Incidental Mutation 'R8166:Cadm2'
ID |
633806 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cadm2
|
Ensembl Gene |
ENSMUSG00000064115 |
Gene Name |
cell adhesion molecule 2 |
Synonyms |
SynCAM2, Necl3, A830029E02Rik, Igsf4d, 2900078E11Rik |
MMRRC Submission |
067592-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.463)
|
Stock # |
R8166 (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 G
at 66750197 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 9
(L9S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134554
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114292]
[ENSMUST00000120594]
[ENSMUST00000120898]
[ENSMUST00000123266]
[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
|
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 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: ENSMUST00000123266
|
SMART Domains |
Protein: ENSMUSP00000123192 Gene: ENSMUSG00000064115
Domain | Start | End | E-Value | Type |
Blast:IG_like
|
19 |
53 |
1e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128168
AA Change: L9S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000134554 Gene: ENSMUSG00000064115 AA Change: L9S
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: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (59/59) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
T |
C |
3: 36,144,232 (GRCm39) |
V569A |
probably benign |
Het |
Actrt3 |
A |
G |
3: 30,652,674 (GRCm39) |
F140S |
probably damaging |
Het |
Alx1 |
T |
A |
10: 102,845,224 (GRCm39) |
Q269L |
probably damaging |
Het |
Amph |
G |
T |
13: 19,132,660 (GRCm39) |
A20S |
possibly damaging |
Het |
Aqr |
T |
A |
2: 113,943,806 (GRCm39) |
M1111L |
possibly damaging |
Het |
Atp10a |
A |
T |
7: 58,457,270 (GRCm39) |
H923L |
possibly damaging |
Het |
Bmpr1a |
A |
C |
14: 34,147,026 (GRCm39) |
W249G |
probably damaging |
Het |
Bmpr2 |
A |
T |
1: 59,906,740 (GRCm39) |
N611I |
probably damaging |
Het |
Ccdc102a |
C |
A |
8: 95,639,944 (GRCm39) |
A117S |
possibly damaging |
Het |
Clec4f |
G |
T |
6: 83,629,624 (GRCm39) |
S311R |
possibly damaging |
Het |
Dchs2 |
T |
A |
3: 83,261,640 (GRCm39) |
I2636N |
probably benign |
Het |
Dync2h1 |
T |
A |
9: 7,129,089 (GRCm39) |
K1809* |
probably null |
Het |
Efs |
C |
T |
14: 55,158,077 (GRCm39) |
R108Q |
probably damaging |
Het |
Eif5b |
A |
G |
1: 38,087,901 (GRCm39) |
T966A |
probably benign |
Het |
Entrep2 |
A |
G |
7: 64,409,153 (GRCm39) |
S414P |
probably benign |
Het |
Flnc |
A |
C |
6: 29,433,731 (GRCm39) |
N92H |
probably damaging |
Het |
Gm13030 |
A |
T |
4: 138,598,533 (GRCm39) |
L130H |
unknown |
Het |
Gm17190 |
A |
C |
13: 96,219,142 (GRCm39) |
R159S |
unknown |
Het |
Hipk1 |
T |
C |
3: 103,685,489 (GRCm39) |
Y42C |
possibly damaging |
Het |
Ifi207 |
C |
A |
1: 173,557,166 (GRCm39) |
C524F |
possibly damaging |
Het |
Ifi207 |
A |
C |
1: 173,557,504 (GRCm39) |
S411R |
probably benign |
Het |
Ighv8-9 |
G |
T |
12: 115,432,212 (GRCm39) |
P33H |
probably damaging |
Het |
Igkv8-34 |
A |
G |
6: 70,021,619 (GRCm39) |
V15A |
probably benign |
Het |
Irx5 |
T |
A |
8: 93,086,712 (GRCm39) |
|
probably null |
Het |
Kcnh4 |
A |
G |
11: 100,632,712 (GRCm39) |
L925P |
probably benign |
Het |
Kctd9 |
G |
A |
14: 67,967,141 (GRCm39) |
R153H |
possibly damaging |
Het |
Lats1 |
A |
G |
10: 7,577,880 (GRCm39) |
T335A |
probably benign |
Het |
Med20 |
A |
G |
17: 47,924,027 (GRCm39) |
T52A |
probably benign |
Het |
Msantd4 |
A |
T |
9: 4,384,095 (GRCm39) |
T139S |
possibly damaging |
Het |
Mtif3 |
T |
C |
5: 146,896,052 (GRCm39) |
T12A |
probably benign |
Het |
N4bp2 |
T |
G |
5: 65,977,655 (GRCm39) |
S1518A |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,515 (GRCm39) |
N507S |
probably benign |
Het |
Nasp |
A |
T |
4: 116,468,112 (GRCm39) |
V291E |
probably benign |
Het |
Ncapg2 |
T |
G |
12: 116,376,036 (GRCm39) |
D40E |
probably benign |
Het |
Nipsnap1 |
A |
G |
11: 4,834,057 (GRCm39) |
D103G |
probably benign |
Het |
Nsmce1 |
A |
G |
7: 125,070,319 (GRCm39) |
L164P |
probably damaging |
Het |
Ogdhl |
G |
A |
14: 32,059,763 (GRCm39) |
V426I |
probably damaging |
Het |
Or5p66 |
A |
G |
7: 107,885,904 (GRCm39) |
V143A |
probably benign |
Het |
P3h2 |
T |
C |
16: 25,811,572 (GRCm39) |
E217G |
possibly damaging |
Het |
Pnpt1 |
A |
G |
11: 29,106,875 (GRCm39) |
I649V |
probably benign |
Het |
Prxl2c |
A |
T |
13: 64,456,921 (GRCm39) |
Y101N |
|
Het |
Pum2 |
G |
A |
12: 8,771,739 (GRCm39) |
A361T |
possibly damaging |
Het |
Rictor |
G |
A |
15: 6,798,815 (GRCm39) |
|
probably null |
Het |
Rps6ka4 |
G |
A |
19: 6,814,811 (GRCm39) |
R264W |
possibly damaging |
Het |
Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Sall1 |
T |
C |
8: 89,755,146 (GRCm39) |
T1278A |
probably benign |
Het |
Scg2 |
T |
A |
1: 79,413,300 (GRCm39) |
K434N |
possibly damaging |
Het |
Suclg1 |
T |
A |
6: 73,237,555 (GRCm39) |
V100D |
probably damaging |
Het |
Tarbp1 |
T |
G |
8: 127,153,867 (GRCm39) |
E1528D |
possibly damaging |
Het |
Trgc1 |
A |
G |
13: 19,400,772 (GRCm39) |
N167S |
|
Het |
Tshz2 |
C |
A |
2: 169,725,575 (GRCm39) |
T57K |
probably benign |
Het |
Ttc22 |
G |
A |
4: 106,491,673 (GRCm39) |
R229H |
probably damaging |
Het |
Vcan |
A |
G |
13: 89,840,855 (GRCm39) |
V1563A |
probably benign |
Het |
Vmn1r68 |
A |
T |
7: 10,261,888 (GRCm39) |
M70K |
probably benign |
Het |
Vmn2r105 |
A |
T |
17: 20,428,904 (GRCm39) |
I724N |
probably benign |
Het |
Vmn2r96 |
T |
C |
17: 18,802,744 (GRCm39) |
L26P |
probably damaging |
Het |
Wdr72 |
G |
A |
9: 74,120,610 (GRCm39) |
S955N |
probably benign |
Het |
Zfp518b |
C |
A |
5: 38,831,838 (GRCm39) |
A56S |
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 |
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 |
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'- TGCAAACACAGACATGCATG -3'
(R):5'- CGTTTTCTCCTCAAGAATCATATGC -3'
Sequencing Primer
(F):5'- GACATGCATGAGAAACTAAACCTTC -3'
(R):5'- TCCTCAAGAATCATATGCTAACAAC -3'
|
Posted On |
2020-07-13 |