Mutagenetix > Incidental Mutation

Incidental Mutation 'R7174:Bcam'

558490

Institutional Source

Beutler Lab

Gene Symbol

Bcam

Ensembl Gene

ENSMUSG00000002980

Gene Name

basal cell adhesion molecule

Synonyms

B-CAM, 1200005K12Rik, Lu

MMRRC Submission

045266-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7174 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

19490063-19504457 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19499376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 216 (Y216H)

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: Y216H

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

SMART Domains

Protein: ENSMUSP00000003061
Gene: ENSMUSG00000002980
AA Change: Y216H

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

97% (61/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	A	5: 144,981,627 (GRCm39)	A154E	probably benign	Het
Adamts1	C	A	16: 85,596,060 (GRCm39)	A419S	probably benign	Het
Arap2	C	G	5: 62,761,621 (GRCm39)	V1702L	probably benign	Het
Arpc1a	C	T	5: 145,034,087 (GRCm39)	P152S	probably benign	Het
Bbs10	T	A	10: 111,136,628 (GRCm39)	C580*	probably null	Het
C2cd3	T	C	7: 100,081,405 (GRCm39)	S1016P		Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Ceacam5	T	A	7: 17,491,839 (GRCm39)		probably null	Het
Cfap57	A	G	4: 118,446,264 (GRCm39)	V666A	probably benign	Het
Cntn3	A	G	6: 102,142,305 (GRCm39)	F1021L	probably benign	Het
Cr1l	C	T	1: 194,811,497 (GRCm39)	G119D	probably benign	Het
Fgf10	A	T	13: 118,851,942 (GRCm39)	H8L	probably benign	Het
Fras1	T	A	5: 96,903,436 (GRCm39)		probably null	Het
Frem1	G	T	4: 82,840,493 (GRCm39)	T1811N	probably benign	Het
Fsd1	A	T	17: 56,298,356 (GRCm39)	Q227L	probably benign	Het
Galk2	A	G	2: 125,738,621 (GRCm39)	I138M	probably damaging	Het
Igkv8-30	A	G	6: 70,094,582 (GRCm39)	V7A	possibly damaging	Het
Katnb1	G	A	8: 95,824,069 (GRCm39)	A450T	probably benign	Het
Kif14	A	T	1: 136,448,995 (GRCm39)	E1465V	possibly damaging	Het
Klra3	A	T	6: 130,312,941 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lepr	A	G	4: 101,607,535 (GRCm39)	N251S	probably benign	Het
Lrp2	T	C	2: 69,263,416 (GRCm39)	M4379V	probably benign	Het
Lrriq1	T	C	10: 103,060,826 (GRCm39)	N92S	probably benign	Het
Map3k13	A	G	16: 21,745,006 (GRCm39)	N855S	probably damaging	Het
Marf1	T	A	16: 13,954,817 (GRCm39)	D900V	probably damaging	Het
Nckap5l	A	T	15: 99,321,884 (GRCm39)	M1087K	probably benign	Het
Nlrp9c	T	C	7: 26,084,722 (GRCm39)	N286D	probably benign	Het
Or12j4	T	C	7: 140,047,076 (GRCm39)	*321Q	probably null	Het
Or13c7d	C	T	4: 43,770,691 (GRCm39)	A107T	not run	Het
Or4k2	T	C	14: 50,424,153 (GRCm39)	I175V	probably benign	Het
Or51ah3	A	T	7: 103,210,598 (GRCm39)	R305*	probably null	Het
Or5g9	C	T	2: 85,552,297 (GRCm39)	P183S	possibly damaging	Het
Or5p72	T	A	7: 108,022,367 (GRCm39)	S196R	probably benign	Het
Pcdhga3	A	G	18: 37,808,980 (GRCm39)	T478A	probably benign	Het
Pdgfrb	T	C	18: 61,199,587 (GRCm39)	I385T	probably benign	Het
Poteg	C	T	8: 27,943,305 (GRCm39)	R192W	probably benign	Het
Prmt2	G	T	10: 76,061,173 (GRCm39)	D104E	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rlbp1	T	C	7: 79,027,090 (GRCm39)	N190S	possibly damaging	Het
Ryr2	T	C	13: 11,816,063 (GRCm39)	D641G	possibly damaging	Het
Sh3gl1	A	T	17: 56,324,846 (GRCm39)	M303K	probably benign	Het
Slc26a5	A	G	5: 22,018,892 (GRCm39)	V649A	probably damaging	Het
Slco4c1	T	C	1: 96,765,323 (GRCm39)	N376D	possibly damaging	Het
Socs3	A	T	11: 117,858,553 (GRCm39)	Y168*	probably null	Het
Spata31d1d	A	T	13: 59,876,394 (GRCm39)	N380K	possibly damaging	Het
Speer1c	T	C	5: 10,295,237 (GRCm39)	K56E	probably damaging	Het
Ssbp3	A	G	4: 106,894,843 (GRCm39)	N254S	probably benign	Het
Stard10	C	T	7: 100,995,226 (GRCm39)	S326L	probably damaging	Het
Taf2	T	C	15: 54,912,135 (GRCm39)	D524G	possibly damaging	Het
Taf7	A	T	18: 37,776,053 (GRCm39)	S171R	probably damaging	Het
Tchh	C	T	3: 93,353,478 (GRCm39)	R973C	unknown	Het
Tmem67	T	C	4: 12,077,337 (GRCm39)	R172G	possibly damaging	Het
Top2a	C	A	11: 98,914,922 (GRCm39)		probably benign	Het
Ttc8	T	A	12: 98,940,960 (GRCm39)	N323K	possibly damaging	Het
Txnl1	T	C	18: 63,804,667 (GRCm39)	N276D	probably benign	Het
Usp24	T	G	4: 106,219,878 (GRCm39)		probably null	Het
Vmn1r18	A	C	6: 57,366,609 (GRCm39)		probably null	Het
Vmn2r53	A	T	7: 12,315,628 (GRCm39)	H730Q	probably benign	Het
Wnk1	A	C	6: 119,947,939 (GRCm39)	I500M	probably damaging	Het
Zfp335	A	T	2: 164,744,423 (GRCm39)	Y451N	probably damaging	Het
Zfp683	T	A	4: 133,783,064 (GRCm39)	I176N	probably 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
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'- TAGAGTAAGGACCCCGATTGG -3'
(R):5'- TCTGGAAGTACCCATGGAGG -3'

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

Posted On

2019-06-26