Mutagenetix > Incidental Mutation

Incidental Mutation 'R1575:Bcam'

171093

Institutional Source

Beutler Lab

Gene Symbol

Bcam

Ensembl Gene

ENSMUSG00000002980

Gene Name

basal cell adhesion molecule

Synonyms

1200005K12Rik, Lu, B-CAM

MMRRC Submission

039613-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1575 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

19756131-19771016 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19760382 bp (GRCm38)

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

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

noncoding transcript
Transcript: ENSMUST00000135632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208280

Meta Mutation Damage Score

0.1795

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	A	3: 148,852,762 (GRCm38)	T437S	probably benign	Het
Akna	A	G	4: 63,379,333 (GRCm38)	F828S	probably benign	Het
Alg9	G	T	9: 50,775,502 (GRCm38)	A40S	possibly damaging	Het
Alox8	T	A	11: 69,185,241 (GRCm38)	H628L	possibly damaging	Het
Aox3	T	C	1: 58,152,554 (GRCm38)	W422R	probably benign	Het
Atp13a4	T	C	16: 29,409,710 (GRCm38)	D984G	probably benign	Het
Cadps2	C	A	6: 23,429,218 (GRCm38)	V519F	probably damaging	Het
Calca	A	G	7: 114,635,161 (GRCm38)	Y18H	probably damaging	Het
Cd70	A	G	17: 57,146,364 (GRCm38)	I100T	probably damaging	Het
Cdk4	T	A	10: 127,064,651 (GRCm38)	H95Q	probably damaging	Het
Chchd1	T	A	14: 20,703,342 (GRCm38)	N11K	probably damaging	Het
Cma2	T	A	14: 55,972,815 (GRCm38)	N52K	probably damaging	Het
Cyp3a16	A	G	5: 145,436,457 (GRCm38)	V500A	probably benign	Het
Dicer1	A	G	12: 104,721,969 (GRCm38)		probably null	Het
Dnajc13	A	G	9: 104,156,838 (GRCm38)	S2206P	probably benign	Het
Dtl	T	C	1: 191,561,546 (GRCm38)		probably null	Het
Fam186b	T	C	15: 99,286,971 (GRCm38)	T24A	probably benign	Het
Fbxw21	A	G	9: 109,161,916 (GRCm38)	V25A	probably benign	Het
Gins1	T	C	2: 150,912,838 (GRCm38)	S45P	probably benign	Het
Gtpbp2	T	A	17: 46,165,943 (GRCm38)	V349D	probably damaging	Het
Hyal5	G	T	6: 24,876,793 (GRCm38)	D222Y	probably damaging	Het
Itgal	A	G	7: 127,300,888 (GRCm38)		probably null	Het
Klk14	A	G	7: 43,693,953 (GRCm38)		probably null	Het
Lama1	T	A	17: 67,810,409 (GRCm38)	L2518Q	possibly damaging	Het
Lrrc2	G	A	9: 110,979,487 (GRCm38)	G264D	probably benign	Het
Ltbp4	A	G	7: 27,322,820 (GRCm38)	S893P	probably damaging	Het
Mast4	G	A	13: 102,739,263 (GRCm38)	P1107L	probably damaging	Het
Mbd1	T	A	18: 74,275,419 (GRCm38)		probably null	Het
Naip2	A	T	13: 100,155,021 (GRCm38)	D1136E	probably benign	Het
Naip2	G	A	13: 100,155,029 (GRCm38)		probably benign	Het
Ncan	G	A	8: 70,110,198 (GRCm38)	T470I	probably benign	Het
Npy1r	A	T	8: 66,704,161 (GRCm38)	I78F	probably damaging	Het
Or10q1b	A	T	19: 13,705,525 (GRCm38)	M233L	probably benign	Het
Or8b52	G	A	9: 38,665,277 (GRCm38)	T189M	probably damaging	Het
Palb2	A	T	7: 122,110,838 (GRCm38)		probably null	Het
Pax3	T	C	1: 78,103,484 (GRCm38)	T422A	probably benign	Het
Pebp1	A	T	5: 117,286,164 (GRCm38)	D72E	possibly damaging	Het
Pnliprp1	A	T	19: 58,740,469 (GRCm38)	T363S	probably benign	Het
Rbm44	G	A	1: 91,156,843 (GRCm38)		probably null	Het
Rbm47	T	A	5: 66,025,015 (GRCm38)	Y425F	probably benign	Het
Robo3	G	T	9: 37,429,661 (GRCm38)	A83E	probably damaging	Het
Rrm1	A	G	7: 102,456,514 (GRCm38)	Y279C	probably damaging	Het
Rslcan18	A	T	13: 67,108,057 (GRCm38)		probably benign	Het
Scara5	C	A	14: 65,730,865 (GRCm38)	Q196K	probably benign	Het
Setd1b	C	T	5: 123,163,147 (GRCm38)		probably benign	Het
Siah1a	A	G	8: 86,725,241 (GRCm38)	F205S	probably damaging	Het
Smr2	AT	ATT	5: 88,108,824 (GRCm38)		probably null	Het
Ssu72	A	G	4: 155,731,357 (GRCm38)	D86G	probably benign	Het
St7	G	T	6: 17,886,111 (GRCm38)	K357N	probably damaging	Het
Sv2b	G	A	7: 75,147,677 (GRCm38)	T323I	probably damaging	Het
Syt1	T	C	10: 108,504,500 (GRCm38)	N319S	probably benign	Het
Tanc1	T	A	2: 59,791,651 (GRCm38)	F371L	probably damaging	Het
Tcf20	C	A	15: 82,855,492 (GRCm38)	G586V	probably benign	Het
Tg	T	C	15: 66,729,685 (GRCm38)		probably null	Het
Tyk2	A	T	9: 21,115,462 (GRCm38)	N620K	probably benign	Het
Ube2j1	T	A	4: 33,045,116 (GRCm38)	S130T	probably benign	Het
Ubr2	G	T	17: 46,932,492 (GRCm38)	P1696H	probably damaging	Het
Ubr5	A	T	15: 38,040,841 (GRCm38)	D266E	probably damaging	Het
Vipr2	A	G	12: 116,144,272 (GRCm38)	T426A	probably benign	Het
Vmn2r104	A	T	17: 20,042,215 (GRCm38)	W218R	probably damaging	Het
Vmn2r83	T	A	10: 79,479,122 (GRCm38)	N401K	probably damaging	Het
Vwf	T	A	6: 125,663,571 (GRCm38)	Y2323*	probably null	Het
Vwf	A	G	6: 125,655,251 (GRCm38)	E82G	unknown	Het
Wdr76	T	G	2: 121,528,921 (GRCm38)	V329G	probably damaging	Het
Zan	A	G	5: 137,461,952 (GRCm38)	C1226R	unknown	Het
Zbtb16	G	T	9: 48,832,272 (GRCm38)	Q247K	probably damaging	Het
Zfp541	T	C	7: 16,078,715 (GRCm38)	V431A	possibly damaging	Het

Other mutations in Bcam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Bcam	APN	7	19,756,799 (GRCm38)	missense	probably benign	0.02
IGL01433:Bcam	APN	7	19,760,182 (GRCm38)	missense	possibly damaging	0.75
IGL01712:Bcam	APN	7	19,758,767 (GRCm38)	missense	probably damaging	0.99
IGL01943:Bcam	APN	7	19,765,498 (GRCm38)	missense	probably damaging	1.00
IGL01946:Bcam	APN	7	19,760,117 (GRCm38)	nonsense	probably null
IGL02281:Bcam	APN	7	19,758,691 (GRCm38)	missense	probably damaging	1.00
IGL02714:Bcam	APN	7	19,758,807 (GRCm38)	splice site	probably benign
IGL02837:Bcam	UTSW	7	19,764,186 (GRCm38)	missense	probably damaging	1.00
PIT4514001:Bcam	UTSW	7	19,764,066 (GRCm38)	missense	probably benign	0.06
R0063:Bcam	UTSW	7	19,766,848 (GRCm38)	missense	probably benign	0.21
R0063:Bcam	UTSW	7	19,766,848 (GRCm38)	missense	probably benign	0.21
R1500:Bcam	UTSW	7	19,758,964 (GRCm38)	missense	possibly damaging	0.75
R1585:Bcam	UTSW	7	19,760,186 (GRCm38)	missense	probably damaging	1.00
R1768:Bcam	UTSW	7	19,765,618 (GRCm38)	missense	probably null	1.00
R1813:Bcam	UTSW	7	19,766,715 (GRCm38)	missense	probably damaging	1.00
R1896:Bcam	UTSW	7	19,766,715 (GRCm38)	missense	probably damaging	1.00
R2016:Bcam	UTSW	7	19,760,349 (GRCm38)	missense	probably benign	0.38
R2117:Bcam	UTSW	7	19,758,427 (GRCm38)	missense	possibly damaging	0.71
R3713:Bcam	UTSW	7	19,764,193 (GRCm38)	missense	probably benign	0.12
R3917:Bcam	UTSW	7	19,765,450 (GRCm38)	missense	probably damaging	1.00
R4596:Bcam	UTSW	7	19,764,157 (GRCm38)	missense	probably damaging	0.97
R4866:Bcam	UTSW	7	19,765,472 (GRCm38)	missense	probably benign	0.00
R4874:Bcam	UTSW	7	19,769,322 (GRCm38)	intron	probably benign
R5054:Bcam	UTSW	7	19,756,860 (GRCm38)	intron	probably benign
R5062:Bcam	UTSW	7	19,760,101 (GRCm38)	missense	possibly damaging	0.62
R6783:Bcam	UTSW	7	19,766,881 (GRCm38)	missense	probably damaging	1.00
R6853:Bcam	UTSW	7	19,760,406 (GRCm38)	missense	probably damaging	1.00
R7016:Bcam	UTSW	7	19,758,443 (GRCm38)	nonsense	probably null
R7174:Bcam	UTSW	7	19,765,451 (GRCm38)	missense	probably damaging	1.00
R7237:Bcam	UTSW	7	19,769,307 (GRCm38)	splice site	probably null
R7733:Bcam	UTSW	7	19,760,388 (GRCm38)	missense	probably benign	0.00
R7938:Bcam	UTSW	7	19,756,813 (GRCm38)	missense	probably benign	0.08
R8474:Bcam	UTSW	7	19,760,400 (GRCm38)	nonsense	probably null
R8514:Bcam	UTSW	7	19,758,541 (GRCm38)	missense	probably damaging	1.00
R8880:Bcam	UTSW	7	19,758,746 (GRCm38)	missense	probably damaging	1.00
Z1177:Bcam	UTSW	7	19,760,107 (GRCm38)	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