Incidental Mutation 'R7882:Cadm2'
| ID |
608843 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cadm2
|
| Ensembl Gene |
ENSMUSG00000064115 |
| Gene Name |
cell adhesion molecule 2 |
| Synonyms |
SynCAM2, Necl3, A830029E02Rik, Igsf4d, 2900078E11Rik |
| MMRRC Submission |
045934-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.640)
|
| Stock # |
R7882 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
66452307-67417796 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66528357 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 326
(I326N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113500
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114292]
[ENSMUST00000120594]
[ENSMUST00000120898]
[ENSMUST00000128168]
|
| AlphaFold |
Q8BLQ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114292
|
| SMART Domains |
Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
| 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: I326N
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: I326N
| 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
|
| SMART Domains |
Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
| 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: I326N
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: I326N
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (48/48) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
C |
A |
3: 153,644,250 (GRCm39) |
E110* |
probably null |
Het |
| Adad1 |
G |
T |
3: 37,133,951 (GRCm39) |
V289F |
probably damaging |
Het |
| Adgra2 |
A |
G |
8: 27,607,440 (GRCm39) |
D717G |
probably benign |
Het |
| Arid3b |
T |
C |
9: 57,703,780 (GRCm39) |
I389M |
possibly damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,225,023 (GRCm39) |
V47A |
|
Het |
| Cachd1 |
T |
A |
4: 100,824,244 (GRCm39) |
L562M |
probably benign |
Het |
| Ccpg1 |
T |
C |
9: 72,922,787 (GRCm39) |
F799S |
probably damaging |
Het |
| Ces1c |
T |
C |
8: 93,833,231 (GRCm39) |
I411M |
probably benign |
Het |
| Cgn |
T |
G |
3: 94,669,941 (GRCm39) |
K1066N |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,330,684 (GRCm39) |
I101V |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,060,592 (GRCm39) |
E1928G |
probably benign |
Het |
| Cxcl12 |
A |
G |
6: 117,148,464 (GRCm39) |
Y28C |
probably damaging |
Het |
| Cyp2r1 |
A |
T |
7: 114,153,824 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
C |
T |
2: 104,087,974 (GRCm39) |
W334* |
probably null |
Het |
| Dsp |
G |
A |
13: 38,367,994 (GRCm39) |
R671Q |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,173,568 (GRCm39) |
K1960R |
probably benign |
Het |
| Fgd5 |
T |
A |
6: 92,045,459 (GRCm39) |
Y1331N |
probably damaging |
Het |
| Ina |
G |
A |
19: 47,004,100 (GRCm39) |
E303K |
|
Het |
| Kctd3 |
C |
A |
1: 188,715,243 (GRCm39) |
V369F |
possibly damaging |
Het |
| Kif14 |
T |
C |
1: 136,399,314 (GRCm39) |
|
probably null |
Het |
| Kif14 |
T |
C |
1: 136,443,763 (GRCm39) |
V1312A |
probably benign |
Het |
| Krt84 |
T |
C |
15: 101,436,826 (GRCm39) |
I403V |
probably benign |
Het |
| Krtap9-1 |
A |
C |
11: 99,764,356 (GRCm39) |
T31P |
unknown |
Het |
| Lyrm9 |
A |
T |
11: 78,728,967 (GRCm39) |
I60F |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,639,947 (GRCm39) |
|
probably null |
Het |
| Mmp28 |
T |
C |
11: 83,334,752 (GRCm39) |
D334G |
probably damaging |
Het |
| Nr1h5 |
T |
C |
3: 102,856,931 (GRCm39) |
T194A |
possibly damaging |
Het |
| Nrf1 |
A |
G |
6: 30,090,299 (GRCm39) |
I85M |
probably benign |
Het |
| Nrp2 |
C |
T |
1: 62,822,680 (GRCm39) |
R758C |
probably damaging |
Het |
| Or5b116 |
A |
T |
19: 13,422,951 (GRCm39) |
T192S |
probably benign |
Het |
| Pcdhga4 |
A |
G |
18: 37,819,681 (GRCm39) |
D410G |
probably damaging |
Het |
| Pld1 |
T |
C |
3: 28,099,158 (GRCm39) |
V275A |
probably damaging |
Het |
| Plxnc1 |
A |
T |
10: 94,679,698 (GRCm39) |
F895I |
probably benign |
Het |
| Polr2a |
A |
G |
11: 69,627,000 (GRCm39) |
I1486T |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,002,256 (GRCm39) |
M1449V |
probably benign |
Het |
| Rspo4 |
C |
A |
2: 151,711,746 (GRCm39) |
T156N |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,444,520 (GRCm39) |
I2189V |
probably benign |
Het |
| Stat5b |
A |
C |
11: 100,674,601 (GRCm39) |
F711V |
possibly damaging |
Het |
| Stk11ip |
C |
A |
1: 75,506,108 (GRCm39) |
Q543K |
probably benign |
Het |
| Tarbp1 |
G |
A |
8: 127,183,232 (GRCm39) |
T529M |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,736,624 (GRCm39) |
C886S |
possibly damaging |
Het |
| Tmem19 |
A |
G |
10: 115,179,608 (GRCm39) |
F296S |
probably benign |
Het |
| Tnfsf13b |
A |
G |
8: 10,057,078 (GRCm39) |
N79S |
not run |
Het |
| Vdac3 |
C |
A |
8: 23,069,073 (GRCm39) |
G214C |
probably damaging |
Het |
| Vmn2r18 |
A |
C |
5: 151,485,329 (GRCm39) |
F722V |
probably damaging |
Het |
| Vmn2r45 |
A |
G |
7: 8,486,409 (GRCm39) |
L293S |
possibly damaging |
Het |
| Vmn2r88 |
C |
G |
14: 51,650,503 (GRCm39) |
A72G |
probably benign |
Het |
| Xpot |
A |
G |
10: 121,454,996 (GRCm39) |
|
probably null |
Het |
| Zfp526 |
G |
A |
7: 24,920,860 (GRCm39) |
|
probably benign |
Het |
| Zfp532 |
A |
G |
18: 65,756,561 (GRCm39) |
T165A |
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 |
|
|
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 |
|
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'- GTTGGCTTAATCACATCGTCG -3'
(R):5'- TCAAACCTAGCTCCCGAATTTC -3'
Sequencing Primer
(F):5'- GCTCCACTTATTGGGCTT -3'
(R):5'- ATGACAGAACCTGTGTGTGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation