Incidental Mutation 'R0583:Cadm3'
ID 56491
Institutional Source Beutler Lab
Gene Symbol Cadm3
Ensembl Gene ENSMUSG00000005338
Gene Name cell adhesion molecule 3
Synonyms Necl-1, Tsll1, BIgR, SynCAM3, Igsf4b, Necl1
MMRRC Submission 038773-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R0583 (G1)
Quality Score 142
Status Not validated
Chromosome 1
Chromosomal Location 173161825-173195214 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 173168738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 277 (T277P)
Ref Sequence ENSEMBL: ENSMUSP00000106851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005470] [ENSMUST00000111220]
AlphaFold Q99N28
Predicted Effect probably benign
Transcript: ENSMUST00000005470
AA Change: T311P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000005470
Gene: ENSMUSG00000005338
AA Change: T311P

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: ENSMUST00000111220
AA Change: T277P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106851
Gene: ENSMUSG00000005338
AA Change: T277P

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.1%
  • 20x: 93.2%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A G 9: 57,164,926 (GRCm39) S483P probably benign Het
5730480H06Rik A G 5: 48,537,470 (GRCm39) H169R probably damaging Het
Actn1 T A 12: 80,245,803 (GRCm39) I127F probably damaging Het
Cast T C 13: 74,861,797 (GRCm39) T629A probably damaging Het
Cblc C A 7: 19,526,486 (GRCm39) C201F probably benign Het
Ccdc154 T A 17: 25,387,398 (GRCm39) D375E possibly damaging Het
Cdk6 A G 5: 3,523,183 (GRCm39) D201G probably damaging Het
Cep95 T C 11: 106,705,449 (GRCm39) V478A probably benign Het
Ciita T C 16: 10,341,668 (GRCm39) probably null Het
Clec4e A G 6: 123,260,653 (GRCm39) F135S probably damaging Het
Cntn6 A G 6: 104,753,275 (GRCm39) D337G possibly damaging Het
Crlf3 A T 11: 79,950,107 (GRCm39) H174Q probably damaging Het
Cyb5r1 T A 1: 134,335,339 (GRCm39) F93I probably damaging Het
Dop1b T C 16: 93,552,374 (GRCm39) I271T probably benign Het
Duxf1 G A 10: 58,059,210 (GRCm39) L515F probably damaging Het
Fcho1 T C 8: 72,168,369 (GRCm39) Y218C probably damaging Het
Fhad1 C T 4: 141,631,301 (GRCm39) M1297I probably benign Het
Igdcc4 T C 9: 65,029,095 (GRCm39) V244A possibly damaging Het
Ikzf5 A G 7: 130,993,514 (GRCm39) probably null Het
Ilvbl T A 10: 78,419,101 (GRCm39) V450E probably damaging Het
Kcns3 T G 12: 11,141,479 (GRCm39) N407H probably damaging Het
Klhl11 T C 11: 100,355,150 (GRCm39) K224E possibly damaging Het
Klra17 T A 6: 129,845,656 (GRCm39) D186V probably damaging Het
Lrrc37a T C 11: 103,389,263 (GRCm39) D2054G probably benign Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Mrgbp A G 2: 180,226,239 (GRCm39) N104S probably benign Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Muc5ac C A 7: 141,361,345 (GRCm39) T1552N probably damaging Het
Muc5b T A 7: 141,410,435 (GRCm39) Y1269* probably null Het
Myef2 T C 2: 124,939,901 (GRCm39) probably null Het
Myg1 C T 15: 102,246,225 (GRCm39) Q367* probably null Het
Nalcn T C 14: 123,531,755 (GRCm39) N1365S possibly damaging Het
Nfu1 T C 6: 86,986,934 (GRCm39) C18R probably benign Het
Nkx2-6 A T 14: 69,412,228 (GRCm39) Q132L probably damaging Het
Or10a3b C T 7: 108,444,621 (GRCm39) A199T possibly damaging Het
Or8k38 T A 2: 86,488,704 (GRCm39) I33F probably benign Het
Pak3 TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC X: 142,526,889 (GRCm39) probably benign Het
Prh1 A T 6: 132,548,796 (GRCm39) Q101L unknown Het
Ribc2 A T 15: 85,017,115 (GRCm39) probably null Het
Rnf19a C A 15: 36,253,151 (GRCm39) R396L probably damaging Het
Sdad1 A G 5: 92,452,923 (GRCm39) I105T probably damaging Het
Sec24b G T 3: 129,834,960 (GRCm39) Y79* probably null Het
Tatdn2 A G 6: 113,679,486 (GRCm39) E277G possibly damaging Het
Tex10 A C 4: 48,451,952 (GRCm39) F725V probably damaging Het
Themis3 T C 17: 66,866,748 (GRCm39) D164G probably benign Het
Ubxn7 T C 16: 32,194,732 (GRCm39) W220R probably damaging Het
Usp33 C A 3: 152,073,891 (GRCm39) R246S probably damaging Het
Vmn2r102 T A 17: 19,897,043 (GRCm39) V130E probably benign Het
Vmn2r112 C T 17: 22,837,930 (GRCm39) P797L probably damaging Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Yme1l1 T C 2: 23,076,262 (GRCm39) V340A probably damaging Het
Zfta A G 19: 7,397,639 (GRCm39) D62G 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
IGL03105:Cadm3 APN 1 173,172,583 (GRCm39) missense probably damaging 0.96
R0243:Cadm3 UTSW 1 173,174,140 (GRCm39) unclassified probably benign
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
Predicted Primers PCR Primer
(F):5'- TGAGCATTGCTACACACTCCTTGG -3'
(R):5'- GTGCAGCTTCAGATTTCCCTGATCC -3'

Sequencing Primer
(F):5'- CCATACACAGTGAGAAGTTTGAC -3'
(R):5'- CAGATTTCCCTGATCCTAGCTC -3'
Posted On 2013-07-11