Incidental Mutation 'R0105:Treml2'
| ID |
17396 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Treml2
|
| Ensembl Gene |
ENSMUSG00000071068 |
| Gene Name |
triggering receptor expressed on myeloid cells-like 2 |
| Synonyms |
LOC328833 |
| MMRRC Submission |
038391-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R0105 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
48606526-48619561 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 48609856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 96
(T96I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170941]
|
| AlphaFold |
Q2LA85 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170941
AA Change: T96I
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000128215
Gene: ENSMUSG00000071068
AA Change: T96I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG
|
31 |
129 |
3.13e-5 |
SMART |
|
low complexity region
|
181 |
199 |
N/A |
INTRINSIC |
|
transmembrane domain
|
268 |
290 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.8266 |
| Coding Region Coverage |
- 1x: 85.3%
- 3x: 77.7%
- 10x: 47.9%
- 20x: 15.1%
|
| Validation Efficiency |
96% (53/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TREML2 is located in a gene cluster on chromosome 6 with the single Ig variable (IgV) domain activating receptors TREM1 (MIM 605085) and TREM2 (MIM 605086), but it has distinct structural and functional properties (Allcock et al., 2003 [PubMed 12645956]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530053G22Rik |
T |
C |
6: 60,379,137 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy9 |
A |
G |
16: 4,106,252 (GRCm39) |
V954A |
probably damaging |
Het |
| Aldh8a1 |
T |
A |
10: 21,271,438 (GRCm39) |
M388K |
probably damaging |
Het |
| Cdsn |
A |
C |
17: 35,867,035 (GRCm39) |
R521S |
possibly damaging |
Het |
| Cog3 |
A |
G |
14: 75,959,580 (GRCm39) |
S591P |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,216,876 (GRCm39) |
V698D |
probably benign |
Het |
| Crmp1 |
T |
A |
5: 37,441,479 (GRCm39) |
D520E |
probably damaging |
Het |
| Ddhd1 |
T |
C |
14: 45,848,147 (GRCm39) |
D507G |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,132,262 (GRCm39) |
A1147T |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,111 (GRCm39) |
S1030P |
probably benign |
Het |
| Fam20b |
T |
C |
1: 156,518,140 (GRCm39) |
E218G |
probably damaging |
Het |
| Gab2 |
T |
C |
7: 96,948,279 (GRCm39) |
Y290H |
probably damaging |
Het |
| Gm973 |
A |
G |
1: 59,621,633 (GRCm39) |
Q591R |
probably null |
Het |
| Gsdmc2 |
T |
C |
15: 63,700,026 (GRCm39) |
T249A |
probably benign |
Het |
| Il15ra |
T |
A |
2: 11,735,459 (GRCm39) |
|
probably null |
Het |
| Isy1 |
G |
A |
6: 87,796,167 (GRCm39) |
R257W |
probably damaging |
Het |
| Krt76 |
T |
C |
15: 101,793,347 (GRCm39) |
T564A |
unknown |
Het |
| Lrrk1 |
G |
T |
7: 65,942,089 (GRCm39) |
D716E |
probably damaging |
Het |
| Mogat1 |
A |
G |
1: 78,500,307 (GRCm39) |
T124A |
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,568,467 (GRCm39) |
T48A |
possibly damaging |
Het |
| Or4a71 |
T |
C |
2: 89,358,707 (GRCm39) |
T16A |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,593,956 (GRCm39) |
Q1386* |
probably null |
Het |
| Pla2r1 |
T |
C |
2: 60,345,325 (GRCm39) |
R344G |
possibly damaging |
Het |
| Plekhg4 |
G |
A |
8: 106,108,644 (GRCm39) |
V1202M |
possibly damaging |
Het |
| Ppil4 |
A |
G |
10: 7,674,210 (GRCm39) |
Y118C |
probably damaging |
Het |
| Ptpn4 |
C |
T |
1: 119,615,335 (GRCm39) |
|
probably null |
Het |
| Reln |
G |
A |
5: 22,253,813 (GRCm39) |
R600W |
probably damaging |
Het |
| Sumf2 |
T |
A |
5: 129,878,735 (GRCm39) |
|
probably benign |
Het |
| Tex10 |
C |
A |
4: 48,468,957 (GRCm39) |
V73F |
probably damaging |
Het |
| Tgm5 |
C |
A |
2: 120,907,493 (GRCm39) |
G77W |
probably damaging |
Het |
| Tnfrsf21 |
T |
A |
17: 43,351,082 (GRCm39) |
|
probably null |
Het |
| Zcchc17 |
T |
A |
4: 130,243,099 (GRCm39) |
D28V |
probably benign |
Het |
| Zkscan6 |
T |
A |
11: 65,712,811 (GRCm39) |
L248Q |
probably damaging |
Het |
|
| Other mutations in Treml2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01767:Treml2
|
APN |
17 |
48,609,838 (GRCm39) |
missense |
probably benign |
|
|
IGL02797:Treml2
|
APN |
17 |
48,609,739 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Cottonwood
|
UTSW |
17 |
48,609,775 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
poplar
|
UTSW |
17 |
48,609,762 (GRCm39) |
nonsense |
probably null |
|
|
R0105:Treml2
|
UTSW |
17 |
48,609,856 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0670:Treml2
|
UTSW |
17 |
48,614,864 (GRCm39) |
splice site |
probably null |
|
|
R1538:Treml2
|
UTSW |
17 |
48,609,786 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1796:Treml2
|
UTSW |
17 |
48,616,530 (GRCm39) |
makesense |
probably null |
|
|
R4396:Treml2
|
UTSW |
17 |
48,615,142 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4679:Treml2
|
UTSW |
17 |
48,615,203 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4687:Treml2
|
UTSW |
17 |
48,616,425 (GRCm39) |
splice site |
probably null |
|
|
R4801:Treml2
|
UTSW |
17 |
48,616,187 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4802:Treml2
|
UTSW |
17 |
48,616,187 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5314:Treml2
|
UTSW |
17 |
48,607,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6791:Treml2
|
UTSW |
17 |
48,616,247 (GRCm39) |
missense |
probably benign |
0.24 |
|
R6818:Treml2
|
UTSW |
17 |
48,609,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6958:Treml2
|
UTSW |
17 |
48,615,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Treml2
|
UTSW |
17 |
48,616,155 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7535:Treml2
|
UTSW |
17 |
48,609,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7850:Treml2
|
UTSW |
17 |
48,615,168 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8049:Treml2
|
UTSW |
17 |
48,609,762 (GRCm39) |
nonsense |
probably null |
|
|
R8998:Treml2
|
UTSW |
17 |
48,609,775 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9012:Treml2
|
UTSW |
17 |
48,615,090 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9208:Treml2
|
UTSW |
17 |
48,614,922 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-01-31 |
Incidental Mutation