Incidental Mutation 'R1575:Bcam'
ID 171093
Institutional Source Beutler Lab
Gene Symbol Bcam
Ensembl Gene ENSMUSG00000002980
Gene Name basal cell adhesion molecule
Synonyms B-CAM, 1200005K12Rik, Lu
MMRRC Submission 039613-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1575 (G1)
Quality Score 221
Status Validated
Chromosome 7
Chromosomal Location 19490063-19504457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19494307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 363 (E363G)
Ref Sequence ENSEMBL: ENSMUSP00000003061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003061]
AlphaFold Q9R069
Predicted Effect possibly damaging
Transcript: ENSMUST00000003061
AA Change: E363G

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000003061
Gene: ENSMUSG00000002980
AA Change: E363G

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.5%
Validation Efficiency 100% (72/72)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl2 T A 3: 148,558,398 (GRCm39) T437S probably benign Het
Akna A G 4: 63,297,570 (GRCm39) F828S probably benign Het
Alg9 G T 9: 50,686,802 (GRCm39) A40S possibly damaging Het
Alox8 T A 11: 69,076,067 (GRCm39) H628L possibly damaging Het
Aox3 T C 1: 58,191,713 (GRCm39) W422R probably benign Het
Atp13a4 T C 16: 29,228,528 (GRCm39) D984G probably benign Het
Cadps2 C A 6: 23,429,217 (GRCm39) V519F probably damaging Het
Calca A G 7: 114,234,396 (GRCm39) Y18H probably damaging Het
Cd70 A G 17: 57,453,364 (GRCm39) I100T probably damaging Het
Cdk4 T A 10: 126,900,520 (GRCm39) H95Q probably damaging Het
Chchd1 T A 14: 20,753,410 (GRCm39) N11K probably damaging Het
Cma2 T A 14: 56,210,272 (GRCm39) N52K probably damaging Het
Cyp3a16 A G 5: 145,373,267 (GRCm39) V500A probably benign Het
Dicer1 A G 12: 104,688,228 (GRCm39) probably null Het
Dnajc13 A G 9: 104,034,037 (GRCm39) S2206P probably benign Het
Dtl T C 1: 191,293,658 (GRCm39) probably null Het
Fam186b T C 15: 99,184,852 (GRCm39) T24A probably benign Het
Fbxw21 A G 9: 108,990,984 (GRCm39) V25A probably benign Het
Gins1 T C 2: 150,754,758 (GRCm39) S45P probably benign Het
Gtpbp2 T A 17: 46,476,869 (GRCm39) V349D probably damaging Het
Hyal5 G T 6: 24,876,792 (GRCm39) D222Y probably damaging Het
Itgal A G 7: 126,900,060 (GRCm39) probably null Het
Klk14 A G 7: 43,343,377 (GRCm39) probably null Het
Lama1 T A 17: 68,117,404 (GRCm39) L2518Q possibly damaging Het
Lrrc2 G A 9: 110,808,555 (GRCm39) G264D probably benign Het
Ltbp4 A G 7: 27,022,245 (GRCm39) S893P probably damaging Het
Mast4 G A 13: 102,875,771 (GRCm39) P1107L probably damaging Het
Mbd1 T A 18: 74,408,490 (GRCm39) probably null Het
Naip2 A T 13: 100,291,529 (GRCm39) D1136E probably benign Het
Naip2 G A 13: 100,291,537 (GRCm39) probably benign Het
Ncan G A 8: 70,562,848 (GRCm39) T470I probably benign Het
Npy1r A T 8: 67,156,813 (GRCm39) I78F probably damaging Het
Or10q1b A T 19: 13,682,889 (GRCm39) M233L probably benign Het
Or8b52 G A 9: 38,576,573 (GRCm39) T189M probably damaging Het
Palb2 A T 7: 121,710,061 (GRCm39) probably null Het
Pax3 T C 1: 78,080,121 (GRCm39) T422A probably benign Het
Pebp1 A T 5: 117,424,229 (GRCm39) D72E possibly damaging Het
Pnliprp1 A T 19: 58,728,901 (GRCm39) T363S probably benign Het
Rbm44 G A 1: 91,084,565 (GRCm39) probably null Het
Rbm47 T A 5: 66,182,358 (GRCm39) Y425F probably benign Het
Robo3 G T 9: 37,340,957 (GRCm39) A83E probably damaging Het
Rrm1 A G 7: 102,105,721 (GRCm39) Y279C probably damaging Het
Rslcan18 A T 13: 67,256,121 (GRCm39) probably benign Het
Scara5 C A 14: 65,968,314 (GRCm39) Q196K probably benign Het
Setd1b C T 5: 123,301,210 (GRCm39) probably benign Het
Siah1a A G 8: 87,451,869 (GRCm39) F205S probably damaging Het
Smr2 AT ATT 5: 88,256,683 (GRCm39) probably null Het
Ssu72 A G 4: 155,815,814 (GRCm39) D86G probably benign Het
St7 G T 6: 17,886,110 (GRCm39) K357N probably damaging Het
Sv2b G A 7: 74,797,425 (GRCm39) T323I probably damaging Het
Syt1 T C 10: 108,340,361 (GRCm39) N319S probably benign Het
Tanc1 T A 2: 59,621,995 (GRCm39) F371L probably damaging Het
Tcf20 C A 15: 82,739,693 (GRCm39) G586V probably benign Het
Tg T C 15: 66,601,534 (GRCm39) probably null Het
Tyk2 A T 9: 21,026,758 (GRCm39) N620K probably benign Het
Ube2j1 T A 4: 33,045,116 (GRCm39) S130T probably benign Het
Ubr2 G T 17: 47,243,418 (GRCm39) P1696H probably damaging Het
Ubr5 A T 15: 38,041,085 (GRCm39) D266E probably damaging Het
Vipr2 A G 12: 116,107,892 (GRCm39) T426A probably benign Het
Vmn2r104 A T 17: 20,262,477 (GRCm39) W218R probably damaging Het
Vmn2r83 T A 10: 79,314,956 (GRCm39) N401K probably damaging Het
Vwf A G 6: 125,632,214 (GRCm39) E82G unknown Het
Vwf T A 6: 125,640,534 (GRCm39) Y2323* probably null Het
Wdr76 T G 2: 121,359,402 (GRCm39) V329G probably damaging Het
Zan A G 5: 137,460,214 (GRCm39) C1226R unknown Het
Zbtb16 G T 9: 48,743,572 (GRCm39) Q247K probably damaging Het
Zfp541 T C 7: 15,812,640 (GRCm39) V431A possibly damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- CCGTCTGCAAGGGTCACAGAATC -3'
(R):5'- TTGCTGGTCCAAGCCCGTCAAG -3'

Sequencing Primer
(F):5'- GAGGTAGAAAGGCAGGCG -3'
(R):5'- gtggagagatagaggcacag -3'
Posted On 2014-04-13