Incidental Mutation 'R3764:Cadm3'
| ID |
271796 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cadm3
|
| Ensembl Gene |
ENSMUSG00000005338 |
| Gene Name |
cell adhesion molecule 3 |
| Synonyms |
Necl-1, Tsll1, BIgR, SynCAM3, Igsf4b, Necl1 |
| MMRRC Submission |
040741-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R3764 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173161825-173195214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 173174064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 50
(V50I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005470]
[ENSMUST00000111220]
[ENSMUST00000147604]
|
| AlphaFold |
Q99N28 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005470
AA Change: V84I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005470
Gene: ENSMUSG00000005338
AA Change: V84I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IG
|
67 |
159 |
1.43e-8 |
SMART |
|
IG
|
169 |
262 |
6.31e-1 |
SMART |
|
IGc2
|
277 |
338 |
3.91e-6 |
SMART |
|
low complexity region
|
351 |
359 |
N/A |
INTRINSIC |
|
4.1m
|
383 |
401 |
9.24e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111220
AA Change: V50I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106851
Gene: ENSMUSG00000005338
AA Change: V50I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
14 |
N/A |
INTRINSIC |
|
IG
|
33 |
125 |
1.43e-8 |
SMART |
|
IG
|
135 |
228 |
6.31e-1 |
SMART |
|
IGc2
|
243 |
304 |
3.91e-6 |
SMART |
|
low complexity region
|
317 |
325 |
N/A |
INTRINSIC |
|
4.1m
|
349 |
367 |
9.24e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136540
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147604
|
| SMART Domains |
Protein: ENSMUSP00000119465
Gene: ENSMUSG00000037860
| Domain | Start | End | E-Value | Type |
|---|
|
PYRIN
|
6 |
83 |
2.11e-15 |
SMART |
|
Pfam:HIN
|
156 |
322 |
2e-61 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157032
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.3%
|
| Validation Efficiency |
100% (29/29) |
| 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 calcium-independent cell-cell adhesion protein that can form homodimers or heterodimers with other nectin proteins. The encoded protein has both homophilic and heterophilic cell-cell adhesion activity. This gene is reported to be a tumor suppressor gene. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit delayed myelination. Other mice with ubiquitous conditional deletion of the gene do not display neurological abnormalities. [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 |
|---|
| Afdn |
G |
A |
17: 14,066,851 (GRCm39) |
A648T |
probably benign |
Het |
| Catspere2 |
A |
T |
1: 177,940,698 (GRCm39) |
T687S |
unknown |
Het |
| Cubn |
T |
A |
2: 13,336,396 (GRCm39) |
I2477F |
possibly damaging |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Eif4e3 |
C |
T |
6: 99,617,586 (GRCm39) |
R95Q |
probably damaging |
Het |
| Fmo5 |
T |
C |
3: 97,553,033 (GRCm39) |
I327T |
probably damaging |
Het |
| Gckr |
T |
A |
5: 31,483,842 (GRCm39) |
|
probably benign |
Het |
| Ghrhr |
T |
C |
6: 55,357,756 (GRCm39) |
V129A |
probably damaging |
Het |
| Gsdma |
A |
T |
11: 98,561,593 (GRCm39) |
N191I |
probably damaging |
Het |
| Hadha |
T |
C |
5: 30,349,207 (GRCm39) |
K135E |
probably damaging |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,326,680 (GRCm39) |
E1797G |
probably damaging |
Het |
| Ly9 |
T |
C |
1: 171,421,712 (GRCm39) |
Y513C |
possibly damaging |
Het |
| Nphp4 |
C |
T |
4: 152,622,474 (GRCm39) |
|
probably benign |
Het |
| Pate8 |
A |
T |
9: 36,493,114 (GRCm39) |
|
probably null |
Het |
| Pcm1 |
A |
G |
8: 41,783,919 (GRCm39) |
E2005G |
probably damaging |
Het |
| Spsb2 |
T |
C |
6: 124,786,518 (GRCm39) |
Y84H |
probably damaging |
Het |
| Tlcd3b |
T |
C |
7: 126,426,685 (GRCm39) |
I36T |
probably damaging |
Het |
| Try10 |
C |
T |
6: 41,333,458 (GRCm39) |
R68C |
probably benign |
Het |
| Tut7 |
T |
A |
13: 59,948,194 (GRCm39) |
E307V |
probably damaging |
Het |
| Ube3c |
ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
ACTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
5: 29,842,584 (GRCm39) |
|
probably benign |
Het |
| Vps50 |
A |
T |
6: 3,588,063 (GRCm39) |
I679F |
probably damaging |
Het |
| Wdr81 |
G |
A |
11: 75,343,629 (GRCm39) |
T546I |
probably damaging |
Het |
| Zfp40 |
T |
A |
17: 23,396,101 (GRCm39) |
H94L |
possibly damaging |
Het |
|
| Other mutations in Cadm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01915:Cadm3
|
APN |
1 |
173,168,675 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01989:Cadm3
|
APN |
1 |
173,165,578 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02224:Cadm3
|
APN |
1 |
173,165,628 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL03105:Cadm3
|
APN |
1 |
173,172,583 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0243:Cadm3
|
UTSW |
1 |
173,174,140 (GRCm39) |
unclassified |
probably benign |
|
|
R0583:Cadm3
|
UTSW |
1 |
173,168,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0689:Cadm3
|
UTSW |
1 |
173,172,019 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2060:Cadm3
|
UTSW |
1 |
173,171,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2859:Cadm3
|
UTSW |
1 |
173,174,112 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4077:Cadm3
|
UTSW |
1 |
173,169,236 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4079:Cadm3
|
UTSW |
1 |
173,169,236 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4521:Cadm3
|
UTSW |
1 |
173,172,630 (GRCm39) |
splice site |
probably null |
|
|
R4670:Cadm3
|
UTSW |
1 |
173,174,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Cadm3
|
UTSW |
1 |
173,164,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Cadm3
|
UTSW |
1 |
173,164,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6273:Cadm3
|
UTSW |
1 |
173,176,691 (GRCm39) |
unclassified |
probably benign |
|
|
R6315:Cadm3
|
UTSW |
1 |
173,171,919 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6342:Cadm3
|
UTSW |
1 |
173,168,675 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6544:Cadm3
|
UTSW |
1 |
173,194,977 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6565:Cadm3
|
UTSW |
1 |
173,169,276 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7813:Cadm3
|
UTSW |
1 |
173,171,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8024:Cadm3
|
UTSW |
1 |
173,165,622 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8078:Cadm3
|
UTSW |
1 |
173,168,626 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8699:Cadm3
|
UTSW |
1 |
173,168,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Cadm3
|
UTSW |
1 |
173,168,786 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGTAAACAACTAAGCAGTCCAC -3'
(R):5'- AAACCAGAGCCTTGGATAGCC -3'
Sequencing Primer
(F):5'- TAAGCAGTCCACAGCTTACTG -3'
(R):5'- CAGAGCCTTGGATAGCCTGACTTAG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation