Incidental Mutation 'R6544:Cadm3'
| ID |
520982 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cadm3
|
| Ensembl Gene |
ENSMUSG00000005338 |
| Gene Name |
cell adhesion molecule 3 |
| Synonyms |
SynCAM3, Tsll1, Igsf4b, BIgR, Necl-1, Necl1 |
| MMRRC Submission |
044670-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R6544 (G1)
|
| Quality Score |
175.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
173333258-173367695 bp(-) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 173367411 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106851
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005470]
[ENSMUST00000005470]
[ENSMUST00000111220]
[ENSMUST00000111220]
[ENSMUST00000147604]
|
| 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 |
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 |
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 |
0.9495 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005K14Rik |
T |
A |
1: 83,058,957 (GRCm38) |
K118* |
probably null |
Het |
| Actr2 |
A |
G |
11: 20,100,933 (GRCm38) |
F17L |
probably damaging |
Het |
| Adam26b |
T |
C |
8: 43,521,781 (GRCm38) |
I61M |
probably damaging |
Het |
| Ahcyl |
A |
C |
16: 46,154,784 (GRCm38) |
S77A |
probably benign |
Het |
| Ahnak2 |
A |
G |
12: 112,780,652 (GRCm38) |
|
probably benign |
Het |
| Angptl3 |
T |
C |
4: 99,031,438 (GRCm38) |
L145P |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,933,222 (GRCm38) |
T808A |
probably damaging |
Het |
| Ark2c |
T |
A |
18: 77,563,235 (GRCm38) |
|
probably benign |
Het |
| Cog7 |
C |
T |
7: 121,935,743 (GRCm38) |
R573Q |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,758,178 (GRCm38) |
I2110F |
probably damaging |
Het |
| Fbxo47 |
G |
A |
11: 97,856,263 (GRCm38) |
R326C |
probably damaging |
Het |
| Frmpd1 |
A |
T |
4: 45,279,024 (GRCm38) |
D583V |
probably damaging |
Het |
| Gigyf1 |
T |
A |
5: 137,525,059 (GRCm38) |
L911Q |
probably damaging |
Het |
| Gprin1 |
G |
A |
13: 54,740,311 (GRCm38) |
A50V |
possibly damaging |
Het |
| Grik4 |
A |
T |
9: 42,547,728 (GRCm38) |
Y571* |
probably null |
Het |
| Gucy2e |
A |
G |
11: 69,235,657 (GRCm38) |
V299A |
probably benign |
Het |
| Hectd2 |
C |
T |
19: 36,612,328 (GRCm38) |
L618F |
probably damaging |
Het |
| Lactbl1 |
A |
T |
4: 136,632,989 (GRCm38) |
I160F |
possibly damaging |
Het |
| Lats1 |
T |
A |
10: 7,701,670 (GRCm38) |
V186D |
possibly damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,173,806 (GRCm38) |
H448R |
possibly damaging |
Het |
| Map10 |
T |
C |
8: 125,671,374 (GRCm38) |
I502T |
probably benign |
Het |
| Mok |
A |
G |
12: 110,810,755 (GRCm38) |
F239S |
probably damaging |
Het |
| Mprip |
G |
A |
11: 59,757,726 (GRCm38) |
G752D |
probably benign |
Het |
| Naip5 |
C |
A |
13: 100,223,144 (GRCm38) |
G528V |
possibly damaging |
Het |
| Neu2 |
T |
C |
1: 87,596,742 (GRCm38) |
W150R |
probably damaging |
Het |
| Or1ak2 |
T |
A |
2: 36,937,527 (GRCm38) |
M136K |
possibly damaging |
Het |
| Or5an1 |
T |
C |
19: 12,283,155 (GRCm38) |
Y36H |
probably damaging |
Het |
| Or5as1 |
T |
A |
2: 87,149,863 (GRCm38) |
Y266F |
probably damaging |
Het |
| Or5l13 |
T |
A |
2: 87,949,991 (GRCm38) |
M81L |
probably benign |
Het |
| Pip5k1c |
T |
A |
10: 81,308,996 (GRCm38) |
Y224N |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,850,978 (GRCm38) |
E5G |
probably damaging |
Het |
| Pspc1 |
T |
C |
14: 56,764,203 (GRCm38) |
*59W |
probably null |
Het |
| Ptprq |
T |
C |
10: 107,608,241 (GRCm38) |
T1501A |
probably damaging |
Het |
| Rorb |
G |
T |
19: 18,952,250 (GRCm38) |
