Incidental Mutation 'IGL01915:Cadm3'
| ID |
179916 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cadm3
|
| Ensembl Gene |
ENSMUSG00000005338 |
| Gene Name |
cell adhesion molecule 3 |
| Synonyms |
Necl-1, Tsll1, BIgR, SynCAM3, Igsf4b, Necl1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
IGL01915
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
173161825-173195214 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 173168675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 298
(T298A)
|
| 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: T332A
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000005470
Gene: ENSMUSG00000005338
AA Change: T332A
| 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: T298A
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106851
Gene: ENSMUSG00000005338
AA Change: T298A
| 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
|
| Meta Mutation Damage Score |
0.0727 |
| Coding Region Coverage |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
T |
C |
13: 23,607,938 (GRCm39) |
E22G |
unknown |
Het |
| Aoc1l2 |
T |
A |
6: 48,908,582 (GRCm39) |
D527E |
probably damaging |
Het |
| Atp11b |
T |
G |
3: 35,885,612 (GRCm39) |
H668Q |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,938,715 (GRCm39) |
V2687D |
probably benign |
Het |
| Car12 |
G |
A |
9: 66,670,552 (GRCm39) |
A174T |
possibly damaging |
Het |
| Ccdc180 |
T |
C |
4: 45,904,544 (GRCm39) |
L380P |
probably damaging |
Het |
| Col7a1 |
A |
T |
9: 108,784,813 (GRCm39) |
R214W |
unknown |
Het |
| Cyp2d26 |
T |
G |
15: 82,674,450 (GRCm39) |
R477S |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,853,780 (GRCm39) |
V541A |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,076,392 (GRCm39) |
F797I |
probably damaging |
Het |
| Dot1l |
A |
T |
10: 80,616,728 (GRCm39) |
N63I |
probably damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Ints5 |
T |
C |
19: 8,874,357 (GRCm39) |
I772T |
probably benign |
Het |
| Nosip |
T |
A |
7: 44,726,283 (GRCm39) |
I230N |
probably damaging |
Het |
| Or2r3 |
A |
T |
6: 42,448,223 (GRCm39) |
D296E |
probably benign |
Het |
| Or4d11 |
A |
T |
19: 12,013,461 (GRCm39) |
L215Q |
probably damaging |
Het |
| Or5ac22 |
T |
A |
16: 59,135,473 (GRCm39) |
Q99L |
probably damaging |
Het |
| Or6c210 |
G |
A |
10: 129,496,519 (GRCm39) |
M281I |
probably benign |
Het |
| Orc5 |
A |
T |
5: 22,727,381 (GRCm39) |
|
probably benign |
Het |
| Parp1 |
A |
G |
1: 180,425,907 (GRCm39) |
I879M |
probably damaging |
Het |
| Pcdh18 |
A |
G |
3: 49,699,370 (GRCm39) |
S1031P |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,371,725 (GRCm39) |
S2557P |
probably damaging |
Het |
| Rccd1 |
T |
C |
7: 79,969,966 (GRCm39) |
|
probably benign |
Het |
| Rsad1 |
A |
G |
11: 94,439,803 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,373,864 (GRCm39) |
C1132* |
probably null |
Het |
| Sema6d |
A |
G |
2: 124,500,491 (GRCm39) |
|
probably benign |
Het |
| Slc10a5 |
T |
C |
3: 10,400,580 (GRCm39) |
N27D |
probably damaging |
Het |
| Slco1a5 |
C |
T |
6: 142,189,599 (GRCm39) |
M462I |
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,440,628 (GRCm39) |
T45A |
probably damaging |
Het |
| Usp21 |
T |
A |
1: 171,110,307 (GRCm39) |
Q489L |
possibly damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r20 |
A |
G |
6: 123,370,924 (GRCm39) |
S519P |
possibly damaging |
Het |
|
| Other mutations in Cadm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation