Incidental Mutation 'R5725:Cd84'
ID |
452413 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cd84
|
Ensembl Gene |
ENSMUSG00000038147 |
Gene Name |
CD84 antigen |
Synonyms |
SLAMF5, CDw84, A130013D22Rik |
MMRRC Submission |
043343-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5725 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
171667265-171718285 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 171700928 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 230
(F230L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120881
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042302]
[ENSMUST00000136479]
[ENSMUST00000155802]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042302
AA Change: F230L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000047024 Gene: ENSMUSG00000038147 AA Change: F230L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
IG
|
26 |
126 |
3.16e-1 |
SMART |
IG_like
|
137 |
208 |
1.02e1 |
SMART |
transmembrane domain
|
220 |
242 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128189
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136479
AA Change: F230L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000122951 Gene: ENSMUSG00000038147 AA Change: F230L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
IG
|
26 |
126 |
3.16e-1 |
SMART |
IG_like
|
137 |
208 |
1.02e1 |
SMART |
transmembrane domain
|
220 |
242 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155802
AA Change: F230L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000120881 Gene: ENSMUSG00000038147 AA Change: F230L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
IG
|
26 |
126 |
3.16e-1 |
SMART |
IG_like
|
137 |
208 |
1.02e1 |
SMART |
transmembrane domain
|
220 |
242 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane glycoprotein that is a member of the signaling lymphocyte activation molecule (SLAM) family. This family forms a subset of the larger CD2 cell-surface receptor Ig superfamily. The encoded protein is a homophilic adhesion molecule that is expressed in numerous immune cells types and is involved in regulating receptor-mediated signaling in those cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011] PHENOTYPE: Mice homozygous for a knock-out allele of this gene show defects in T follicular helper function and germinal center formation. Mice homozygous for a different knock-out allele display normal platelet physiology and thrombus formation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
A |
12: 71,240,093 (GRCm39) |
R1301H |
probably benign |
Het |
6030468B19Rik |
G |
T |
11: 117,696,883 (GRCm39) |
S201I |
probably damaging |
Het |
Abca13 |
G |
A |
11: 9,527,181 (GRCm39) |
M4531I |
probably benign |
Het |
Abca2 |
A |
G |
2: 25,329,412 (GRCm39) |
M1058V |
probably damaging |
Het |
Agrn |
T |
A |
4: 156,258,332 (GRCm39) |
T938S |
probably benign |
Het |
Aloxe3 |
A |
T |
11: 69,019,480 (GRCm39) |
D131V |
probably null |
Het |
Angptl7 |
C |
A |
4: 148,580,965 (GRCm39) |
A277S |
possibly damaging |
Het |
Ap5z1 |
T |
C |
5: 142,454,731 (GRCm39) |
M244T |
probably damaging |
Het |
Aplp2 |
T |
C |
9: 31,069,110 (GRCm39) |
D573G |
probably damaging |
Het |
Arid5a |
G |
T |
1: 36,358,211 (GRCm39) |
E176* |
probably null |
Het |
Atp8b4 |
A |
T |
2: 126,275,856 (GRCm39) |
N125K |
probably benign |
Het |
Auts2 |
A |
G |
5: 131,468,584 (GRCm39) |
V911A |
probably benign |
Het |
Bahcc1 |
G |
A |
11: 120,165,714 (GRCm39) |
R990H |
probably benign |
Het |
Dtnb |
T |
A |
12: 3,823,566 (GRCm39) |
L584H |
probably damaging |
Het |
Dync2h1 |
A |
C |
9: 7,169,528 (GRCm39) |
S316R |
probably benign |
Het |
Eif3m |
A |
G |
2: 104,844,186 (GRCm39) |
I73T |
probably damaging |
Het |
Emilin3 |
A |
T |
2: 160,750,410 (GRCm39) |
C399* |
probably null |
Het |
Fam118a |
A |
G |
15: 84,929,822 (GRCm39) |
K17E |
probably damaging |
Het |
Fat4 |
A |
G |
3: 38,943,774 (GRCm39) |
N889S |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,273,827 (GRCm39) |
|
probably null |
Het |
Hyls1 |
G |
A |
9: 35,472,480 (GRCm39) |
S312F |
probably benign |
Het |
Igsf21 |
T |
C |
4: 139,762,054 (GRCm39) |
D208G |
probably benign |
Het |
Itgax |
A |
G |
7: 127,747,033 (GRCm39) |
T945A |
possibly damaging |
Het |
Itsn2 |
T |
A |
12: 4,680,767 (GRCm39) |
|
probably benign |
Het |
Kcna4 |
A |
G |
2: 107,127,221 (GRCm39) |
T652A |
possibly damaging |
Het |
Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
Lrp4 |
A |
G |
2: 91,325,240 (GRCm39) |
Y1355C |
probably damaging |
Het |
Mmp9 |
C |
A |
2: 164,791,256 (GRCm39) |
A142E |
possibly damaging |
Het |
Mpeg1 |
T |
C |
19: 12,440,000 (GRCm39) |
V486A |
probably benign |
Het |
Mrgprb3 |
A |
T |
7: 48,293,548 (GRCm39) |
M1K |
probably null |
Het |
Mrtfb |
A |
T |
16: 13,202,174 (GRCm39) |
K146* |
probably null |
Het |
Nacad |
T |
C |
11: 6,551,643 (GRCm39) |
E516G |
probably benign |
Het |
Or5k15 |
G |
