Incidental Mutation 'IGL02408:Mcam'
ID292173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcam
Ensembl Gene ENSMUSG00000032135
Gene Namemelanoma cell adhesion molecule
SynonymsMuc18, CD146, s-gicerin, 1-gicerin, s-endo
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.377) question?
Stock #IGL02408
Quality Score
Status
Chromosome9
Chromosomal Location44134469-44142727 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44140250 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Aspartic acid at position 469 (N469D)
Ref Sequence ENSEMBL: ENSMUSP00000096451 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034650] [ENSMUST00000098852] [ENSMUST00000147836] [ENSMUST00000149241] [ENSMUST00000206147] [ENSMUST00000206720] [ENSMUST00000216002]
Predicted Effect probably benign
Transcript: ENSMUST00000034650
AA Change: N469D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000034650
Gene: ENSMUSG00000032135
AA Change: N469D

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG 35 135 6.61e-4 SMART
IG_like 155 213 4.22e-1 SMART
IG 259 343 8.13e-4 SMART
IGc2 358 416 3.4e-6 SMART
IG_like 445 508 1.92e0 SMART
low complexity region 511 525 N/A INTRINSIC
transmembrane domain 562 584 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098852
AA Change: N469D

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000096451
Gene: ENSMUSG00000032135
AA Change: N469D

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
IG 35 135 6.61e-4 SMART
IG_like 155 213 4.22e-1 SMART
IG 259 343 8.13e-4 SMART
IGc2 358 416 3.4e-6 SMART
IG_like 445 508 1.92e0 SMART
low complexity region 511 525 N/A INTRINSIC
transmembrane domain 562 584 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132490
Predicted Effect probably benign
Transcript: ENSMUST00000147836
SMART Domains Protein: ENSMUSP00000117924
Gene: ENSMUSG00000032135

DomainStartEndE-ValueType
Pfam:V-set 2 97 2.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149241
SMART Domains Protein: ENSMUSP00000121090
Gene: ENSMUSG00000032135

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 64 76 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206147
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206163
Predicted Effect probably benign
Transcript: ENSMUST00000206720
Predicted Effect probably benign
Transcript: ENSMUST00000216002
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a conditional allele activated in endothelial cells exhibit impaired VEGF-induced angiogenesis in Matrigel. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,644,171 Y278C probably damaging Het
Abcd2 A G 15: 91,178,241 L498P possibly damaging Het
Acot11 A G 4: 106,758,381 F271S probably damaging Het
Acr T A 15: 89,570,014 Y185N probably damaging Het
Adcy10 C T 1: 165,538,380 R489C probably damaging Het
Arsb A G 13: 93,794,162 T213A probably benign Het
Atg2a T A 19: 6,241,828 C11* probably null Het
B3galt6 A T 4: 155,991,695 Y308N probably damaging Het
Cd226 A G 18: 89,207,327 N116S probably benign Het
Crat T A 2: 30,407,134 D269V probably damaging Het
Crim1 T A 17: 78,315,654 I427N possibly damaging Het
Dock3 T C 9: 106,913,099 probably benign Het
Dsg1c T A 18: 20,274,719 V374E probably damaging Het
Dtl A G 1: 191,541,240 S519P probably benign Het
Fastkd1 C T 2: 69,702,601 R474H probably benign Het
Fbxo10 T C 4: 45,058,361 T459A possibly damaging Het
Frmd4b A G 6: 97,295,809 L828P probably damaging Het
Gc T C 5: 89,445,396 S55G probably benign Het
Gm6455 T G 5: 10,867,290 noncoding transcript Het
Gnai2 T C 9: 107,616,194 T280A probably benign Het
Hmgn2 A G 4: 133,965,949 probably null Het
Jmjd1c G T 10: 67,226,382 A1505S probably benign Het
Lrriq1 T C 10: 103,146,281 K1393E probably benign Het
Mrpl47 A G 3: 32,736,640 probably null Het
Mslnl C T 17: 25,747,998 A659V possibly damaging Het
Nlrp1a A G 11: 71,122,630 V598A probably benign Het
Npff A T 15: 102,524,565 L15Q probably null Het
Obsl1 G T 1: 75,505,246 Q327K probably damaging Het
Olfr46 T C 7: 140,610,931 V255A probably damaging Het
Olfr48 T A 2: 89,844,971 M1L probably benign Het
Olfr58 A T 9: 19,783,415 Y94F probably benign Het
Olfr591 T C 7: 103,173,451 Y62C probably damaging Het
Olfr914 G A 9: 38,607,121 G219S possibly damaging Het
Pdzd2 T A 15: 12,375,765 H1428L probably benign Het
Phldb1 T C 9: 44,715,906 E414G possibly damaging Het
Reln T C 5: 21,901,619 D3251G probably benign Het
Secisbp2l G T 2: 125,740,869 S889* probably null Het
Setx T A 2: 29,133,930 C133S probably damaging Het
Slc22a29 A C 19: 8,207,285 S214A probably benign Het
Slc30a5 A C 13: 100,813,724 L285R probably damaging Het
Taar7a T G 10: 23,992,602 I294L probably benign Het
Tfap2b T A 1: 19,234,261 F414I probably damaging Het
Trpc4ap A T 2: 155,671,069 Y129N possibly damaging Het
Vmn2r94 T C 17: 18,253,261 E501G probably benign Het
Xpot T C 10: 121,603,165 H709R probably damaging Het
Zfhx3 T A 8: 108,955,372 probably benign Het
Zscan22 T G 7: 12,906,499 H223Q probably benign Het
Other mutations in Mcam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02671:Mcam APN 9 44137034 splice site probably benign
IGL02682:Mcam APN 9 44140417 missense possibly damaging 0.80
IGL03384:Mcam APN 9 44140512 unclassified probably benign
R0238:Mcam UTSW 9 44140205 unclassified probably null
R0238:Mcam UTSW 9 44140205 unclassified probably null
R0320:Mcam UTSW 9 44140186 missense possibly damaging 0.89
R1432:Mcam UTSW 9 44141291 missense probably damaging 0.98
R1485:Mcam UTSW 9 44136763 missense probably damaging 1.00
R1503:Mcam UTSW 9 44141291 missense probably damaging 0.98
R1730:Mcam UTSW 9 44134706 missense probably damaging 1.00
R1783:Mcam UTSW 9 44134706 missense probably damaging 1.00
R2146:Mcam UTSW 9 44136635 missense probably damaging 0.99
R2150:Mcam UTSW 9 44136635 missense probably damaging 0.99
R2215:Mcam UTSW 9 44139953 nonsense probably null
R4366:Mcam UTSW 9 44134697 missense probably damaging 1.00
R4519:Mcam UTSW 9 44141343 missense possibly damaging 0.95
R4948:Mcam UTSW 9 44136566 missense probably damaging 1.00
R5965:Mcam UTSW 9 44136628 missense probably damaging 1.00
R6704:Mcam UTSW 9 44136920 missense probably benign 0.06
R6955:Mcam UTSW 9 44139269 missense probably damaging 1.00
Posted On2015-04-16