Incidental Mutation 'IGL01894:Gpa33'
| ID |
179326 |
| 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 # |
IGL01894
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
165957807-165994079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 165992785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 299
(D299E)
|
| 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: D299E
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000060147
Gene: ENSMUSG00000000544
AA Change: D299E
| 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: D299E
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125903
Gene: ENSMUSG00000000544
AA Change: D299E
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
A |
8: 56,324,865 (GRCm39) |
I530L |
probably benign |
Het |
| Adam3 |
T |
C |
8: 25,177,954 (GRCm39) |
D653G |
probably benign |
Het |
| Car13 |
T |
C |
3: 14,726,525 (GRCm39) |
F227S |
probably damaging |
Het |
| Cdc27 |
T |
C |
11: 104,417,747 (GRCm39) |
N300S |
probably benign |
Het |
| Fat3 |
C |
T |
9: 16,287,145 (GRCm39) |
V793I |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Kif5a |
C |
T |
10: 127,098,648 (GRCm39) |
V40I |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,705,121 (GRCm39) |
H1455R |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,122,828 (GRCm39) |
K751E |
possibly damaging |
Het |
| Nek5 |
T |
A |
8: 22,603,835 (GRCm39) |
H114L |
probably damaging |
Het |
| Nipal1 |
G |
A |
5: 72,820,882 (GRCm39) |
A37T |
probably benign |
Het |
| Or13a24 |
T |
C |
7: 140,154,683 (GRCm39) |
Y206H |
possibly damaging |
Het |
| Or5b101 |
G |
T |
19: 13,005,649 (GRCm39) |
L15I |
probably damaging |
Het |
| Or5b96 |
T |
C |
19: 12,867,007 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
T |
C |
3: 32,504,175 (GRCm39) |
Y622H |
possibly damaging |
Het |
| Pknox2 |
G |
T |
9: 36,835,038 (GRCm39) |
H144N |
probably damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,559,397 (GRCm39) |
Y526C |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,227,557 (GRCm39) |
D54G |
probably damaging |
Het |
| Rpn2 |
C |
T |
2: 157,136,093 (GRCm39) |
T167I |
probably benign |
Het |
| Slc22a30 |
G |
T |
19: 8,364,021 (GRCm39) |
H218Q |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,113,664 (GRCm39) |
S878P |
probably benign |
Het |
| Tmem184c |
A |
T |
8: 78,323,775 (GRCm39) |
C362* |
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wscd2 |
C |
T |
5: 113,710,357 (GRCm39) |
R294W |
probably damaging |
Het |
|
| Other mutations in Gpa33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03051:Gpa33
|
APN |
1 |
165,992,790 (GRCm39) |
missense |
probably benign |
|
|
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 |
2014-05-07 |
Incidental Mutation