Mutagenetix > Incidental Mutation

Incidental Mutation 'R3917:Bcam'

307343

Institutional Source

Beutler Lab

Gene Symbol

Bcam

Ensembl Gene

ENSMUSG00000002980

Gene Name

basal cell adhesion molecule

Synonyms

B-CAM, 1200005K12Rik, Lu

MMRRC Submission

040914-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19490063-19504457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19499375 bp (GRCm39)

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]

AlphaFold

Q9R069

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: 121,737,277 (GRCm39)	V498A	probably damaging	Het
Adam19	A	G	11: 45,951,762 (GRCm39)	E37G	probably benign	Het
Apol11b	A	G	15: 77,519,504 (GRCm39)	I192T	probably benign	Het
Appl1	A	T	14: 26,650,561 (GRCm39)	F537Y	probably damaging	Het
Atad5	A	C	11: 79,994,120 (GRCm39)	K785N	probably null	Het
Atp1b2	A	G	11: 69,493,901 (GRCm39)	V93A	probably damaging	Het
Brca2	A	G	5: 150,464,292 (GRCm39)	E1352G	probably damaging	Het
C030005K15Rik	A	C	10: 97,561,453 (GRCm39)	S93A	unknown	Het
Cadps	C	T	14: 12,457,702 (GRCm38)	A1060T	probably benign	Het
Ccdc88c	A	G	12: 100,907,366 (GRCm39)		probably null	Het
Ccdc89	A	G	7: 90,076,033 (GRCm39)	D81G	probably damaging	Het
Ccnt1	A	G	15: 98,441,940 (GRCm39)	S443P	probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdc42bpa	T	C	1: 179,933,719 (GRCm39)		probably null	Het
Cdk11b	T	C	4: 155,711,258 (GRCm39)	S47P	probably damaging	Het
Cfap43	T	C	19: 47,886,189 (GRCm39)	D142G	probably benign	Het
Cntnap4	C	G	8: 113,602,165 (GRCm39)	P1190A	probably benign	Het
Colgalt2	T	A	1: 152,384,362 (GRCm39)	Y567*	probably null	Het
Dner	CGCTGCTGCTGCTGCTGCTGCTGCTGC	CGCTGCTGCTGCTGCTGCTGCTGC	1: 84,563,270 (GRCm39)		probably benign	Het
Dock7	T	C	4: 98,904,922 (GRCm39)	Y651C	probably damaging	Het
Fzd3	A	T	14: 65,473,379 (GRCm39)	F130I	probably damaging	Het
Gabarapl2	T	A	8: 112,679,028 (GRCm39)	F115L	probably benign	Het
Gm1043	G	A	5: 37,350,285 (GRCm39)		probably benign	Het
Gm12185	A	G	11: 48,806,760 (GRCm39)	F144L	probably benign	Het
Gm21961	A	T	15: 64,886,733 (GRCm39)	D7E	unknown	Het
Gtf3a	A	G	5: 146,892,244 (GRCm39)	K332E	probably benign	Het
Haao	A	G	17: 84,146,228 (GRCm39)		probably null	Het
Habp2	T	A	19: 56,299,611 (GRCm39)	C170S	probably damaging	Het
Heatr3	T	G	8: 88,876,999 (GRCm39)		probably null	Het
Herc1	T	G	9: 66,341,748 (GRCm39)	C1846G	possibly damaging	Het
Hivep3	T	C	4: 119,956,624 (GRCm39)	S1647P	probably benign	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hspg2	A	G	4: 137,286,625 (GRCm39)	E3648G	probably damaging	Het
Jaml	T	C	9: 45,012,449 (GRCm39)		probably benign	Het
Jund	C	T	8: 71,151,673 (GRCm39)		probably benign	Het
Klra14-ps	T	C	6: 130,134,595 (GRCm39)		noncoding transcript	Het
Krt88	G	A	15: 101,350,809 (GRCm39)		probably null	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Lyzl4	T	A	9: 121,412,101 (GRCm39)	D105V	probably damaging	Het
Mst1	A	G	9: 107,961,494 (GRCm39)	I575V	probably benign	Het
Myd88	T	C	9: 119,170,464 (GRCm39)		probably benign	Het
Myo1d	A	T	11: 80,557,404 (GRCm39)	V512E	probably damaging	Het
Ndufv1	A	G	19: 4,060,002 (GRCm39)	Y33H	probably damaging	Het
Nwd1	T	A	8: 73,394,439 (GRCm39)	C608*	probably null	Het
Or10al2	T	A	17: 37,983,684 (GRCm39)	F257I	probably damaging	Het
Or8b37	A	T	9: 37,958,841 (GRCm39)	I108F	probably damaging	Het
Patj	A	T	4: 98,480,245 (GRCm39)	K1317*	probably null	Het
Pld5	A	G	1: 175,791,504 (GRCm39)	S501P	probably benign	Het
Pnpo	A	G	11: 96,830,583 (GRCm39)	V146A	probably damaging	Het
Ppdpf	A	G	2: 180,829,521 (GRCm39)	Y16C	probably benign	Het
Ppp1r27	A	G	11: 120,441,785 (GRCm39)	V32A	possibly damaging	Het
Rbm28	T	C	6: 29,154,788 (GRCm39)	D294G	probably benign	Het
Sdk1	T	A	5: 142,036,999 (GRCm39)	D817E	probably damaging	Het
Shank3	A	G	15: 89,387,587 (GRCm39)	D252G	possibly damaging	Het
Slc29a1	A	T	17: 45,899,899 (GRCm39)		probably null	Het
Slc35a5	G	C	16: 44,978,521 (GRCm39)		probably benign	Het
Slc6a5	T	C	7: 49,561,617 (GRCm39)	S50P	probably damaging	Het
Slfn8	A	T	11: 82,907,819 (GRCm39)	Y241*	probably null	Het
Slu7	G	T	11: 43,331,511 (GRCm39)		probably null	Het
Smad2	T	A	18: 76,421,008 (GRCm39)	D82E	probably benign	Het
Spx	A	C	6: 142,359,757 (GRCm39)	E33A	probably damaging	Het
Tdp1	A	G	12: 99,860,976 (GRCm39)	Y205C	probably damaging	Het
Tekt1	A	G	11: 72,236,574 (GRCm39)	I296T	possibly damaging	Het
Tgm1	G	A	14: 55,950,214 (GRCm39)		probably benign	Het
Tnks	A	G	8: 35,320,515 (GRCm39)	S719P	probably damaging	Het
Trip6	A	G	5: 137,311,941 (GRCm39)	C47R	probably benign	Het
Trpv3	A	G	11: 73,174,560 (GRCm39)	D309G	possibly damaging	Het
Tti2	A	G	8: 31,643,547 (GRCm39)	K221E	possibly damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Vmn1r57	A	T	7: 5,223,630 (GRCm39)	N52Y	probably damaging	Het
Vmn2r94	A	G	17: 18,464,620 (GRCm39)	F557L	probably benign	Het
Zbed5	T	C	5: 129,931,118 (GRCm39)	Y356H	possibly damaging	Het
Zfp1005	T	A	2: 150,108,039 (GRCm39)		probably benign	Het
Zic4	C	A	9: 91,266,394 (GRCm39)		probably benign	Het

Other mutations in Bcam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GTAGAGTAAGGACCCCGATTGG -3'
(R):5'- TGGAAGTACCCATGGAGGTG -3'

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

Posted On

2015-04-17