Incidental Mutation 'R7785:Btnl2'
| ID |
599514 |
| 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 |
045841-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7785 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34573796-34588469 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34580137 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 223
(H223Q)
|
| 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: H223Q
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000025198
Gene: ENSMUSG00000024340
AA Change: H223Q
| 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: H223Q
PolyPhen 2
Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000137048
Gene: ENSMUSG00000024340
AA Change: H223Q
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
91% (40/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,262,617 (GRCm39) |
F70L |
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,965,032 (GRCm39) |
|
probably null |
Het |
| Adamts5 |
T |
C |
16: 85,659,892 (GRCm39) |
D800G |
probably damaging |
Het |
| Afm |
T |
C |
5: 90,698,032 (GRCm39) |
V478A |
possibly damaging |
Het |
| Akap7 |
T |
A |
10: 25,096,559 (GRCm39) |
K233M |
probably damaging |
Het |
| Apbb1 |
T |
C |
7: 105,216,630 (GRCm39) |
N61S |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,689,921 (GRCm39) |
S604T |
probably damaging |
Het |
| Bcl2l14 |
G |
T |
6: 134,409,223 (GRCm39) |
V266F |
possibly damaging |
Het |
| Cap2 |
A |
G |
13: 46,789,224 (GRCm39) |
E255G |
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,812,095 (GRCm39) |
F1366Y |
possibly damaging |
Het |
| Cryl1 |
A |
T |
14: 57,512,938 (GRCm39) |
S310T |
probably benign |
Het |
| Cyp2c69 |
A |
G |
19: 39,839,610 (GRCm39) |
C338R |
probably damaging |
Het |
| Dclre1c |
C |
T |
2: 3,425,273 (GRCm39) |
Q7* |
probably null |
Het |
| Dhcr7 |
A |
G |
7: 143,399,209 (GRCm39) |
E193G |
probably damaging |
Het |
| Dnaaf10 |
T |
A |
11: 17,179,785 (GRCm39) |
V262E |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,833,345 (GRCm39) |
K652E |
probably damaging |
Het |
| Emilin3 |
A |
T |
2: 160,752,694 (GRCm39) |
C85* |
probably null |
Het |
| Erp44 |
G |
A |
4: 48,243,531 (GRCm39) |
P26S |
probably benign |
Het |
| Fxr1 |
A |
G |
3: 34,100,403 (GRCm39) |
I121V |
|
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gpc5 |
A |
G |
14: 115,654,632 (GRCm39) |
N484S |
probably benign |
Het |
| Grm8 |
A |
G |
6: 27,618,636 (GRCm39) |
V402A |
probably damaging |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,387,917 (GRCm39) |
L910P |
probably damaging |
Het |
| Klra2 |
A |
T |
6: 131,222,253 (GRCm39) |
F13I |
possibly damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,111,571 (GRCm39) |
S764P |
probably benign |
Het |
| Ndufs1 |
T |
C |
1: 63,186,558 (GRCm39) |
D637G |
probably damaging |
Het |
| Nnmt |
G |
A |
9: 48,503,309 (GRCm39) |
S239F |
probably benign |
Het |
| Pdcd11 |
A |
G |
19: 47,093,125 (GRCm39) |
I468V |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,406,965 (GRCm39) |
W2401R |
probably damaging |
Het |
| Plec |
C |
A |
15: 76,090,029 (GRCm39) |
V104F |
unknown |
Het |
| Polq |
A |
G |
16: 36,848,239 (GRCm39) |
Y282C |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,265,996 (GRCm39) |
V590E |
probably damaging |
Het |
| Prr27 |
T |
C |
5: 87,991,131 (GRCm39) |
S248P |
probably benign |
Het |
| Ros1 |
T |
C |
10: 52,038,944 (GRCm39) |
E351G |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,645,622 (GRCm39) |
I111V |
probably benign |
Het |
| Slc35a1 |
A |
G |
4: 34,675,148 (GRCm39) |
L130S |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,425,029 (GRCm39) |
L420P |
probably damaging |
Het |
| Sp140 |
T |
A |
1: 85,547,819 (GRCm39) |
I182K |
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
C |
A |
11: 73,168,558 (GRCm39) |
H42N |
probably benign |
Het |
| Zan |
A |
G |
5: 137,427,405 (GRCm39) |
S2411P |
unknown |
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 |
|
|
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 |
|
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'- GAGGTCCAGCTTGTATGCAC -3'
(R):5'- CTGTGTAGCAAAATTAACACAGTGG -3'
Sequencing Primer
(F):5'- TTGTATGCACGTCCCGAG -3'
(R):5'- AAAGAAGAGTTGCTGCTG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation