Incidental Mutation 'IGL02029:Cadm2'
| ID |
184309 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cadm2
|
| Ensembl Gene |
ENSMUSG00000064115 |
| Gene Name |
cell adhesion molecule 2 |
| Synonyms |
SynCAM2, Necl3, A830029E02Rik, Igsf4d, 2900078E11Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.463)
|
| Stock # |
IGL02029
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
66452307-67417796 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 66544182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 291
(N291K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114292]
[ENSMUST00000120594]
[ENSMUST00000120898]
[ENSMUST00000128168]
|
| AlphaFold |
Q8BLQ9 |
| PDB Structure |
Crystal structure of Ig1 domain of mouse SynCAM 2 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114292
AA Change: N291K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: N291K
| 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: N282K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: N282K
| 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: N282K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: N282K
| 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: ENSMUST00000128168
AA Change: N282K
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: N282K
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
T |
C |
10: 126,916,152 (GRCm39) |
V221A |
unknown |
Het |
| Akr1c13 |
T |
A |
13: 4,255,361 (GRCm39) |
Y317* |
probably null |
Het |
| Bicd2 |
T |
A |
13: 49,522,975 (GRCm39) |
I30N |
probably damaging |
Het |
| Ccdc61 |
C |
T |
7: 18,637,423 (GRCm39) |
C68Y |
probably damaging |
Het |
| Ccnl2 |
A |
G |
4: 155,906,319 (GRCm39) |
S351G |
probably benign |
Het |
| Cdcp1 |
A |
G |
9: 123,012,899 (GRCm39) |
|
probably benign |
Het |
| Clhc1 |
T |
C |
11: 29,510,798 (GRCm39) |
S256P |
probably benign |
Het |
| Fam83h |
T |
C |
15: 75,878,287 (GRCm39) |
E37G |
probably damaging |
Het |
| Fancd2 |
C |
T |
6: 113,547,936 (GRCm39) |
L938F |
probably benign |
Het |
| Fbn2 |
G |
T |
18: 58,342,675 (GRCm39) |
A68E |
probably benign |
Het |
| Fcrl1 |
T |
A |
3: 87,283,794 (GRCm39) |
|
probably benign |
Het |
| Ganc |
A |
G |
2: 120,290,338 (GRCm39) |
T892A |
probably benign |
Het |
| Gramd1a |
C |
T |
7: 30,832,249 (GRCm39) |
R596H |
possibly damaging |
Het |
| Limk1 |
A |
T |
5: 134,686,808 (GRCm39) |
Y518* |
probably null |
Het |
| Map1a |
A |
G |
2: 121,133,779 (GRCm39) |
T1294A |
possibly damaging |
Het |
| Marchf3 |
G |
A |
18: 56,940,753 (GRCm39) |
P126S |
probably benign |
Het |
| Ntn5 |
A |
G |
7: 45,336,015 (GRCm39) |
I149V |
probably benign |
Het |
| Nup43 |
T |
C |
10: 7,543,347 (GRCm39) |
F8L |
possibly damaging |
Het |
| Or5b122 |
A |
T |
19: 13,563,468 (GRCm39) |
M267L |
probably benign |
Het |
| Or5be3 |
A |
G |
2: 86,864,245 (GRCm39) |
F107L |
probably benign |
Het |
| P2rx6 |
C |
T |
16: 17,385,959 (GRCm39) |
S236F |
probably benign |
Het |
| Peg10 |
G |
T |
6: 4,754,473 (GRCm39) |
|
probably benign |
Het |
| Runx2 |
T |
A |
17: 44,969,574 (GRCm39) |
R238* |
probably null |
Het |
| Serpinb9d |
A |
T |
13: 33,380,512 (GRCm39) |
I133L |
possibly damaging |
Het |
| Snph |
A |
G |
2: 151,435,527 (GRCm39) |
V434A |
probably damaging |
Het |
| Trp53rkb |
C |
A |
2: 166,637,314 (GRCm39) |
P90Q |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,580,148 (GRCm39) |
E21836* |
probably null |
Het |
| Tut7 |
A |
G |
13: 59,932,702 (GRCm39) |
|
probably benign |
Het |
| Ube3c |
T |
A |
5: 29,824,326 (GRCm39) |
F507I |
probably damaging |
Het |
| Ugt1a6a |
T |
C |
1: 88,066,403 (GRCm39) |
S70P |
probably benign |
Het |
| Zfp354b |
C |
T |
11: 50,814,664 (GRCm39) |
C87Y |
probably benign |
Het |
| Zfp462 |
G |
T |
4: 55,079,395 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation