Mutagenetix > Incidental Mutation

Incidental Mutation 'R8880:Bcam'

676840

Institutional Source

Beutler Lab

Gene Symbol

Bcam

Ensembl Gene

ENSMUSG00000002980

Gene Name

basal cell adhesion molecule

Synonyms

B-CAM, 1200005K12Rik, Lu

MMRRC Submission

068748-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8880 (G1)

Quality Score

224.009

Status

Validated

Chromosome

Chromosomal Location

19490063-19504457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 19492671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 505 (V505M)

Ref Sequence

ENSEMBL: ENSMUSP00000003061 (fasta)

Gene Model

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

AlphaFold

Q9R069

Predicted Effect

probably damaging
Transcript: ENSMUST00000003061
AA Change: V505M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003061
Gene: ENSMUSG00000002980
AA Change: V505M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	T	14: 32,382,837 (GRCm39)	V1043I	probably benign	Het
5031439G07Rik	T	A	15: 84,839,867 (GRCm39)	I176F	possibly damaging	Het
Adam6b	T	A	12: 113,454,764 (GRCm39)	M527K	probably benign	Het
Atp10b	C	T	11: 43,106,811 (GRCm39)	T615I	probably benign	Het
Atxn2	A	G	5: 121,948,973 (GRCm39)	T1117A	probably benign	Het
AU021092	A	T	16: 5,032,585 (GRCm39)		probably benign	Het
Bco2	A	T	9: 50,461,962 (GRCm39)	L14Q	probably damaging	Het
Caps2	T	G	10: 112,030,824 (GRCm39)		probably benign	Het
Cblb	T	C	16: 51,986,368 (GRCm39)	V537A	probably benign	Het
Ccdc141	A	T	2: 76,845,556 (GRCm39)	N1170K	probably benign	Het
Ccdc154	T	G	17: 25,389,129 (GRCm39)	D442E	probably benign	Het
Col24a1	A	G	3: 145,019,798 (GRCm39)	I60V	probably null	Het
Crb1	A	T	1: 139,164,886 (GRCm39)	N1140K	probably benign	Het
Ddhd1	G	A	14: 45,846,430 (GRCm39)	P621S	probably benign	Het
Ddx46	A	T	13: 55,814,033 (GRCm39)	N663I	probably benign	Het
Dgki	C	T	6: 37,011,652 (GRCm39)		probably benign	Het
Disp2	T	C	2: 118,621,239 (GRCm39)	F657S	probably damaging	Het
Dnajc2	T	C	5: 21,973,670 (GRCm39)	E262G	probably damaging	Het
Dvl2	T	A	11: 69,898,761 (GRCm39)	L408Q	possibly damaging	Het
Egflam	T	C	15: 7,267,249 (GRCm39)	D712G	probably damaging	Het
Entpd7	A	G	19: 43,692,846 (GRCm39)		probably benign	Het
Epb41	A	T	4: 131,695,104 (GRCm39)	W28R		Het
Fabp9	C	T	3: 10,262,231 (GRCm39)		probably benign	Het
Fkbp15	T	A	4: 62,232,602 (GRCm39)	M657L	probably benign	Het
Gfy	A	C	7: 44,827,784 (GRCm39)	L104R	possibly damaging	Het
Gm4884	A	T	7: 40,693,911 (GRCm39)	I627F	probably damaging	Het
Gm9195	A	T	14: 72,691,320 (GRCm39)	S1643T	unknown	Het
Gpsm2	C	T	3: 108,610,335 (GRCm39)	A42T	possibly damaging	Het
Gvin2	T	C	7: 105,551,120 (GRCm39)	K644R	probably benign	Het
Gys2	T	C	6: 142,402,113 (GRCm39)	Y242C	probably damaging	Het
Hbs1l	A	G	10: 21,185,868 (GRCm39)	N430S	probably damaging	Het
Idh3b	A	T	2: 130,126,004 (GRCm39)		probably benign	Het
Igdcc3	C	T	9: 65,088,550 (GRCm39)	A384V	probably benign	Het
Ighv3-4	C	T	12: 114,217,535 (GRCm39)	D19N	possibly damaging	Het
Igkv19-93	G	T	6: 68,713,494 (GRCm39)	A45E	probably damaging	Het
Il10ra	G	A	9: 45,175,631 (GRCm39)	T230M	probably damaging	Het
Kalrn	A	G	16: 34,038,305 (GRCm39)	V1009A	probably damaging	Het
Kcnma1	G	T	14: 23,417,718 (GRCm39)	A837D	probably damaging	Het
Kif7	T	A	7: 79,348,650 (GRCm39)	R1231S	probably benign	Het
Klhdc1	A	G	12: 69,298,817 (GRCm39)	D134G	possibly damaging	Het
Klk14	T	C	7: 43,343,459 (GRCm39)	V97A	probably damaging	Het
Lamb3	G	A	1: 193,003,363 (GRCm39)	V101M	possibly damaging	Het
Lrrc7	C	T	3: 157,867,381 (GRCm39)	E787K	probably damaging	Het
Mep1a	A	G	17: 43,808,808 (GRCm39)	I94T	possibly damaging	Het
Mtrex	T	A	13: 113,051,034 (GRCm39)	K180N	probably benign	Het
Ncr1	C	T	7: 4,341,336 (GRCm39)	S109L	probably benign	Het
Nell2	A	T	15: 95,129,329 (GRCm39)	M678K	probably damaging	Het
Or12j5	C	A	7: 140,084,172 (GRCm39)	A67S	probably benign	Het
Or14c42-ps1	G	A	7: 86,211,549 (GRCm39)	C203Y	unknown	Het
Or2m13	A	T	16: 19,226,396 (GRCm39)	Y123*	probably null	Het
Or8g19	T	A	9: 39,055,899 (GRCm39)	F168I	probably damaging	Het
Pnpla1	A	C	17: 29,098,438 (GRCm39)	Y248S	probably damaging	Het
Pramel27	T	C	4: 143,573,140 (GRCm39)		probably null	Het
Prdm10	T	C	9: 31,264,742 (GRCm39)	F726L	probably damaging	Het
Prdm16	T	C	4: 154,613,370 (GRCm39)	N19S	probably damaging	Het
Prss44	A	G	9: 110,643,263 (GRCm39)	R53G	probably benign	Het
Rasgrp1	C	T	2: 117,115,425 (GRCm39)	R721Q	probably benign	Het
Rassf1	A	T	9: 107,434,740 (GRCm39)	N149I	probably damaging	Het
Rbp3	A	C	14: 33,678,796 (GRCm39)	T915P	probably benign	Het
Reg3g	A	T	6: 78,444,788 (GRCm39)	D63E	probably benign	Het
Relch	T	C	1: 105,592,220 (GRCm39)	Y130H	probably damaging	Het
Rgs3	C	A	4: 62,543,373 (GRCm39)	T236K	probably damaging	Het
Rin2	T	C	2: 145,690,772 (GRCm39)	F147L	probably damaging	Het
Slc17a1	T	C	13: 24,062,732 (GRCm39)	I266T	probably benign	Het
Slc34a3	A	T	2: 25,119,267 (GRCm39)	N534K	probably benign	Het
Smc2	A	T	4: 52,462,856 (GRCm39)	E615D	probably benign	Het
Snx16	A	C	3: 10,484,193 (GRCm39)	D343E	probably benign	Het
St18	T	A	1: 6,865,619 (GRCm39)	Y32*	probably null	Het
Svep1	C	T	4: 58,064,204 (GRCm39)	V3260I	possibly damaging	Het
Synm	C	T	7: 67,386,456 (GRCm39)	R402H	possibly damaging	Het
Tacc2	A	T	7: 130,318,564 (GRCm39)	E67V	possibly damaging	Het
Tarbp1	G	T	8: 127,198,044 (GRCm39)	N302K	probably damaging	Het
Tenm2	A	G	11: 35,942,788 (GRCm39)	S1294P	probably damaging	Het
Ttk	T	C	9: 83,751,304 (GRCm39)	S794P	probably damaging	Het
Ulk1	G	A	5: 110,934,288 (GRCm39)	A999V	probably damaging	Het
Upf2	A	G	2: 6,030,983 (GRCm39)	I808V	unknown	Het
Ush2a	A	G	1: 188,460,733 (GRCm39)	T2665A	probably benign	Het
Usp8	A	G	2: 126,590,229 (GRCm39)	K672E	probably damaging	Het
Vmn2r105	T	A	17: 20,429,229 (GRCm39)	I616F	probably damaging	Het
Vps33a	T	C	5: 123,707,506 (GRCm39)	M154V	probably damaging	Het
Wdfy4	A	C	14: 32,795,492 (GRCm39)	Y2083*	probably null	Het
Zc3hav1	A	G	6: 38,288,212 (GRCm39)	F875L	probably benign	Het
Zfp979	T	C	4: 147,697,836 (GRCm39)	N291S	probably benign	Het
Zp2	T	A	7: 119,742,835 (GRCm39)	Y99F	possibly damaging	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
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
Z1177:Bcam	UTSW	7	19,494,032 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGAGGGGCCACTGTAATG -3'
(R):5'- CTGTAAGGGGCTTTCCTTGC -3'

Sequencing Primer
(F):5'- GTACTCAGAACTAGATCAGGG -3'
(R):5'- TGAGCCCACCCCAAGTTC -3'

Posted On

2021-07-15