Incidental Mutation 'IGL01433:Bcam'
ID 84238
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcam
Ensembl Gene ENSMUSG00000002980
Gene Name basal cell adhesion molecule
Synonyms B-CAM, 1200005K12Rik, Lu
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01433
Quality Score
Status
Chromosome 7
Chromosomal Location 19490063-19504457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 19494107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 395 (V395L)
Ref Sequence ENSEMBL: ENSMUSP00000003061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003061]
AlphaFold Q9R069
Predicted Effect possibly damaging
Transcript: ENSMUST00000003061
AA Change: V395L

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000003061
Gene: ENSMUSG00000002980
AA Change: V395L

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
IG 32 137 3.1e-9 SMART
IG_like 174 254 1.89e1 SMART
IGc2 275 337 2.58e-6 SMART
IGc2 369 425 2.16e-8 SMART
IG_like 458 523 7.29e-2 SMART
transmembrane domain 541 563 N/A INTRINSIC
low complexity region 601 619 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133271
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208280
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 Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: A gene trap insertion into an intron of this gene results in no obvious phenotype. Mice homozygous for a null allele exhibit glomeruli abnormalities and increased thickness and disorganization of intestinal smooth muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt3 C T 3: 30,652,188 (GRCm39) G302D probably damaging Het
Adam19 T C 11: 46,003,610 (GRCm39) L146P probably damaging Het
Adcy8 T A 15: 64,609,263 (GRCm39) Y852F possibly damaging Het
Arfgef1 T C 1: 10,223,657 (GRCm39) T1520A probably damaging Het
Atp8b1 C T 18: 64,706,590 (GRCm39) V199I probably benign Het
Avl9 A G 6: 56,730,382 (GRCm39) D575G probably damaging Het
Bltp1 T G 3: 36,941,919 (GRCm39) S241R probably damaging Het
Ccdc198 G T 14: 49,473,341 (GRCm39) T128K probably benign Het
Cgn T A 3: 94,686,769 (GRCm39) N178Y probably damaging Het
D5Ertd579e A T 5: 36,776,098 (GRCm39) D168E probably damaging Het
Dnah17 G T 11: 117,940,760 (GRCm39) T3288K probably damaging Het
Ednrb A T 14: 104,080,626 (GRCm39) I96N probably damaging Het
Gdpd3 A G 7: 126,370,356 (GRCm39) I264V possibly damaging Het
Itih4 T C 14: 30,617,405 (GRCm39) V575A probably benign Het
Jhy G A 9: 40,828,512 (GRCm39) R465C possibly damaging Het
Kcna4 C T 2: 107,127,078 (GRCm39) S604F probably damaging Het
Kcnj6 A G 16: 94,633,814 (GRCm39) V99A probably benign Het
Kdm2a A G 19: 4,392,888 (GRCm39) I489T possibly damaging Het
Kif13a A G 13: 46,926,384 (GRCm39) S241P probably damaging Het
Lax1 T C 1: 133,608,137 (GRCm39) I201M probably benign Het
Lzic T A 4: 149,572,604 (GRCm39) S65T probably benign Het
Marchf9 T C 10: 126,892,562 (GRCm39) T309A probably benign Het
Ndufc1 T C 3: 51,314,797 (GRCm39) K70E possibly damaging Het
Optn T C 2: 5,031,955 (GRCm39) K504R probably benign Het
Or51q1 A T 7: 103,628,539 (GRCm39) I53F probably damaging Het
Pagr1a A G 7: 126,614,647 (GRCm39) probably benign Het
Pold1 G A 7: 44,192,656 (GRCm39) probably benign Het
Ptprq A G 10: 107,412,741 (GRCm39) I1786T probably damaging Het
Rgs20 T C 1: 5,140,300 (GRCm39) D34G possibly damaging Het
Rnps1 T C 17: 24,643,519 (GRCm39) probably null Het
Rpgrip1 T C 14: 52,363,834 (GRCm39) V261A probably damaging Het
Sfxn1 A G 13: 54,247,935 (GRCm39) N220S probably benign Het
Slc35f1 T A 10: 52,949,542 (GRCm39) probably benign Het
Slc5a4b T C 10: 75,906,329 (GRCm39) probably benign Het
Snx19 A G 9: 30,340,067 (GRCm39) I402V possibly damaging Het
Spaca6 T C 17: 18,051,429 (GRCm39) V35A probably benign Het
Taar2 A G 10: 23,816,657 (GRCm39) T66A probably benign Het
Tanc2 C T 11: 105,701,348 (GRCm39) H288Y possibly damaging Het
Tbc1d31 A G 15: 57,804,164 (GRCm39) Q393R probably benign Het
Trpm1 A G 7: 63,854,276 (GRCm39) Y133C probably damaging Het
Vmn2r105 T C 17: 20,448,817 (GRCm39) D120G probably benign Het
Vmn2r56 C A 7: 12,449,541 (GRCm39) M232I probably benign Het
Vps35l A G 7: 118,373,274 (GRCm39) probably null Het
Zfp251 C T 15: 76,738,755 (GRCm39) V113I probably benign Het
Other mutations in Bcam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Bcam APN 7 19,490,724 (GRCm39) missense probably benign 0.02
IGL01712:Bcam APN 7 19,492,692 (GRCm39) missense probably damaging 0.99
IGL01943:Bcam APN 7 19,499,423 (GRCm39) missense probably damaging 1.00
IGL01946:Bcam APN 7 19,494,042 (GRCm39) nonsense probably null
IGL02281:Bcam APN 7 19,492,616 (GRCm39) missense probably damaging 1.00
IGL02714:Bcam APN 7 19,492,732 (GRCm39) splice site probably benign
IGL02837:Bcam UTSW 7 19,498,111 (GRCm39) missense probably damaging 1.00
PIT4514001:Bcam UTSW 7 19,497,991 (GRCm39) missense probably benign 0.06
R0063:Bcam UTSW 7 19,500,773 (GRCm39) missense probably benign 0.21
R0063:Bcam UTSW 7 19,500,773 (GRCm39) missense probably benign 0.21
R1500:Bcam UTSW 7 19,492,889 (GRCm39) missense possibly damaging 0.75
R1575:Bcam UTSW 7 19,494,307 (GRCm39) missense possibly damaging 0.87
R1585:Bcam UTSW 7 19,494,111 (GRCm39) missense probably damaging 1.00
R1768:Bcam UTSW 7 19,499,543 (GRCm39) missense probably null 1.00
R1813:Bcam UTSW 7 19,500,640 (GRCm39) missense probably damaging 1.00
R1896:Bcam UTSW 7 19,500,640 (GRCm39) missense probably damaging 1.00
R2016:Bcam UTSW 7 19,494,274 (GRCm39) missense probably benign 0.38
R2117:Bcam UTSW 7 19,492,352 (GRCm39) missense possibly damaging 0.71
R3713:Bcam UTSW 7 19,498,118 (GRCm39) missense probably benign 0.12
R3917:Bcam UTSW 7 19,499,375 (GRCm39) missense probably damaging 1.00
R4596:Bcam UTSW 7 19,498,082 (GRCm39) missense probably damaging 0.97
R4866:Bcam UTSW 7 19,499,397 (GRCm39) missense probably benign 0.00
R4874:Bcam UTSW 7 19,503,247 (GRCm39) intron probably benign
R5054:Bcam UTSW 7 19,490,785 (GRCm39) intron probably benign
R5062:Bcam UTSW 7 19,494,026 (GRCm39) missense possibly damaging 0.62
R6783:Bcam UTSW 7 19,500,806 (GRCm39) missense probably damaging 1.00
R6853:Bcam UTSW 7 19,494,331 (GRCm39) missense probably damaging 1.00
R7016:Bcam UTSW 7 19,492,368 (GRCm39) nonsense probably null
R7174:Bcam UTSW 7 19,499,376 (GRCm39) missense probably damaging 1.00
R7237:Bcam UTSW 7 19,503,232 (GRCm39) splice site probably null
R7733:Bcam UTSW 7 19,494,313 (GRCm39) missense probably benign 0.00
R7938:Bcam UTSW 7 19,490,738 (GRCm39) missense probably benign 0.08
R8474:Bcam UTSW 7 19,494,325 (GRCm39) nonsense probably null
R8514:Bcam UTSW 7 19,492,466 (GRCm39) missense probably damaging 1.00
R8880:Bcam UTSW 7 19,492,671 (GRCm39) missense probably damaging 1.00
Z1177:Bcam UTSW 7 19,494,032 (GRCm39) missense probably null 1.00
Posted On 2013-11-11