Incidental Mutation 'IGL03105:Cadm3'
ID 418910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cadm3
Ensembl Gene ENSMUSG00000005338
Gene Name cell adhesion molecule 3
Synonyms Necl-1, Tsll1, BIgR, SynCAM3, Igsf4b, Necl1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL03105
Quality Score
Status
Chromosome 1
Chromosomal Location 173161825-173195214 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 173172583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 174 (L174M)
Ref Sequence ENSEMBL: ENSMUSP00000005470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005470] [ENSMUST00000111220]
AlphaFold Q99N28
Predicted Effect probably damaging
Transcript: ENSMUST00000005470
AA Change: L174M

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000005470
Gene: ENSMUSG00000005338
AA Change: L174M

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 possibly damaging
Transcript: ENSMUST00000111220
AA Change: L140M

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106851
Gene: ENSMUSG00000005338
AA Change: L140M

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: ENSMUST00000126963
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136540
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157032
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A G 12: 112,599,155 (GRCm39) I129V probably benign Het
Ankrd35 A G 3: 96,591,373 (GRCm39) H553R probably benign Het
Brca2 A G 5: 150,483,950 (GRCm39) K2923R probably benign Het
Car10 T C 11: 92,991,101 (GRCm39) V17A probably benign Het
Cep290 A G 10: 100,387,686 (GRCm39) K1956E possibly damaging Het
Cfhr1 T A 1: 139,475,565 (GRCm39) probably benign Het
Crim1 A T 17: 78,623,179 (GRCm39) probably benign Het
Dedd G A 1: 171,168,486 (GRCm39) R224H probably damaging Het
F7 A T 8: 13,084,001 (GRCm39) I229L probably null Het
Igkv17-121 A T 6: 68,014,284 (GRCm39) Q112L probably damaging Het
Kcnk13 G A 12: 100,027,369 (GRCm39) R148Q probably damaging Het
Klk13 T C 7: 43,370,904 (GRCm39) L51P probably benign Het
Ldb2 A G 5: 44,956,715 (GRCm39) S41P possibly damaging Het
Magi2 A G 5: 20,748,616 (GRCm39) D767G probably damaging Het
Mical3 T C 6: 121,019,199 (GRCm39) T8A probably benign Het
Mkln1 G T 6: 31,435,994 (GRCm39) E318* probably null Het
Mx1 C T 16: 97,257,554 (GRCm39) V68I possibly damaging Het
Mylk2 T C 2: 152,759,279 (GRCm39) V350A possibly damaging Het
Nav2 T A 7: 49,114,627 (GRCm39) S870R probably damaging Het
Onecut2 A T 18: 64,474,579 (GRCm39) K358* probably null Het
Or51b4 A G 7: 103,531,339 (GRCm39) I37T possibly damaging Het
Or52n2c A T 7: 104,574,971 (GRCm39) probably benign Het
Or7a40 T C 16: 16,491,390 (GRCm39) T152A probably benign Het
Or7g16 T C 9: 18,726,685 (GRCm39) R302G probably benign Het
Orai3 A G 7: 127,372,725 (GRCm39) probably benign Het
Rad54b A G 4: 11,615,569 (GRCm39) N859S probably benign Het
Saxo4 A G 19: 10,454,384 (GRCm39) probably benign Het
Sec23b C T 2: 144,423,940 (GRCm39) R530W probably damaging Het
Slc25a35 T C 11: 68,859,496 (GRCm39) F3S probably damaging Het
Slc7a11 A T 3: 50,326,788 (GRCm39) I491K possibly damaging Het
Srrt A T 5: 137,298,106 (GRCm39) N317K possibly damaging Het
Sspo T C 6: 48,450,592 (GRCm39) probably benign Het
Taf2 A C 15: 54,909,195 (GRCm39) D683E probably benign Het
Tasor T A 14: 27,164,509 (GRCm39) C272S probably damaging Het
Tcerg1l G T 7: 137,850,173 (GRCm39) probably benign Het
Tg G T 15: 66,586,955 (GRCm39) V1578F probably benign Het
Tmem43 G A 6: 91,457,682 (GRCm39) G188D probably damaging Het
Tnfrsf8 T C 4: 145,025,354 (GRCm39) Y73C probably damaging Het
Ttc21a A G 9: 119,771,642 (GRCm39) Y147C probably benign Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Ttn T A 2: 76,642,521 (GRCm39) D11592V probably damaging Het
Tubgcp5 T A 7: 55,475,329 (GRCm39) I842N probably damaging Het
Unc80 A T 1: 66,511,258 (GRCm39) T89S probably damaging Het
Usp28 T C 9: 48,950,355 (GRCm39) M928T probably damaging Het
Usp43 A G 11: 67,770,802 (GRCm39) S611P possibly damaging Het
Utp20 A G 10: 88,626,958 (GRCm39) V1000A probably benign Het
Zfp263 T C 16: 3,566,824 (GRCm39) C380R probably damaging Het
Zfyve1 A C 12: 83,605,413 (GRCm39) C14G probably damaging Het
Other mutations in Cadm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01915:Cadm3 APN 1 173,168,675 (GRCm39) missense possibly damaging 0.66
IGL01989:Cadm3 APN 1 173,165,578 (GRCm39) unclassified probably benign
IGL02224:Cadm3 APN 1 173,165,628 (GRCm39) missense possibly damaging 0.51
R0243:Cadm3 UTSW 1 173,174,140 (GRCm39) unclassified probably benign
R0583:Cadm3 UTSW 1 173,168,738 (GRCm39) missense probably benign 0.00
R0689:Cadm3 UTSW 1 173,172,019 (GRCm39) missense possibly damaging 0.95
R2060:Cadm3 UTSW 1 173,171,969 (GRCm39) missense probably damaging 1.00
R2859:Cadm3 UTSW 1 173,174,112 (GRCm39) missense possibly damaging 0.90
R3764:Cadm3 UTSW 1 173,174,064 (GRCm39) missense probably damaging 1.00
R4077:Cadm3 UTSW 1 173,169,236 (GRCm39) missense probably benign 0.01
R4079:Cadm3 UTSW 1 173,169,236 (GRCm39) missense probably benign 0.01
R4521:Cadm3 UTSW 1 173,172,630 (GRCm39) splice site probably null
R4670:Cadm3 UTSW 1 173,174,013 (GRCm39) missense probably damaging 1.00
R4965:Cadm3 UTSW 1 173,164,664 (GRCm39) missense probably damaging 1.00
R5267:Cadm3 UTSW 1 173,164,669 (GRCm39) missense probably damaging 1.00
R6273:Cadm3 UTSW 1 173,176,691 (GRCm39) unclassified probably benign
R6315:Cadm3 UTSW 1 173,171,919 (GRCm39) missense probably benign 0.16
R6342:Cadm3 UTSW 1 173,168,675 (GRCm39) missense possibly damaging 0.66
R6544:Cadm3 UTSW 1 173,194,977 (GRCm39) critical splice donor site probably null
R6565:Cadm3 UTSW 1 173,169,276 (GRCm39) missense possibly damaging 0.81
R7813:Cadm3 UTSW 1 173,171,956 (GRCm39) missense probably benign 0.00
R8024:Cadm3 UTSW 1 173,165,622 (GRCm39) missense probably damaging 0.99
R8078:Cadm3 UTSW 1 173,168,626 (GRCm39) missense probably damaging 0.99
R8699:Cadm3 UTSW 1 173,168,683 (GRCm39) missense probably damaging 1.00
R9336:Cadm3 UTSW 1 173,168,786 (GRCm39) nonsense probably null
Posted On 2016-08-02