Incidental Mutation 'R0050:Cadm2'
| ID |
64265 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cadm2
|
| Ensembl Gene |
ENSMUSG00000064115 |
| Gene Name |
cell adhesion molecule 2 |
| Synonyms |
SynCAM2, Necl3, A830029E02Rik, Igsf4d, 2900078E11Rik |
| MMRRC Submission |
038344-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
R0050 (G1)
|
| Quality Score |
129 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
66452307-67417796 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 66750154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114292]
[ENSMUST00000120594]
[ENSMUST00000120898]
[ENSMUST00000123266]
[ENSMUST00000128168]
|
| AlphaFold |
Q8BLQ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114292
|
| SMART Domains |
Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG
|
38 |
130 |
2.19e-9 |
SMART |
|
Pfam:Ig_3
|
135 |
216 |
1.2e-6 |
PFAM |
|
Pfam:C2-set_2
|
135 |
222 |
6.4e-17 |
PFAM |
|
Pfam:Ig_2
|
135 |
228 |
1.8e-6 |
PFAM |
|
Pfam:I-set
|
136 |
229 |
1.3e-7 |
PFAM |
|
Pfam:C1-set
|
142 |
225 |
1.5e-9 |
PFAM |
|
IGc2
|
248 |
312 |
2.56e-10 |
SMART |
|
4.1m
|
357 |
375 |
5.39e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120594
|
| SMART Domains |
Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
29 |
121 |
2.19e-9 |
SMART |
|
Pfam:Ig_3
|
126 |
207 |
4.2e-7 |
PFAM |
|
Pfam:C2-set_2
|
126 |
213 |
1.8e-16 |
PFAM |
|
Pfam:I-set
|
127 |
220 |
1.5e-7 |
PFAM |
|
Pfam:C1-set
|
133 |
216 |
7e-10 |
PFAM |
|
Pfam:ig
|
133 |
218 |
9.5e-9 |
PFAM |
|
IGc2
|
239 |
303 |
2.56e-10 |
SMART |
|
low complexity region
|
319 |
352 |
N/A |
INTRINSIC |
|
4.1m
|
388 |
406 |
5.39e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120898
|
| SMART Domains |
Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
29 |
121 |
2.19e-9 |
SMART |
|
Pfam:Ig_3
|
126 |
207 |
1.2e-6 |
PFAM |
|
Pfam:C2-set_2
|
126 |
213 |
6.2e-17 |
PFAM |
|
Pfam:Ig_2
|
126 |
219 |
1.7e-6 |
PFAM |
|
Pfam:I-set
|
127 |
220 |
1.3e-7 |
PFAM |
|
Pfam:C1-set
|
133 |
216 |
1.5e-9 |
PFAM |
|
IGc2
|
239 |
303 |
2.56e-10 |
SMART |
|
4.1m
|
348 |
366 |
5.39e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123266
|
| SMART Domains |
Protein: ENSMUSP00000123192
Gene: ENSMUSG00000064115
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG_like
|
19 |
53 |
1e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128168
|
| SMART Domains |
Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
| Domain | Start | End | E-Value | Type |
|---|
|
IG
|
29 |
121 |
2.19e-9 |
SMART |
|
Pfam:Ig_3
|
126 |
207 |
1.4e-6 |
PFAM |
|
Pfam:C2-set_2
|
126 |
213 |
7.2e-16 |
PFAM |
|
Pfam:I-set
|
127 |
220 |
5e-7 |
PFAM |
|
Pfam:C1-set
|
133 |
216 |
2.2e-9 |
PFAM |
|
Pfam:ig
|
133 |
218 |
3.6e-8 |
PFAM |
|
IGc2
|
239 |
303 |
2.56e-10 |
SMART |
|
low complexity region
|
319 |
352 |
N/A |
INTRINSIC |
|
4.1m
|
388 |
406 |
5.39e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the synaptic cell adhesion molecule 1 (SynCAM) family which belongs to the immunoglobulin (Ig) superfamily. The encoded protein has three Ig-like domains and a cytosolic protein 4.1 binding site near the C-terminus. Proteins belonging to the protein 4.1 family crosslink spectrin and interact with other cytoskeletal proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
PHENOTYPE: Mice with ubiquitous conditional deletion of the gene do not display any neurological abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
C |
T |
11: 110,036,417 (GRCm39) |
C564Y |
probably damaging |
Het |
| Adamts2 |
T |
C |
11: 50,666,222 (GRCm39) |
V406A |
probably damaging |
Het |
| Ankar |
T |
A |
1: 72,695,323 (GRCm39) |
E1093D |
probably damaging |
Het |
| Arhgef38 |
C |
A |
3: 132,837,957 (GRCm39) |
D75Y |
probably damaging |
Het |
| Atg4b |
T |
A |
1: 93,715,440 (GRCm39) |
|
probably benign |
Het |
| Ces2c |
T |
A |
8: 105,574,831 (GRCm39) |
M96K |
probably benign |
Het |
| Dmrt3 |
C |
A |
19: 25,599,953 (GRCm39) |
P266H |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,844,637 (GRCm39) |
V1124A |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,805,809 (GRCm39) |
F37L |
possibly damaging |
Het |
| Ermp1 |
C |
A |
19: 29,606,184 (GRCm39) |
A190S |
probably damaging |
Het |
| Gm10267 |
T |
A |
18: 44,289,520 (GRCm39) |
|
probably benign |
Het |
| Golga2 |
T |
A |
2: 32,182,139 (GRCm39) |
V29D |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,491,485 (GRCm39) |
M755L |
probably damaging |
Het |
| H1f8 |
G |
T |
6: 115,924,729 (GRCm39) |
K78N |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,537,160 (GRCm39) |
H268Q |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,904,792 (GRCm39) |
V1614A |
probably damaging |
Het |
| Oaz2 |
A |
G |
9: 65,595,084 (GRCm39) |
E61G |
probably damaging |
Het |
| Pear1 |
G |
T |
3: 87,663,294 (GRCm39) |
Y441* |
probably null |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,203 (GRCm39) |
T3493S |
possibly damaging |
Het |
| Plekhg5 |
T |
C |
4: 152,192,545 (GRCm39) |
|
probably null |
Het |
| Ppp3cb |
A |
G |
14: 20,581,820 (GRCm39) |
V65A |
possibly damaging |
Het |
| Rheb |
A |
T |
5: 25,022,832 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
G |
A |
10: 51,977,899 (GRCm39) |
T1449M |
probably damaging |
Het |
| Septin4 |
T |
C |
11: 87,458,172 (GRCm39) |
L182S |
probably damaging |
Het |
| Slc6a12 |
T |
C |
6: 121,337,378 (GRCm39) |
|
probably benign |
Het |
| Stx2 |
A |
G |
5: 129,076,572 (GRCm39) |
|
probably null |
Het |
| Tnxb |
T |
A |
17: 34,892,299 (GRCm39) |
D764E |
probably damaging |
Het |
| Trmt2a |
A |
T |
16: 18,068,707 (GRCm39) |
E234D |
probably damaging |
Het |
|
| Other mutations in Cadm2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Cadm2
|
APN |
16 |
66,679,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01137:Cadm2
|
APN |
16 |
66,612,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01340:Cadm2
|
APN |
16 |
66,581,672 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL01406:Cadm2
|
APN |
16 |
66,612,192 (GRCm39) |
splice site |
probably null |
|
|
IGL02029:Cadm2
|
APN |
16 |
66,544,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02541:Cadm2
|
APN |
16 |
66,679,771 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02541:Cadm2
|
APN |
16 |
66,679,770 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02952:Cadm2
|
APN |
16 |
66,461,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
vitro
|
UTSW |
16 |
66,679,720 (GRCm39) |
nonsense |
probably null |
|
|
R0050:Cadm2
|
UTSW |
16 |
66,750,154 (GRCm39) |
splice site |
probably benign |
|
|
R0399:Cadm2
|
UTSW |
16 |
66,544,225 (GRCm39) |
nonsense |
probably null |
|
|
R0883:Cadm2
|
UTSW |
16 |
66,679,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1035:Cadm2
|
UTSW |
16 |
66,612,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Cadm2
|
UTSW |
16 |
66,581,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1889:Cadm2
|
UTSW |
16 |
66,679,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Cadm2
|
UTSW |
16 |
66,612,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Cadm2
|
UTSW |
16 |
66,544,270 (GRCm39) |
splice site |
probably benign |
|
|
R2108:Cadm2
|
UTSW |
16 |
66,528,357 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2570:Cadm2
|
UTSW |
16 |
66,612,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3878:Cadm2
|
UTSW |
16 |
66,612,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4093:Cadm2
|
UTSW |
16 |
66,581,675 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4094:Cadm2
|
UTSW |
16 |
66,679,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5421:Cadm2
|
UTSW |
16 |
66,568,513 (GRCm39) |
nonsense |
probably null |
|
|
R5555:Cadm2
|
UTSW |
16 |
66,581,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6173:Cadm2
|
UTSW |
16 |
66,679,729 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6188:Cadm2
|
UTSW |
16 |
66,612,195 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6224:Cadm2
|
UTSW |
16 |
66,461,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6492:Cadm2
|
UTSW |
16 |
66,581,715 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6957:Cadm2
|
UTSW |
16 |
66,609,726 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7051:Cadm2
|
UTSW |
16 |
66,679,767 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7183:Cadm2
|
UTSW |
16 |
66,679,720 (GRCm39) |
nonsense |
probably null |
|
|
R7322:Cadm2
|
UTSW |
16 |
66,679,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Cadm2
|
UTSW |
16 |
66,568,523 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7882:Cadm2
|
UTSW |
16 |
66,528,357 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8101:Cadm2
|
UTSW |
16 |
66,609,730 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8166:Cadm2
|
UTSW |
16 |
66,750,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8325:Cadm2
|
UTSW |
16 |
66,612,338 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8496:Cadm2
|
UTSW |
16 |
66,461,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8746:Cadm2
|
UTSW |
16 |
66,581,696 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9396:Cadm2
|
UTSW |
16 |
66,544,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9732:Cadm2
|
UTSW |
16 |
66,528,297 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0026:Cadm2
|
UTSW |
16 |
66,460,038 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGTGCATTCACACTTGGAATTGG -3'
(R):5'- CCCGTTTTCTCCTCAAGAATCATATGCT -3'
Sequencing Primer
(F):5'- GTAACCGAACTAAGGCACTTTAATC -3'
(R):5'- TCCTCAAGAATCATATGCTAACAAC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation