Incidental Mutation 'R8325:Cadm2'
| ID |
644078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cadm2
|
| Ensembl Gene |
ENSMUSG00000064115 |
| Gene Name |
cell adhesion molecule 2 |
| Synonyms |
SynCAM2, Necl3, A830029E02Rik, Igsf4d, 2900078E11Rik |
| MMRRC Submission |
067857-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.463)
|
| Stock # |
R8325 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
66452307-67417796 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 66612338 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 84
(N84Y)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000114292
AA Change: N84Y
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: N84Y
| 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: N75Y
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: N75Y
| 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 |
possibly damaging
Transcript: ENSMUST00000120898
AA Change: N75Y
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: N75Y
| 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: N75Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: N75Y
| 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: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (51/51) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
T |
C |
15: 89,453,954 (GRCm39) |
V97A |
probably benign |
Het |
| Agrn |
C |
T |
4: 156,258,119 (GRCm39) |
G1081D |
probably benign |
Het |
| Ang2 |
A |
G |
14: 51,432,960 (GRCm39) |
S141P |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,134,237 (GRCm39) |
|
probably null |
Het |
| Apba2 |
A |
T |
7: 64,345,730 (GRCm39) |
T307S |
probably benign |
Het |
| Camsap1 |
T |
C |
2: 25,829,375 (GRCm39) |
D783G |
probably benign |
Het |
| Ccdc62 |
T |
C |
5: 124,092,448 (GRCm39) |
C478R |
probably benign |
Het |
| Cep290 |
A |
C |
10: 100,353,670 (GRCm39) |
H801P |
probably benign |
Het |
| Chfr |
T |
A |
5: 110,310,629 (GRCm39) |
Y555* |
probably null |
Het |
| Cmas |
T |
C |
6: 142,717,065 (GRCm39) |
|
probably null |
Het |
| Cmtm7 |
T |
C |
9: 114,592,415 (GRCm39) |
I61V |
probably benign |
Het |
| Cyb5d2 |
A |
G |
11: 72,669,651 (GRCm39) |
S236P |
possibly damaging |
Het |
| Dcp1b |
C |
T |
6: 119,192,397 (GRCm39) |
Q438* |
probably null |
Het |
| Dgcr8 |
T |
C |
16: 18,076,149 (GRCm39) |
Q678R |
probably damaging |
Het |
| Emc1 |
T |
A |
4: 139,092,521 (GRCm39) |
M487K |
possibly damaging |
Het |
| Gm7361 |
T |
C |
5: 26,467,154 (GRCm39) |
S258P |
probably damaging |
Het |
| Hbs1l |
A |
G |
10: 21,183,548 (GRCm39) |
I96M |
probably benign |
Het |
| Ifi27l2a |
G |
A |
12: 103,409,144 (GRCm39) |
A49V |
unknown |
Het |
| Igkv10-96 |
T |
C |
6: 68,609,088 (GRCm39) |
Y69C |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,225,954 (GRCm39) |
V2573D |
probably damaging |
Het |
| Kcng3 |
T |
C |
17: 83,939,007 (GRCm39) |
N14S |
possibly damaging |
Het |
| Kif20a |
A |
G |
18: 34,759,975 (GRCm39) |
T94A |
possibly damaging |
Het |
| Lcp2 |
T |
A |
11: 34,032,394 (GRCm39) |
V324E |
probably benign |
Het |
| Lmod3 |
T |
C |
6: 97,224,379 (GRCm39) |
K481E |
probably benign |
Het |
| Met |
A |
G |
6: 17,571,671 (GRCm39) |
E1330G |
probably damaging |
Het |
| Mroh1 |
GCCCAGGCCCC |
GCC |
15: 76,316,415 (GRCm39) |
|
probably null |
Het |
| Mss51 |
T |
C |
14: 20,534,771 (GRCm39) |
D333G |
possibly damaging |
Het |
| Nav3 |
A |
G |
10: 109,541,464 (GRCm39) |
V1933A |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,338,796 (GRCm39) |
Y212C |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,521,608 (GRCm39) |
I104M |
probably benign |
Het |
| Npsr1 |
C |
T |
9: 24,198,118 (GRCm39) |
|
probably benign |
Het |
| Nt5e |
A |
G |
9: 88,245,615 (GRCm39) |
E295G |
probably benign |
Het |
| Or6b1 |
T |
C |
6: 42,815,124 (GRCm39) |
F103S |
probably damaging |
Het |
| Or9m1b |
A |
T |
2: 87,836,537 (GRCm39) |
L186Q |
probably damaging |
Het |
| Papss1 |
A |
G |
3: 131,288,372 (GRCm39) |
T136A |
probably benign |
Het |
| Pcdha1 |
A |
T |
18: 37,063,867 (GRCm39) |
D177V |
possibly damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,574,973 (GRCm39) |
S308C |
probably damaging |
Het |
| Pdhx |
G |
T |
2: 102,872,597 (GRCm39) |
P162T |
probably benign |
Het |
| Plin3 |
C |
T |
17: 56,593,268 (GRCm39) |
R98Q |
probably benign |
Het |
| Prr36 |
T |
C |
8: 4,262,982 (GRCm39) |
T895A |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,321,271 (GRCm39) |
N1243S |
|
Het |
| Serpinb1b |
A |
T |
13: 33,277,584 (GRCm39) |
K272N |
probably benign |
Het |
| Sez6l |
A |
T |
5: 112,575,982 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
T |
10: 5,096,257 (GRCm39) |
M739K |
probably benign |
Het |
| Tbc1d9 |
G |
A |
8: 83,966,667 (GRCm39) |
|
probably null |
Het |
| Trp53inp1 |
A |
G |
4: 11,164,561 (GRCm39) |
D35G |
probably damaging |
Het |
| Trpc7 |
A |
G |
13: 56,952,524 (GRCm39) |
V549A |
probably damaging |
Het |
| Usp18 |
T |
C |
6: 121,230,769 (GRCm39) |
L66S |
probably damaging |
Het |
| Vmn1r238 |
C |
T |
18: 3,122,529 (GRCm39) |
S295N |
probably benign |
Het |
| Vmn2r29 |
T |
C |
7: 7,244,941 (GRCm39) |
D311G |
probably damaging |
Het |
| Vmn2r91 |
C |
A |
17: 18,356,625 (GRCm39) |
A764D |
probably damaging |
Het |
| Wdfy4 |
T |
A |
14: 32,689,444 (GRCm39) |
I3031F |
|
Het |
| Wdr7 |
A |
G |
18: 63,911,535 (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 |
|
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 |
|
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'- TCTGATTGAAACATGCTGTAGC -3'
(R):5'- CCATCAATCTCTTCCTCACTGAAAG -3'
Sequencing Primer
(F):5'- AGCAGGGCACATTTTTCTGAGAG -3'
(R):5'- ACTGTATTCCAGGTTGCAA -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation