Mutagenetix > Incidental Mutation

Incidental Mutation 'R0456:Antxr1'

40013

Institutional Source

Beutler Lab

Gene Symbol

Antxr1

Ensembl Gene

ENSMUSG00000033420

Gene Name

anthrax toxin receptor 1

Synonyms

2810405N18Rik, Tem8, 2310008J16Rik

MMRRC Submission

038656-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0456 (G1)

Quality Score

110

Status

Not validated

Chromosome

Chromosomal Location

87110835-87312757 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 87194257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 347 (V347G)

Ref Sequence

ENSEMBL: ENSMUSP00000145105 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042025] [ENSMUST00000204805] [ENSMUST00000205033]

AlphaFold

Q9CZ52

Predicted Effect

probably damaging
Transcript: ENSMUST00000042025
AA Change: V347G

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

SMART Domains

Protein: ENSMUSP00000045634
Gene: ENSMUSG00000033420
AA Change: V347G

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWA	40	218	8.08e-18	SMART
low complexity region	304	313	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
Pfam:Ant_C	394	486	5.9e-51	PFAM
low complexity region	501	561	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203131

Predicted Effect

probably damaging
Transcript: ENSMUST00000204805
AA Change: V347G

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

SMART Domains

Protein: ENSMUSP00000145105
Gene: ENSMUSG00000033420
AA Change: V347G

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWA	40	218	8.08e-18	SMART
low complexity region	304	313	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
Pfam:Ant_C	394	482	8.5e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000205033
AA Change: V347G

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

SMART Domains

Protein: ENSMUSP00000144911
Gene: ENSMUSG00000033420
AA Change: V347G

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWA	40	218	5.2e-20	SMART
low complexity region	304	313	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
low complexity region	351	363	N/A	INTRINSIC
Pfam:Ant_C	394	485	3.9e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205089

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I transmembrane protein and is a tumor-specific endothelial marker that has been implicated in colorectal cancer. The encoded protein has been shown to also be a docking protein or receptor for Bacillus anthracis toxin, the causative agent of the disease, anthrax. The binding of the protective antigen (PA) component, of the tripartite anthrax toxin, to this receptor protein mediates delivery of toxin components to the cytosol of cells. Once inside the cell, the other two components of anthrax toxin, edema factor (EF) and lethal factor (LF) disrupt normal cellular processes. Three alternatively spliced variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a null mutation display female infertility and malocclusion of the incisors. Mice homozygous for a different knock-out allele exhibit malocclusion of incisors and increased extracellular matrix deposition in several organs, includingthe ovaries and uterus, but normal fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	G	A	18: 12,429,036 (GRCm39)	P11L	probably damaging	Het
Atp13a5	T	C	16: 29,051,492 (GRCm39)	N1127D	probably benign	Het
Bivm	T	A	1: 44,165,969 (GRCm39)	W140R	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ceacam5	T	C	7: 17,494,776 (GRCm39)	V928A	possibly damaging	Het
Chia1	T	C	3: 106,035,795 (GRCm39)	Y152H	probably damaging	Het
Chsy3	A	T	18: 59,309,550 (GRCm39)	I268F	probably damaging	Het
CK137956	A	T	4: 127,839,100 (GRCm39)	N439K	probably damaging	Het
Csf3r	C	A	4: 125,929,654 (GRCm39)	N392K	probably damaging	Het
Cyp1b1	T	C	17: 80,017,704 (GRCm39)	I484V	probably benign	Het
Dsc1	T	C	18: 20,232,169 (GRCm39)	K280E	probably damaging	Het
Eefsec	A	G	6: 88,274,870 (GRCm39)	Y365H	probably benign	Het
Epb41l4b	C	T	4: 57,142,843 (GRCm39)		probably null	Het
Erap1	G	A	13: 74,812,339 (GRCm39)	V385I	probably benign	Het
Fat1	A	T	8: 45,482,571 (GRCm39)	I3077F	probably damaging	Het
Fras1	T	G	5: 96,862,202 (GRCm39)		probably null	Het
Fras1	G	T	5: 96,702,647 (GRCm39)	G230C	probably damaging	Het
Gsg1l	A	G	7: 125,522,682 (GRCm39)	M182T	possibly damaging	Het
Gzmg	A	G	14: 56,395,779 (GRCm39)	V60A	probably damaging	Het
H4c6	T	C	13: 23,735,561 (GRCm39)	D86G	probably damaging	Het
Hapln4	A	T	8: 70,537,645 (GRCm39)	Y113F	probably benign	Het
Ikzf4	T	A	10: 128,471,677 (GRCm39)	T274S	probably damaging	Het
Kansl1l	T	A	1: 66,774,885 (GRCm39)	H302L	probably damaging	Het
Klhl41	T	C	2: 69,500,893 (GRCm39)	V118A	probably damaging	Het
Kpna1	T	C	16: 35,823,270 (GRCm39)	S41P	possibly damaging	Het
Krt23	A	G	11: 99,377,604 (GRCm39)	V134A	probably benign	Het
Lamb1	G	A	12: 31,354,729 (GRCm39)	C992Y	probably damaging	Het
Lrif1	C	T	3: 106,639,094 (GRCm39)	P35S	probably benign	Het
Lrrc4	A	G	6: 28,831,103 (GRCm39)	S171P	probably damaging	Het
Lvrn	G	A	18: 46,997,883 (GRCm39)		probably null	Het
Matr3	T	A	18: 35,705,917 (GRCm39)	F281I	probably damaging	Het
Meak7	A	T	8: 120,495,162 (GRCm39)	F199I	probably damaging	Het
Nxn	G	A	11: 76,153,963 (GRCm39)	Q291*	probably null	Het
Or5b113	A	G	19: 13,342,102 (GRCm39)	T37A	probably damaging	Het
Pdp2	G	T	8: 105,320,421 (GRCm39)	R90L	probably damaging	Het
Ppp1r3c	C	A	19: 36,711,291 (GRCm39)	E160*	probably null	Het
Ppp2r5c	T	G	12: 110,489,013 (GRCm39)	S118R	probably damaging	Het
Ptpn23	G	T	9: 110,218,861 (GRCm39)		probably null	Het
Ptpro	G	T	6: 137,391,228 (GRCm39)	V783L	probably benign	Het
Rab40c	A	G	17: 26,103,631 (GRCm39)	V144A	possibly damaging	Het
Rasal2	T	C	1: 156,977,413 (GRCm39)	N1087S	probably damaging	Het
Rfc3	T	A	5: 151,570,988 (GRCm39)	S103C	possibly damaging	Het
Rgl2	A	G	17: 34,155,823 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rit2	A	T	18: 31,108,504 (GRCm39)	F160L	probably benign	Het
Rnh1	A	G	7: 140,742,461 (GRCm39)	S366P	possibly damaging	Het
Sdk2	T	C	11: 113,682,292 (GRCm39)	Y2029C	possibly damaging	Het
Smpd3	T	A	8: 106,986,288 (GRCm39)	I505F	probably benign	Het
Sorcs3	A	T	19: 48,642,483 (GRCm39)	S379C	possibly damaging	Het
Sult1e1	A	G	5: 87,726,493 (GRCm39)	L207P	possibly damaging	Het
Sycp2	C	G	2: 178,023,648 (GRCm39)	S456T	probably benign	Het
Syne1	T	C	10: 5,292,252 (GRCm39)	T1339A	probably benign	Het
Tas2r117	A	G	6: 132,780,354 (GRCm39)	N164S	probably benign	Het
Tigd3	A	G	19: 5,942,821 (GRCm39)	L103P	probably damaging	Het
Tmem132b	T	C	5: 125,864,788 (GRCm39)	S965P	probably damaging	Het
Tmem82	T	C	4: 141,344,701 (GRCm39)	T81A	probably benign	Het
Tmem8b	A	G	4: 43,685,618 (GRCm39)	T156A	probably benign	Het
Tnfrsf21	A	G	17: 43,348,982 (GRCm39)	E198G	probably benign	Het
Tnpo2	A	G	8: 85,781,045 (GRCm39)	N767S	probably damaging	Het
Trf	T	C	9: 103,104,102 (GRCm39)	Y87C	probably damaging	Het
Tst	A	G	15: 78,289,780 (GRCm39)	V85A	probably damaging	Het
Usp37	A	T	1: 74,507,507 (GRCm39)	N503K	probably damaging	Het
Utp20	C	T	10: 88,590,435 (GRCm39)	M2346I	possibly damaging	Het
Vax2	A	G	6: 83,688,388 (GRCm39)	D37G	probably benign	Het
Vmn1r77	T	A	7: 11,775,665 (GRCm39)	L79*	probably null	Het
Zbtb3	A	T	19: 8,780,564 (GRCm39)	D59V	probably damaging	Het
Zdhhc13	T	C	7: 48,458,602 (GRCm39)	F182S	probably benign	Het
Zfp426	A	G	9: 20,381,593 (GRCm39)	F465L	probably damaging	Het
Zfp526	A	G	7: 24,925,637 (GRCm39)	E632G	probably damaging	Het

Other mutations in Antxr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00592:Antxr1	APN	6	87,265,784 (GRCm39)	missense	probably damaging	1.00
IGL02391:Antxr1	APN	6	87,264,038 (GRCm39)	missense	probably damaging	1.00
IGL02944:Antxr1	APN	6	87,165,141 (GRCm39)	missense	possibly damaging	0.93
IGL03278:Antxr1	APN	6	87,181,439 (GRCm39)	splice site	probably benign
slinky	UTSW	6	87,263,982 (GRCm39)	critical splice donor site	probably null
slipnslide	UTSW	6	87,261,291 (GRCm39)	missense	probably damaging	1.00
Stubby	UTSW	6	87,194,255 (GRCm39)	critical splice donor site	probably null
E0374:Antxr1	UTSW	6	87,232,861 (GRCm39)	missense	probably benign	0.03
R0333:Antxr1	UTSW	6	87,165,820 (GRCm39)	splice site	probably benign
R0482:Antxr1	UTSW	6	87,246,220 (GRCm39)	splice site	probably null
R4612:Antxr1	UTSW	6	87,265,155 (GRCm39)	missense	probably damaging	1.00
R5269:Antxr1	UTSW	6	87,157,165 (GRCm39)	missense	probably damaging	1.00
R5610:Antxr1	UTSW	6	87,232,845 (GRCm39)	missense	probably damaging	1.00
R5671:Antxr1	UTSW	6	87,194,255 (GRCm39)	critical splice donor site	probably null
R5893:Antxr1	UTSW	6	87,114,241 (GRCm39)	missense	probably benign	0.00
R5925:Antxr1	UTSW	6	87,289,344 (GRCm39)	missense	probably damaging	1.00
R6038:Antxr1	UTSW	6	87,263,982 (GRCm39)	critical splice donor site	probably null
R6038:Antxr1	UTSW	6	87,263,982 (GRCm39)	critical splice donor site	probably null
R6658:Antxr1	UTSW	6	87,261,291 (GRCm39)	missense	probably damaging	1.00
R7634:Antxr1	UTSW	6	87,114,273 (GRCm39)	missense	probably benign	0.20
R8103:Antxr1	UTSW	6	87,165,198 (GRCm39)	missense	probably damaging	1.00
R8506:Antxr1	UTSW	6	87,165,155 (GRCm39)	missense	possibly damaging	0.77
R8756:Antxr1	UTSW	6	87,165,235 (GRCm39)	missense	probably damaging	1.00
R9183:Antxr1	UTSW	6	87,264,025 (GRCm39)	missense	probably damaging	1.00
R9296:Antxr1	UTSW	6	87,114,409 (GRCm39)	intron	probably benign
R9688:Antxr1	UTSW	6	87,114,334 (GRCm39)	missense	probably damaging	1.00
R9756:Antxr1	UTSW	6	87,217,936 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- ACCAAGTGACCAAGCCTGGATTATG -3'
(R):5'- CTTGAGTGATGGGCAGAGTCTGAC -3'

Sequencing Primer
(F):5'- CCAAGCCTGGATTATGCTGAG -3'
(R):5'- AGTCTGACTCTTGGTGTACAATG -3'

Posted On

2013-05-23