Incidental Mutation 'IGL01137:Cadm2'
ID52964
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: 0.574) question?
Stock #IGL01137
Quality Score
Status
Chromosome16
Chromosomal Location66655421-67620908 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 66815350 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 108 (T108I)
Ref Sequence ENSEMBL: ENSMUSP00000134554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114292] [ENSMUST00000120594] [ENSMUST00000120898] [ENSMUST00000123266] [ENSMUST00000128168]
Predicted Effect probably damaging
Transcript: ENSMUST00000114292
AA Change: T117I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109931
Gene: ENSMUSG00000064115
AA Change: T117I

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: T108I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113500
Gene: ENSMUSG00000064115
AA Change: T108I

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: T108I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113178
Gene: ENSMUSG00000064115
AA Change: T108I

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 benign
Transcript: ENSMUST00000123266
SMART Domains Protein: ENSMUSP00000123192
Gene: ENSMUSG00000064115

DomainStartEndE-ValueType
Blast:IG_like 19 53 1e-15 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000128168
AA Change: T108I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134554
Gene: ENSMUSG00000064115
AA Change: T108I

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: ENSMUST00000141282
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,394,611 probably null Het
Ankrd11 T C 8: 122,884,336 T2583A probably damaging Het
Anxa7 G A 14: 20,456,580 Q431* probably null Het
Asb15 T A 6: 24,556,522 D5E probably benign Het
Bex1 C A X: 136,214,494 D29Y probably damaging Het
Cecr2 T G 6: 120,762,028 L1211V probably damaging Het
Cntn2 T C 1: 132,521,297 probably benign Het
Ctrc C A 4: 141,838,754 V198L possibly damaging Het
Cyp2g1 A G 7: 26,814,259 S208G possibly damaging Het
Ddx46 T A 13: 55,669,717 Y718* probably null Het
Dlec1 T C 9: 119,137,311 I1116T probably damaging Het
Dnajc13 A G 9: 104,160,490 Y2177H probably benign Het
Dpp6 T C 5: 27,714,488 F661S probably damaging Het
Dpy19l2 G A 9: 24,658,562 T365I possibly damaging Het
Flot2 T C 11: 78,049,507 Y27H probably damaging Het
Gsta4 T C 9: 78,205,922 Y95H possibly damaging Het
Kir3dl1 A G X: 136,526,611 T192A probably damaging Het
Llgl1 T A 11: 60,709,999 N640K probably benign Het
Lrch1 C T 14: 74,757,092 V691M probably damaging Het
Myh9 T C 15: 77,769,542 D1302G probably benign Het
Myo18a T G 11: 77,827,829 F935V probably damaging Het
Mypn T C 10: 63,152,854 E464G probably benign Het
Olfr1085 A T 2: 86,657,711 I249N possibly damaging Het
Olfr1453 A T 19: 13,028,030 F100I possibly damaging Het
Olfr209 A C 16: 59,361,972 M82R probably benign Het
Olfr685 A G 7: 105,180,488 V290A probably benign Het
R3hdm1 C T 1: 128,181,875 R39C probably damaging Het
Rps3a3 A T 13: 108,671,132 probably benign Het
Sec24b C T 3: 130,007,444 S401N probably benign Het
Slc22a22 C A 15: 57,254,278 G289V probably damaging Het
Stk33 T C 7: 109,329,568 I246V probably benign Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Timmdc1 A T 16: 38,518,385 H114Q probably benign Het
Tlcd2 T C 11: 75,469,511 Y127H probably damaging Het
Tnfrsf11a G A 1: 105,809,422 D85N possibly damaging Het
Trbc2 T C 6: 41,547,817 probably benign Het
Unc13b G A 4: 43,091,291 R39H probably damaging Het
Vwa8 T C 14: 79,103,647 L1521P probably damaging Het
Zbtb17 T A 4: 141,466,367 C607* probably null Het
Other mutations in Cadm2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Cadm2 APN 16 66882751 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
IGL02952:Cadm2 APN 16 66664452 missense probably damaging 0.99
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
R7882:Cadm2 UTSW 16 66731471 missense probably benign 0.43
R7965:Cadm2 UTSW 16 66731471 missense probably benign 0.43
X0026:Cadm2 UTSW 16 66663152 missense probably damaging 0.96
Posted On2013-06-21