Incidental Mutation 'IGL01943:Bcam'
ID 180936
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 # IGL01943
Quality Score
Status
Chromosome 7
Chromosomal Location 19490063-19504457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 19499423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 200 (R200H)
Ref Sequence ENSEMBL: ENSMUSP00000003061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003061] [ENSMUST00000133427] [ENSMUST00000155244]
AlphaFold Q9R069
Predicted Effect probably damaging
Transcript: ENSMUST00000003061
AA Change: R200H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003061
Gene: ENSMUSG00000002980
AA Change: R200H

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 probably benign
Transcript: ENSMUST00000133427
Predicted Effect probably benign
Transcript: ENSMUST00000155244
SMART Domains Protein: ENSMUSP00000121145
Gene: ENSMUSG00000002980

DomainStartEndE-ValueType
IG 32 137 3.1e-9 SMART
Pfam:C2-set_2 143 193 4.3e-12 PFAM
Pfam:Ig_2 145 192 1e-2 PFAM
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a A G 17: 35,315,459 (GRCm39) K169E probably benign Het
Ago4 A G 4: 126,410,988 (GRCm39) V167A probably damaging Het
Cblb G A 16: 51,959,996 (GRCm39) probably null Het
Cdc37 T C 9: 21,054,409 (GRCm39) E72G probably benign Het
Chek2 T A 5: 110,989,093 (GRCm39) probably benign Het
Col6a1 A T 10: 76,554,957 (GRCm39) probably null Het
Col7a1 A G 9: 108,813,084 (GRCm39) probably null Het
Ecpas A G 4: 58,849,937 (GRCm39) F429L possibly damaging Het
Fmo3 C T 1: 162,794,575 (GRCm39) R165H probably benign Het
Gm2663 C T 6: 40,973,010 (GRCm39) G199D probably damaging Het
Gm8108 T C 14: 4,127,217 (GRCm38) S134P probably damaging Het
Kif1b A T 4: 149,299,362 (GRCm39) probably null Het
Krt76 T A 15: 101,797,480 (GRCm39) D293V probably null Het
Lifr T A 15: 7,217,630 (GRCm39) C853S probably damaging Het
Muc5b A T 7: 141,415,234 (GRCm39) I2727F possibly damaging Het
Myo7a T C 7: 97,714,854 (GRCm39) K1606R possibly damaging Het
Noxred1 G T 12: 87,269,955 (GRCm39) Q259K probably benign Het
Obox3 C T 7: 15,360,777 (GRCm39) E121K probably benign Het
Or14j1 G A 17: 38,145,944 (GRCm39) R18H probably benign Het
Or1j19 T C 2: 36,677,095 (GRCm39) I186T probably benign Het
Or2y16 T A 11: 49,335,015 (GRCm39) C112* probably null Het
Or5b24 T C 19: 12,913,038 (GRCm39) L312S probably benign Het
Phf11 A T 14: 59,488,611 (GRCm39) V62E probably damaging Het
Pkd2l2 T C 18: 34,550,089 (GRCm39) F245L probably damaging Het
Pla2g6 T C 15: 79,197,316 (GRCm39) Q86R probably null Het
Polq T A 16: 36,881,805 (GRCm39) I1044K possibly damaging Het
Pomgnt2 G T 9: 121,811,536 (GRCm39) T415N probably benign Het
Pprc1 T A 19: 46,052,983 (GRCm39) probably benign Het
Prol1 T A 5: 88,475,820 (GRCm39) M70K probably benign Het
Ptpn22 T A 3: 103,793,652 (GRCm39) V601E probably benign Het
Slc16a3 T C 11: 120,847,709 (GRCm39) probably null Het
Slco1b2 A G 6: 141,622,012 (GRCm39) D489G possibly damaging Het
Sphk2 T C 7: 45,360,148 (GRCm39) probably benign Het
Stat4 C T 1: 52,136,014 (GRCm39) T441I possibly damaging Het
Tle1 A T 4: 72,040,639 (GRCm39) V647E probably damaging Het
Tnrc6b C A 15: 80,811,896 (GRCm39) Y814* probably null Het
Tubgcp3 A G 8: 12,704,301 (GRCm39) F256S probably damaging Het
Uqcrb A T 13: 67,050,827 (GRCm39) probably null Het
Vmn1r200 A T 13: 22,580,097 (GRCm39) E300V possibly damaging Het
Zfp324 C T 7: 12,702,713 (GRCm39) probably benign Het
Zxdc T C 6: 90,349,520 (GRCm39) probably benign Het
Other mutations in Bcam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Bcam APN 7 19,490,724 (GRCm39) missense probably benign 0.02
IGL01433:Bcam APN 7 19,494,107 (GRCm39) missense possibly damaging 0.75
IGL01712:Bcam APN 7 19,492,692 (GRCm39) missense probably damaging 0.99
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 2014-05-07