Incidental Mutation 'IGL03051:Gpa33'
| ID |
409047 |
| 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 # |
IGL03051
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
165957807-165994079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 165992790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 301
(H301R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060833]
[ENSMUST00000166860]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060833
AA Change: H301R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000060147
Gene: ENSMUSG00000000544
AA Change: H301R
| 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: ENSMUST00000166860
AA Change: H301R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125903
Gene: ENSMUSG00000000544
AA Change: H301R
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
G |
T |
6: 86,964,283 (GRCm39) |
|
probably benign |
Het |
| Abhd14a |
A |
T |
9: 106,321,128 (GRCm39) |
F76I |
possibly damaging |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Akap13 |
T |
A |
7: 75,260,233 (GRCm39) |
C149* |
probably null |
Het |
| Appbp2 |
A |
T |
11: 85,082,565 (GRCm39) |
D555E |
possibly damaging |
Het |
| Arhgap25 |
T |
C |
6: 87,472,896 (GRCm39) |
Q87R |
probably null |
Het |
| Baz1b |
T |
A |
5: 135,246,079 (GRCm39) |
N509K |
probably benign |
Het |
| Ccn4 |
T |
A |
15: 66,778,399 (GRCm39) |
C73* |
probably null |
Het |
| Ces5a |
C |
A |
8: 94,255,226 (GRCm39) |
G156C |
probably damaging |
Het |
| Chtf18 |
G |
A |
17: 25,939,938 (GRCm39) |
R723W |
probably damaging |
Het |
| Clec4e |
A |
G |
6: 123,266,692 (GRCm39) |
S6P |
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,769,696 (GRCm39) |
I468V |
probably damaging |
Het |
| Epb41l4a |
A |
T |
18: 34,007,825 (GRCm39) |
Y233N |
probably damaging |
Het |
| Fam210b |
C |
T |
2: 172,194,612 (GRCm39) |
H155Y |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,272,943 (GRCm39) |
C770* |
probably null |
Het |
| Gpr39 |
T |
A |
1: 125,605,485 (GRCm39) |
C138S |
probably damaging |
Het |
| Gtf2i |
T |
A |
5: 134,271,768 (GRCm39) |
K858* |
probably null |
Het |
| Ighv7-1 |
A |
T |
12: 113,860,576 (GRCm39) |
|
probably benign |
Het |
| Iglv1 |
T |
C |
16: 18,903,973 (GRCm39) |
T49A |
possibly damaging |
Het |
| Kif17 |
A |
C |
4: 138,016,565 (GRCm39) |
D416A |
probably damaging |
Het |
| Mib2 |
T |
C |
4: 155,741,747 (GRCm39) |
T431A |
probably damaging |
Het |
| Mpz |
G |
A |
1: 170,986,380 (GRCm39) |
R98H |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,606,522 (GRCm39) |
E337G |
probably benign |
Het |
| Odam |
G |
A |
5: 88,040,335 (GRCm39) |
|
probably benign |
Het |
| Or1e1f |
T |
A |
11: 73,855,860 (GRCm39) |
L142H |
probably benign |
Het |
| Parp2 |
T |
C |
14: 51,056,805 (GRCm39) |
|
probably benign |
Het |
| Pcdh7 |
T |
G |
5: 58,286,415 (GRCm39) |
S1164A |
probably damaging |
Het |
| Pkp4 |
G |
T |
2: 59,142,106 (GRCm39) |
A470S |
probably benign |
Het |
| Plin4 |
A |
T |
17: 56,412,417 (GRCm39) |
M538K |
possibly damaging |
Het |
| Prex2 |
T |
C |
1: 11,212,889 (GRCm39) |
V624A |
probably damaging |
Het |
| Rps6ka5 |
A |
C |
12: 100,582,250 (GRCm39) |
|
probably null |
Het |
| Simc1 |
T |
C |
13: 54,674,036 (GRCm39) |
S795P |
probably benign |
Het |
| Slc35b4 |
A |
T |
6: 34,137,406 (GRCm39) |
|
probably null |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Syt14 |
T |
C |
1: 192,615,528 (GRCm39) |
N486S |
probably benign |
Het |
| Trim59 |
T |
C |
3: 68,944,206 (GRCm39) |
N378S |
probably benign |
Het |
| Wdr17 |
T |
A |
8: 55,104,349 (GRCm39) |
D908V |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,716,875 (GRCm39) |
|
probably benign |
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 |
|
IGL03132:Gpa33
|
APN |
1 |
165,980,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
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