Incidental Mutation 'R7322:Cadm2'
ID |
568243 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cadm2
|
Ensembl Gene |
ENSMUSG00000064115 |
Gene Name |
cell adhesion molecule 2 |
Synonyms |
SynCAM2, Necl3, A830029E02Rik, Igsf4d, 2900078E11Rik |
MMRRC Submission |
045417-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.463)
|
Stock # |
R7322 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
66452307-67417796 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 66679734 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 42
(T42M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109931
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114292]
[ENSMUST00000120594]
[ENSMUST00000120898]
[ENSMUST00000123266]
[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: T42M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000109931 Gene: ENSMUSG00000064115 AA Change: T42M
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: T33M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113500 Gene: ENSMUSG00000064115 AA Change: T33M
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: T33M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113178 Gene: ENSMUSG00000064115 AA Change: T33M
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: T33M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134554 Gene: ENSMUSG00000064115 AA Change: T33M
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
T |
4: 53,067,151 (GRCm39) |
V1352D |
probably damaging |
Het |
Adam33 |
C |
T |
2: 130,895,614 (GRCm39) |
C567Y |
probably damaging |
Het |
Alppl2 |
C |
A |
1: 87,015,184 (GRCm39) |
G422C |
probably benign |
Het |
Ang |
T |
A |
14: 51,338,868 (GRCm39) |
I3K |
unknown |
Het |
Ankrd10 |
A |
T |
8: 11,665,841 (GRCm39) |
V253E |
probably damaging |
Het |
Arhgef17 |
T |
C |
7: 100,527,004 (GRCm39) |
I806V |
probably benign |
Het |
Atp10b |
T |
C |
11: 43,103,374 (GRCm39) |
L586P |
probably damaging |
Het |
Bdkrb1 |
T |
C |
12: 105,570,563 (GRCm39) |
V43A |
possibly damaging |
Het |
Brinp3 |
C |
T |
1: 146,558,426 (GRCm39) |
R117* |
probably null |
Het |
Brwd1 |
A |
T |
16: 95,867,319 (GRCm39) |
M172K |
probably damaging |
Het |
Bsn |
G |
A |
9: 108,003,620 (GRCm39) |
R262* |
probably null |
Het |
Bst2 |
A |
C |
8: 71,989,851 (GRCm39) |
L74R |
probably damaging |
Het |
C1qa |
T |
C |
4: 136,623,465 (GRCm39) |
*246W |
probably null |
Het |
Ccdc150 |
A |
G |
1: 54,299,125 (GRCm39) |
T34A |
probably benign |
Het |
Ccdc178 |
G |
A |
18: 22,238,606 (GRCm39) |
T337M |
probably benign |
Het |
Ccl8 |
T |
C |
11: 82,007,408 (GRCm39) |
V81A |
probably damaging |
Het |
Dgcr6 |
A |
G |
16: 17,888,771 (GRCm39) |
T69A |
unknown |
Het |
Dnah10 |
A |
G |
5: 124,898,333 (GRCm39) |
D3762G |
probably benign |
Het |
Eif3d |
T |
C |
15: 77,845,876 (GRCm39) |
T382A |
probably benign |
Het |
Epb41 |
A |
T |
4: 131,717,030 (GRCm39) |
Y375N |
probably damaging |
Het |
Epb41l1 |
A |
T |
2: 156,345,771 (GRCm39) |
H258L |
probably damaging |
Het |
Fbn1 |
A |
C |
2: 125,321,115 (GRCm39) |
I81S |
possibly damaging |
Het |
Fzd5 |
A |
G |
1: 64,774,487 (GRCm39) |
S425P |
probably damaging |
Het |
Gfra2 |
T |
A |
14: 71,205,831 (GRCm39) |
V398D |
probably benign |
Het |
Gm3755 |
A |
G |
14: 18,620,904 (GRCm39) |
L130P |
|
Het |
Grin3b |
A |
G |
10: 79,811,529 (GRCm39) |
Y705C |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,349,093 (GRCm39) |
D4944G |
