Incidental Mutation 'IGL00766:Havcr2'
| ID |
12658 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Havcr2
|
| Ensembl Gene |
ENSMUSG00000020399 |
| Gene Name |
hepatitis A virus cellular receptor 2 |
| Synonyms |
TIM-3, Tim3, Timd3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00766
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
46345762-46372082 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46360373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 151
(V151A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104852
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020668]
[ENSMUST00000109229]
|
| AlphaFold |
Q8VIM0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020668
AA Change: V200A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020668
Gene: ENSMUSG00000020399
AA Change: V200A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
IG
|
23 |
131 |
9.8e-6 |
SMART |
|
transmembrane domain
|
193 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
277 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109229
AA Change: V151A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104852
Gene: ENSMUSG00000020399
AA Change: V151A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:V-set
|
12 |
80 |
8.6e-9 |
PFAM |
|
transmembrane domain
|
144 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
228 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the immunoglobulin superfamily, and TIM family of proteins. CD4-positive T helper lymphocytes can be divided into types 1 (Th1) and 2 (Th2) on the basis of their cytokine secretion patterns. Th1 cells are involved in cell-mediated immunity to intracellular pathogens and delayed-type hypersensitivity reactions, whereas, Th2 cells are involved in the control of extracellular helminthic infections and the promotion of atopic and allergic diseases. This protein is a Th1-specific cell surface protein that regulates macrophage activation, and inhibits Th1-mediated auto- and alloimmune responses, and promotes immunological tolerance. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal thymic development and show no evidence of autoimmunity or lymphoproliferation. Mice homozygous for a different targeted allele exhibit improved survival following influenza infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
A |
5: 81,942,415 (GRCm39) |
D1379E |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,354,260 (GRCm39) |
T1794A |
probably damaging |
Het |
| Ano2 |
A |
T |
6: 125,990,216 (GRCm39) |
D779V |
probably damaging |
Het |
| Ap3b1 |
G |
T |
13: 94,679,392 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,270,012 (GRCm39) |
V379A |
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 15,025,006 (GRCm39) |
Y398C |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,268,286 (GRCm39) |
R800C |
probably benign |
Het |
| Ccdc88a |
T |
A |
11: 29,451,046 (GRCm39) |
H306Q |
probably damaging |
Het |
| Cckar |
C |
A |
5: 53,857,378 (GRCm39) |
R344L |
probably damaging |
Het |
| Cplane1 |
A |
T |
15: 8,281,648 (GRCm39) |
Q2829L |
unknown |
Het |
| Egfem1 |
A |
G |
3: 29,711,302 (GRCm39) |
I237V |
possibly damaging |
Het |
| Erlec1 |
T |
A |
11: 30,900,623 (GRCm39) |
K143* |
probably null |
Het |
| Glyat |
T |
G |
19: 12,628,626 (GRCm39) |
D140E |
probably benign |
Het |
| Grhl2 |
T |
C |
15: 37,336,545 (GRCm39) |
F50L |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,358,023 (GRCm39) |
Y2368C |
probably damaging |
Het |
| Ift80 |
A |
T |
3: 68,821,986 (GRCm39) |
Y686* |
probably null |
Het |
| Itga7 |
G |
T |
10: 128,777,723 (GRCm39) |
D235Y |
possibly damaging |
Het |
| Kctd3 |
C |
T |
1: 188,727,973 (GRCm39) |
V199I |
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,615,443 (GRCm39) |
|
probably benign |
Het |
| Myoz2 |
G |
A |
3: 122,810,193 (GRCm39) |
|
probably benign |
Het |
| Nepro |
C |
T |
16: 44,549,668 (GRCm39) |
Q43* |
probably null |
Het |
| Ophn1 |
T |
C |
X: 97,846,720 (GRCm39) |
D74G |
probably damaging |
Het |
| Plau |
A |
G |
14: 20,888,635 (GRCm39) |
N84S |
probably benign |
Het |
| Rprd2 |
A |
G |
3: 95,672,691 (GRCm39) |
V904A |
possibly damaging |
Het |
| Satl1 |
T |
C |
X: 111,315,466 (GRCm39) |
K330E |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,814,570 (GRCm39) |
|
probably benign |
Het |
| Slc5a5 |
A |
C |
8: 71,341,181 (GRCm39) |
I386S |
probably damaging |
Het |
| Slco1c1 |
T |
C |
6: 141,493,609 (GRCm39) |
Y264H |
probably damaging |
Het |
| Sulf1 |
A |
C |
1: 12,890,687 (GRCm39) |
D375A |
probably damaging |
Het |
| Tesl1 |
C |
A |
X: 23,772,838 (GRCm39) |
A113E |
probably benign |
Het |
| Tgfbi |
A |
G |
13: 56,778,408 (GRCm39) |
D393G |
probably benign |
Het |
| Trim59 |
A |
C |
3: 68,944,712 (GRCm39) |
D209E |
probably benign |
Het |
| Ubqln3 |
G |
T |
7: 103,792,031 (GRCm39) |
Q20K |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,168,077 (GRCm39) |
D2808G |
probably damaging |
Het |
|
| Other mutations in Havcr2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01122:Havcr2
|
APN |
11 |
46,347,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01383:Havcr2
|
APN |
11 |
46,360,375 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02303:Havcr2
|
APN |
11 |
46,370,108 (GRCm39) |
splice site |
probably benign |
|
|
IGL02665:Havcr2
|
APN |
11 |
46,370,221 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1688:Havcr2
|
UTSW |
11 |
46,370,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Havcr2
|
UTSW |
11 |
46,345,844 (GRCm39) |
missense |
unknown |
|
|
R1945:Havcr2
|
UTSW |
11 |
46,345,877 (GRCm39) |
missense |
unknown |
|
|
R4429:Havcr2
|
UTSW |
11 |
46,347,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5846:Havcr2
|
UTSW |
11 |
46,360,343 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5893:Havcr2
|
UTSW |
11 |
46,347,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6744:Havcr2
|
UTSW |
11 |
46,345,887 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6915:Havcr2
|
UTSW |
11 |
46,366,738 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7262:Havcr2
|
UTSW |
11 |
46,360,388 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7560:Havcr2
|
UTSW |
11 |
46,349,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7739:Havcr2
|
UTSW |
11 |
46,347,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8032:Havcr2
|
UTSW |
11 |
46,370,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8151:Havcr2
|
UTSW |
11 |
46,366,722 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9124:Havcr2
|
UTSW |
11 |
46,360,388 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9420:Havcr2
|
UTSW |
11 |
46,347,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9560:Havcr2
|
UTSW |
11 |
46,347,164 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Posted On |
2012-12-06 |
Incidental Mutation