A |
16: 58,710,250 (GRCm39) |
T111I |
possibly damaging |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pappa |
T |
A |
4: 65,107,647 (GRCm39) |
V686E |
probably damaging |
Het |
Polr3a |
A |
T |
14: 24,515,455 (GRCm39) |
|
probably null |
Het |
Ppp1r3a |
A |
G |
6: 14,719,348 (GRCm39) |
V522A |
probably benign |
Het |
Rab6b |
T |
A |
9: 103,041,061 (GRCm39) |
F152I |
probably damaging |
Het |
Sacs |
G |
A |
14: 61,448,559 (GRCm39) |
R3535Q |
probably damaging |
Het |
Septin14 |
T |
C |
5: 129,766,630 (GRCm39) |
D317G |
probably damaging |
Het |
Sin3b |
T |
C |
8: 73,452,320 (GRCm39) |
|
probably null |
Het |
Sis |
G |
A |
3: 72,872,931 (GRCm39) |
P69L |
probably damaging |
Het |
Slc12a3 |
G |
T |
8: 95,057,074 (GRCm39) |
V116L |
probably benign |
Het |
Slc16a12 |
A |
T |
19: 34,652,227 (GRCm39) |
F306L |
probably damaging |
Het |
Slc39a12 |
T |
C |
2: 14,394,075 (GRCm39) |
|
probably benign |
Het |
Smg6 |
A |
G |
11: 74,821,439 (GRCm39) |
Q570R |
probably benign |
Het |
Sptb |
G |
A |
12: 76,669,888 (GRCm39) |
A480V |
probably benign |
Het |
Srsf4 |
C |
A |
4: 131,628,262 (GRCm39) |
|
probably benign |
Het |
Topors |
T |
C |
4: 40,261,952 (GRCm39) |
D444G |
probably damaging |
Het |
Trav19 |
A |
C |
14: 54,082,999 (GRCm39) |
T25P |
possibly damaging |
Het |
Trim3 |
A |
G |
7: 105,266,947 (GRCm39) |
|
probably null |
Het |
Ugt2a2 |
T |
C |
5: 87,622,755 (GRCm39) |
N281S |
probably damaging |
Het |
Vmn1r12 |
A |
G |
6: 57,136,694 (GRCm39) |
I264V |
probably benign |
Het |
Vmn2r94 |
T |
A |
17: 18,476,489 (GRCm39) |
I403F |
possibly damaging |
Het |
Zzef1 |
G |
A |
11: 72,746,308 (GRCm39) |
R870Q |
possibly damaging |
Het |
|
Other mutations in Cd84 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00509:Cd84
|
APN |
1 |
171,679,704 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01371:Cd84
|
APN |
1 |
171,713,937 (GRCm39) |
missense |
probably benign |
0.36 |
IGL03035:Cd84
|
APN |
1 |
171,679,601 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03098:Cd84
|
APN |
1 |
171,700,267 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0511:Cd84
|
UTSW |
1 |
171,700,494 (GRCm39) |
missense |
probably benign |
0.00 |
R1244:Cd84
|
UTSW |
1 |
171,679,397 (GRCm39) |
missense |
probably damaging |
0.99 |
R1438:Cd84
|
UTSW |
1 |
171,679,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R1459:Cd84
|
UTSW |
1 |
171,679,510 (GRCm39) |
missense |
probably benign |
0.02 |
R1654:Cd84
|
UTSW |
1 |
171,712,173 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1658:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1659:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1765:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1771:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1776:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1799:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1815:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1816:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1982:Cd84
|
UTSW |
1 |
171,712,152 (GRCm39) |
splice site |
probably null |
|
R1990:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2056:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2057:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2058:Cd84
|
UTSW |
1 |
171,700,317 (GRCm39) |
missense |
possibly damaging |
0.78 |
R2098:Cd84
|
UTSW |
1 |
171,713,148 (GRCm39) |
missense |
probably benign |
0.07 |
R4674:Cd84
|
UTSW |
1 |
171,700,887 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4675:Cd84
|
UTSW |
1 |
171,700,887 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4806:Cd84
|
UTSW |
1 |
171,679,688 (GRCm39) |
missense |
probably benign |
0.00 |
R4828:Cd84
|
UTSW |
1 |
171,700,315 (GRCm39) |
missense |
probably damaging |
0.97 |
R4908:Cd84
|
UTSW |
1 |
171,700,432 (GRCm39) |
missense |
probably damaging |
0.96 |
R5366:Cd84
|
UTSW |
1 |
171,700,872 (GRCm39) |
missense |
probably damaging |
1.00 |
R5883:Cd84
|
UTSW |
1 |
171,700,405 (GRCm39) |
missense |
possibly damaging |
0.58 |
R6722:Cd84
|
UTSW |
1 |
171,700,344 (GRCm39) |
missense |
probably damaging |
0.98 |
R6966:Cd84
|
UTSW |
1 |
171,713,976 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7513:Cd84
|
UTSW |
1 |
171,712,185 (GRCm39) |
missense |
probably benign |
0.01 |
R7733:Cd84
|
UTSW |
1 |
171,668,226 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R9123:Cd84
|
UTSW |
1 |
171,712,153 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9134:Cd84
|
UTSW |
1 |
171,679,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R9441:Cd84
|
UTSW |
1 |
171,713,994 (GRCm39) |
critical splice donor site |
probably null |
|
R9702:Cd84
|
UTSW |
1 |
171,700,498 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAAGGGTAAGCATTCCTTGG -3'
(R):5'- TGGCTTGCTACCACAGTTCC -3'
Sequencing Primer
(F):5'- GTGGAGCCCCTGTTTGACTC -3'
(R):5'- TTGCTACCACAGTTCCCAAAATG -3'
|
Posted On |
2017-01-03 |