probably damaging |
Het |
Hoxd11 |
T |
C |
2: 74,514,355 (GRCm39) |
L295P |
probably damaging |
Het |
Ighv1-81 |
C |
A |
12: 115,884,287 (GRCm39) |
G16C |
possibly damaging |
Het |
Kcna5 |
T |
C |
6: 126,510,754 (GRCm39) |
D458G |
possibly damaging |
Het |
Klb |
A |
T |
5: 65,540,707 (GRCm39) |
E933D |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,381,433 (GRCm39) |
M3855K |
probably benign |
Het |
Map3k4 |
A |
T |
17: 12,489,833 (GRCm39) |
L533I |
probably damaging |
Het |
Mrps6 |
C |
A |
16: 91,855,335 (GRCm39) |
Y4* |
probably null |
Het |
Nabp1 |
A |
T |
1: 51,512,229 (GRCm39) |
V105E |
probably damaging |
Het |
Naip6 |
T |
A |
13: 100,435,896 (GRCm39) |
N876Y |
possibly damaging |
Het |
Nlrp2 |
T |
C |
7: 5,311,644 (GRCm39) |
S944G |
possibly damaging |
Het |
Nr4a3 |
A |
T |
4: 48,083,238 (GRCm39) |
E590D |
probably benign |
Het |
Or10h5 |
A |
G |
17: 33,434,673 (GRCm39) |
I215T |
probably damaging |
Het |
Or1b1 |
T |
C |
2: 36,995,603 (GRCm39) |
R20G |
probably null |
Het |
Or52ab2 |
T |
A |
7: 102,970,494 (GRCm39) |
V292E |
|
Het |
Or5j1 |
A |
T |
2: 86,878,823 (GRCm39) |
Y252* |
probably null |
Het |
Or8k22 |
C |
T |
2: 86,162,908 (GRCm39) |
S264N |
probably benign |
Het |
Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,437,248 (GRCm39) |
D451G |
probably damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,146,129 (GRCm39) |
S142P |
probably benign |
Het |
Postn |
T |
C |
3: 54,277,701 (GRCm39) |
L232P |
probably damaging |
Het |
Prss8 |
T |
C |
7: 127,528,735 (GRCm39) |
T33A |
probably benign |
Het |
Ptgr3 |
A |
G |
18: 84,113,260 (GRCm39) |
Y312C |
probably damaging |
Het |
Rapgef2 |
A |
T |
3: 79,053,130 (GRCm39) |
M1K |
probably null |
Het |
Rasa3 |
T |
C |
8: 13,645,857 (GRCm39) |
N161S |
possibly damaging |
Het |
Riox1 |
G |
A |
12: 83,997,442 (GRCm39) |
|
probably benign |
Het |
Rmdn2 |
A |
T |
17: 79,929,040 (GRCm39) |
K97N |
probably damaging |
Het |
Sgo1 |
A |
G |
17: 53,984,085 (GRCm39) |
L431P |
probably damaging |
Het |
Slc9a8 |
T |
A |
2: 167,293,222 (GRCm39) |
V217E |
probably damaging |
Het |
Slco2b1 |
C |
T |
7: 99,341,055 (GRCm39) |
G21D |
not run |
Het |
Spata31d1d |
C |
A |
13: 59,874,790 (GRCm39) |
R915L |
probably benign |
Het |
Stk17b |
A |
T |
1: 53,805,104 (GRCm39) |
N152K |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,030,798 (GRCm39) |
I3634N |
probably damaging |
Het |
Tnfrsf9 |
A |
G |
4: 151,018,794 (GRCm39) |
D155G |
probably damaging |
Het |
Tnrc6a |
T |
A |
7: 122,770,731 (GRCm39) |
D840E |
probably benign |
Het |
Tyk2 |
G |
A |
9: 21,021,500 (GRCm39) |
S902L |
probably benign |
Het |
Unc119 |
T |
C |
11: 78,239,449 (GRCm39) |
S235P |
probably damaging |
Het |
Vav1 |
A |
C |
17: 57,609,266 (GRCm39) |
D394A |
probably benign |
Het |
Vezf1 |
T |
A |
11: 87,972,410 (GRCm39) |
I439K |
possibly damaging |
Het |
Zfp335 |
A |
T |
2: 164,752,741 (GRCm39) |
M1K |
probably null |
Het |
Zfp715 |
T |
C |
7: 42,960,562 (GRCm39) |
T10A |
possibly damaging |
Het |
Zmynd11 |
C |
T |
13: 9,740,445 (GRCm39) |
E382K |
possibly 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 |
|
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 |
|
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'- GTACACGCAGCAGCAGTTTAG -3'
(R):5'- AAAATATAATGGTGTGCCTGTAGGG -3'
Sequencing Primer
(F):5'- CGCAGCAGCAGTTTAGTAATC -3'
(R):5'- AGGGTGGTCTAATGATTTGAAATTGC -3'
|
Posted On |
2019-06-26 |