P304T |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,684,100 (GRCm38) |
L1110Q |
probably damaging |
Het |
| Serpine2 |
C |
T |
1: 79,803,130 (GRCm38) |
|
probably null |
Het |
| Slco1c1 |
A |
G |
6: 141,531,444 (GRCm38) |
|
probably null |
Het |
| Smarca2 |
T |
A |
19: 26,630,931 (GRCm38) |
V130D |
probably damaging |
Het |
| Sox17 |
G |
T |
1: 4,492,432 (GRCm38) |
P117T |
possibly damaging |
Het |
| Sparcl1 |
A |
T |
5: 104,092,444 (GRCm38) |
Y371* |
probably null |
Het |
| Tdpoz2 |
T |
C |
3: 93,651,960 (GRCm38) |
D235G |
possibly damaging |
Het |
| Tns2 |
A |
C |
15: 102,113,834 (GRCm38) |
K1182N |
possibly damaging |
Het |
| Tpte |
G |
T |
8: 22,315,105 (GRCm38) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,969,159 (GRCm38) |
I459K |
possibly damaging |
Het |
| Wdr97 |
T |
C |
15: 76,358,278 (GRCm38) |
Y823H |
probably benign |
Het |
| Zc3h15 |
G |
A |
2: 83,661,148 (GRCm38) |
R240H |
probably benign |
Het |
| Zfp455 |
C |
A |
13: 67,207,057 (GRCm38) |
L130I |
probably benign |
Het |
| Zfp777 |
A |
T |
6: 48,044,485 (GRCm38) |
S68T |
probably damaging |
Het |
|
| Other mutations in Cadm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01915:Cadm3
|
APN |
1 |
173,341,108 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL01989:Cadm3
|
APN |
1 |
173,338,011 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02224:Cadm3
|
APN |
1 |
173,338,061 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
IGL03105:Cadm3
|
APN |
1 |
173,345,016 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0243:Cadm3
|
UTSW |
1 |
173,346,573 (GRCm38) |
unclassified |
probably benign |
|
|
R0583:Cadm3
|
UTSW |
1 |
173,341,171 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0689:Cadm3
|
UTSW |
1 |
173,344,452 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2060:Cadm3
|
UTSW |
1 |
173,344,402 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2859:Cadm3
|
UTSW |
1 |
173,346,545 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R3764:Cadm3
|
UTSW |
1 |
173,346,497 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4077:Cadm3
|
UTSW |
1 |
173,341,669 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4079:Cadm3
|
UTSW |
1 |
173,341,669 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4521:Cadm3
|
UTSW |
1 |
173,345,063 (GRCm38) |
splice site |
probably null |
|
|
R4670:Cadm3
|
UTSW |
1 |
173,346,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4965:Cadm3
|
UTSW |
1 |
173,337,097 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5267:Cadm3
|
UTSW |
1 |
173,337,102 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6273:Cadm3
|
UTSW |
1 |
173,349,124 (GRCm38) |
unclassified |
probably benign |
|
|
R6315:Cadm3
|
UTSW |
1 |
173,344,352 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6342:Cadm3
|
UTSW |
1 |
173,341,108 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R6565:Cadm3
|
UTSW |
1 |
173,341,709 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7813:Cadm3
|
UTSW |
1 |
173,344,389 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8024:Cadm3
|
UTSW |
1 |
173,338,055 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8078:Cadm3
|
UTSW |
1 |
173,341,059 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8699:Cadm3
|
UTSW |
1 |
173,341,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9336:Cadm3
|
UTSW |
1 |
173,341,219 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACATAGGAGGTGCACACGC -3'
(R):5'- TATTTAATCCCGGCGACTGCAG -3'
Sequencing Primer
(F):5'- ACACCCCACGGTCCTCAG -3'
(R):5'- TTGCCCCTTTGGACAGCG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation