Incidental Mutation 'IGL03132:Gpa33'
| ID |
410367 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpa33
|
| Ensembl Gene |
ENSMUSG00000000544 |
| Gene Name |
glycoprotein A33 transmembrane |
| Synonyms |
2010310L10Rik, 2210401D16Rik, A33 antigen |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03132
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
165957807-165994079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 165980218 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 94
(D94N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060833]
[ENSMUST00000166159]
[ENSMUST00000166860]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000027847
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060833
AA Change: D94N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000060147
Gene: ENSMUSG00000000544
AA Change: D94N
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
38 |
119 |
1.26e-9 |
SMART |
|
IGc2
|
153 |
218 |
3.03e-12 |
SMART |
|
transmembrane domain
|
235 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
306 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166159
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166860
AA Change: D94N
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000125903
Gene: ENSMUSG00000000544
AA Change: D94N
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
38 |
119 |
1.26e-9 |
SMART |
|
IGc2
|
153 |
218 |
3.03e-12 |
SMART |
|
transmembrane domain
|
235 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
306 |
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 glycoprotein encoded by this gene is a cell surface antigen that is expressed in greater than 95% of human colon cancers. The open reading frame encodes a 319-amino acid polypeptide having a putative secretory signal sequence and 3 potential glycosylation sites. The predicted mature protein has a 213-amino acid extracellular region, a single transmembrane domain, and a 62-amino acid intracellular tail. The sequence of the extracellular region contains 2 domains characteristic of the CD2 subgroup of the immunoglobulin (Ig) superfamily. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to induced colitis and impaired oral tolerance to ovalbumin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
G |
A |
6: 88,815,941 (GRCm39) |
R177C |
probably benign |
Het |
| Adam21 |
C |
A |
12: 81,607,148 (GRCm39) |
G205* |
probably null |
Het |
| Baz2b |
T |
A |
2: 59,738,097 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,731,615 (GRCm39) |
G939D |
probably damaging |
Het |
| Csf1r |
A |
G |
18: 61,261,171 (GRCm39) |
E749G |
probably benign |
Het |
| Dnm3 |
C |
T |
1: 161,838,674 (GRCm39) |
|
probably null |
Het |
| Dsg3 |
A |
G |
18: 20,657,653 (GRCm39) |
D241G |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,295,722 (GRCm39) |
S6015P |
probably benign |
Het |
| Dvl2 |
T |
C |
11: 69,896,514 (GRCm39) |
S183P |
probably benign |
Het |
| Exoc6b |
T |
C |
6: 84,768,246 (GRCm39) |
N699S |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,144,746 (GRCm39) |
R4043G |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,232,819 (GRCm39) |
T278S |
possibly damaging |
Het |
| Gm2a |
T |
A |
11: 54,994,474 (GRCm39) |
I48N |
probably damaging |
Het |
| Gorasp2 |
T |
C |
2: 70,514,379 (GRCm39) |
V232A |
probably benign |
Het |
| Il1rap |
A |
T |
16: 26,498,869 (GRCm39) |
S123C |
probably damaging |
Het |
| Kctd17 |
T |
C |
15: 78,319,887 (GRCm39) |
S102P |
probably damaging |
Het |
| Lamb1 |
A |
G |
12: 31,350,333 (GRCm39) |
|
probably null |
Het |
| Mfsd1 |
T |
A |
3: 67,495,273 (GRCm39) |
I131K |
possibly damaging |
Het |
| Pkhd1l1 |
G |
A |
15: 44,438,013 (GRCm39) |
C3576Y |
probably damaging |
Het |
| Pla2g4a |
A |
T |
1: 149,778,035 (GRCm39) |
|
probably benign |
Het |
| Ptpn11 |
T |
A |
5: 121,272,878 (GRCm39) |
D575V |
possibly damaging |
Het |
| Reck |
A |
T |
4: 43,938,898 (GRCm39) |
R755* |
probably null |
Het |
| Scgb2b21 |
A |
G |
7: 33,219,299 (GRCm39) |
V35A |
possibly damaging |
Het |
| Srpra |
G |
A |
9: 35,125,574 (GRCm39) |
|
probably null |
Het |
| Stk11ip |
T |
C |
1: 75,512,733 (GRCm39) |
S1025P |
probably benign |
Het |
| Tmprss9 |
G |
A |
10: 80,730,699 (GRCm39) |
V742M |
probably damaging |
Het |
| Trh |
T |
C |
6: 92,220,755 (GRCm39) |
T36A |
probably benign |
Het |
| Trim35 |
A |
G |
14: 66,546,595 (GRCm39) |
E454G |
probably damaging |
Het |
| Vmn2r99 |
C |
T |
17: 19,598,485 (GRCm39) |
Q170* |
probably null |
Het |
|
| Other mutations in Gpa33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01894:Gpa33
|
APN |
1 |
165,992,785 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03051:Gpa33
|
APN |
1 |
165,992,790 (GRCm39) |
missense |
probably benign |
|
|
R0433:Gpa33
|
UTSW |
1 |
165,991,330 (GRCm39) |
splice site |
probably benign |
|
|
R0892:Gpa33
|
UTSW |
1 |
165,985,211 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1854:Gpa33
|
UTSW |
1 |
165,992,759 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4233:Gpa33
|
UTSW |
1 |
165,974,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4354:Gpa33
|
UTSW |
1 |
165,991,404 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5652:Gpa33
|
UTSW |
1 |
165,992,714 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5667:Gpa33
|
UTSW |
1 |
165,974,360 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5671:Gpa33
|
UTSW |
1 |
165,974,360 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5884:Gpa33
|
UTSW |
1 |
165,980,329 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5918:Gpa33
|
UTSW |
1 |
165,958,107 (GRCm39) |
splice site |
probably null |
|
|
R7402:Gpa33
|
UTSW |
1 |
165,980,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8485:Gpa33
|
UTSW |
1 |
165,992,261 (GRCm39) |
missense |
probably benign |
|
|
R8906:Gpa33
|
UTSW |
1 |
165,974,216 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8924:Gpa33
|
UTSW |
1 |
165,980,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Gpa33
|
UTSW |
1 |
165,992,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9248:Gpa33
|
UTSW |
1 |
165,991,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9255:Gpa33
|
UTSW |
1 |
165,980,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9288:Gpa33
|
UTSW |
1 |
165,980,304 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1176:Gpa33
|
UTSW |
1 |
165,992,240 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation