Incidental Mutation 'R4521:Cadm3'
| ID |
334204 |
| 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 |
041764-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R4521 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173161825-173195214 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 173172630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005470]
[ENSMUST00000005470]
[ENSMUST00000111220]
|
| AlphaFold |
Q99N28 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000005470
|
| SMART Domains |
Protein: ENSMUSP00000005470
Gene: ENSMUSG00000005338
| 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 null
Transcript: ENSMUST00000005470
|
| SMART Domains |
Protein: ENSMUSP00000005470
Gene: ENSMUSG00000005338
| 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 null
Transcript: ENSMUST00000111220
|
| SMART Domains |
Protein: ENSMUSP00000106851
Gene: ENSMUSG00000005338
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (49/49) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
A |
G |
10: 50,536,766 (GRCm39) |
N700D |
probably benign |
Het |
| Bora |
G |
T |
14: 99,305,984 (GRCm39) |
S451I |
probably damaging |
Het |
| Car14 |
A |
G |
3: 95,811,690 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Cdc20b |
A |
G |
13: 113,217,725 (GRCm39) |
I381M |
probably damaging |
Het |
| Col12a1 |
C |
T |
9: 79,540,639 (GRCm39) |
V2449I |
probably benign |
Het |
| Crb2 |
T |
C |
2: 37,685,349 (GRCm39) |
|
probably benign |
Het |
| Dcaf6 |
A |
T |
1: 165,218,059 (GRCm39) |
D347E |
probably damaging |
Het |
| Dlgap2 |
G |
A |
8: 14,777,871 (GRCm39) |
R372H |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,834,238 (GRCm39) |
N4118S |
probably null |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Fpr2 |
A |
C |
17: 18,113,509 (GRCm39) |
R168S |
probably benign |
Het |
| Ghr |
A |
G |
15: 3,355,440 (GRCm39) |
I281T |
probably damaging |
Het |
| Glmp |
C |
A |
3: 88,235,346 (GRCm39) |
N259K |
possibly damaging |
Het |
| Grhl3 |
T |
C |
4: 135,273,561 (GRCm39) |
K564E |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,870,626 (GRCm39) |
H2875R |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,452,608 (GRCm39) |
D438G |
possibly damaging |
Het |
| Lrfn2 |
T |
A |
17: 49,376,922 (GRCm39) |
M1K |
probably null |
Het |
| Lrp6 |
A |
G |
6: 134,462,825 (GRCm39) |
C612R |
probably damaging |
Het |
| Map3k13 |
T |
C |
16: 21,724,525 (GRCm39) |
V341A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,042,126 (GRCm39) |
C1315S |
probably benign |
Het |
| Mrgpra9 |
A |
T |
7: 46,884,938 (GRCm39) |
L243H |
probably damaging |
Het |
| Mrgprx1 |
T |
C |
7: 47,671,447 (GRCm39) |
D100G |
probably benign |
Het |
| Nop2 |
G |
T |
6: 125,110,515 (GRCm39) |
R47L |
probably damaging |
Het |
| Nup93 |
T |
C |
8: 95,041,264 (GRCm39) |
Y801H |
probably damaging |
Het |
| Or51b6b |
C |
T |
7: 103,309,539 (GRCm39) |
R306H |
probably benign |
Het |
| Or6c69b |
T |
A |
10: 129,627,050 (GRCm39) |
N136I |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Plce1 |
T |
C |
19: 38,512,763 (GRCm39) |
S21P |
possibly damaging |
Het |
| Plpp2 |
A |
G |
10: 79,366,459 (GRCm39) |
Y118H |
probably damaging |
Het |
| Ppwd1 |
A |
G |
13: 104,346,167 (GRCm39) |
V496A |
probably benign |
Het |
| Rbm20 |
A |
G |
19: 53,805,633 (GRCm39) |
N466S |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Skida1 |
T |
C |
2: 18,050,683 (GRCm39) |
|
probably benign |
Het |
| Stk17b |
A |
G |
1: 53,803,197 (GRCm39) |
Y73H |
probably damaging |
Het |
| Tapbpl |
A |
G |
6: 125,205,085 (GRCm39) |
I287T |
probably damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Topbp1 |
T |
C |
9: 103,211,401 (GRCm39) |
|
probably benign |
Het |
| Tsen54 |
G |
A |
11: 115,707,932 (GRCm39) |
|
probably null |
Het |
| Ttn |
G |
A |
2: 76,555,560 (GRCm39) |
R28736* |
probably null |
Het |
| Wdr36 |
G |
A |
18: 32,974,201 (GRCm39) |
|
probably null |
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 |
|
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'- TGTAACTCCAGAGCAGGAACTAC -3'
(R):5'- ATCATCCTTCAGGTGTGGCC -3'
Sequencing Primer
(F):5'- AGGAACTACTCACCGTGGAGTTC -3'
(R):5'- CTTCTTAAGACTTGTCCTCAGGAAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation