Incidental Mutation 'PIT4514001:Bcam'
ID 556269
Institutional Source Beutler Lab
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 # PIT4514001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 19490063-19504457 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 19497991 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 344 (V344A)
Ref Sequence ENSEMBL: ENSMUSP00000003061 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003061] [ENSMUST00000133427] [ENSMUST00000155244]
AlphaFold Q9R069
Predicted Effect probably benign
Transcript: ENSMUST00000003061
AA Change: V344A

PolyPhen 2 Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000003061
Gene: ENSMUSG00000002980
AA Change: V344A

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 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
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.6%
  • 10x: 84.2%
  • 20x: 70.3%
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
4930486L24Rik A G 13: 61,001,328 (GRCm39) probably null Het
Aadacl4fm2 T C 4: 144,282,081 (GRCm39) Y237C probably damaging Het
Abcc10 T A 17: 46,616,574 (GRCm39) I1247F probably benign Het
Acap3 G A 4: 155,987,835 (GRCm39) A524T probably benign Het
Adcy10 T A 1: 165,384,360 (GRCm39) N1040K probably benign Het
Adrb2 T C 18: 62,312,798 (GRCm39) D9G probably benign Het
Aldh1a7 T C 19: 20,679,604 (GRCm39) T391A probably benign Het
Birc7 T A 2: 180,573,099 (GRCm39) I172N possibly damaging Het
Cfap126 G A 1: 170,952,881 (GRCm39) D45N probably damaging Het
Cfap299 T A 5: 98,949,730 (GRCm39) H221Q probably benign Het
Cit G A 5: 116,135,913 (GRCm39) probably null Het
Col26a1 A G 5: 136,780,579 (GRCm39) V295A probably benign Het
Efcab15 T C 11: 103,091,960 (GRCm39) D27G probably benign Het
Epha7 C T 4: 28,961,355 (GRCm39) Q867* probably null Het
Fn1 A G 1: 71,667,615 (GRCm39) S793P probably benign Het
Foxb1 T A 9: 69,667,503 (GRCm39) Y9F probably damaging Het
Gpc1 T A 1: 92,785,279 (GRCm39) M406K probably benign Het
Gsg1 T C 6: 135,214,574 (GRCm39) T312A probably benign Het
Hmcn1 T A 1: 150,545,238 (GRCm39) I2790F possibly damaging Het
Kcnma1 C T 14: 23,359,103 (GRCm39) probably null Het
Lmntd1 AGACTGTAAGTTTCTCAAATGTGTACCTGGA AGA 6: 145,372,979 (GRCm39) probably null Het
Mcph1 A G 8: 18,681,906 (GRCm39) K348E probably damaging Het
Or10al6 T A 17: 38,082,758 (GRCm39) N71K probably damaging Het
Or8d4 T C 9: 40,038,595 (GRCm39) I221V probably damaging Het
Pik3cg T A 12: 32,254,902 (GRCm39) R362W probably damaging Het
Pkp3 T C 7: 140,669,623 (GRCm39) L765P probably damaging Het
Plxna2 A T 1: 194,477,245 (GRCm39) I1252F probably benign Het
Prpf8 T C 11: 75,387,181 (GRCm39) F1154S possibly damaging Het
Scn7a A G 2: 66,514,523 (GRCm39) F1084L probably damaging Het
Shmt1 G A 11: 60,695,173 (GRCm39) S47L probably damaging Het
Snap91 T C 9: 86,761,486 (GRCm39) K40R possibly damaging Het
Spag17 A T 3: 99,920,527 (GRCm39) T421S possibly damaging Het
Speer4f1 T A 5: 17,683,754 (GRCm39) N139K possibly damaging Het
Syne2 T G 12: 76,151,789 (GRCm39) N1883K probably damaging Het
Tgfb1i1 C T 7: 127,848,353 (GRCm39) R191C probably damaging Het
Tmem39b A C 4: 129,578,290 (GRCm39) N310K possibly damaging Het
Trim3 T C 7: 105,267,417 (GRCm39) T321A probably benign Het
Vmn2r124 T C 17: 18,293,974 (GRCm39) I687T probably benign Het
Zbtb8a T C 4: 129,251,523 (GRCm39) D316G probably benign Het
Zfp639 A G 3: 32,574,409 (GRCm39) I345V possibly damaging Het
Zfp764 T C 7: 127,003,913 (GRCm39) H406R 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
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
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
Predicted Primers PCR Primer
(F):5'- AAAACACTGGGGAGCACGTTC -3'
(R):5'- CAAGTATGACCCCTGACTCC -3'

Sequencing Primer
(F):5'- ACTGGGGAGCACGTTCTAAGC -3'
(R):5'- CCCAATTCCTAAGAACAGCTACTG -3'
Posted On 2019-06-07