Incidental Mutation 'IGL01137:Cadm2'
| ID |
52964 |
| 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 # |
IGL01137
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
66452307-67417796 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 66612238 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 108
(T108I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114292]
[ENSMUST00000120594]
[ENSMUST00000120898]
[ENSMUST00000123266]
[ENSMUST00000128168]
|
| AlphaFold |
Q8BLQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114292
AA Change: T117I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: T117I
| 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 damaging
Transcript: ENSMUST00000120594
AA Change: T108I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: T108I
| 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 damaging
Transcript: ENSMUST00000120898
AA Change: T108I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: T108I
| 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 damaging
Transcript: ENSMUST00000128168
AA Change: T108I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: T108I
| 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
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts20 |
C |
A |
15: 94,292,492 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,611,075 (GRCm39) |
T2583A |
probably damaging |
Het |
| Anxa7 |
G |
A |
14: 20,506,648 (GRCm39) |
Q431* |
probably null |
Het |
| Asb15 |
T |
A |
6: 24,556,521 (GRCm39) |
D5E |
probably benign |
Het |
| Bex1 |
C |
A |
X: 135,115,243 (GRCm39) |
D29Y |
probably damaging |
Het |
| Cecr2 |
T |
G |
6: 120,738,989 (GRCm39) |
L1211V |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,449,035 (GRCm39) |
|
probably benign |
Het |
| Ctrc |
C |
A |
4: 141,566,065 (GRCm39) |
V198L |
possibly damaging |
Het |
| Cyp2g1 |
A |
G |
7: 26,513,684 (GRCm39) |
S208G |
possibly damaging |
Het |
| Ddx46 |
T |
A |
13: 55,817,530 (GRCm39) |
Y718* |
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,966,379 (GRCm39) |
I1116T |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,037,689 (GRCm39) |
Y2177H |
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,919,486 (GRCm39) |
F661S |
probably damaging |
Het |
| Dpy19l2 |
G |
A |
9: 24,569,858 (GRCm39) |
T365I |
possibly damaging |
Het |
| Flot2 |
T |
C |
11: 77,940,333 (GRCm39) |
Y27H |
probably damaging |
Het |
| Gsta4 |
T |
C |
9: 78,113,204 (GRCm39) |
Y95H |
possibly damaging |
Het |
| Kir3dl1 |
A |
G |
X: 135,427,360 (GRCm39) |
T192A |
probably damaging |
Het |
| Llgl1 |
T |
A |
11: 60,600,825 (GRCm39) |
N640K |
probably benign |
Het |
| Lrch1 |
C |
T |
14: 74,994,532 (GRCm39) |
V691M |
probably damaging |
Het |
| Myh9 |
T |
C |
15: 77,653,742 (GRCm39) |
D1302G |
probably benign |
Het |
| Myo18a |
T |
G |
11: 77,718,655 (GRCm39) |
F935V |
probably damaging |
Het |
| Mypn |
T |
C |
10: 62,988,633 (GRCm39) |
E464G |
probably benign |
Het |
| Or52l1 |
A |
G |
7: 104,829,695 (GRCm39) |
V290A |
probably benign |
Het |
| Or5ac25 |
A |
C |
16: 59,182,335 (GRCm39) |
M82R |
probably benign |
Het |
| Or5b101 |
A |
T |
19: 13,005,394 (GRCm39) |
F100I |
possibly damaging |
Het |
| Or8k38 |
A |
T |
2: 86,488,055 (GRCm39) |
I249N |
possibly damaging |
Het |
| R3hdm1 |
C |
T |
1: 128,109,612 (GRCm39) |
R39C |
probably damaging |
Het |
| Rps3a3 |
A |
T |
13: 108,807,666 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
C |
T |
3: 129,801,093 (GRCm39) |
S401N |
probably benign |
Het |
| Slc22a22 |
C |
A |
15: 57,117,674 (GRCm39) |
G289V |
probably damaging |
Het |
| Stk33 |
T |
C |
7: 108,928,775 (GRCm39) |
I246V |
probably benign |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Timmdc1 |
A |
T |
16: 38,338,747 (GRCm39) |
H114Q |
probably benign |
Het |
| Tlcd2 |
T |
C |
11: 75,360,337 (GRCm39) |
Y127H |
probably damaging |
Het |
| Tnfrsf11a |
G |
A |
1: 105,737,147 (GRCm39) |
D85N |
possibly damaging |
Het |
| Trbc2 |
T |
C |
6: 41,524,751 (GRCm39) |
|
probably benign |
Het |
| Unc13b |
G |
A |
4: 43,091,291 (GRCm39) |
R39H |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,341,087 (GRCm39) |
L1521P |
probably damaging |
Het |
| Zbtb17 |
T |
A |
4: 141,193,678 (GRCm39) |
C607* |
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 |
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation