Incidental Mutation 'IGL02952:Cadm2'
ID364955
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cadm2
Ensembl Gene ENSMUSG00000064115
Gene Namecell adhesion molecule 2
SynonymsA830029E02Rik, Necl3, 2900078E11Rik, Igsf4d, SynCAM2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.550) question?
Stock #IGL02952
Quality Score
Status
Chromosome16
Chromosomal Location66655421-67620908 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 66664452 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 342 (I342K)
Ref Sequence ENSEMBL: ENSMUSP00000109931 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114292] [ENSMUST00000120594] [ENSMUST00000120898] [ENSMUST00000128168]
PDB Structure
Crystal structure of Ig1 domain of mouse SynCAM 2 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000114292
AA Change: I342K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: I342K

DomainStartEndE-ValueType
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: I373K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: I373K

DomainStartEndE-ValueType
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: I333K

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: I333K

DomainStartEndE-ValueType
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: I373K

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: I373K

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415F23Rik A T 1: 23,101,990 I81N probably damaging Het
A2m A T 6: 121,678,025 D1436V probably damaging Het
Abca7 G T 10: 80,007,408 R1239L probably damaging Het
Acp2 T C 2: 91,208,443 probably benign Het
Adamts4 A G 1: 171,251,348 N179S probably damaging Het
Adgrv1 T C 13: 81,433,636 D4763G probably benign Het
Atp11b T C 3: 35,828,695 V633A probably damaging Het
Capn10 T C 1: 92,945,174 S541P probably damaging Het
Ccnf A G 17: 24,231,325 L462P possibly damaging Het
Cdc27 T C 11: 104,517,464 Y546C probably damaging Het
Cep120 G T 18: 53,683,228 probably benign Het
Cetn2 T C X: 72,914,202 probably null Het
Cyp1a1 C T 9: 57,702,710 S469L probably benign Het
Dnah17 G A 11: 118,088,268 T1766I probably benign Het
Doc2g G A 19: 4,006,719 G345D possibly damaging Het
Dock4 T C 12: 40,710,903 probably null Het
Dopey1 T A 9: 86,532,922 probably benign Het
Emilin2 C A 17: 71,280,821 V99F probably damaging Het
Exoc8 A G 8: 124,897,536 S31P probably benign Het
Fam198b T C 3: 79,886,339 L38P probably damaging Het
Gm3115 T C 14: 4,084,302 probably benign Het
Gm9742 T A 13: 8,029,894 noncoding transcript Het
Gpr160 T C 3: 30,896,294 Y172H probably benign Het
Ifnk T A 4: 35,152,495 L141Q probably damaging Het
Klhl36 A G 8: 119,870,484 E308G probably benign Het
Lrp1b T C 2: 41,506,703 I450M probably benign Het
Noxa1 T C 2: 25,091,761 Y110C probably damaging Het
Olfr287 T C 15: 98,207,589 Y265C probably damaging Het
Pkd2 A T 5: 104,480,160 T367S possibly damaging Het
Polg2 T C 11: 106,772,713 I385V possibly damaging Het
Prr14l A G 5: 32,835,670 S17P unknown Het
Prss22 C A 17: 23,996,723 C75F probably damaging Het
Ptgs1 A G 2: 36,251,241 K567E probably benign Het
Ptprz1 A G 6: 23,036,926 I1141M probably damaging Het
R3hcc1l A G 19: 42,563,994 K477E probably damaging Het
Riok1 A G 13: 38,048,890 Y194C probably damaging Het
Smr2 T A 5: 88,088,236 C16S possibly damaging Het
Stk25 A T 1: 93,626,076 I187N probably damaging Het
Trhde T C 10: 114,800,573 E243G probably damaging Het
Vmn2r3 T C 3: 64,278,835 E143G probably damaging Het
Other mutations in Cadm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Cadm2 APN 16 66882751 missense probably damaging 1.00
IGL01137:Cadm2 APN 16 66815350 missense probably damaging 1.00
IGL01340:Cadm2 APN 16 66784785 missense possibly damaging 0.62
IGL01406:Cadm2 APN 16 66815304 splice site probably null
IGL02029:Cadm2 APN 16 66747296 missense probably damaging 1.00
IGL02541:Cadm2 APN 16 66882882 missense possibly damaging 0.73
IGL02541:Cadm2 APN 16 66882883 critical splice acceptor site probably null
R0050:Cadm2 UTSW 16 66953266 splice site probably benign
R0050:Cadm2 UTSW 16 66953266 splice site probably benign
R0399:Cadm2 UTSW 16 66747339 nonsense probably null
R0883:Cadm2 UTSW 16 66882814 missense probably damaging 1.00
R1035:Cadm2 UTSW 16 66815347 missense probably damaging 1.00
R1539:Cadm2 UTSW 16 66784840 missense probably damaging 1.00
R1889:Cadm2 UTSW 16 66882795 missense probably damaging 1.00
R1898:Cadm2 UTSW 16 66815383 missense probably damaging 1.00
R1918:Cadm2 UTSW 16 66747384 splice site probably benign
R2108:Cadm2 UTSW 16 66731471 missense probably benign 0.43
R2570:Cadm2 UTSW 16 66815383 missense probably damaging 1.00
R3878:Cadm2 UTSW 16 66815441 missense probably damaging 1.00
R4093:Cadm2 UTSW 16 66784788 missense possibly damaging 0.94
R4094:Cadm2 UTSW 16 66882797 missense probably damaging 1.00
R5421:Cadm2 UTSW 16 66771627 nonsense probably null
R5555:Cadm2 UTSW 16 66784815 missense probably damaging 1.00
R6173:Cadm2 UTSW 16 66882841 missense probably benign 0.04
R6188:Cadm2 UTSW 16 66815307 critical splice donor site probably null
R6224:Cadm2 UTSW 16 66664395 missense probably damaging 1.00
R6492:Cadm2 UTSW 16 66784828 missense probably damaging 0.98
R6957:Cadm2 UTSW 16 66812838 missense probably benign 0.02
R7051:Cadm2 UTSW 16 66882879 missense possibly damaging 0.86
R7183:Cadm2 UTSW 16 66882832 nonsense probably null
R7322:Cadm2 UTSW 16 66882846 missense probably damaging 1.00
R7792:Cadm2 UTSW 16 66771637 missense probably benign 0.01
X0026:Cadm2 UTSW 16 66663152 missense probably damaging 0.96
Posted On2015-12-18