Incidental Mutation 'R4354:Gpa33'
| ID |
327442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpa33
|
| Ensembl Gene |
ENSMUSG00000000544 |
| Gene Name |
glycoprotein A33 transmembrane |
| Synonyms |
2010310L10Rik, 2210401D16Rik, A33 antigen |
| MMRRC Submission |
041107-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4354 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
165957807-165994079 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 165991404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 212
(T212A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125903
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060833]
[ENSMUST00000166860]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060833
AA Change: T212A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000060147
Gene: ENSMUSG00000000544
AA Change: T212A
| 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 |
possibly damaging
Transcript: ENSMUST00000166860
AA Change: T212A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125903
Gene: ENSMUSG00000000544
AA Change: T212A
| 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 |
|
| Meta Mutation Damage Score |
0.1361 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
97% (37/38) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Abca8b |
A |
C |
11: 109,862,518 (GRCm39) |
S416A |
probably benign |
Het |
| Abcb4 |
A |
T |
5: 8,968,771 (GRCm39) |
N370I |
probably benign |
Het |
| Abi3bp |
T |
C |
16: 56,353,314 (GRCm39) |
F81S |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,143,710 (GRCm39) |
C83Y |
probably damaging |
Het |
| Adamtsl1 |
A |
T |
4: 86,074,921 (GRCm39) |
H96L |
probably damaging |
Het |
| Alms1-ps1 |
C |
T |
6: 85,732,617 (GRCm39) |
|
noncoding transcript |
Het |
| AU040320 |
A |
G |
4: 126,748,192 (GRCm39) |
|
probably benign |
Het |
| Chd1 |
T |
A |
17: 17,610,263 (GRCm39) |
H472Q |
probably benign |
Het |
| Chgb |
A |
T |
2: 132,635,864 (GRCm39) |
D602V |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Hspg2 |
C |
A |
4: 137,196,222 (GRCm39) |
A17E |
probably benign |
Het |
| Irf7 |
T |
C |
7: 140,845,183 (GRCm39) |
R8G |
probably damaging |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,483,123 (GRCm39) |
Y1235H |
probably damaging |
Het |
| Mon2 |
T |
C |
10: 122,862,888 (GRCm39) |
T680A |
probably benign |
Het |
| Nab1 |
A |
T |
1: 52,529,855 (GRCm39) |
L14Q |
probably damaging |
Het |
| Neu4 |
C |
T |
1: 93,952,279 (GRCm39) |
T216I |
probably damaging |
Het |
| Nle1 |
A |
G |
11: 82,797,257 (GRCm39) |
C152R |
possibly damaging |
Het |
| Nprl3 |
T |
A |
11: 32,184,906 (GRCm39) |
M368L |
probably benign |
Het |
| Nudt9 |
A |
G |
5: 104,205,977 (GRCm39) |
K129E |
probably damaging |
Het |
| Or5c1 |
T |
C |
2: 37,221,888 (GRCm39) |
L43P |
probably damaging |
Het |
| Pdzd8 |
T |
C |
19: 59,333,913 (GRCm39) |
D36G |
probably benign |
Het |
| Pga5 |
C |
T |
19: 10,652,190 (GRCm39) |
|
probably null |
Het |
| Pold3 |
T |
C |
7: 99,749,824 (GRCm39) |
K47E |
possibly damaging |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,843,378 (GRCm39) |
I251V |
probably benign |
Het |
| Susd2 |
G |
T |
10: 75,475,562 (GRCm39) |
F447L |
probably damaging |
Het |
| Tbc1d7 |
T |
C |
13: 43,323,344 (GRCm39) |
K16E |
probably damaging |
Het |
| Tlr8 |
T |
G |
X: 166,025,868 (GRCm39) |
Q994P |
probably damaging |
Het |
| Ube2j1 |
T |
C |
4: 33,049,682 (GRCm39) |
Y227H |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGAGGTGATTTTCCTTCCATCAC -3'
(R):5'- AGAGGATCTGGGCTTCTCAG -3'
Sequencing Primer
(F):5'- GTGATTTTCCTTCCATCACCGATG -3'
(R):5'- ATCTGGGCTTCTCAGGGTGAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation