Incidental Mutation 'IGL02224:Cadm3'
ID285271
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cadm3
Ensembl Gene ENSMUSG00000005338
Gene Namecell adhesion molecule 3
SynonymsSynCAM3, Tsll1, Igsf4b, BIgR, Necl-1, Necl1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock #IGL02224
Quality Score
Status
Chromosome1
Chromosomal Location173333258-173367695 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 173338061 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 344 (I344T)
Ref Sequence ENSEMBL: ENSMUSP00000106851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005470] [ENSMUST00000038227] [ENSMUST00000111220] [ENSMUST00000194046]
Predicted Effect possibly damaging
Transcript: ENSMUST00000005470
AA Change: I378T

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000005470
Gene: ENSMUSG00000005338
AA Change: I378T

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 67 159 1.43e-8 SMART
IG 169 262 6.31e-1 SMART
IGc2 277 338 3.91e-6 SMART
low complexity region 351 359 N/A INTRINSIC
4.1m 383 401 9.24e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000038227
SMART Domains Protein: ENSMUSP00000045134
Gene: ENSMUSG00000037872

DomainStartEndE-ValueType
SCOP:d1l9ha_ 26 317 1e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000111220
AA Change: I344T

PolyPhen 2 Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000106851
Gene: ENSMUSG00000005338
AA Change: I344T

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
IG 33 125 1.43e-8 SMART
IG 135 228 6.31e-1 SMART
IGc2 243 304 3.91e-6 SMART
low complexity region 317 325 N/A INTRINSIC
4.1m 349 367 9.24e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157032
Predicted Effect probably benign
Transcript: ENSMUST00000194046
SMART Domains Protein: ENSMUSP00000141765
Gene: ENSMUSG00000037872

DomainStartEndE-ValueType
transmembrane domain 59 81 N/A INTRINSIC
transmembrane domain 96 118 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194298
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a calcium-independent cell-cell adhesion protein that can form homodimers or heterodimers with other nectin proteins. The encoded protein has both homophilic and heterophilic cell-cell adhesion activity. This gene is reported to be a tumor suppressor gene. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a null allele exhibit delayed myelination. Other mice with ubiquitous conditional deletion of the gene do not display neurological abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T A 13: 4,279,290 T23S probably damaging Het
Alpk3 G A 7: 81,076,868 probably benign Het
Atp8b3 A G 10: 80,525,976 probably benign Het
Atr C T 9: 95,878,629 R1051C probably damaging Het
B4galt2 T C 4: 117,876,913 D309G probably benign Het
C130026L21Rik A G 5: 111,582,425 noncoding transcript Het
Cd101 T C 3: 101,017,002 T370A probably benign Het
Col6a5 A T 9: 105,864,335 S2462T probably damaging Het
Csf3r A T 4: 126,043,539 N739Y probably benign Het
Ensa T C 3: 95,628,679 S108P probably benign Het
Fancd2 T A 6: 113,568,320 probably null Het
Fbp1 T A 13: 62,888,007 T13S probably damaging Het
Flrt2 C A 12: 95,780,028 T380K possibly damaging Het
Gpatch11 T C 17: 78,841,093 probably benign Het
Hagh A G 17: 24,852,887 D29G probably damaging Het
Hmmr T C 11: 40,710,004 Q513R unknown Het
Hoxb8 T C 11: 96,283,155 S65P probably benign Het
Il4ra T C 7: 125,570,099 probably benign Het
Lbp A G 2: 158,306,749 N27S probably damaging Het
Msh4 G A 3: 153,890,185 T76I possibly damaging Het
Nfat5 T C 8: 107,344,815 V281A probably benign Het
Olfr1115 C T 2: 87,252,477 S180F probably benign Het
Olfr1140 T A 2: 87,746,413 C72* probably null Het
Olfr1181 C T 2: 88,423,708 probably null Het
Olfr1459 T A 19: 13,145,756 K301M probably damaging Het
Olfr272 A T 4: 52,911,392 V134D probably damaging Het
Phf11b A T 14: 59,326,066 probably benign Het
Pik3c2a A G 7: 116,363,340 probably benign Het
Prdx1 T A 4: 116,691,867 F66L probably damaging Het
Prss39 A G 1: 34,499,378 H108R probably damaging Het
Spta1 C A 1: 174,217,689 probably benign Het
Tmem87b A G 2: 128,834,207 I297V possibly damaging Het
Vmn1r191 T C 13: 22,178,898 R229G probably damaging Het
Vmn2r113 A T 17: 22,955,986 R524* probably null Het
Washc2 T A 6: 116,220,569 D254E possibly damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Zfp773 T C 7: 7,132,976 H207R probably benign Het
Other mutations in Cadm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01915:Cadm3 APN 1 173341108 missense possibly damaging 0.66
IGL01989:Cadm3 APN 1 173338011 unclassified probably benign
IGL03105:Cadm3 APN 1 173345016 missense probably damaging 0.96
R0243:Cadm3 UTSW 1 173346573 unclassified probably benign
R0583:Cadm3 UTSW 1 173341171 missense probably benign 0.00
R0689:Cadm3 UTSW 1 173344452 missense possibly damaging 0.95
R2060:Cadm3 UTSW 1 173344402 missense probably damaging 1.00
R2859:Cadm3 UTSW 1 173346545 missense possibly damaging 0.90
R3764:Cadm3 UTSW 1 173346497 missense probably damaging 1.00
R4077:Cadm3 UTSW 1 173341669 missense probably benign 0.01
R4079:Cadm3 UTSW 1 173341669 missense probably benign 0.01
R4521:Cadm3 UTSW 1 173345063 splice site probably null
R4670:Cadm3 UTSW 1 173346446 missense probably damaging 1.00
R4965:Cadm3 UTSW 1 173337097 missense probably damaging 1.00
R5267:Cadm3 UTSW 1 173337102 missense probably damaging 1.00
R6273:Cadm3 UTSW 1 173349124 unclassified probably benign
R6315:Cadm3 UTSW 1 173344352 missense probably benign 0.16
R6342:Cadm3 UTSW 1 173341108 missense possibly damaging 0.66
R6544:Cadm3 UTSW 1 173367411 critical splice donor site probably null
R6565:Cadm3 UTSW 1 173341709 missense possibly damaging 0.81
R7813:Cadm3 UTSW 1 173344389 missense probably benign 0.00
R8024:Cadm3 UTSW 1 173338055 missense probably damaging 0.99
Posted On2015-04-16