Incidental Mutation 'R6565:Cadm3'
| ID |
522593 |
| 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 |
044689-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R6565 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
173161825-173195214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 173169276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 246
(Q246K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005470]
[ENSMUST00000111220]
|
| AlphaFold |
Q99N28 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005470
AA Change: Q280K
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000005470
Gene: ENSMUSG00000005338
AA Change: Q280K
| 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 |
possibly damaging
Transcript: ENSMUST00000111220
AA Change: Q246K
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106851
Gene: ENSMUSG00000005338
AA Change: Q246K
| 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 |
noncoding transcript
Transcript: ENSMUST00000157032
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
|
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
C |
A |
15: 60,792,659 (GRCm39) |
C96F |
probably damaging |
Het |
| Abca7 |
C |
T |
10: 79,847,622 (GRCm39) |
P1764L |
probably damaging |
Het |
| Acvr1 |
G |
A |
2: 58,369,769 (GRCm39) |
T80M |
probably damaging |
Het |
| Adgrb2 |
T |
C |
4: 129,913,069 (GRCm39) |
L1398P |
probably damaging |
Het |
| B4galnt3 |
G |
A |
6: 120,194,440 (GRCm39) |
Q362* |
probably null |
Het |
| Cdc14b |
T |
C |
13: 64,373,444 (GRCm39) |
T110A |
probably benign |
Het |
| Cyp2c55 |
A |
C |
19: 39,030,566 (GRCm39) |
D466A |
probably benign |
Het |
| Dmrtb1 |
T |
C |
4: 107,536,542 (GRCm39) |
Y308C |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,826,623 (GRCm39) |
D4443G |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Grin2d |
A |
G |
7: 45,484,179 (GRCm39) |
L772P |
probably damaging |
Het |
| Gsdme |
T |
C |
6: 50,206,429 (GRCm39) |
N138S |
probably damaging |
Het |
| Hmgb4 |
T |
A |
4: 128,154,388 (GRCm39) |
Y60F |
probably benign |
Het |
| Ift172 |
G |
A |
5: 31,433,227 (GRCm39) |
A554V |
possibly damaging |
Het |
| Iigp1 |
T |
A |
18: 60,523,839 (GRCm39) |
V319E |
probably damaging |
Het |
| Kit |
A |
G |
5: 75,806,513 (GRCm39) |
T673A |
probably damaging |
Het |
| Lilra6 |
A |
T |
7: 3,918,019 (GRCm39) |
W42R |
probably benign |
Het |
| Mia3 |
A |
T |
1: 183,112,340 (GRCm39) |
H477Q |
probably damaging |
Het |
| Oas1b |
C |
A |
5: 120,952,611 (GRCm39) |
Q101K |
possibly damaging |
Het |
| Or2v1 |
A |
G |
11: 49,025,639 (GRCm39) |
M207V |
probably damaging |
Het |
| Or51a5 |
T |
C |
7: 102,771,445 (GRCm39) |
H178R |
probably damaging |
Het |
| Plcl1 |
T |
A |
1: 55,737,117 (GRCm39) |
C819* |
probably null |
Het |
| Pmfbp1 |
C |
T |
8: 110,252,060 (GRCm39) |
Q402* |
probably null |
Het |
| Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
| Skor2 |
C |
G |
18: 76,947,607 (GRCm39) |
A443G |
possibly damaging |
Het |
| Tapbpl |
A |
G |
6: 125,205,307 (GRCm39) |
V213A |
probably benign |
Het |
| Trim52 |
G |
A |
14: 106,344,653 (GRCm39) |
D104N |
probably 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 |
|
R3764:Cadm3
|
UTSW |
1 |
173,174,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- AGGGAGTGTTCCAACCTCAC -3'
(R):5'- CAAGCTTCTGAGACTTTGGGG -3'
Sequencing Primer
(F):5'- GGAGTGTTCCAACCTCACTTCTG -3'
(R):5'- GATGGGAGATGGAGCCTATAGC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation