Incidental Mutation 'R6173:Cadm2'
| ID |
489157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cadm2
|
| Ensembl Gene |
ENSMUSG00000064115 |
| Gene Name |
cell adhesion molecule 2 |
| Synonyms |
SynCAM2, Necl3, A830029E02Rik, Igsf4d, 2900078E11Rik |
| MMRRC Submission |
044316-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.463)
|
| Stock # |
R6173 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
66452307-67417796 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66679729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 35
(V35I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114292]
[ENSMUST00000120594]
[ENSMUST00000120898]
[ENSMUST00000123266]
[ENSMUST00000128168]
|
| AlphaFold |
Q8BLQ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114292
AA Change: V44I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: V44I
| 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
AA Change: V35I
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: V35I
| 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
AA Change: V35I
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: V35I
| 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
AA Change: V35I
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: V35I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141282
|
| Meta Mutation Damage Score |
0.0712 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
96% (52/54) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank2 |
T |
C |
3: 126,846,395 (GRCm39) |
D219G |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,906,965 (GRCm39) |
I18N |
probably damaging |
Het |
| Baz1b |
T |
C |
5: 135,271,361 (GRCm39) |
S1315P |
probably benign |
Het |
| Bbs7 |
A |
T |
3: 36,646,523 (GRCm39) |
C432* |
probably null |
Het |
| Bend3 |
A |
G |
10: 43,385,864 (GRCm39) |
T86A |
probably benign |
Het |
| Ch25h |
A |
G |
19: 34,451,896 (GRCm39) |
S211P |
probably damaging |
Het |
| Chd5 |
A |
T |
4: 152,463,848 (GRCm39) |
H1476L |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,036,338 (GRCm39) |
|
probably null |
Het |
| Clpx |
C |
A |
9: 65,209,161 (GRCm39) |
S92* |
probably null |
Het |
| Dazl |
A |
T |
17: 50,594,599 (GRCm39) |
M152K |
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,930,772 (GRCm39) |
S3748P |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,212,388 (GRCm39) |
K1251R |
probably null |
Het |
| Esr1 |
T |
C |
10: 4,696,760 (GRCm39) |
V203A |
probably damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,305,588 (GRCm39) |
I262T |
probably damaging |
Het |
| Foxp1 |
G |
A |
6: 98,992,471 (GRCm39) |
Q41* |
probably null |
Het |
| Foxp1 |
C |
A |
6: 98,992,475 (GRCm39) |
|
probably null |
Het |
| Fshb |
T |
C |
2: 106,887,638 (GRCm39) |
E127G |
possibly damaging |
Het |
| Galk2 |
A |
G |
2: 125,701,137 (GRCm39) |
|
probably benign |
Het |
| Gid4 |
A |
G |
11: 60,323,241 (GRCm39) |
D111G |
probably damaging |
Het |
| Gm14412 |
G |
A |
2: 177,006,330 (GRCm39) |
P522S |
probably damaging |
Het |
| Iqank1 |
A |
G |
15: 75,917,237 (GRCm39) |
E290G |
probably damaging |
Het |
| Mfap4 |
A |
G |
11: 61,376,245 (GRCm39) |
|
probably null |
Het |
| Mfsd2a |
A |
G |
4: 122,845,039 (GRCm39) |
V224A |
probably benign |
Het |
| Mocos |
A |
T |
18: 24,809,639 (GRCm39) |
Y414F |
probably benign |
Het |
| Mrto4 |
T |
C |
4: 139,077,755 (GRCm39) |
I27V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,554,958 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,840,752 (GRCm39) |
I534N |
probably damaging |
Het |
| Mup20 |
A |
T |
4: 61,972,267 (GRCm39) |
L7Q |
unknown |
Het |
| Nlrp2 |
T |
C |
7: 5,340,808 (GRCm39) |
E2G |
probably damaging |
Het |
| Or11g1 |
A |
G |
14: 50,651,654 (GRCm39) |
I218V |
possibly damaging |
Het |
| Or12k7 |
A |
G |
2: 36,959,091 (GRCm39) |
Y258C |
possibly damaging |
Het |
| Or2y16 |
T |
C |
11: 49,335,299 (GRCm39) |
V207A |
probably benign |
Het |
| Or6z5 |
C |
T |
7: 6,477,835 (GRCm39) |
A242V |
probably damaging |
Het |
| Parn |
T |
C |
16: 13,469,675 (GRCm39) |
T209A |
possibly damaging |
Het |
| Psip1 |
T |
A |
4: 83,391,286 (GRCm39) |
|
probably null |
Het |
| Ptprc |
A |
C |
1: 137,995,628 (GRCm39) |
C1157G |
probably damaging |
Het |
| Rad17 |
A |
C |
13: 100,759,389 (GRCm39) |
V546G |
probably benign |
Het |
| Rc3h2 |
GCC |
GCCC |
2: 37,304,745 (GRCm39) |
|
probably null |
Het |
| Safb |
A |
G |
17: 56,904,798 (GRCm39) |
E124G |
probably damaging |
Het |
| Sart3 |
C |
T |
5: 113,881,267 (GRCm39) |
A938T |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,392,907 (GRCm39) |
T1242A |
unknown |
Het |
| Slc13a5 |
C |
T |
11: 72,144,023 (GRCm39) |
E352K |
probably benign |
Het |
| Sohlh2 |
G |
T |
3: 55,104,419 (GRCm39) |
V263F |
probably benign |
Het |
| Strn |
A |
G |
17: 79,008,298 (GRCm39) |
Y107H |
probably damaging |
Het |
| Tbx15 |
G |
T |
3: 99,161,203 (GRCm39) |
E3* |
probably null |
Het |
| Tespa1 |
A |
G |
10: 130,183,172 (GRCm39) |
D39G |
probably benign |
Het |
| Trp73 |
A |
T |
4: 154,188,798 (GRCm39) |
D54E |
probably damaging |
Het |
| Ttll5 |
A |
T |
12: 85,980,151 (GRCm39) |
S912C |
probably damaging |
Het |
| Utp14b |
A |
T |
1: 78,643,554 (GRCm39) |
D484V |
probably benign |
Het |
| Utp14b |
A |
C |
1: 78,643,557 (GRCm39) |
N485T |
probably benign |
Het |
| Vmn2r29 |
T |
C |
7: 7,234,369 (GRCm39) |
E839G |
probably benign |
Het |
| Vmn2r6 |
G |
C |
3: 64,467,176 (GRCm39) |
P108A |
probably damaging |
Het |
| Vps8 |
T |
G |
16: 21,314,682 (GRCm39) |
|
probably null |
Het |
| Zfp36l1 |
A |
T |
12: 80,156,320 (GRCm39) |
|
probably null |
Het |
| Zfp998 |
T |
A |
13: 66,579,608 (GRCm39) |
T292S |
probably benign |
Het |
| Zp3r |
A |
T |
1: 130,519,305 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- CACGCAGCAGCAGTTTAGTAATC -3'
(R):5'- AAAATATAATGGTGTGCCTGTAGGG -3'
Sequencing Primer
(F):5'- CGCAGCAGCAGTTTAGTAATCAAAAG -3'
(R):5'- AGGGTGGTCTAATGATTTGAAATTGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation