Incidental Mutation 'R6722:Cd84'
| ID |
529614 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cd84
|
| Ensembl Gene |
ENSMUSG00000038147 |
| Gene Name |
CD84 antigen |
| Synonyms |
SLAMF5, CDw84, A130013D22Rik |
| MMRRC Submission |
044840-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6722 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
171667265-171718285 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 171700344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 154
(V154M)
|
| 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 damaging
Transcript: ENSMUST00000042302
AA Change: V154M
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047024
Gene: ENSMUSG00000038147
AA Change: V154M
| 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 damaging
Transcript: ENSMUST00000136479
AA Change: V154M
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122951
Gene: ENSMUSG00000038147
AA Change: V154M
| 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 damaging
Transcript: ENSMUST00000155802
AA Change: V154M
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120881
Gene: ENSMUSG00000038147
AA Change: V154M
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
96% (52/54) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
T |
G |
12: 81,468,228 (GRCm39) |
D131A |
probably damaging |
Het |
| Ank3 |
T |
C |
10: 69,826,074 (GRCm39) |
|
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,085,617 (GRCm39) |
|
probably benign |
Het |
| Bmal2 |
T |
A |
6: 146,720,398 (GRCm39) |
D187E |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,164,458 (GRCm39) |
S140P |
probably benign |
Het |
| Ccdc162 |
T |
C |
10: 41,520,637 (GRCm39) |
N673S |
probably benign |
Het |
| Celsr1 |
C |
A |
15: 85,790,115 (GRCm39) |
|
probably null |
Het |
| Cfap57 |
A |
C |
4: 118,441,914 (GRCm39) |
L718R |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 100,406,211 (GRCm39) |
V803M |
probably damaging |
Het |
| Col6a2 |
C |
T |
10: 76,450,392 (GRCm39) |
V180I |
probably damaging |
Het |
| Coq4 |
A |
T |
2: 29,678,297 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,983 (GRCm39) |
T389A |
probably benign |
Het |
| Dennd1c |
T |
C |
17: 57,373,802 (GRCm39) |
D587G |
probably benign |
Het |
| Dnaja4 |
A |
G |
9: 54,607,038 (GRCm39) |
D9G |
probably damaging |
Het |
| Hes2 |
T |
G |
4: 152,244,834 (GRCm39) |
L101R |
probably damaging |
Het |
| Icam2 |
A |
G |
11: 106,273,307 (GRCm39) |
S2P |
probably damaging |
Het |
| Krt31 |
A |
G |
11: 99,939,254 (GRCm39) |
L221P |
probably damaging |
Het |
| Lipm |
A |
T |
19: 34,098,665 (GRCm39) |
N380Y |
probably benign |
Het |
| Lrp2bp |
G |
A |
8: 46,473,600 (GRCm39) |
|
probably null |
Het |
| Mbd2 |
T |
A |
18: 70,713,819 (GRCm39) |
M216K |
probably damaging |
Het |
| Mrps33 |
T |
C |
6: 39,782,599 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,462,060 (GRCm39) |
D1459G |
probably damaging |
Het |
| Ncapd3 |
T |
C |
9: 26,998,852 (GRCm39) |
S1281P |
probably benign |
Het |
| Nt5c1b |
T |
A |
12: 10,422,874 (GRCm39) |
Y56N |
possibly damaging |
Het |
| Nthl1 |
A |
G |
17: 24,853,008 (GRCm39) |
K71E |
probably benign |
Het |
| Or4f62 |
T |
A |
2: 111,987,227 (GRCm39) |
N310K |
probably benign |
Het |
| Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
| Pde4a |
G |
A |
9: 21,122,521 (GRCm39) |
A806T |
probably damaging |
Het |
| Pde4d |
C |
A |
13: 109,769,432 (GRCm39) |
S40* |
probably null |
Het |
| Pde4dip |
G |
A |
3: 97,625,555 (GRCm39) |
R1348* |
probably null |
Het |
| Pdx1 |
C |
T |
5: 147,207,310 (GRCm39) |
P88S |
probably damaging |
Het |
| Pnisr |
T |
A |
4: 21,859,165 (GRCm39) |
V120D |
probably damaging |
Het |
| Prss51 |
G |
T |
14: 64,332,508 (GRCm39) |
C65F |
probably damaging |
Het |
| Pus10 |
G |
A |
11: 23,652,975 (GRCm39) |
E195K |
possibly damaging |
Het |
| Pzp |
T |
A |
6: 128,464,917 (GRCm39) |
Q1319L |
probably damaging |
Het |
| Rbpms |
G |
T |
8: 34,324,421 (GRCm39) |
T101K |
probably damaging |
Het |
| Rundc3a |
A |
G |
11: 102,290,775 (GRCm39) |
N281S |
possibly damaging |
Het |
| Scml4 |
C |
T |
10: 42,736,728 (GRCm39) |
|
probably benign |
Het |
| Sez6 |
T |
C |
11: 77,844,528 (GRCm39) |
V117A |
probably damaging |
Het |
| Sgsm2 |
A |
C |
11: 74,756,250 (GRCm39) |
C366W |
probably damaging |
Het |
| Slc12a4 |
T |
C |
8: 106,670,882 (GRCm39) |
|
probably null |
Het |
| Smg5 |
C |
T |
3: 88,260,332 (GRCm39) |
R641C |
probably damaging |
Het |
| Stxbp3 |
A |
G |
3: 108,723,762 (GRCm39) |
Y150H |
probably benign |
Het |
| Thoc2l |
T |
A |
5: 104,668,145 (GRCm39) |
M889K |
probably damaging |
Het |
| Tkt |
T |
C |
14: 30,291,041 (GRCm39) |
F351S |
probably damaging |
Het |
| Tln1 |
A |
G |
4: 43,547,618 (GRCm39) |
L781P |
probably damaging |
Het |
| Triobp |
G |
A |
15: 78,885,765 (GRCm39) |
E1823K |
probably damaging |
Het |
| Ttll4 |
T |
C |
1: 74,720,948 (GRCm39) |
V538A |
possibly damaging |
Het |
| Uba52rt |
A |
G |
4: 3,973,386 (GRCm39) |
Y59H |
probably benign |
Het |
| Vmn1r61 |
T |
A |
7: 5,613,687 (GRCm39) |
N209I |
possibly damaging |
Het |
| Wdr75 |
T |
A |
1: 45,844,512 (GRCm39) |
|
probably null |
Het |
| Zfp985 |
T |
C |
4: 147,667,528 (GRCm39) |
V132A |
probably benign |
Het |
| Zswim3 |
T |
A |
2: 164,662,544 (GRCm39) |
|
probably null |
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 |
|
R5725:Cd84
|
UTSW |
1 |
171,700,928 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5883:Cd84
|
UTSW |
1 |
171,700,405 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
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'- GTATGCAATCACTCACCATTACATG -3'
(R):5'- TTACCTGTACATGGCTGCTG -3'
Sequencing Primer
(F):5'- TGTGTATCACTACCAGCACCATGTAG -3'
(R):5'- CTGCTGGACAGTGACAGAGTC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation