Incidental Mutation 'R6188:Cadm2'
| ID |
502341 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cadm2
|
| Ensembl Gene |
ENSMUSG00000064115 |
| Gene Name |
cell adhesion molecule 2 |
| Synonyms |
SynCAM2, Necl3, A830029E02Rik, Igsf4d, 2900078E11Rik |
| MMRRC Submission |
044328-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.463)
|
| Stock # |
R6188 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
66452307-67417796 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 66612195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114292]
[ENSMUST00000120594]
[ENSMUST00000120898]
[ENSMUST00000123266]
[ENSMUST00000128168]
|
| AlphaFold |
Q8BLQ9 |
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000120594
|
| SMART Domains |
Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
| 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 null
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: ENSMUST00000123266
|
| SMART Domains |
Protein: ENSMUSP00000123192
Gene: ENSMUSG00000064115
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IG_like
|
19 |
53 |
1e-15 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128168
|
| SMART Domains |
Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
| 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
|
| Meta Mutation Damage Score |
0.9495 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
98% (61/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,331,850 (GRCm39) |
I88F |
possibly damaging |
Het |
| 4930407I10Rik |
T |
C |
15: 81,943,471 (GRCm39) |
S28P |
probably benign |
Het |
| a |
A |
T |
2: 154,889,602 (GRCm39) |
N56I |
probably damaging |
Het |
| Apoe |
C |
A |
7: 19,432,305 (GRCm39) |
|
probably benign |
Het |
| Aspm |
C |
A |
1: 139,406,977 (GRCm39) |
R1955S |
possibly damaging |
Het |
| Boc |
G |
A |
16: 44,319,911 (GRCm39) |
L358F |
possibly damaging |
Het |
| Ccdc183 |
T |
C |
2: 25,499,764 (GRCm39) |
E384G |
probably benign |
Het |
| Ccl12 |
A |
G |
11: 81,993,943 (GRCm39) |
T67A |
probably damaging |
Het |
| Cep120 |
T |
C |
18: 53,857,529 (GRCm39) |
D312G |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,229,952 (GRCm39) |
V1712A |
possibly damaging |
Het |
| Cmya5 |
A |
G |
13: 93,233,784 (GRCm39) |
S435P |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,699,361 (GRCm39) |
N997Y |
probably damaging |
Het |
| Dock2 |
T |
A |
11: 34,453,396 (GRCm39) |
I86F |
probably damaging |
Het |
| Duox1 |
A |
G |
2: 122,150,275 (GRCm39) |
Q168R |
probably benign |
Het |
| Epb41l4a |
T |
A |
18: 33,965,718 (GRCm39) |
I370L |
probably benign |
Het |
| Erc2 |
T |
A |
14: 28,039,208 (GRCm39) |
D950E |
probably damaging |
Het |
| Exoc6b |
A |
G |
6: 84,832,479 (GRCm39) |
V405A |
probably damaging |
Het |
| F13a1 |
T |
C |
13: 37,209,752 (GRCm39) |
D71G |
probably benign |
Het |
| Fam151a |
A |
T |
4: 106,602,696 (GRCm39) |
Y205F |
possibly damaging |
Het |
| Fcnb |
C |
A |
2: 27,969,202 (GRCm39) |
R165M |
possibly damaging |
Het |
| Fndc3a |
C |
T |
14: 72,827,401 (GRCm39) |
V50I |
probably damaging |
Het |
| Gm13276 |
C |
T |
4: 88,704,096 (GRCm39) |
Q51* |
probably null |
Het |
| Grik1 |
T |
C |
16: 87,852,959 (GRCm39) |
T75A |
probably benign |
Het |
| Grip2 |
A |
G |
6: 91,740,514 (GRCm39) |
L1015P |
probably damaging |
Het |
| Hnrnpk |
A |
G |
13: 58,541,967 (GRCm39) |
F339L |
probably benign |
Het |
| Iqgap3 |
A |
G |
3: 88,006,200 (GRCm39) |
D537G |
probably benign |
Het |
| Kars1 |
C |
T |
8: 112,735,113 (GRCm39) |
|
probably null |
Het |
| Kpna7 |
G |
T |
5: 144,929,654 (GRCm39) |
N390K |
probably damaging |
Het |
| Krt36 |
A |
T |
11: 99,993,246 (GRCm39) |
S410T |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,310,157 (GRCm39) |
E365G |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,803,018 (GRCm39) |
D17G |
probably benign |
Het |
| Lmbrd1 |
C |
A |
1: 24,750,626 (GRCm39) |
N166K |
probably benign |
Het |
| Lypd9 |
T |
C |
11: 58,337,182 (GRCm39) |
E97G |
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,139,059 (GRCm39) |
S44P |
probably damaging |
Het |
| Or2m12 |
A |
G |
16: 19,105,307 (GRCm39) |
M62T |
probably damaging |
Het |
| Or4a72 |
A |
T |
2: 89,405,538 (GRCm39) |
C177* |
probably null |
Het |
| Or5a3 |
A |
G |
19: 12,399,974 (GRCm39) |
I100M |
probably benign |
Het |
| Pcdhga6 |
T |
C |
18: 37,841,324 (GRCm39) |
V348A |
probably benign |
Het |
| Phc3 |
G |
A |
3: 30,991,198 (GRCm39) |
Q295* |
probably null |
Het |
| Phyh |
A |
G |
2: 4,932,301 (GRCm39) |
E129G |
probably damaging |
Het |
| Polb |
A |
G |
8: 23,137,463 (GRCm39) |
S96P |
probably damaging |
Het |
| Ppp1r9a |
A |
T |
6: 5,158,113 (GRCm39) |
K1174* |
probably null |
Het |
| Ppp1r9b |
C |
T |
11: 94,882,662 (GRCm39) |
R97W |
probably damaging |
Het |
| Pttg1ip |
T |
C |
10: 77,418,342 (GRCm39) |
|
probably null |
Het |
| Pygm |
G |
A |
19: 6,447,967 (GRCm39) |
|
probably null |
Het |
| Rgs20 |
GGAGAGAG |
GGAGAG |
1: 5,091,106 (GRCm39) |
|
probably null |
Het |
| Rlf |
T |
C |
4: 121,027,963 (GRCm39) |
H111R |
probably damaging |
Het |
| Rmdn3 |
A |
G |
2: 118,969,831 (GRCm39) |
|
probably null |
Het |
| Ror2 |
T |
A |
13: 53,265,347 (GRCm39) |
T570S |
probably damaging |
Het |
| Sel1l3 |
A |
C |
5: 53,313,061 (GRCm39) |
I542R |
possibly damaging |
Het |
| Serpinb3d |
A |
G |
1: 107,006,237 (GRCm39) |
F284L |
probably damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc38a2 |
A |
G |
15: 96,590,397 (GRCm39) |
|
probably null |
Het |
| Spata31e2 |
T |
A |
1: 26,724,784 (GRCm39) |
Y132F |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,121,091 (GRCm39) |
I3973T |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,186,087 (GRCm39) |
S1117G |
probably benign |
Het |
| Trav15-1-dv6-1 |
C |
T |
14: 53,797,414 (GRCm39) |
A21V |
probably damaging |
Het |
| Tsr3 |
G |
T |
17: 25,460,835 (GRCm39) |
D234Y |
probably null |
Het |
| Vmn1r220 |
A |
T |
13: 23,368,084 (GRCm39) |
L204H |
probably damaging |
Het |
| Vmn1r3 |
A |
T |
4: 3,185,017 (GRCm39) |
S97T |
probably damaging |
Het |
| Zfp599 |
A |
G |
9: 22,161,286 (GRCm39) |
F293S |
probably damaging |
Het |
| Zfp983 |
A |
G |
17: 21,877,935 (GRCm39) |
Y46C |
probably 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGCCTAAGACACAGTATAGC -3'
(R):5'- CCATCAATCTCTTCCTCACTGAAAG -3'
Sequencing Primer
(F):5'- TGCCTAAGACACAGTATAGCATCATG -3'
(R):5'- CTGTATTCCAGGTTGCAAAAATTG -3'
|
| Posted On |
2018-02-27 |
Incidental Mutation