397M |
probably benign |
Het |
| Usp31 |
T |
C |
7: 121,269,500 (GRCm39) |
D481G |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,834,729 (GRCm39) |
M1686K |
possibly damaging |
Het |
| Wdr83 |
T |
C |
8: 85,806,837 (GRCm39) |
H81R |
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 |
|
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 |
|
|
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'- AACCTCACAGGATGTCCATG -3'
(R):5'- GTGCCACAGTGTTAGGAAGC -3'
Sequencing Primer
(F):5'- CCTCACAGGATGTCCATGTTAGTAG -3'
(R):5'- GGTAGACACCATCTTTTCCAAAAAGG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation