Incidental Mutation 'R6224:Cadm2'
| ID |
504223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cadm2
|
| Ensembl Gene |
ENSMUSG00000064115 |
| Gene Name |
cell adhesion molecule 2 |
| Synonyms |
SynCAM2, Necl3, A830029E02Rik, Igsf4d, 2900078E11Rik |
| MMRRC Submission |
044355-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.463)
|
| Stock # |
R6224 (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 66461281 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 392
(L392Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114292]
[ENSMUST00000120594]
[ENSMUST00000120898]
[ENSMUST00000128168]
|
| AlphaFold |
Q8BLQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114292
AA Change: L361Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: L361Q
| 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: L392Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: L392Q
| 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: L352Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: L352Q
| 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 damaging
Transcript: ENSMUST00000128168
AA Change: L392Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: L392Q
| 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: ENSMUST00000174502
|
| Meta Mutation Damage Score |
0.2405 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (55/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
C |
11: 99,728,840 (GRCm39) |
M1R |
probably null |
Het |
| 4930505A04Rik |
A |
C |
11: 30,404,815 (GRCm39) |
N29K |
probably benign |
Het |
| Adamtsl4 |
T |
C |
3: 95,589,039 (GRCm39) |
Y464C |
probably damaging |
Het |
| Asgr2 |
T |
C |
11: 69,989,072 (GRCm39) |
V172A |
probably damaging |
Het |
| Atad1 |
T |
C |
19: 32,676,028 (GRCm39) |
Y132C |
probably damaging |
Het |
| Bpifa6 |
G |
A |
2: 153,829,073 (GRCm39) |
R200H |
probably damaging |
Het |
| Brd1 |
A |
T |
15: 88,572,558 (GRCm39) |
M1171K |
possibly damaging |
Het |
| Ccdc183 |
C |
T |
2: 25,500,594 (GRCm39) |
E333K |
possibly damaging |
Het |
| Cenpe |
T |
C |
3: 134,949,536 (GRCm39) |
I1335T |
possibly damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,745,460 (GRCm39) |
N122D |
probably benign |
Het |
| Crls1 |
T |
A |
2: 132,691,770 (GRCm39) |
|
probably null |
Het |
| Cyp46a1 |
T |
C |
12: 108,327,819 (GRCm39) |
F460S |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dcps |
T |
A |
9: 35,047,777 (GRCm39) |
T128S |
probably benign |
Het |
| Dcun1d3 |
A |
T |
7: 119,458,714 (GRCm39) |
L107* |
probably null |
Het |
| Eml1 |
T |
C |
12: 108,480,767 (GRCm39) |
F397S |
probably damaging |
Het |
| Fanca |
T |
A |
8: 124,032,020 (GRCm39) |
H348L |
possibly damaging |
Het |
| Foxo1 |
T |
A |
3: 52,253,093 (GRCm39) |
S419T |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,899,730 (GRCm39) |
V1039A |
probably benign |
Het |
| Gng14 |
A |
T |
8: 85,794,220 (GRCm39) |
*73R |
probably null |
Het |
| Gp6 |
A |
T |
7: 4,397,211 (GRCm39) |
F75I |
probably benign |
Het |
| Gpha2 |
T |
A |
19: 6,277,142 (GRCm39) |
I81N |
possibly damaging |
Het |
| Gspt1 |
C |
A |
16: 11,042,406 (GRCm39) |
V493L |
probably benign |
Het |
| Igsf10 |
C |
A |
3: 59,232,931 (GRCm39) |
C1934F |
probably damaging |
Het |
| Irgm1 |
T |
C |
11: 48,757,713 (GRCm39) |
T49A |
probably benign |
Het |
| Klc4 |
A |
G |
17: 46,950,988 (GRCm39) |
I207T |
possibly damaging |
Het |
| Krt1 |
A |
T |
15: 101,758,702 (GRCm39) |
V154D |
possibly damaging |
Het |
| Lama1 |
T |
C |
17: 68,109,982 (GRCm39) |
V2201A |
possibly damaging |
Het |
| Lilrb4a |
T |
A |
10: 51,367,745 (GRCm39) |
Y96N |
probably damaging |
Het |
| Lrfn2 |
A |
G |
17: 49,403,379 (GRCm39) |
T501A |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,051,618 (GRCm39) |
I378T |
probably damaging |
Het |
| Mphosph8 |
T |
C |
14: 56,905,810 (GRCm39) |
M1T |
probably null |
Het |
| Nsd1 |
T |
C |
13: 55,460,945 (GRCm39) |
S2391P |
possibly damaging |
Het |
| Ogdhl |
G |
A |
14: 32,064,018 (GRCm39) |
G647D |
probably benign |
Het |
| Or5p57 |
T |
C |
7: 107,665,949 (GRCm39) |
I19V |
probably benign |
Het |
| Or6c76b |
A |
G |
10: 129,693,061 (GRCm39) |
K225E |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,772,068 (GRCm39) |
H387Q |
probably benign |
Het |
| Pdgfrb |
C |
A |
18: 61,215,011 (GRCm39) |
Y1013* |
probably null |
Het |
| Pitrm1 |
T |
C |
13: 6,615,090 (GRCm39) |
V562A |
probably damaging |
Het |
| Pnpla8 |
T |
C |
12: 44,329,811 (GRCm39) |
V121A |
possibly damaging |
Het |
| Psd4 |
T |
C |
2: 24,291,569 (GRCm39) |
L639P |
probably damaging |
Het |
| Psmc3 |
G |
T |
2: 90,884,975 (GRCm39) |
R47L |
probably damaging |
Het |
| Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
| Sesn2 |
A |
G |
4: 132,229,881 (GRCm39) |
V50A |
probably benign |
Het |
| Skic3 |
C |
T |
13: 76,266,410 (GRCm39) |
T219M |
probably benign |
Het |
| Slc6a16 |
G |
A |
7: 44,910,572 (GRCm39) |
G377S |
probably damaging |
Het |
| Slitrk1 |
A |
G |
14: 109,149,454 (GRCm39) |
F419S |
probably damaging |
Het |
| Slitrk5 |
GACTAC |
GACTACTAC |
14: 111,917,248 (GRCm39) |
|
probably benign |
Het |
| Spata31d1a |
T |
A |
13: 59,854,134 (GRCm39) |
|
probably benign |
Homo |
| Tgoln1 |
A |
T |
6: 72,592,984 (GRCm39) |
D165E |
possibly damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,821,266 (GRCm39) |
T492S |
probably benign |
Het |
| Zc3h13 |
T |
A |
14: 75,574,849 (GRCm39) |
M1565K |
probably damaging |
Het |
| Zcwpw1 |
T |
C |
5: 137,810,298 (GRCm39) |
V358A |
possibly damaging |
Het |
| Zfp607a |
A |
G |
7: 27,578,007 (GRCm39) |
H359R |
probably damaging |
Het |
| Zzef1 |
T |
A |
11: 72,746,209 (GRCm39) |
V837E |
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 |
|
|
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'- AGCACATCATTTGCCTTAAGGTAG -3'
(R):5'- CAGATATGTACTTCAGGAGACAGTAAC -3'
Sequencing Primer
(F):5'- TGAAATAACACTTATCATCACTTCCC -3'
(R):5'- CTTCAGGAGACAGTAACAGACTAGC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation