Incidental Mutation 'R3124:Cd80'
| ID |
264212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd80
|
| Ensembl Gene |
ENSMUSG00000075122 |
| Gene Name |
CD80 antigen |
| Synonyms |
B7.1, Ly-53, Cd28l, Ly53, B7-1 |
| MMRRC Submission |
040597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R3124 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
38277793-38316682 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38294255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 46
(V46E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099816]
[ENSMUST00000231716]
[ENSMUST00000232409]
|
| AlphaFold |
Q00609 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099816
AA Change: V46E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097404
Gene: ENSMUSG00000075122
AA Change: V46E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
31 |
N/A |
INTRINSIC |
|
IG
|
39 |
138 |
5.08e-5 |
SMART |
|
Pfam:Ig_3
|
140 |
223 |
3.5e-5 |
PFAM |
|
Pfam:C2-set_2
|
145 |
230 |
1.4e-20 |
PFAM |
|
transmembrane domain
|
249 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231716
AA Change: V46E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232409
AA Change: V46E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.8721 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane receptor that is activated by the binding of CD28 or CTLA-4. The activated protein induces T-cell proliferation and cytokine production. This protein can act as a receptor for adenovirus subgroup B and may play a role in lupus neuropathy. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous mutation of this gene results in a 70% reduction in the mixed lymphocyte response in LPS- and dextran sulfate-stimulated B cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
G |
A |
2: 181,136,319 (GRCm39) |
R407H |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Cadm1 |
A |
G |
9: 47,710,775 (GRCm39) |
E226G |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
| Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
| Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
| Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
| Drd3 |
T |
C |
16: 43,643,155 (GRCm39) |
F464L |
probably damaging |
Het |
| Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
| Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
| Fam91a1 |
A |
G |
15: 58,293,738 (GRCm39) |
I101V |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
| Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
| Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
| Iglc3 |
T |
C |
16: 18,884,345 (GRCm39) |
|
probably benign |
Het |
| Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,518,774 (GRCm39) |
D1860G |
probably damaging |
Het |
| Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
| Myo1h |
A |
G |
5: 114,466,860 (GRCm39) |
I303V |
probably benign |
Het |
| Nipsnap2 |
G |
A |
5: 129,825,098 (GRCm39) |
|
probably null |
Het |
| Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
| Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
| Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Skil |
A |
G |
3: 31,151,487 (GRCm39) |
N3S |
probably benign |
Het |
| Tas2r129 |
A |
G |
6: 132,928,411 (GRCm39) |
N116S |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trim12a |
G |
T |
7: 103,950,063 (GRCm39) |
T292K |
probably benign |
Het |
| Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
| Trmt13 |
T |
C |
3: 116,383,893 (GRCm39) |
I104V |
probably benign |
Het |
| Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
| Vmn1r87 |
A |
G |
7: 12,865,493 (GRCm39) |
Y265H |
probably damaging |
Het |
| Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly damaging |
Het |
|
| Other mutations in Cd80 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02524:Cd80
|
APN |
16 |
38,303,045 (GRCm39) |
missense |
probably benign |
0.41 |
|
Prod
|
UTSW |
16 |
38,294,391 (GRCm39) |
nonsense |
probably null |
|
|
FR4304:Cd80
|
UTSW |
16 |
38,306,677 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Cd80
|
UTSW |
16 |
38,306,678 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Cd80
|
UTSW |
16 |
38,306,681 (GRCm39) |
small insertion |
probably benign |
|
|
R0605:Cd80
|
UTSW |
16 |
38,303,056 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1213:Cd80
|
UTSW |
16 |
38,294,245 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1905:Cd80
|
UTSW |
16 |
38,294,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5154:Cd80
|
UTSW |
16 |
38,294,342 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5316:Cd80
|
UTSW |
16 |
38,294,239 (GRCm39) |
nonsense |
probably null |
|
|
R5730:Cd80
|
UTSW |
16 |
38,303,097 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7022:Cd80
|
UTSW |
16 |
38,306,866 (GRCm39) |
splice site |
probably null |
|
|
R7447:Cd80
|
UTSW |
16 |
38,294,251 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7806:Cd80
|
UTSW |
16 |
38,294,315 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7971:Cd80
|
UTSW |
16 |
38,294,391 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCAAGTTCCAGGACAATCAGAG -3'
(R):5'- ACCAGGCCCAGGATGATAAG -3'
Sequencing Primer
(F):5'- GTTCCAGGACAATCAGAGCTACATAG -3'
(R):5'- ATGATAAGAGAGTAGGTAGTGTTGTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation