Mutagenetix > Incidental Mutations

Incidental Mutation 'R3917:Bcam'

307343

Institutional Source

Beutler Lab

Gene Symbol

Bcam

Ensembl Gene

ENSMUSG00000002980

Gene Name

basal cell adhesion molecule

Synonyms

1200005K12Rik, Lu, B-CAM

MMRRC Submission

040914-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19756131-19771016 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19765450 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 216 (Y216C)

Ref Sequence

ENSEMBL: ENSMUSP00000003061 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003061] [ENSMUST00000133427] [ENSMUST00000155244]

Predicted Effect

probably damaging
Transcript: ENSMUST00000003061
AA Change: Y216C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003061
Gene: ENSMUSG00000002980
AA Change: Y216C

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.6278

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

Validation Efficiency

97% (74/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	A	G	5: 121,599,214	V498A	probably damaging	Het
Adam19	A	G	11: 46,060,935	E37G	probably benign	Het
Apol11b	A	G	15: 77,635,304	I192T	probably benign	Het
Appl1	A	T	14: 26,928,604	F537Y	probably damaging	Het
Atad5	A	C	11: 80,103,294	K785N	probably null	Het
Atp1b2	A	G	11: 69,603,075	V93A	probably damaging	Het
Brca2	A	G	5: 150,540,827	E1352G	probably damaging	Het
C030005K15Rik	A	C	10: 97,725,591	S93A	unknown	Het
Cadps	C	T	14: 12,457,702	A1060T	probably benign	Het
Ccdc88c	A	G	12: 100,941,107		probably null	Het
Ccdc89	A	G	7: 90,426,825	D81G	probably damaging	Het
Ccnt1	A	G	15: 98,544,059	S443P	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdc42bpa	T	C	1: 180,106,154		probably null	Het
Cdk11b	T	C	4: 155,626,801	S47P	probably damaging	Het
Cfap43	T	C	19: 47,897,750	D142G	probably benign	Het
Cntnap4	C	G	8: 112,875,533	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,508,611	Y567*	probably null	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,585,549		probably benign	Het
Dock7	T	C	4: 99,016,685	Y651C	probably damaging	Het
Fzd3	A	T	14: 65,235,930	F130I	probably damaging	Het
Gabarapl2	T	A	8: 111,952,396	F115L	probably benign	Het
Gm1043	G	A	5: 37,192,941		probably benign	Het
Gm12185	A	G	11: 48,915,933	F144L	probably benign	Het
Gm14124	T	A	2: 150,266,119		probably benign	Het
Gm21961	A	T	15: 65,014,884	D7E	unknown	Het
Gtf3a	A	G	5: 146,955,434	K332E	probably benign	Het
Haao	A	G	17: 83,838,799		probably null	Het
Habp2	T	A	19: 56,311,179	C170S	probably damaging	Het
Heatr3	T	G	8: 88,150,371		probably null	Het
Herc1	T	G	9: 66,434,466	C1846G	possibly damaging	Het
Hivep3	T	C	4: 120,099,427	S1647P	probably benign	Het
Hnrnpul1	C	T	7: 25,726,875	R517Q	probably damaging	Het
Hspg2	A	G	4: 137,559,314	E3648G	probably damaging	Het
Jaml	T	C	9: 45,101,151		probably benign	Het
Jund	C	T	8: 70,699,023		probably benign	Het
Klra14-ps	T	C	6: 130,157,632		noncoding transcript	Het
Krt88	G	A	15: 101,452,928		probably null	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Lyzl4	T	A	9: 121,583,035	D105V	probably damaging	Het
Mst1	A	G	9: 108,084,295	I575V	probably benign	Het
Myd88	T	C	9: 119,341,398		probably benign	Het
Myo1d	A	T	11: 80,666,578	V512E	probably damaging	Het
Ndufv1	A	G	19: 4,010,002	Y33H	probably damaging	Het
Nwd1	T	A	8: 72,667,811	C608*	probably null	Het
Olfr118	T	A	17: 37,672,793	F257I	probably damaging	Het
Olfr884	A	T	9: 38,047,545	I108F	probably damaging	Het
Patj	A	T	4: 98,592,008	K1317*	probably null	Het
Pld5	A	G	1: 175,963,938	S501P	probably benign	Het
Pnpo	A	G	11: 96,939,757	V146A	probably damaging	Het
Ppdpf	A	G	2: 181,187,728	Y16C	probably benign	Het
Ppp1r27	A	G	11: 120,550,959	V32A	possibly damaging	Het
Rbm28	T	C	6: 29,154,789	D294G	probably benign	Het
Sdk1	T	A	5: 142,051,244	D817E	probably damaging	Het
Shank3	A	G	15: 89,503,384	D252G	possibly damaging	Het
Slc29a1	A	T	17: 45,588,973		probably null	Het
Slc35a5	G	C	16: 45,158,158		probably benign	Het
Slc6a5	T	C	7: 49,911,869	S50P	probably damaging	Het
Slfn8	A	T	11: 83,016,993	Y241*	probably null	Het
Slu7	G	T	11: 43,440,684		probably null	Het
Smad2	T	A	18: 76,287,937	D82E	probably benign	Het
Spx	A	C	6: 142,414,031	E33A	probably damaging	Het
Tdp1	A	G	12: 99,894,717	Y205C	probably damaging	Het
Tekt1	A	G	11: 72,345,748	I296T	possibly damaging	Het
Tgm1	G	A	14: 55,712,757		probably benign	Het
Tnks	A	G	8: 34,853,361	S719P	probably damaging	Het
Trip6	A	G	5: 137,313,679	C47R	probably benign	Het
Trpv3	A	G	11: 73,283,734	D309G	possibly damaging	Het
Tti2	A	G	8: 31,153,519	K221E	possibly damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn1r57	A	T	7: 5,220,631	N52Y	probably damaging	Het
Vmn2r94	A	G	17: 18,244,358	F557L	probably benign	Het
Zbed5	T	C	5: 129,902,277	Y356H	possibly damaging	Het
Zic4	C	A	9: 91,384,341		probably benign	Het

Other mutations in Bcam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Bcam	APN	7	19756799	missense	probably benign	0.02
IGL01433:Bcam	APN	7	19760182	missense	possibly damaging	0.75
IGL01712:Bcam	APN	7	19758767	missense	probably damaging	0.99
IGL01943:Bcam	APN	7	19765498	missense	probably damaging	1.00
IGL01946:Bcam	APN	7	19760117	nonsense	probably null
IGL02281:Bcam	APN	7	19758691	missense	probably damaging	1.00
IGL02714:Bcam	APN	7	19758807	splice site	probably benign
IGL02837:Bcam	UTSW	7	19764186	missense	probably damaging	1.00
PIT4514001:Bcam	UTSW	7	19764066	missense	probably benign	0.06
R0063:Bcam	UTSW	7	19766848	missense	probably benign	0.21
R0063:Bcam	UTSW	7	19766848	missense	probably benign	0.21
R1500:Bcam	UTSW	7	19758964	missense	possibly damaging	0.75
R1575:Bcam	UTSW	7	19760382	missense	possibly damaging	0.87
R1585:Bcam	UTSW	7	19760186	missense	probably damaging	1.00
R1768:Bcam	UTSW	7	19765618	missense	probably null	1.00
R1813:Bcam	UTSW	7	19766715	missense	probably damaging	1.00
R1896:Bcam	UTSW	7	19766715	missense	probably damaging	1.00
R2016:Bcam	UTSW	7	19760349	missense	probably benign	0.38
R2117:Bcam	UTSW	7	19758427	missense	possibly damaging	0.71
R3713:Bcam	UTSW	7	19764193	missense	probably benign	0.12
R4596:Bcam	UTSW	7	19764157	missense	probably damaging	0.97
R4866:Bcam	UTSW	7	19765472	missense	probably benign	0.00
R4874:Bcam	UTSW	7	19769322	intron	probably benign
R5054:Bcam	UTSW	7	19756860	intron	probably benign
R5062:Bcam	UTSW	7	19760101	missense	possibly damaging	0.62
R6783:Bcam	UTSW	7	19766881	missense	probably damaging	1.00
R6853:Bcam	UTSW	7	19760406	missense	probably damaging	1.00
R7016:Bcam	UTSW	7	19758443	nonsense	probably null
R7174:Bcam	UTSW	7	19765451	missense	probably damaging	1.00
R7237:Bcam	UTSW	7	19769307	intron	probably null
R7733:Bcam	UTSW	7	19760388	missense	probably benign	0.00
Z1177:Bcam	UTSW	7	19760107	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- GTAGAGTAAGGACCCCGATTGG -3'
(R):5'- TGGAAGTACCCATGGAGGTG -3'

Sequencing Primer
(F):5'- AATCGTGGTCTGGGAGTTCG -3'
(R):5'- TGAACCAAAGTGAGCCATCG -3'

Posted On

2015-04-17